From fe5b8e7b1fa9da165e2d289a0a545d78dfb192cb Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Thu, 15 Jun 2023 04:57:43 -0700 Subject: [PATCH] missing files --- src/mappings/gard.sssom.tsv | 22392 ++++++++++++++++ .../reports/mirror_signature-gard.tsv | 12005 +++++++++ 2 files changed, 34397 insertions(+) create mode 100644 src/mappings/gard.sssom.tsv create mode 100644 src/ontology/reports/mirror_signature-gard.tsv diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv new file mode 100644 index 00000000..e49fdf4c --- /dev/null +++ b/src/mappings/gard.sssom.tsv @@ -0,0 +1,22392 @@ +# curie_map: +# GARD: http://purl.obolibrary.org/obo/GARD_ +# OMIM: https://omim.org/entry/ +# Orphanet: http://www.orpha.net/ORDO/Orphanet_ +# owl: http://www.w3.org/2002/07/owl# +# rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# +# rdfs: http://www.w3.org/2000/01/rdf-schema# +# semapv: https://w3id.org/semapv/ +# skos: http://www.w3.org/2004/02/skos/core# +# sssom: https://w3id.org/sssom/ +# license: https://w3id.org/sssom/license/unspecified +# mapping_set_id: https://w3id.org/sssom/mappings/3fa1c51c-b1ed-4fd8-b366-cadf3d27c2ba +subject_id subject_label predicate_id object_id mapping_justification +GARD:1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching +GARD:1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching +GARD:10000 Spinocerebellar ataxia with axonal neuropathy type 1 skos:exactMatch Orphanet:94124 semapv:UnspecifiedMatching +GARD:10000 Spinocerebellar ataxia with axonal neuropathy type 1 skos:narrowMatch OMIM:607250 semapv:UnspecifiedMatching +GARD:10001 Congenital chloride diarrhea skos:exactMatch Orphanet:53689 semapv:UnspecifiedMatching +GARD:10001 Congenital chloride diarrhea skos:narrowMatch OMIM:214700 semapv:UnspecifiedMatching +GARD:10005 Familial progressive cardiac conduction defect skos:exactMatch Orphanet:871 semapv:UnspecifiedMatching +GARD:10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:113900 semapv:UnspecifiedMatching +GARD:10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:115080 semapv:UnspecifiedMatching +GARD:10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:140400 semapv:UnspecifiedMatching +GARD:10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:604559 semapv:UnspecifiedMatching +GARD:10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:612838 semapv:UnspecifiedMatching +GARD:10007 Immunodeficiency 61 skos:broadMatch Orphanet:47 semapv:UnspecifiedMatching +GARD:10007 Immunodeficiency 61 skos:exactMatch OMIM:300310 semapv:UnspecifiedMatching +GARD:10009 Opsoclonus-myoclonus syndrome skos:exactMatch Orphanet:1183 semapv:UnspecifiedMatching +GARD:10010 Self-improving dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79411 semapv:UnspecifiedMatching +GARD:10010 Self-improving dystrophic epidermolysis bullosa skos:narrowMatch OMIM:131705 semapv:UnspecifiedMatching +GARD:10011 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch Orphanet:83617 semapv:UnspecifiedMatching +GARD:10011 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:narrowMatch OMIM:610483 semapv:UnspecifiedMatching +GARD:10012 Camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch Orphanet:85164 semapv:UnspecifiedMatching +GARD:10012 Camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:narrowMatch OMIM:610474 semapv:UnspecifiedMatching +GARD:10014 Pellagra skos:exactMatch Orphanet:97352 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:exactMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:136800 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:610158 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613267 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613268 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613269 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613270 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613271 semapv:UnspecifiedMatching +GARD:10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:615523 semapv:UnspecifiedMatching +GARD:1002 X-linked mandibulofacial dysostosis skos:exactMatch Orphanet:1131 semapv:UnspecifiedMatching +GARD:1002 X-linked mandibulofacial dysostosis skos:narrowMatch OMIM:301950 semapv:UnspecifiedMatching +GARD:10023 Bruck syndrome 2 skos:broadMatch Orphanet:2771 semapv:UnspecifiedMatching +GARD:10023 Bruck syndrome 2 skos:exactMatch OMIM:609220 semapv:UnspecifiedMatching +GARD:10024 Whistling face syndrome, recessive form skos:broadMatch Orphanet:2053 semapv:UnspecifiedMatching +GARD:10024 Whistling face syndrome, recessive form skos:exactMatch OMIM:277720 semapv:UnspecifiedMatching +GARD:10025 Anterior segment developmental anomaly skos:exactMatch Orphanet:88632 semapv:UnspecifiedMatching +GARD:10025 Anterior segment developmental anomaly skos:narrowMatch OMIM:107250 semapv:UnspecifiedMatching +GARD:10025 Anterior segment developmental anomaly skos:narrowMatch OMIM:617315 semapv:UnspecifiedMatching +GARD:10025 Anterior segment developmental anomaly skos:narrowMatch OMIM:617319 semapv:UnspecifiedMatching +GARD:10027 Campomelic dysplasia skos:exactMatch Orphanet:140 semapv:UnspecifiedMatching +GARD:10027 Campomelic dysplasia skos:narrowMatch OMIM:114290 semapv:UnspecifiedMatching +GARD:10027 Campomelic dysplasia skos:narrowMatch OMIM:211990 semapv:UnspecifiedMatching +GARD:10027 Campomelic dysplasia skos:narrowMatch OMIM:602196 semapv:UnspecifiedMatching +GARD:10028 Benign recurrent intrahepatic cholestasis type 1 skos:exactMatch Orphanet:99960 semapv:UnspecifiedMatching +GARD:10028 Benign recurrent intrahepatic cholestasis type 1 skos:narrowMatch OMIM:243300 semapv:UnspecifiedMatching +GARD:10029 Benign recurrent intrahepatic cholestasis type 2 skos:exactMatch Orphanet:99961 semapv:UnspecifiedMatching +GARD:10029 Benign recurrent intrahepatic cholestasis type 2 skos:narrowMatch OMIM:605479 semapv:UnspecifiedMatching +GARD:10033 Aneurysm, intracranial berry, 2 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:10033 Aneurysm, intracranial berry, 2 skos:exactMatch OMIM:608542 semapv:UnspecifiedMatching +GARD:10034 Congenital trigeminal anesthesia skos:exactMatch Orphanet:231013 semapv:UnspecifiedMatching +GARD:10034 Congenital trigeminal anesthesia skos:narrowMatch OMIM:122450 semapv:UnspecifiedMatching +GARD:10037 Familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch Orphanet:85110 semapv:UnspecifiedMatching +GARD:10037 Familial encephalopathy with neuroserpin inclusion bodies skos:narrowMatch OMIM:604218 semapv:UnspecifiedMatching +GARD:10039 Hydroxykynureninuria skos:exactMatch Orphanet:79155 semapv:UnspecifiedMatching +GARD:10039 Hydroxykynureninuria skos:narrowMatch OMIM:236800 semapv:UnspecifiedMatching +GARD:10041 Burn-McKeown syndrome skos:exactMatch Orphanet:1200 semapv:UnspecifiedMatching +GARD:10041 Burn-McKeown syndrome skos:narrowMatch OMIM:608572 semapv:UnspecifiedMatching +GARD:10041 Burn-McKeown syndrome skos:narrowMatch OMIM:616462 semapv:UnspecifiedMatching +GARD:10043 Usher syndrome, type if skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:10043 Usher syndrome, type if skos:exactMatch OMIM:602083 semapv:UnspecifiedMatching +GARD:10045 Congenital bile acid synthesis defect type 2 skos:exactMatch Orphanet:79303 semapv:UnspecifiedMatching +GARD:10045 Congenital bile acid synthesis defect type 2 skos:narrowMatch OMIM:235555 semapv:UnspecifiedMatching +GARD:10046 Congenital bile acid synthesis defect type 4 skos:exactMatch Orphanet:79095 semapv:UnspecifiedMatching +GARD:10046 Congenital bile acid synthesis defect type 4 skos:narrowMatch OMIM:214950 semapv:UnspecifiedMatching +GARD:10046 Congenital bile acid synthesis defect type 4 skos:narrowMatch OMIM:614307 semapv:UnspecifiedMatching +GARD:10047 Glutathione synthetase deficiency skos:exactMatch Orphanet:32 semapv:UnspecifiedMatching +GARD:10047 Glutathione synthetase deficiency skos:narrowMatch OMIM:231900 semapv:UnspecifiedMatching +GARD:10047 Glutathione synthetase deficiency skos:narrowMatch OMIM:266130 semapv:UnspecifiedMatching +GARD:10048 Isolated congenital anonychia skos:exactMatch Orphanet:79143 semapv:UnspecifiedMatching +GARD:10048 Isolated congenital anonychia skos:narrowMatch OMIM:107000 semapv:UnspecifiedMatching +GARD:10048 Isolated congenital anonychia skos:narrowMatch OMIM:206800 semapv:UnspecifiedMatching +GARD:10048 Isolated congenital anonychia skos:narrowMatch OMIM:614149 semapv:UnspecifiedMatching +GARD:10049 Central areolar choroidal dystrophy skos:exactMatch Orphanet:75377 semapv:UnspecifiedMatching +GARD:10049 Central areolar choroidal dystrophy skos:narrowMatch OMIM:215500 semapv:UnspecifiedMatching +GARD:10049 Central areolar choroidal dystrophy skos:narrowMatch OMIM:613105 semapv:UnspecifiedMatching +GARD:10049 Central areolar choroidal dystrophy skos:narrowMatch OMIM:613144 semapv:UnspecifiedMatching +GARD:10050 Bietti crystalline dystrophy skos:exactMatch Orphanet:41751 semapv:UnspecifiedMatching +GARD:10050 Bietti crystalline dystrophy skos:narrowMatch OMIM:210370 semapv:UnspecifiedMatching +GARD:10051 Limb-mammary syndrome skos:exactMatch Orphanet:69085 semapv:UnspecifiedMatching +GARD:10051 Limb-mammary syndrome skos:narrowMatch OMIM:603543 semapv:UnspecifiedMatching +GARD:10053 Lipomyelomeningocele skos:exactMatch Orphanet:268835 semapv:UnspecifiedMatching +GARD:10054 Eye defects-arachnodactyly-cardiopathy syndrome skos:exactMatch Orphanet:2725 semapv:UnspecifiedMatching +GARD:10054 Eye defects-arachnodactyly-cardiopathy syndrome skos:narrowMatch OMIM:609465 semapv:UnspecifiedMatching +GARD:10056 Mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch Orphanet:79113 semapv:UnspecifiedMatching +GARD:10056 Mandibulofacial dysostosis-microcephaly syndrome skos:narrowMatch OMIM:610536 semapv:UnspecifiedMatching +GARD:10057 Spondyloepimetaphyseal dysplasia, Geneviève type skos:exactMatch Orphanet:168454 semapv:UnspecifiedMatching +GARD:10057 Spondyloepimetaphyseal dysplasia, Geneviève type skos:narrowMatch OMIM:610442 semapv:UnspecifiedMatching +GARD:10061 Talo-patello-scaphoid osteolysis skos:exactMatch Orphanet:50809 semapv:UnspecifiedMatching +GARD:10061 Talo-patello-scaphoid osteolysis skos:narrowMatch OMIM:609655 semapv:UnspecifiedMatching +GARD:10066 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome skos:exactMatch Orphanet:498485 semapv:UnspecifiedMatching +GARD:10066 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome skos:narrowMatch OMIM:608811 semapv:UnspecifiedMatching +GARD:10070 Subependymoma skos:exactMatch Orphanet:251639 semapv:UnspecifiedMatching +GARD:10072 Diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch Orphanet:85182 semapv:UnspecifiedMatching +GARD:10072 Diaphyseal medullary stenosis-bone malignancy syndrome skos:narrowMatch OMIM:112250 semapv:UnspecifiedMatching +GARD:10075 Dermatitis herpetiformis, familial skos:broadMatch Orphanet:1656 semapv:UnspecifiedMatching +GARD:10075 Dermatitis herpetiformis, familial skos:exactMatch OMIM:601230 semapv:UnspecifiedMatching +GARD:10081 White forelock with malformations skos:exactMatch Orphanet:2475 semapv:UnspecifiedMatching +GARD:10081 White forelock with malformations skos:narrowMatch OMIM:277740 semapv:UnspecifiedMatching +GARD:10082 Infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch Orphanet:85179 semapv:UnspecifiedMatching +GARD:10082 Infantile osteopetrosis with neuroaxonal dysplasia skos:narrowMatch OMIM:259720 semapv:UnspecifiedMatching +GARD:10082 Infantile osteopetrosis with neuroaxonal dysplasia skos:narrowMatch OMIM:600329 semapv:UnspecifiedMatching +GARD:10083 Hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch Orphanet:79124 semapv:UnspecifiedMatching +GARD:10083 Hepatic veno-occlusive disease-immunodeficiency syndrome skos:narrowMatch OMIM:235550 semapv:UnspecifiedMatching +GARD:10084 Hemifacial myohyperplasia skos:exactMatch Orphanet:141148 semapv:UnspecifiedMatching +GARD:10084 Hemifacial myohyperplasia skos:narrowMatch OMIM:606773 semapv:UnspecifiedMatching +GARD:10088 Majeed syndrome skos:exactMatch Orphanet:77297 semapv:UnspecifiedMatching +GARD:10088 Majeed syndrome skos:narrowMatch OMIM:609628 semapv:UnspecifiedMatching +GARD:10089 TARP syndrome skos:exactMatch Orphanet:2886 semapv:UnspecifiedMatching +GARD:10089 TARP syndrome skos:narrowMatch OMIM:311900 semapv:UnspecifiedMatching +GARD:10090 Pierre robin sequence with pectus excavatum and rib and scapular anomalies skos:broadMatch Orphanet:140 semapv:UnspecifiedMatching +GARD:10090 Pierre robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch OMIM:602196 semapv:UnspecifiedMatching +GARD:10091 Sotos syndrome skos:exactMatch Orphanet:821 semapv:UnspecifiedMatching +GARD:10091 Sotos syndrome skos:narrowMatch OMIM:117550 semapv:UnspecifiedMatching +GARD:10091 Sotos syndrome skos:narrowMatch OMIM:617169 semapv:UnspecifiedMatching +GARD:10092 Hemochromatosis type 2 skos:exactMatch Orphanet:79230 semapv:UnspecifiedMatching +GARD:10092 Hemochromatosis type 2 skos:narrowMatch OMIM:602390 semapv:UnspecifiedMatching +GARD:10092 Hemochromatosis type 2 skos:narrowMatch OMIM:613313 semapv:UnspecifiedMatching +GARD:10093 Hemochromatosis type 3 skos:exactMatch Orphanet:225123 semapv:UnspecifiedMatching +GARD:10093 Hemochromatosis type 3 skos:narrowMatch OMIM:604250 semapv:UnspecifiedMatching +GARD:10094 Hemochromatosis type 4 skos:exactMatch Orphanet:139491 semapv:UnspecifiedMatching +GARD:10094 Hemochromatosis type 4 skos:narrowMatch OMIM:606069 semapv:UnspecifiedMatching +GARD:10095 Migraine, familial hemiplegic, 2 skos:broadMatch Orphanet:569 semapv:UnspecifiedMatching +GARD:10095 Migraine, familial hemiplegic, 2 skos:exactMatch OMIM:602481 semapv:UnspecifiedMatching +GARD:10096 Hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 semapv:UnspecifiedMatching +GARD:10096 Hereditary leiomyomatosis and renal cell cancer skos:narrowMatch OMIM:150800 semapv:UnspecifiedMatching +GARD:10097 Leiomyoma of vulva and esophagus skos:broadMatch Orphanet:1018 semapv:UnspecifiedMatching +GARD:10097 Leiomyoma of vulva and esophagus skos:exactMatch OMIM:150700 semapv:UnspecifiedMatching +GARD:10099 Gamma-glutamyl transpeptidase deficiency skos:exactMatch Orphanet:33573 semapv:UnspecifiedMatching +GARD:10099 Gamma-glutamyl transpeptidase deficiency skos:narrowMatch OMIM:231950 semapv:UnspecifiedMatching +GARD:101 Centronuclear myopathy skos:exactMatch Orphanet:595 semapv:UnspecifiedMatching +GARD:10101 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch Orphanet:168443 semapv:UnspecifiedMatching +GARD:10101 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:narrowMatch OMIM:183849 semapv:UnspecifiedMatching +GARD:10103 Elastosis perforans serpiginosa skos:exactMatch Orphanet:79148 semapv:UnspecifiedMatching +GARD:10103 Elastosis perforans serpiginosa skos:narrowMatch OMIM:130100 semapv:UnspecifiedMatching +GARD:10104 Pseudoxanthoma elasticum, forme fruste skos:broadMatch Orphanet:758 semapv:UnspecifiedMatching +GARD:10104 Pseudoxanthoma elasticum, forme fruste skos:exactMatch OMIM:177850 semapv:UnspecifiedMatching +GARD:10106 Osteopetrosis-hypogammaglobulinemia syndrome skos:exactMatch Orphanet:178389 semapv:UnspecifiedMatching +GARD:10106 Osteopetrosis-hypogammaglobulinemia syndrome skos:narrowMatch OMIM:612301 semapv:UnspecifiedMatching +GARD:10108 Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:10108 Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:608931 semapv:UnspecifiedMatching +GARD:10109 Cornelia de Lange syndrome skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +GARD:10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:122470 semapv:UnspecifiedMatching +GARD:10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:300590 semapv:UnspecifiedMatching +GARD:10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:300882 semapv:UnspecifiedMatching +GARD:10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:610759 semapv:UnspecifiedMatching +GARD:10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:614701 semapv:UnspecifiedMatching +GARD:10111 Nemaline myopathy 3 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +GARD:10111 Nemaline myopathy 3 skos:broadMatch Orphanet:171433 semapv:UnspecifiedMatching +GARD:10111 Nemaline myopathy 3 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +GARD:10111 Nemaline myopathy 3 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +GARD:10111 Nemaline myopathy 3 skos:exactMatch OMIM:161800 semapv:UnspecifiedMatching +GARD:10116 Ichthyosis-hypotrichosis syndrome skos:exactMatch Orphanet:91132 semapv:UnspecifiedMatching +GARD:10116 Ichthyosis-hypotrichosis syndrome skos:narrowMatch OMIM:602400 semapv:UnspecifiedMatching +GARD:10118 Oguchi disease skos:exactMatch Orphanet:75382 semapv:UnspecifiedMatching +GARD:10118 Oguchi disease skos:narrowMatch OMIM:258100 semapv:UnspecifiedMatching +GARD:10118 Oguchi disease skos:narrowMatch OMIM:613411 semapv:UnspecifiedMatching +GARD:10119 Cone dystrophy, x-linked, with tapetal-like sheen skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +GARD:10119 Cone dystrophy, x-linked, with tapetal-like sheen skos:exactMatch OMIM:304030 semapv:UnspecifiedMatching +GARD:10120 Macular dystrophy, vitelliform, 1 skos:broadMatch Orphanet:99000 semapv:UnspecifiedMatching +GARD:10120 Macular dystrophy, vitelliform, 1 skos:exactMatch OMIM:153840 semapv:UnspecifiedMatching +GARD:10121 MORM syndrome skos:exactMatch Orphanet:75858 semapv:UnspecifiedMatching +GARD:10121 MORM syndrome skos:narrowMatch OMIM:610156 semapv:UnspecifiedMatching +GARD:10123 Progressive bifocal chorioretinal atrophy skos:exactMatch Orphanet:75373 semapv:UnspecifiedMatching +GARD:10123 Progressive bifocal chorioretinal atrophy skos:narrowMatch OMIM:600790 semapv:UnspecifiedMatching +GARD:10126 GM1 gangliosidosis type 2 skos:exactMatch Orphanet:79256 semapv:UnspecifiedMatching +GARD:10126 GM1 gangliosidosis type 2 skos:narrowMatch OMIM:230600 semapv:UnspecifiedMatching +GARD:10127 Leydig cell hypoplasia due to LHB deficiency skos:exactMatch Orphanet:325448 semapv:UnspecifiedMatching +GARD:10127 Leydig cell hypoplasia due to LHB deficiency skos:narrowMatch OMIM:228300 semapv:UnspecifiedMatching +GARD:10128 Isolated follicle stimulating hormone deficiency skos:exactMatch Orphanet:52901 semapv:UnspecifiedMatching +GARD:10128 Isolated follicle stimulating hormone deficiency skos:narrowMatch OMIM:229070 semapv:UnspecifiedMatching +GARD:10129 Isolated thyroid-stimulating hormone deficiency skos:exactMatch Orphanet:90674 semapv:UnspecifiedMatching +GARD:10129 Isolated thyroid-stimulating hormone deficiency skos:narrowMatch OMIM:275100 semapv:UnspecifiedMatching +GARD:10130 Monosomy 22q13.3 skos:exactMatch Orphanet:48652 semapv:UnspecifiedMatching +GARD:10130 Monosomy 22q13.3 skos:narrowMatch OMIM:606232 semapv:UnspecifiedMatching +GARD:10131 Hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch Orphanet:90117 semapv:UnspecifiedMatching +GARD:10131 Hereditary motor and sensory neuropathy, Okinawa type skos:narrowMatch OMIM:604484 semapv:UnspecifiedMatching +GARD:10132 Charcot-Marie-Tooth disease type 4G skos:exactMatch Orphanet:99953 semapv:UnspecifiedMatching +GARD:10132 Charcot-Marie-Tooth disease type 4G skos:narrowMatch OMIM:605285 semapv:UnspecifiedMatching +GARD:10133 Distal hereditary motor neuropathy, Jerash type skos:exactMatch Orphanet:139552 semapv:UnspecifiedMatching +GARD:10133 Distal hereditary motor neuropathy, Jerash type skos:narrowMatch OMIM:605726 semapv:UnspecifiedMatching +GARD:10138 Primary dystonia, DYT4 type skos:exactMatch Orphanet:98805 semapv:UnspecifiedMatching +GARD:10138 Primary dystonia, DYT4 type skos:narrowMatch OMIM:128101 semapv:UnspecifiedMatching +GARD:10140 Bohring-Opitz syndrome skos:exactMatch Orphanet:97297 semapv:UnspecifiedMatching +GARD:10140 Bohring-Opitz syndrome skos:narrowMatch OMIM:605039 semapv:UnspecifiedMatching +GARD:10142 Osteogenesis imperfecta type 2 skos:exactMatch Orphanet:216804 semapv:UnspecifiedMatching +GARD:10142 Osteogenesis imperfecta type 2 skos:narrowMatch OMIM:166210 semapv:UnspecifiedMatching +GARD:10142 Osteogenesis imperfecta type 2 skos:narrowMatch OMIM:259440 semapv:UnspecifiedMatching +GARD:10142 Osteogenesis imperfecta type 2 skos:narrowMatch OMIM:610682 semapv:UnspecifiedMatching +GARD:10142 Osteogenesis imperfecta type 2 skos:narrowMatch OMIM:610915 semapv:UnspecifiedMatching +GARD:10144 Dentinogenesis imperfecta type 3 skos:exactMatch Orphanet:166265 semapv:UnspecifiedMatching +GARD:10144 Dentinogenesis imperfecta type 3 skos:narrowMatch OMIM:125500 semapv:UnspecifiedMatching +GARD:10145 17p11.2 microduplication syndrome skos:exactMatch Orphanet:1713 semapv:UnspecifiedMatching +GARD:10145 17p11.2 microduplication syndrome skos:narrowMatch OMIM:610883 semapv:UnspecifiedMatching +GARD:10147 BOR syndrome skos:exactMatch Orphanet:107 semapv:UnspecifiedMatching +GARD:10147 BOR syndrome skos:narrowMatch OMIM:113650 semapv:UnspecifiedMatching +GARD:10147 BOR syndrome skos:narrowMatch OMIM:610896 semapv:UnspecifiedMatching +GARD:10148 Branchiootic syndrome skos:exactMatch Orphanet:52429 semapv:UnspecifiedMatching +GARD:10148 Branchiootic syndrome skos:narrowMatch OMIM:120502 semapv:UnspecifiedMatching +GARD:10148 Branchiootic syndrome skos:narrowMatch OMIM:602588 semapv:UnspecifiedMatching +GARD:10148 Branchiootic syndrome skos:narrowMatch OMIM:608389 semapv:UnspecifiedMatching +GARD:10149 Kyphomelic dysplasia skos:exactMatch Orphanet:1801 semapv:UnspecifiedMatching +GARD:10149 Kyphomelic dysplasia skos:narrowMatch OMIM:211350 semapv:UnspecifiedMatching +GARD:10151 Aicardi-goutieres syndrome 5 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:10151 Aicardi-goutieres syndrome 5 skos:exactMatch OMIM:612952 semapv:UnspecifiedMatching +GARD:10152 Osteogenesis imperfecta, type viii skos:broadMatch Orphanet:216804 semapv:UnspecifiedMatching +GARD:10152 Osteogenesis imperfecta, type viii skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:10152 Osteogenesis imperfecta, type viii skos:exactMatch OMIM:610915 semapv:UnspecifiedMatching +GARD:10153 Pulmonary venoocclusive disease skos:exactMatch Orphanet:31837 semapv:UnspecifiedMatching +GARD:10153 Pulmonary venoocclusive disease skos:narrowMatch OMIM:265450 semapv:UnspecifiedMatching +GARD:10156 Congenital chylothorax skos:exactMatch Orphanet:264688 semapv:UnspecifiedMatching +GARD:10156 Congenital chylothorax skos:narrowMatch OMIM:603523 semapv:UnspecifiedMatching +GARD:10163 Curly hair-acral keratoderma-caries syndrome skos:exactMatch Orphanet:307766 semapv:UnspecifiedMatching +GARD:10163 Curly hair-acral keratoderma-caries syndrome skos:narrowMatch OMIM:607656 semapv:UnspecifiedMatching +GARD:10167 Joubert syndrome 2 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +GARD:10167 Joubert syndrome 2 skos:exactMatch OMIM:608091 semapv:UnspecifiedMatching +GARD:10168 Joubert syndrome with ocular defect skos:exactMatch Orphanet:220493 semapv:UnspecifiedMatching +GARD:10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:608629 semapv:UnspecifiedMatching +GARD:10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:614424 semapv:UnspecifiedMatching +GARD:10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:614464 semapv:UnspecifiedMatching +GARD:10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:614970 semapv:UnspecifiedMatching +GARD:10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:617121 semapv:UnspecifiedMatching +GARD:10169 Joubert syndrome with renal defect skos:exactMatch Orphanet:220497 semapv:UnspecifiedMatching +GARD:10169 Joubert syndrome with renal defect skos:narrowMatch OMIM:609583 semapv:UnspecifiedMatching +GARD:10169 Joubert syndrome with renal defect skos:narrowMatch OMIM:611560 semapv:UnspecifiedMatching +GARD:10169 Joubert syndrome with renal defect skos:narrowMatch OMIM:614424 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:166200 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:166210 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:166220 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:166230 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:259420 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:259440 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:610682 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:610915 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:610967 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:610968 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:613848 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:613849 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:613982 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:614856 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:615066 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:615220 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:616229 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:616507 semapv:UnspecifiedMatching +GARD:1017 Osteogenesis imperfecta skos:narrowMatch OMIM:619131 semapv:UnspecifiedMatching +GARD:10173 Florid cemento-osseous dysplasia skos:exactMatch Orphanet:83451 semapv:UnspecifiedMatching +GARD:10175 Klatskin tumor skos:exactMatch Orphanet:99978 semapv:UnspecifiedMatching +GARD:10177 Mirizzi syndrome skos:exactMatch Orphanet:521219 semapv:UnspecifiedMatching +GARD:10179 Brooke-Spiegler syndrome skos:exactMatch Orphanet:79493 semapv:UnspecifiedMatching +GARD:10179 Brooke-Spiegler syndrome skos:narrowMatch OMIM:132700 semapv:UnspecifiedMatching +GARD:10179 Brooke-Spiegler syndrome skos:narrowMatch OMIM:601606 semapv:UnspecifiedMatching +GARD:10179 Brooke-Spiegler syndrome skos:narrowMatch OMIM:605041 semapv:UnspecifiedMatching +GARD:10179 Brooke-Spiegler syndrome skos:narrowMatch OMIM:612099 semapv:UnspecifiedMatching +GARD:10181 Epithelioid sarcoma skos:exactMatch Orphanet:293202 semapv:UnspecifiedMatching +GARD:10184 Hereditary cryohydrocytosis with normal stomatin skos:exactMatch Orphanet:398088 semapv:UnspecifiedMatching +GARD:10184 Hereditary cryohydrocytosis with normal stomatin skos:narrowMatch OMIM:185020 semapv:UnspecifiedMatching +GARD:10188 Angioma serpiginosum, x-linked skos:broadMatch Orphanet:95429 semapv:UnspecifiedMatching +GARD:10188 Angioma serpiginosum, x-linked skos:exactMatch OMIM:300652 semapv:UnspecifiedMatching +GARD:10189 Angioma serpiginosum, autosomal dominant skos:broadMatch Orphanet:95429 semapv:UnspecifiedMatching +GARD:10189 Angioma serpiginosum, autosomal dominant skos:exactMatch OMIM:106050 semapv:UnspecifiedMatching +GARD:1019 Brittle cornea syndrome skos:exactMatch Orphanet:90354 semapv:UnspecifiedMatching +GARD:1019 Brittle cornea syndrome skos:narrowMatch OMIM:229200 semapv:UnspecifiedMatching +GARD:1019 Brittle cornea syndrome skos:narrowMatch OMIM:614170 semapv:UnspecifiedMatching +GARD:10190 Isolated focal cortical dysplasia type II skos:exactMatch Orphanet:268994 semapv:UnspecifiedMatching +GARD:10190 Isolated focal cortical dysplasia type II skos:narrowMatch OMIM:607341 semapv:UnspecifiedMatching +GARD:10193 Subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch Orphanet:86884 semapv:UnspecifiedMatching +GARD:10193 Subcutaneous panniculitis-like T-cell lymphoma skos:narrowMatch OMIM:618398 semapv:UnspecifiedMatching +GARD:10199 Early-onset X-linked optic atrophy skos:exactMatch Orphanet:98890 semapv:UnspecifiedMatching +GARD:10199 Early-onset X-linked optic atrophy skos:narrowMatch OMIM:311050 semapv:UnspecifiedMatching +GARD:102 Neu-Laxova syndrome skos:exactMatch Orphanet:2671 semapv:UnspecifiedMatching +GARD:102 Neu-Laxova syndrome skos:narrowMatch OMIM:256520 semapv:UnspecifiedMatching +GARD:102 Neu-Laxova syndrome skos:narrowMatch OMIM:616038 semapv:UnspecifiedMatching +GARD:10200 Optic atrophy 6 skos:broadMatch Orphanet:98676 semapv:UnspecifiedMatching +GARD:10200 Optic atrophy 6 skos:exactMatch OMIM:258500 semapv:UnspecifiedMatching +GARD:10201 Optic atrophy 5 skos:broadMatch Orphanet:98673 semapv:UnspecifiedMatching +GARD:10201 Optic atrophy 5 skos:exactMatch OMIM:610708 semapv:UnspecifiedMatching +GARD:10202 2q37 microdeletion syndrome skos:exactMatch Orphanet:1001 semapv:UnspecifiedMatching +GARD:10202 2q37 microdeletion syndrome skos:narrowMatch OMIM:600430 semapv:UnspecifiedMatching +GARD:10203 Autosomal dominant optic atrophy and cataract skos:exactMatch Orphanet:67036 semapv:UnspecifiedMatching +GARD:10203 Autosomal dominant optic atrophy and cataract skos:narrowMatch OMIM:165300 semapv:UnspecifiedMatching +GARD:10204 Bardet-biedl syndrome 5 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:10204 Bardet-biedl syndrome 5 skos:exactMatch OMIM:615983 semapv:UnspecifiedMatching +GARD:10205 Bardet-biedl syndrome 6 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:10205 Bardet-biedl syndrome 6 skos:exactMatch OMIM:605231 semapv:UnspecifiedMatching +GARD:10206 Bardet-biedl syndrome 7 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:10206 Bardet-biedl syndrome 7 skos:exactMatch OMIM:615984 semapv:UnspecifiedMatching +GARD:10207 Bardet-biedl syndrome 8 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:10207 Bardet-biedl syndrome 8 skos:exactMatch OMIM:615985 semapv:UnspecifiedMatching +GARD:10208 Bardet-biedl syndrome 9 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:10208 Bardet-biedl syndrome 9 skos:exactMatch OMIM:615986 semapv:UnspecifiedMatching +GARD:10209 Bardet-biedl syndrome 10 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:10209 Bardet-biedl syndrome 10 skos:exactMatch OMIM:615987 semapv:UnspecifiedMatching +GARD:10210 Bardet-biedl syndrome 11 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:10210 Bardet-biedl syndrome 11 skos:exactMatch OMIM:615988 semapv:UnspecifiedMatching +GARD:10211 Bardet-biedl syndrome 12 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:10211 Bardet-biedl syndrome 12 skos:exactMatch OMIM:615989 semapv:UnspecifiedMatching +GARD:10212 Lipodystrophy, congenital generalized, type 2 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +GARD:10212 Lipodystrophy, congenital generalized, type 2 skos:exactMatch OMIM:269700 semapv:UnspecifiedMatching +GARD:10213 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:exactMatch Orphanet:572361 semapv:UnspecifiedMatching +GARD:10213 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:narrowMatch OMIM:110100 semapv:UnspecifiedMatching +GARD:10214 Neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch Orphanet:247598 semapv:UnspecifiedMatching +GARD:10214 Neonatal intrahepatic cholestasis due to citrin deficiency skos:narrowMatch OMIM:605814 semapv:UnspecifiedMatching +GARD:10215 Citrullinemia type II skos:exactMatch Orphanet:247585 semapv:UnspecifiedMatching +GARD:10215 Citrullinemia type II skos:narrowMatch OMIM:603471 semapv:UnspecifiedMatching +GARD:10216 NDE1-related microhydranencephaly skos:exactMatch Orphanet:443162 semapv:UnspecifiedMatching +GARD:10216 NDE1-related microhydranencephaly skos:narrowMatch OMIM:605013 semapv:UnspecifiedMatching +GARD:10220 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch Orphanet:137678 semapv:UnspecifiedMatching +GARD:10220 Spondyloepiphyseal dysplasia with metatarsal shortening skos:narrowMatch OMIM:609162 semapv:UnspecifiedMatching +GARD:10221 HNF1B-related autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:93111 semapv:UnspecifiedMatching +GARD:10221 HNF1B-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:137920 semapv:UnspecifiedMatching +GARD:10221 HNF1B-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:616026 semapv:UnspecifiedMatching +GARD:10223 Isobutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79159 semapv:UnspecifiedMatching +GARD:10223 Isobutyryl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:611283 semapv:UnspecifiedMatching +GARD:10224 Zygomycosis skos:exactMatch Orphanet:73263 semapv:UnspecifiedMatching +GARD:10225 Multiple endocrine neoplasia type 2B skos:exactMatch Orphanet:247709 semapv:UnspecifiedMatching +GARD:10225 Multiple endocrine neoplasia type 2B skos:narrowMatch OMIM:162300 semapv:UnspecifiedMatching +GARD:10226 COG1-CDG skos:exactMatch Orphanet:263508 semapv:UnspecifiedMatching +GARD:10226 COG1-CDG skos:narrowMatch OMIM:611209 semapv:UnspecifiedMatching +GARD:10229 Autosomal dominant limb-girdle muscular dystrophy type 1A skos:exactMatch Orphanet:266 semapv:UnspecifiedMatching +GARD:10229 Autosomal dominant limb-girdle muscular dystrophy type 1A skos:narrowMatch OMIM:609200 semapv:UnspecifiedMatching +GARD:10230 Emery-dreifuss muscular dystrophy 2, autosomal dominant skos:broadMatch Orphanet:98853 semapv:UnspecifiedMatching +GARD:10230 Emery-dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch OMIM:181350 semapv:UnspecifiedMatching +GARD:10237 Biotin-thiamine-responsive basal ganglia disease skos:exactMatch Orphanet:65284 semapv:UnspecifiedMatching +GARD:10237 Biotin-thiamine-responsive basal ganglia disease skos:narrowMatch OMIM:607483 semapv:UnspecifiedMatching +GARD:10238 Myostatin-related muscle hypertrophy skos:exactMatch Orphanet:275534 semapv:UnspecifiedMatching +GARD:10238 Myostatin-related muscle hypertrophy skos:narrowMatch OMIM:614160 semapv:UnspecifiedMatching +GARD:10239 H syndrome skos:exactMatch Orphanet:168569 semapv:UnspecifiedMatching +GARD:10239 H syndrome skos:narrowMatch OMIM:602782 semapv:UnspecifiedMatching +GARD:10241 Diamond-blackfan anemia 3 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:10241 Diamond-blackfan anemia 3 skos:exactMatch OMIM:610629 semapv:UnspecifiedMatching +GARD:10244 Familial lipase maturation factor 1 deficiency skos:exactMatch Orphanet:535453 semapv:UnspecifiedMatching +GARD:10244 Familial lipase maturation factor 1 deficiency skos:narrowMatch OMIM:246650 semapv:UnspecifiedMatching +GARD:10247 Down syndrome skos:exactMatch Orphanet:870 semapv:UnspecifiedMatching +GARD:10247 Down syndrome skos:narrowMatch OMIM:190685 semapv:UnspecifiedMatching +GARD:10248 Rare disease with autism skos:exactMatch Orphanet:180772 semapv:UnspecifiedMatching +GARD:1025 Bronchogenic cyst skos:exactMatch Orphanet:2357 semapv:UnspecifiedMatching +GARD:10252 Primary Sjögren syndrome skos:exactMatch Orphanet:289390 semapv:UnspecifiedMatching +GARD:10252 Primary Sjögren syndrome skos:narrowMatch OMIM:270150 semapv:UnspecifiedMatching +GARD:10263 Hydatidiform mole skos:exactMatch Orphanet:99927 semapv:UnspecifiedMatching +GARD:10263 Hydatidiform mole skos:narrowMatch OMIM:231090 semapv:UnspecifiedMatching +GARD:10263 Hydatidiform mole skos:narrowMatch OMIM:614293 semapv:UnspecifiedMatching +GARD:10266 Hereditary cerebral hemorrhage with amyloidosis skos:exactMatch Orphanet:85458 semapv:UnspecifiedMatching +GARD:10266 Hereditary cerebral hemorrhage with amyloidosis skos:narrowMatch OMIM:105150 semapv:UnspecifiedMatching +GARD:10266 Hereditary cerebral hemorrhage with amyloidosis skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +GARD:10267 Hyper-beta-alaninemia skos:exactMatch Orphanet:309147 semapv:UnspecifiedMatching +GARD:10267 Hyper-beta-alaninemia skos:narrowMatch OMIM:237400 semapv:UnspecifiedMatching +GARD:10277 Adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch Orphanet:2952 semapv:UnspecifiedMatching +GARD:10277 Adducted thumbs-arthrogryposis syndrome, Christian type skos:narrowMatch OMIM:201550 semapv:UnspecifiedMatching +GARD:10280 Isolated Klippel-Feil syndrome skos:exactMatch Orphanet:2345 semapv:UnspecifiedMatching +GARD:10280 Isolated Klippel-Feil syndrome skos:narrowMatch OMIM:118100 semapv:UnspecifiedMatching +GARD:10280 Isolated Klippel-Feil syndrome skos:narrowMatch OMIM:214300 semapv:UnspecifiedMatching +GARD:10280 Isolated Klippel-Feil syndrome skos:narrowMatch OMIM:613702 semapv:UnspecifiedMatching +GARD:10281 Axenfeld-rieger syndrome, type 1 skos:broadMatch Orphanet:782 semapv:UnspecifiedMatching +GARD:10281 Axenfeld-rieger syndrome, type 1 skos:exactMatch OMIM:180500 semapv:UnspecifiedMatching +GARD:10283 Desmosterolosis skos:exactMatch Orphanet:35107 semapv:UnspecifiedMatching +GARD:10283 Desmosterolosis skos:narrowMatch OMIM:602398 semapv:UnspecifiedMatching +GARD:10287 Rolandic epilepsy skos:exactMatch Orphanet:1945 semapv:UnspecifiedMatching +GARD:10287 Rolandic epilepsy skos:narrowMatch OMIM:117100 semapv:UnspecifiedMatching +GARD:10287 Rolandic epilepsy skos:narrowMatch OMIM:245570 semapv:UnspecifiedMatching +GARD:10288 Neutral lipid storage myopathy skos:exactMatch Orphanet:98908 semapv:UnspecifiedMatching +GARD:10288 Neutral lipid storage myopathy skos:narrowMatch OMIM:610717 semapv:UnspecifiedMatching +GARD:1029 Bruck syndrome skos:exactMatch Orphanet:2771 semapv:UnspecifiedMatching +GARD:1029 Bruck syndrome skos:narrowMatch OMIM:259450 semapv:UnspecifiedMatching +GARD:1029 Bruck syndrome skos:narrowMatch OMIM:609220 semapv:UnspecifiedMatching +GARD:10290 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch Orphanet:166277 semapv:UnspecifiedMatching +GARD:10290 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:narrowMatch OMIM:604922 semapv:UnspecifiedMatching +GARD:10291 Linear nevus sebaceus syndrome skos:exactMatch Orphanet:2612 semapv:UnspecifiedMatching +GARD:10291 Linear nevus sebaceus syndrome skos:narrowMatch OMIM:163200 semapv:UnspecifiedMatching +GARD:10294 Autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching +GARD:10294 Autosomal recessive ataxia due to ubiquinone deficiency skos:narrowMatch OMIM:612016 semapv:UnspecifiedMatching +GARD:10294 Autosomal recessive ataxia due to ubiquinone deficiency skos:narrowMatch OMIM:619028 semapv:UnspecifiedMatching +GARD:10295 Syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch Orphanet:140952 semapv:UnspecifiedMatching +GARD:10295 Syndactyly-telecanthus-anogenital and renal malformations syndrome skos:narrowMatch OMIM:300707 semapv:UnspecifiedMatching +GARD:10296 15q13.3 microdeletion syndrome skos:exactMatch Orphanet:199318 semapv:UnspecifiedMatching +GARD:10296 15q13.3 microdeletion syndrome skos:narrowMatch OMIM:612001 semapv:UnspecifiedMatching +GARD:10297 Ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 semapv:UnspecifiedMatching +GARD:10297 Ghosal hematodiaphyseal dysplasia skos:narrowMatch OMIM:231095 semapv:UnspecifiedMatching +GARD:10299 22q11.2 deletion syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching +GARD:10299 22q11.2 deletion syndrome skos:narrowMatch OMIM:188400 semapv:UnspecifiedMatching +GARD:10299 22q11.2 deletion syndrome skos:narrowMatch OMIM:192430 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:exactMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:601144 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:611777 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:611875 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:611876 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:612838 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:613119 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:613120 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:613123 semapv:UnspecifiedMatching +GARD:1030 Brugada syndrome skos:narrowMatch OMIM:616399 semapv:UnspecifiedMatching +GARD:10300 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch Orphanet:139450 semapv:UnspecifiedMatching +GARD:10300 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:narrowMatch OMIM:611863 semapv:UnspecifiedMatching +GARD:10301 Autosomal recessive bestrophinopathy skos:exactMatch Orphanet:139455 semapv:UnspecifiedMatching +GARD:10301 Autosomal recessive bestrophinopathy skos:narrowMatch OMIM:611809 semapv:UnspecifiedMatching +GARD:10302 SERKAL syndrome skos:exactMatch Orphanet:139466 semapv:UnspecifiedMatching +GARD:10302 SERKAL syndrome skos:narrowMatch OMIM:611812 semapv:UnspecifiedMatching +GARD:10303 Autism-facial port-wine stain syndrome skos:exactMatch Orphanet:137911 semapv:UnspecifiedMatching +GARD:10304 8p23.1 duplication syndrome skos:exactMatch Orphanet:251076 semapv:UnspecifiedMatching +GARD:10306 Nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch Orphanet:93606 semapv:UnspecifiedMatching +GARD:10306 Nephrogenic syndrome of inappropriate antidiuresis skos:narrowMatch OMIM:300539 semapv:UnspecifiedMatching +GARD:10307 Congenital disorder of glycosylation skos:exactMatch Orphanet:137 semapv:UnspecifiedMatching +GARD:10311 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency skos:exactMatch Orphanet:70592 semapv:UnspecifiedMatching +GARD:10311 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency skos:narrowMatch OMIM:607676 semapv:UnspecifiedMatching +GARD:10312 Neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch Orphanet:85146 semapv:UnspecifiedMatching +GARD:10312 Neurogenic scapuloperoneal syndrome, Kaeser type skos:narrowMatch OMIM:181400 semapv:UnspecifiedMatching +GARD:10313 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:exactMatch Orphanet:437572 semapv:UnspecifiedMatching +GARD:10313 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:narrowMatch OMIM:181430 semapv:UnspecifiedMatching +GARD:10314 Scapuloperoneal spinal muscular atrophy skos:exactMatch Orphanet:431255 semapv:UnspecifiedMatching +GARD:10314 Scapuloperoneal spinal muscular atrophy skos:narrowMatch OMIM:181405 semapv:UnspecifiedMatching +GARD:10316 Congenital multicore myopathy with external ophthalmoplegia skos:exactMatch Orphanet:98905 semapv:UnspecifiedMatching +GARD:10316 Congenital multicore myopathy with external ophthalmoplegia skos:narrowMatch OMIM:255320 semapv:UnspecifiedMatching +GARD:10317 Megaconial congenital muscular dystrophy skos:exactMatch Orphanet:280671 semapv:UnspecifiedMatching +GARD:10317 Megaconial congenital muscular dystrophy skos:narrowMatch OMIM:602541 semapv:UnspecifiedMatching +GARD:10319 Autosomal dominant prognathism skos:exactMatch Orphanet:2964 semapv:UnspecifiedMatching +GARD:10319 Autosomal dominant prognathism skos:narrowMatch OMIM:176700 semapv:UnspecifiedMatching +GARD:10320 Corneal dystrophy, lattice type iiia skos:broadMatch Orphanet:98964 semapv:UnspecifiedMatching +GARD:10320 Corneal dystrophy, lattice type iiia skos:exactMatch OMIM:608471 semapv:UnspecifiedMatching +GARD:10321 3-methylglutaconic aciduria type 1 skos:exactMatch Orphanet:67046 semapv:UnspecifiedMatching +GARD:10321 3-methylglutaconic aciduria type 1 skos:narrowMatch OMIM:250950 semapv:UnspecifiedMatching +GARD:10322 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79157 semapv:UnspecifiedMatching +GARD:10322 2-methylbutyryl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:610006 semapv:UnspecifiedMatching +GARD:10323 L-Arginine:glycine amidinotransferase deficiency skos:exactMatch Orphanet:35704 semapv:UnspecifiedMatching +GARD:10323 L-Arginine:glycine amidinotransferase deficiency skos:narrowMatch OMIM:612718 semapv:UnspecifiedMatching +GARD:10324 Mild phenylketonuria skos:exactMatch Orphanet:79253 semapv:UnspecifiedMatching +GARD:10327 Progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch Orphanet:431361 semapv:UnspecifiedMatching +GARD:10327 Progressive encephalopathy with leukodystrophy due to DECR deficiency skos:narrowMatch OMIM:616034 semapv:UnspecifiedMatching +GARD:1033 X-linked agammaglobulinemia skos:exactMatch Orphanet:47 semapv:UnspecifiedMatching +GARD:1033 X-linked agammaglobulinemia skos:narrowMatch OMIM:300310 semapv:UnspecifiedMatching +GARD:1033 X-linked agammaglobulinemia skos:narrowMatch OMIM:300755 semapv:UnspecifiedMatching +GARD:10332 Tyrosinemia type 3 skos:exactMatch Orphanet:69723 semapv:UnspecifiedMatching +GARD:10332 Tyrosinemia type 3 skos:narrowMatch OMIM:276710 semapv:UnspecifiedMatching +GARD:10333 Sickle cell-beta-thalassemia disease syndrome skos:exactMatch Orphanet:251359 semapv:UnspecifiedMatching +GARD:10335 Mucopolysaccharidosis type 1 skos:exactMatch Orphanet:579 semapv:UnspecifiedMatching +GARD:10335 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607014 semapv:UnspecifiedMatching +GARD:10335 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607015 semapv:UnspecifiedMatching +GARD:10335 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607016 semapv:UnspecifiedMatching +GARD:10339 Severe combined immunodeficiency due to complete RAG1/2 deficiency skos:exactMatch Orphanet:331206 semapv:UnspecifiedMatching +GARD:10339 Severe combined immunodeficiency due to complete RAG1/2 deficiency skos:narrowMatch OMIM:601457 semapv:UnspecifiedMatching +GARD:10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:exactMatch Orphanet:83473 semapv:UnspecifiedMatching +GARD:10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:narrowMatch OMIM:603387 semapv:UnspecifiedMatching +GARD:10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:narrowMatch OMIM:615937 semapv:UnspecifiedMatching +GARD:10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:narrowMatch OMIM:615938 semapv:UnspecifiedMatching +GARD:10342 3-methylglutaconic aciduria type 4 skos:exactMatch Orphanet:67048 semapv:UnspecifiedMatching +GARD:10342 3-methylglutaconic aciduria type 4 skos:narrowMatch OMIM:250951 semapv:UnspecifiedMatching +GARD:10346 Gamma-heavy chain disease skos:exactMatch Orphanet:100026 semapv:UnspecifiedMatching +GARD:10351 Spinocerebellar ataxia type 6 skos:exactMatch Orphanet:98758 semapv:UnspecifiedMatching +GARD:10351 Spinocerebellar ataxia type 6 skos:narrowMatch OMIM:183086 semapv:UnspecifiedMatching +GARD:10352 Familial platelet disorder with associated myeloid malignancy skos:exactMatch Orphanet:71290 semapv:UnspecifiedMatching +GARD:10352 Familial platelet disorder with associated myeloid malignancy skos:narrowMatch OMIM:601399 semapv:UnspecifiedMatching +GARD:10352 Familial platelet disorder with associated myeloid malignancy skos:narrowMatch OMIM:616216 semapv:UnspecifiedMatching +GARD:10353 Porphyria skos:exactMatch Orphanet:738 semapv:UnspecifiedMatching +GARD:10354 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:exactMatch Orphanet:496693 semapv:UnspecifiedMatching +GARD:10354 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:narrowMatch OMIM:609545 semapv:UnspecifiedMatching +GARD:10355 Familial congenital palsy of trochlear nerve skos:exactMatch Orphanet:91498 semapv:UnspecifiedMatching +GARD:10355 Familial congenital palsy of trochlear nerve skos:narrowMatch OMIM:136480 semapv:UnspecifiedMatching +GARD:10358 Intellectual disability, Birk-Barel type skos:exactMatch Orphanet:166108 semapv:UnspecifiedMatching +GARD:10358 Intellectual disability, Birk-Barel type skos:narrowMatch OMIM:612292 semapv:UnspecifiedMatching +GARD:10359 Paralysis agitans, juvenile, of hunt skos:broadMatch Orphanet:171695 semapv:UnspecifiedMatching +GARD:10359 Paralysis agitans, juvenile, of hunt skos:exactMatch OMIM:168100 semapv:UnspecifiedMatching +GARD:10360 3q29 microduplication syndrome skos:exactMatch Orphanet:251038 semapv:UnspecifiedMatching +GARD:10360 3q29 microduplication syndrome skos:narrowMatch OMIM:611936 semapv:UnspecifiedMatching +GARD:10361 Brugada syndrome 3 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:10361 Brugada syndrome 3 skos:exactMatch OMIM:611875 semapv:UnspecifiedMatching +GARD:10362 Brugada syndrome 4 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:10362 Brugada syndrome 4 skos:exactMatch OMIM:611876 semapv:UnspecifiedMatching +GARD:10363 Idiopathic trachyonychia skos:exactMatch Orphanet:79153 semapv:UnspecifiedMatching +GARD:10363 Idiopathic trachyonychia skos:narrowMatch OMIM:161050 semapv:UnspecifiedMatching +GARD:10364 Jervell and lange-nielsen syndrome 2 skos:broadMatch Orphanet:90647 semapv:UnspecifiedMatching +GARD:10364 Jervell and lange-nielsen syndrome 2 skos:exactMatch OMIM:612347 semapv:UnspecifiedMatching +GARD:10365 Dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch Orphanet:70594 semapv:UnspecifiedMatching +GARD:10365 Dopa-responsive dystonia due to sepiapterin reductase deficiency skos:narrowMatch OMIM:612716 semapv:UnspecifiedMatching +GARD:10366 Toriello-Lacassie-Droste syndrome skos:exactMatch Orphanet:3339 semapv:UnspecifiedMatching +GARD:10366 Toriello-Lacassie-Droste syndrome skos:narrowMatch OMIM:600268 semapv:UnspecifiedMatching +GARD:10367 Lelis syndrome skos:exactMatch Orphanet:140936 semapv:UnspecifiedMatching +GARD:10367 Lelis syndrome skos:narrowMatch OMIM:608290 semapv:UnspecifiedMatching +GARD:1037 Primary basilar invagination skos:exactMatch Orphanet:2285 semapv:UnspecifiedMatching +GARD:1037 Primary basilar invagination skos:narrowMatch OMIM:109500 semapv:UnspecifiedMatching +GARD:10372 Trehalase deficiency skos:exactMatch Orphanet:103909 semapv:UnspecifiedMatching +GARD:10372 Trehalase deficiency skos:narrowMatch OMIM:612119 semapv:UnspecifiedMatching +GARD:10373 Trichoepithelioma, multiple familial, 2 skos:broadMatch Orphanet:867 semapv:UnspecifiedMatching +GARD:10373 Trichoepithelioma, multiple familial, 2 skos:exactMatch OMIM:612099 semapv:UnspecifiedMatching +GARD:10376 Retinitis pigmentosa 12 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10376 Retinitis pigmentosa 12 skos:exactMatch OMIM:600105 semapv:UnspecifiedMatching +GARD:10377 Retinitis pigmentosa 6 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10377 Retinitis pigmentosa 6 skos:exactMatch OMIM:312612 semapv:UnspecifiedMatching +GARD:10378 Retinitis pigmentosa 29 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10378 Retinitis pigmentosa 29 skos:exactMatch OMIM:612165 semapv:UnspecifiedMatching +GARD:10379 Retinitis pigmentosa 41 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10379 Retinitis pigmentosa 41 skos:exactMatch OMIM:612095 semapv:UnspecifiedMatching +GARD:1038 Hereditary bullous dystrophy, macular type skos:exactMatch Orphanet:1867 semapv:UnspecifiedMatching +GARD:1038 Hereditary bullous dystrophy, macular type skos:narrowMatch OMIM:302000 semapv:UnspecifiedMatching +GARD:10380 Retinitis pigmentosa 2 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10380 Retinitis pigmentosa 2 skos:exactMatch OMIM:312600 semapv:UnspecifiedMatching +GARD:10381 Retinitis pigmentosa 3 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10381 Retinitis pigmentosa 3 skos:exactMatch OMIM:300029 semapv:UnspecifiedMatching +GARD:10382 Retinitis pigmentosa 9 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10382 Retinitis pigmentosa 9 skos:exactMatch OMIM:180104 semapv:UnspecifiedMatching +GARD:10383 Retinitis pigmentosa 11 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10383 Retinitis pigmentosa 11 skos:exactMatch OMIM:600138 semapv:UnspecifiedMatching +GARD:10384 Retinitis pigmentosa 25 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10384 Retinitis pigmentosa 25 skos:exactMatch OMIM:602772 semapv:UnspecifiedMatching +GARD:10385 Retinitis pigmentosa 14 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10385 Retinitis pigmentosa 14 skos:exactMatch OMIM:600132 semapv:UnspecifiedMatching +GARD:10386 Retinitis pigmentosa 7 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10386 Retinitis pigmentosa 7 skos:exactMatch OMIM:608133 semapv:UnspecifiedMatching +GARD:10387 Retinitis pigmentosa 17 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10387 Retinitis pigmentosa 17 skos:exactMatch OMIM:600852 semapv:UnspecifiedMatching +GARD:10388 Retinitis pigmentosa 13 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10388 Retinitis pigmentosa 13 skos:exactMatch OMIM:600059 semapv:UnspecifiedMatching +GARD:10389 Retinitis pigmentosa 24 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10389 Retinitis pigmentosa 24 skos:exactMatch OMIM:300155 semapv:UnspecifiedMatching +GARD:1039 Autosomal dominant epidermolytic ichthyosis skos:exactMatch Orphanet:312 semapv:UnspecifiedMatching +GARD:1039 Autosomal dominant epidermolytic ichthyosis skos:narrowMatch OMIM:113800 semapv:UnspecifiedMatching +GARD:1039 Autosomal dominant epidermolytic ichthyosis skos:narrowMatch OMIM:607602 semapv:UnspecifiedMatching +GARD:10390 Retinitis pigmentosa 34 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10390 Retinitis pigmentosa 34 skos:exactMatch OMIM:300605 semapv:UnspecifiedMatching +GARD:10391 Retinitis pigmentosa 23 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10391 Retinitis pigmentosa 23 skos:exactMatch OMIM:300424 semapv:UnspecifiedMatching +GARD:10392 Retinitis pigmentosa 18 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10392 Retinitis pigmentosa 18 skos:exactMatch OMIM:601414 semapv:UnspecifiedMatching +GARD:10393 Retinitis pigmentosa 22 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10393 Retinitis pigmentosa 22 skos:exactMatch OMIM:602594 semapv:UnspecifiedMatching +GARD:10394 Retinitis pigmentosa 28 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10394 Retinitis pigmentosa 28 skos:exactMatch OMIM:606068 semapv:UnspecifiedMatching +GARD:10395 Retinitis pigmentosa 32 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10395 Retinitis pigmentosa 32 skos:exactMatch OMIM:609913 semapv:UnspecifiedMatching +GARD:10396 Retinitis pigmentosa 31 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10396 Retinitis pigmentosa 31 skos:exactMatch OMIM:609923 semapv:UnspecifiedMatching +GARD:10397 Retinitis pigmentosa 26 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10397 Retinitis pigmentosa 26 skos:exactMatch OMIM:608380 semapv:UnspecifiedMatching +GARD:10398 Retinitis pigmentosa 19 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10398 Retinitis pigmentosa 19 skos:exactMatch OMIM:601718 semapv:UnspecifiedMatching +GARD:104 Ochoa syndrome skos:exactMatch Orphanet:2704 semapv:UnspecifiedMatching +GARD:104 Ochoa syndrome skos:narrowMatch OMIM:236730 semapv:UnspecifiedMatching +GARD:104 Ochoa syndrome skos:narrowMatch OMIM:615112 semapv:UnspecifiedMatching +GARD:10400 Retinitis pigmentosa 33 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10400 Retinitis pigmentosa 33 skos:exactMatch OMIM:610359 semapv:UnspecifiedMatching +GARD:10401 Retinitis pigmentosa 30 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10401 Retinitis pigmentosa 30 skos:exactMatch OMIM:607921 semapv:UnspecifiedMatching +GARD:10402 Retinitis pigmentosa 35 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10402 Retinitis pigmentosa 35 skos:exactMatch OMIM:610282 semapv:UnspecifiedMatching +GARD:10403 Retinitis pigmentosa 36 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10403 Retinitis pigmentosa 36 skos:exactMatch OMIM:610599 semapv:UnspecifiedMatching +GARD:10404 Retinitis pigmentosa 20 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10404 Retinitis pigmentosa 20 skos:exactMatch OMIM:613794 semapv:UnspecifiedMatching +GARD:10405 Retinitis pigmentosa 4 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:10405 Retinitis pigmentosa 4 skos:exactMatch OMIM:613731 semapv:UnspecifiedMatching +GARD:10407 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:exactMatch Orphanet:293987 semapv:UnspecifiedMatching +GARD:10411 Small cell carcinoma of the ovary skos:exactMatch Orphanet:370396 semapv:UnspecifiedMatching +GARD:10413 Autosomal dominant polycystic kidney disease skos:exactMatch Orphanet:730 semapv:UnspecifiedMatching +GARD:10413 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:173900 semapv:UnspecifiedMatching +GARD:10413 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:600666 semapv:UnspecifiedMatching +GARD:10413 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:613095 semapv:UnspecifiedMatching +GARD:10414 Goblet cell carcinoma skos:exactMatch Orphanet:329984 semapv:UnspecifiedMatching +GARD:10416 Homozygous familial hypercholesterolemia skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching +GARD:10416 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:143890 semapv:UnspecifiedMatching +GARD:10416 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:144010 semapv:UnspecifiedMatching +GARD:10416 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:602247 semapv:UnspecifiedMatching +GARD:10416 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:603813 semapv:UnspecifiedMatching +GARD:10417 Symptomatic form of hemochromatosis type 1 skos:exactMatch Orphanet:465508 semapv:UnspecifiedMatching +GARD:10417 Symptomatic form of hemochromatosis type 1 skos:narrowMatch OMIM:235200 semapv:UnspecifiedMatching +GARD:10418 Hemophilia skos:exactMatch Orphanet:448 semapv:UnspecifiedMatching +GARD:10419 Myotonic dystrophy skos:exactMatch Orphanet:206647 semapv:UnspecifiedMatching +GARD:10423 Coenzyme Q10 deficiency skos:exactMatch Orphanet:35656 semapv:UnspecifiedMatching +GARD:10424 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch Orphanet:199354 semapv:UnspecifiedMatching +GARD:10424 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy skos:narrowMatch OMIM:600142 semapv:UnspecifiedMatching +GARD:10427 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:181 semapv:UnspecifiedMatching +GARD:10427 X-linked hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:305100 semapv:UnspecifiedMatching +GARD:10428 Pure autonomic failure skos:exactMatch Orphanet:441 semapv:UnspecifiedMatching +GARD:10429 Autosomal dominant brachyolmia skos:exactMatch Orphanet:93304 semapv:UnspecifiedMatching +GARD:10429 Autosomal dominant brachyolmia skos:narrowMatch OMIM:113500 semapv:UnspecifiedMatching +GARD:10430 Dravet syndrome skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching +GARD:10430 Dravet syndrome skos:narrowMatch OMIM:607208 semapv:UnspecifiedMatching +GARD:10430 Dravet syndrome skos:narrowMatch OMIM:612164 semapv:UnspecifiedMatching +GARD:10430 Dravet syndrome skos:narrowMatch OMIM:615744 semapv:UnspecifiedMatching +GARD:10432 Cardiac arrhythmia, ankyrin-b-related skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:10432 Cardiac arrhythmia, ankyrin-b-related skos:exactMatch OMIM:600919 semapv:UnspecifiedMatching +GARD:10433 Long qt syndrome 5 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:10433 Long qt syndrome 5 skos:exactMatch OMIM:613695 semapv:UnspecifiedMatching +GARD:10434 Long qt syndrome 6 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:10434 Long qt syndrome 6 skos:exactMatch OMIM:613693 semapv:UnspecifiedMatching +GARD:10435 Long qt syndrome 9 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:10435 Long qt syndrome 9 skos:exactMatch OMIM:611818 semapv:UnspecifiedMatching +GARD:10436 Long qt syndrome 10 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:10436 Long qt syndrome 10 skos:exactMatch OMIM:611819 semapv:UnspecifiedMatching +GARD:10437 Long qt syndrome 11 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:10437 Long qt syndrome 11 skos:exactMatch OMIM:611820 semapv:UnspecifiedMatching +GARD:1044 Buschke-Ollendorff syndrome skos:exactMatch Orphanet:1306 semapv:UnspecifiedMatching +GARD:1044 Buschke-Ollendorff syndrome skos:narrowMatch OMIM:166700 semapv:UnspecifiedMatching +GARD:10443 Pediatric multiple sclerosis skos:exactMatch Orphanet:477738 semapv:UnspecifiedMatching +GARD:10445 Transaldolase deficiency skos:exactMatch Orphanet:101028 semapv:UnspecifiedMatching +GARD:10445 Transaldolase deficiency skos:narrowMatch OMIM:606003 semapv:UnspecifiedMatching +GARD:10453 Perry syndrome skos:exactMatch Orphanet:178509 semapv:UnspecifiedMatching +GARD:10453 Perry syndrome skos:narrowMatch OMIM:168605 semapv:UnspecifiedMatching +GARD:10457 Isolated permanent neonatal diabetes mellitus skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching +GARD:10457 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:606176 semapv:UnspecifiedMatching +GARD:10457 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618856 semapv:UnspecifiedMatching +GARD:10457 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618857 semapv:UnspecifiedMatching +GARD:10457 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618858 semapv:UnspecifiedMatching +GARD:10460 GCGR-related hyperglucagonemia skos:exactMatch Orphanet:438274 semapv:UnspecifiedMatching +GARD:10460 GCGR-related hyperglucagonemia skos:narrowMatch OMIM:619290 semapv:UnspecifiedMatching +GARD:10467 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:exactMatch Orphanet:464321 semapv:UnspecifiedMatching +GARD:10469 Spinocerebellar ataxia type 17 skos:exactMatch Orphanet:98759 semapv:UnspecifiedMatching +GARD:10469 Spinocerebellar ataxia type 17 skos:narrowMatch OMIM:607136 semapv:UnspecifiedMatching +GARD:10471 Telethonin-related limb-girdle muscular dystrophy R7 skos:exactMatch Orphanet:34514 semapv:UnspecifiedMatching +GARD:10471 Telethonin-related limb-girdle muscular dystrophy R7 skos:narrowMatch OMIM:601954 semapv:UnspecifiedMatching +GARD:10472 L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79314 semapv:UnspecifiedMatching +GARD:10472 L-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:236792 semapv:UnspecifiedMatching +GARD:10474 Spinocerebellar ataxia type 10 skos:exactMatch Orphanet:98761 semapv:UnspecifiedMatching +GARD:10474 Spinocerebellar ataxia type 10 skos:narrowMatch OMIM:603516 semapv:UnspecifiedMatching +GARD:10475 Spinocerebellar ataxia type 11 skos:exactMatch Orphanet:98767 semapv:UnspecifiedMatching +GARD:10475 Spinocerebellar ataxia type 11 skos:narrowMatch OMIM:604432 semapv:UnspecifiedMatching +GARD:10476 Spinocerebellar ataxia type 12 skos:exactMatch Orphanet:98762 semapv:UnspecifiedMatching +GARD:10476 Spinocerebellar ataxia type 12 skos:narrowMatch OMIM:604326 semapv:UnspecifiedMatching +GARD:10477 Spinocerebellar ataxia type 15/16 skos:exactMatch Orphanet:98769 semapv:UnspecifiedMatching +GARD:10477 Spinocerebellar ataxia type 15/16 skos:narrowMatch OMIM:606658 semapv:UnspecifiedMatching +GARD:10480 Spinocerebellar ataxia type 29 skos:exactMatch Orphanet:208513 semapv:UnspecifiedMatching +GARD:10480 Spinocerebellar ataxia type 29 skos:narrowMatch OMIM:117360 semapv:UnspecifiedMatching +GARD:10484 Infantile dystonia-parkinsonism skos:exactMatch Orphanet:238455 semapv:UnspecifiedMatching +GARD:10484 Infantile dystonia-parkinsonism skos:narrowMatch OMIM:613135 semapv:UnspecifiedMatching +GARD:10486 Craniopharyngioma skos:exactMatch Orphanet:54595 semapv:UnspecifiedMatching +GARD:10487 Leber congenital amaurosis 10 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10487 Leber congenital amaurosis 10 skos:exactMatch OMIM:611755 semapv:UnspecifiedMatching +GARD:10488 Leber congenital amaurosis 11 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10488 Leber congenital amaurosis 11 skos:exactMatch OMIM:613837 semapv:UnspecifiedMatching +GARD:10489 Leber congenital amaurosis 12 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10489 Leber congenital amaurosis 12 skos:exactMatch OMIM:610612 semapv:UnspecifiedMatching +GARD:1049 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch Orphanet:136 semapv:UnspecifiedMatching +GARD:1049 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:narrowMatch OMIM:125310 semapv:UnspecifiedMatching +GARD:10490 Leber congenital amaurosis 6 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10490 Leber congenital amaurosis 6 skos:exactMatch OMIM:613826 semapv:UnspecifiedMatching +GARD:10491 Langerhans cell sarcoma skos:exactMatch Orphanet:86897 semapv:UnspecifiedMatching +GARD:10493 Aggressive NK-cell leukemia skos:exactMatch Orphanet:86873 semapv:UnspecifiedMatching +GARD:10494 Meconium aspiration syndrome skos:exactMatch Orphanet:70588 semapv:UnspecifiedMatching +GARD:10496 Amyotrophic lateral sclerosis 11 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:10496 Amyotrophic lateral sclerosis 11 skos:exactMatch OMIM:612577 semapv:UnspecifiedMatching +GARD:10498 Amyotrophic lateral sclerosis 9 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:10498 Amyotrophic lateral sclerosis 9 skos:exactMatch OMIM:611895 semapv:UnspecifiedMatching +GARD:10499 Amyotrophic lateral sclerosis 8 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:10499 Amyotrophic lateral sclerosis 8 skos:exactMatch OMIM:608627 semapv:UnspecifiedMatching +GARD:105 Oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch Orphanet:2719 semapv:UnspecifiedMatching +GARD:105 Oculocerebral hypopigmentation syndrome, Cross type skos:narrowMatch OMIM:257800 semapv:UnspecifiedMatching +GARD:10500 Amyotrophic lateral sclerosis 7 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:10500 Amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:608031 semapv:UnspecifiedMatching +GARD:10501 Amyotrophic lateral sclerosis 3 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:10501 Amyotrophic lateral sclerosis 3 skos:exactMatch OMIM:606640 semapv:UnspecifiedMatching +GARD:10502 Amyotrophic lateral sclerosis type 4 skos:exactMatch Orphanet:357043 semapv:UnspecifiedMatching +GARD:10502 Amyotrophic lateral sclerosis type 4 skos:narrowMatch OMIM:602433 semapv:UnspecifiedMatching +GARD:10504 Craniorachischisis skos:exactMatch Orphanet:63260 semapv:UnspecifiedMatching +GARD:10505 Cryptophthalmia skos:exactMatch Orphanet:98562 semapv:UnspecifiedMatching +GARD:10506 Iniencephaly skos:exactMatch Orphanet:63259 semapv:UnspecifiedMatching +GARD:10508 Bartter syndrome type 4 skos:exactMatch Orphanet:89938 semapv:UnspecifiedMatching +GARD:10508 Bartter syndrome type 4 skos:narrowMatch OMIM:602522 semapv:UnspecifiedMatching +GARD:10508 Bartter syndrome type 4 skos:narrowMatch OMIM:613090 semapv:UnspecifiedMatching +GARD:10509 Acquired partial lipodystrophy skos:exactMatch Orphanet:79087 semapv:UnspecifiedMatching +GARD:10509 Acquired partial lipodystrophy skos:narrowMatch OMIM:608709 semapv:UnspecifiedMatching +GARD:1051 Caffey disease skos:exactMatch Orphanet:1310 semapv:UnspecifiedMatching +GARD:1051 Caffey disease skos:narrowMatch OMIM:114000 semapv:UnspecifiedMatching +GARD:10510 Juvenile Huntington disease skos:exactMatch Orphanet:248111 semapv:UnspecifiedMatching +GARD:10510 Juvenile Huntington disease skos:narrowMatch OMIM:143100 semapv:UnspecifiedMatching +GARD:10511 Sorsby fundus dystrophy skos:broadMatch Orphanet:59181 semapv:UnspecifiedMatching +GARD:10511 Sorsby fundus dystrophy skos:exactMatch OMIM:136900 semapv:UnspecifiedMatching +GARD:10513 Spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch Orphanet:171866 semapv:UnspecifiedMatching +GARD:10513 Spondyloepimetaphyseal dysplasia, aggrecan type skos:narrowMatch OMIM:612813 semapv:UnspecifiedMatching +GARD:10514 EAST syndrome skos:exactMatch Orphanet:199343 semapv:UnspecifiedMatching +GARD:10514 EAST syndrome skos:narrowMatch OMIM:612780 semapv:UnspecifiedMatching +GARD:10515 Congenital tracheomalacia skos:exactMatch Orphanet:95430 semapv:UnspecifiedMatching +GARD:10516 Sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch Orphanet:210115 semapv:UnspecifiedMatching +GARD:10516 Sterile multifocal osteomyelitis with periostitis and pustulosis skos:narrowMatch OMIM:612852 semapv:UnspecifiedMatching +GARD:10517 Axenfeld-rieger syndrome, type 2 skos:broadMatch Orphanet:782 semapv:UnspecifiedMatching +GARD:10517 Axenfeld-rieger syndrome, type 2 skos:exactMatch OMIM:601499 semapv:UnspecifiedMatching +GARD:10518 Orofaciodigital syndrome type 3 skos:exactMatch Orphanet:2752 semapv:UnspecifiedMatching +GARD:10518 Orofaciodigital syndrome type 3 skos:narrowMatch OMIM:258850 semapv:UnspecifiedMatching +GARD:1052 Cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch Orphanet:1375 semapv:UnspecifiedMatching +GARD:1052 Cataract-hypertrichosis-intellectual disability syndrome skos:narrowMatch OMIM:211770 semapv:UnspecifiedMatching +GARD:10520 Orofaciodigital syndrome type 9 skos:exactMatch Orphanet:141007 semapv:UnspecifiedMatching +GARD:10520 Orofaciodigital syndrome type 9 skos:narrowMatch OMIM:258865 semapv:UnspecifiedMatching +GARD:10522 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch Orphanet:330054 semapv:UnspecifiedMatching +GARD:10522 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:narrowMatch OMIM:613076 semapv:UnspecifiedMatching +GARD:10523 Combined immunodeficiency due to STIM1 deficiency skos:exactMatch Orphanet:317430 semapv:UnspecifiedMatching +GARD:10523 Combined immunodeficiency due to STIM1 deficiency skos:narrowMatch OMIM:612783 semapv:UnspecifiedMatching +GARD:10524 Combined immunodeficiency due to ORAI1 deficiency skos:exactMatch Orphanet:317428 semapv:UnspecifiedMatching +GARD:10524 Combined immunodeficiency due to ORAI1 deficiency skos:narrowMatch OMIM:612782 semapv:UnspecifiedMatching +GARD:10525 15q11.2 microdeletion syndrome skos:exactMatch Orphanet:261183 semapv:UnspecifiedMatching +GARD:10525 15q11.2 microdeletion syndrome skos:narrowMatch OMIM:615656 semapv:UnspecifiedMatching +GARD:10526 Ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch Orphanet:69083 semapv:UnspecifiedMatching +GARD:10526 Ectodermal dysplasia with natal teeth, Turnpenny type skos:narrowMatch OMIM:601345 semapv:UnspecifiedMatching +GARD:10528 Gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch Orphanet:2025 semapv:UnspecifiedMatching +GARD:10528 Gingival fibromatosis-facial dysmorphism syndrome skos:narrowMatch OMIM:228560 semapv:UnspecifiedMatching +GARD:10529 Myofibrillar myopathy skos:exactMatch Orphanet:593 semapv:UnspecifiedMatching +GARD:1053 Limited cutaneous systemic sclerosis skos:exactMatch Orphanet:220402 semapv:UnspecifiedMatching +GARD:1053 Limited cutaneous systemic sclerosis skos:narrowMatch OMIM:181750 semapv:UnspecifiedMatching +GARD:10533 X-linked dystonia-parkinsonism skos:exactMatch Orphanet:53351 semapv:UnspecifiedMatching +GARD:10533 X-linked dystonia-parkinsonism skos:narrowMatch OMIM:314250 semapv:UnspecifiedMatching +GARD:10536 Primary dystonia, DYT17 type skos:exactMatch Orphanet:370103 semapv:UnspecifiedMatching +GARD:10536 Primary dystonia, DYT17 type skos:narrowMatch OMIM:612406 semapv:UnspecifiedMatching +GARD:10537 Primary dystonia, DYT13 type skos:exactMatch Orphanet:98807 semapv:UnspecifiedMatching +GARD:10537 Primary dystonia, DYT13 type skos:narrowMatch OMIM:607671 semapv:UnspecifiedMatching +GARD:10538 Autosomal recessive spastic paraplegia type 35 skos:exactMatch Orphanet:171629 semapv:UnspecifiedMatching +GARD:10538 Autosomal recessive spastic paraplegia type 35 skos:narrowMatch OMIM:612319 semapv:UnspecifiedMatching +GARD:10539 Dystonia 16 skos:exactMatch Orphanet:210571 semapv:UnspecifiedMatching +GARD:10539 Dystonia 16 skos:narrowMatch OMIM:612067 semapv:UnspecifiedMatching +GARD:10541 Paroxysmal exertion-induced dyskinesia skos:exactMatch Orphanet:98811 semapv:UnspecifiedMatching +GARD:10541 Paroxysmal exertion-induced dyskinesia skos:narrowMatch OMIM:612126 semapv:UnspecifiedMatching +GARD:10544 Paragangliomas 2 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:10544 Paragangliomas 2 skos:exactMatch OMIM:601650 semapv:UnspecifiedMatching +GARD:10545 Paragangliomas 3 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:10545 Paragangliomas 3 skos:exactMatch OMIM:605373 semapv:UnspecifiedMatching +GARD:10546 Paragangliomas 4 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:10546 Paragangliomas 4 skos:exactMatch OMIM:115310 semapv:UnspecifiedMatching +GARD:10556 CD4+/CD56+ hematodermic neoplasm skos:exactMatch Orphanet:86870 semapv:UnspecifiedMatching +GARD:10557 22q11.2 duplication syndrome skos:exactMatch Orphanet:1727 semapv:UnspecifiedMatching +GARD:10557 22q11.2 duplication syndrome skos:narrowMatch OMIM:608363 semapv:UnspecifiedMatching +GARD:10559 Primary interstitial lung disease specific to childhood skos:exactMatch Orphanet:264665 semapv:UnspecifiedMatching +GARD:10560 AA amyloidosis skos:exactMatch Orphanet:85445 semapv:UnspecifiedMatching +GARD:10562 Nodular cutaneous amyloidosis skos:exactMatch Orphanet:137810 semapv:UnspecifiedMatching +GARD:1057 Calpain-3-related limb-girdle muscular dystrophy R1 skos:exactMatch Orphanet:267 semapv:UnspecifiedMatching +GARD:1057 Calpain-3-related limb-girdle muscular dystrophy R1 skos:narrowMatch OMIM:253600 semapv:UnspecifiedMatching +GARD:1057 Calpain-3-related limb-girdle muscular dystrophy R1 skos:narrowMatch OMIM:618129 semapv:UnspecifiedMatching +GARD:10570 Bartsocas-papas syndrome 1 skos:broadMatch Orphanet:1234 semapv:UnspecifiedMatching +GARD:10570 Bartsocas-papas syndrome 1 skos:exactMatch OMIM:263650 semapv:UnspecifiedMatching +GARD:10572 Christianson syndrome skos:exactMatch Orphanet:85278 semapv:UnspecifiedMatching +GARD:10572 Christianson syndrome skos:narrowMatch OMIM:300243 semapv:UnspecifiedMatching +GARD:10573 Camptodactyly syndrome, Guadalajara type 3 skos:exactMatch Orphanet:488434 semapv:UnspecifiedMatching +GARD:10573 Camptodactyly syndrome, Guadalajara type 3 skos:narrowMatch OMIM:611929 semapv:UnspecifiedMatching +GARD:10574 Åland Islands eye disease skos:exactMatch Orphanet:178333 semapv:UnspecifiedMatching +GARD:10574 Åland Islands eye disease skos:narrowMatch OMIM:300600 semapv:UnspecifiedMatching +GARD:10578 Hyper-IgM syndrome type 2 skos:exactMatch Orphanet:101089 semapv:UnspecifiedMatching +GARD:10578 Hyper-IgM syndrome type 2 skos:narrowMatch OMIM:605258 semapv:UnspecifiedMatching +GARD:10579 Hyper-IgM syndrome type 3 skos:exactMatch Orphanet:101090 semapv:UnspecifiedMatching +GARD:10579 Hyper-IgM syndrome type 3 skos:narrowMatch OMIM:606843 semapv:UnspecifiedMatching +GARD:1058 X-linked calvarial hyperostosis skos:exactMatch Orphanet:391327 semapv:UnspecifiedMatching +GARD:1058 X-linked calvarial hyperostosis skos:narrowMatch OMIM:302030 semapv:UnspecifiedMatching +GARD:10580 Hyper-IgM syndrome type 4 skos:exactMatch Orphanet:101091 semapv:UnspecifiedMatching +GARD:10580 Hyper-IgM syndrome type 4 skos:narrowMatch OMIM:608184 semapv:UnspecifiedMatching +GARD:10581 Hyper-IgM syndrome type 5 skos:exactMatch Orphanet:101092 semapv:UnspecifiedMatching +GARD:10581 Hyper-IgM syndrome type 5 skos:narrowMatch OMIM:608106 semapv:UnspecifiedMatching +GARD:10582 Zechi-Ceide syndrome skos:exactMatch Orphanet:217017 semapv:UnspecifiedMatching +GARD:10582 Zechi-Ceide syndrome skos:narrowMatch OMIM:612916 semapv:UnspecifiedMatching +GARD:10583 Neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch Orphanet:59303 semapv:UnspecifiedMatching +GARD:10583 Neonatal ichthyosis-sclerosing cholangitis syndrome skos:narrowMatch OMIM:607626 semapv:UnspecifiedMatching +GARD:10584 Mesomelic dysplasia, Savarirayan type skos:exactMatch Orphanet:85170 semapv:UnspecifiedMatching +GARD:10584 Mesomelic dysplasia, Savarirayan type skos:narrowMatch OMIM:605274 semapv:UnspecifiedMatching +GARD:10585 Chronic neutrophilic leukemia skos:exactMatch Orphanet:86829 semapv:UnspecifiedMatching +GARD:10586 Loeys-dietz syndrome 2 skos:broadMatch Orphanet:60030 semapv:UnspecifiedMatching +GARD:10586 Loeys-dietz syndrome 2 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:10586 Loeys-dietz syndrome 2 skos:exactMatch OMIM:610168 semapv:UnspecifiedMatching +GARD:10587 Adult-onset autosomal dominant leukodystrophy skos:exactMatch Orphanet:99027 semapv:UnspecifiedMatching +GARD:10587 Adult-onset autosomal dominant leukodystrophy skos:narrowMatch OMIM:169500 semapv:UnspecifiedMatching +GARD:10588 Loeys-dietz syndrome 4 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:10588 Loeys-dietz syndrome 4 skos:exactMatch OMIM:614816 semapv:UnspecifiedMatching +GARD:10590 Mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch Orphanet:157801 semapv:UnspecifiedMatching +GARD:10590 Mesoaxial synostotic syndactyly with phalangeal reduction skos:narrowMatch OMIM:609432 semapv:UnspecifiedMatching +GARD:10591 1q21.1 microduplication syndrome skos:exactMatch Orphanet:250994 semapv:UnspecifiedMatching +GARD:10591 1q21.1 microduplication syndrome skos:narrowMatch OMIM:612475 semapv:UnspecifiedMatching +GARD:10592 19q13.11 microdeletion syndrome skos:exactMatch Orphanet:217346 semapv:UnspecifiedMatching +GARD:10592 19q13.11 microdeletion syndrome skos:narrowMatch OMIM:613026 semapv:UnspecifiedMatching +GARD:10593 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch Orphanet:217371 semapv:UnspecifiedMatching +GARD:10593 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:narrowMatch OMIM:613070 semapv:UnspecifiedMatching +GARD:10594 Neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 semapv:UnspecifiedMatching +GARD:10594 Neurodegenerative syndrome due to cerebral folate transport deficiency skos:narrowMatch OMIM:613068 semapv:UnspecifiedMatching +GARD:10595 BNAR syndrome skos:exactMatch Orphanet:217266 semapv:UnspecifiedMatching +GARD:10595 BNAR syndrome skos:narrowMatch OMIM:608980 semapv:UnspecifiedMatching +GARD:10597 Complete androgen insensitivity syndrome skos:exactMatch Orphanet:99429 semapv:UnspecifiedMatching +GARD:10597 Complete androgen insensitivity syndrome skos:narrowMatch OMIM:300068 semapv:UnspecifiedMatching +GARD:106 Oculocerebrocutaneous syndrome skos:exactMatch Orphanet:1647 semapv:UnspecifiedMatching +GARD:106 Oculocerebrocutaneous syndrome skos:narrowMatch OMIM:164180 semapv:UnspecifiedMatching +GARD:10601 Pituitary hormone deficiency, combined 1 skos:broadMatch Orphanet:95494 semapv:UnspecifiedMatching +GARD:10601 Pituitary hormone deficiency, combined 1 skos:relatedMatch OMIM:613038 semapv:UnspecifiedMatching +GARD:10602 Combined pituitary hormone deficiencies, genetic forms skos:exactMatch Orphanet:95494 semapv:UnspecifiedMatching +GARD:10602 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:182230 semapv:UnspecifiedMatching +GARD:10602 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:262600 semapv:UnspecifiedMatching +GARD:10602 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:613986 semapv:UnspecifiedMatching +GARD:10603 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome skos:exactMatch Orphanet:231720 semapv:UnspecifiedMatching +GARD:10603 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome skos:narrowMatch OMIM:221750 semapv:UnspecifiedMatching +GARD:10604 Short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch Orphanet:85442 semapv:UnspecifiedMatching +GARD:10604 Short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:narrowMatch OMIM:262700 semapv:UnspecifiedMatching +GARD:10605 Acrocapitofemoral dysplasia skos:exactMatch Orphanet:63446 semapv:UnspecifiedMatching +GARD:10605 Acrocapitofemoral dysplasia skos:narrowMatch OMIM:607778 semapv:UnspecifiedMatching +GARD:10608 Atelosteogenesis type III skos:exactMatch Orphanet:56305 semapv:UnspecifiedMatching +GARD:10608 Atelosteogenesis type III skos:narrowMatch OMIM:108721 semapv:UnspecifiedMatching +GARD:10609 Growth delay due to insulin-like growth factor I resistance skos:exactMatch Orphanet:73273 semapv:UnspecifiedMatching +GARD:10609 Growth delay due to insulin-like growth factor I resistance skos:narrowMatch OMIM:270450 semapv:UnspecifiedMatching +GARD:1061 Campomelia, Cumming type skos:exactMatch Orphanet:1318 semapv:UnspecifiedMatching +GARD:1061 Campomelia, Cumming type skos:narrowMatch OMIM:211890 semapv:UnspecifiedMatching +GARD:10611 Spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch Orphanet:156728 semapv:UnspecifiedMatching +GARD:10611 Spondyloepimetaphyseal dysplasia, matrilin-3 type skos:narrowMatch OMIM:608728 semapv:UnspecifiedMatching +GARD:10612 Thoracomelic dysplasia skos:exactMatch Orphanet:1803 semapv:UnspecifiedMatching +GARD:10612 Thoracomelic dysplasia skos:narrowMatch OMIM:273740 semapv:UnspecifiedMatching +GARD:10614 Adrenomyeloneuropathy skos:exactMatch Orphanet:139399 semapv:UnspecifiedMatching +GARD:10614 Adrenomyeloneuropathy skos:narrowMatch OMIM:300100 semapv:UnspecifiedMatching +GARD:10615 Telangiectasia, hereditary hemorrhagic, type 4 skos:broadMatch Orphanet:774 semapv:UnspecifiedMatching +GARD:10615 Telangiectasia, hereditary hemorrhagic, type 4 skos:exactMatch OMIM:610655 semapv:UnspecifiedMatching +GARD:10616 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch Orphanet:93358 semapv:UnspecifiedMatching +GARD:10616 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:narrowMatch OMIM:271665 semapv:UnspecifiedMatching +GARD:10617 Congenital cystic eye skos:exactMatch Orphanet:519384 semapv:UnspecifiedMatching +GARD:10618 Spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch Orphanet:93356 semapv:UnspecifiedMatching +GARD:10618 Spondyloepimetaphyseal dysplasia, Missouri type skos:narrowMatch OMIM:602111 semapv:UnspecifiedMatching +GARD:10619 Osteogenesis imperfecta, type ix skos:broadMatch Orphanet:216804 semapv:UnspecifiedMatching +GARD:10619 Osteogenesis imperfecta, type ix skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:10619 Osteogenesis imperfecta, type ix skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:10619 Osteogenesis imperfecta, type ix skos:exactMatch OMIM:259440 semapv:UnspecifiedMatching +GARD:1062 Camptobrachydactyly skos:exactMatch Orphanet:1319 semapv:UnspecifiedMatching +GARD:1062 Camptobrachydactyly skos:narrowMatch OMIM:114150 semapv:UnspecifiedMatching +GARD:10620 Smith-McCort dysplasia skos:exactMatch Orphanet:178355 semapv:UnspecifiedMatching +GARD:10620 Smith-McCort dysplasia skos:narrowMatch OMIM:607326 semapv:UnspecifiedMatching +GARD:10620 Smith-McCort dysplasia skos:narrowMatch OMIM:615222 semapv:UnspecifiedMatching +GARD:10623 Cleidocranial dysplasia, recessive form skos:broadMatch Orphanet:1452 semapv:UnspecifiedMatching +GARD:10623 Cleidocranial dysplasia, recessive form skos:exactMatch OMIM:216330 semapv:UnspecifiedMatching +GARD:10624 Spondyloepiphyseal dysplasia tarda skos:exactMatch Orphanet:93284 semapv:UnspecifiedMatching +GARD:10624 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:184100 semapv:UnspecifiedMatching +GARD:10624 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:271600 semapv:UnspecifiedMatching +GARD:10624 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:313400 semapv:UnspecifiedMatching +GARD:10625 Complement component 8 deficiency, type ii skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +GARD:10625 Complement component 8 deficiency, type ii skos:exactMatch OMIM:613789 semapv:UnspecifiedMatching +GARD:10626 Complement component 8 deficiency, type i skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +GARD:10626 Complement component 8 deficiency, type i skos:exactMatch OMIM:613790 semapv:UnspecifiedMatching +GARD:10627 Growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch Orphanet:73272 semapv:UnspecifiedMatching +GARD:10627 Growth delay due to insulin-like growth factor type 1 deficiency skos:narrowMatch OMIM:608747 semapv:UnspecifiedMatching +GARD:10629 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome skos:exactMatch Orphanet:163654 semapv:UnspecifiedMatching +GARD:10629 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome skos:narrowMatch OMIM:611717 semapv:UnspecifiedMatching +GARD:1063 Idiopathic camptocormia skos:exactMatch Orphanet:1320 semapv:UnspecifiedMatching +GARD:10630 Congenital tufting enteropathy skos:exactMatch Orphanet:92050 semapv:UnspecifiedMatching +GARD:10630 Congenital tufting enteropathy skos:narrowMatch OMIM:613217 semapv:UnspecifiedMatching +GARD:10631 Pleomorphic xanthoastrocytoma skos:exactMatch Orphanet:251607 semapv:UnspecifiedMatching +GARD:10632 Subependymal giant cell astrocytoma skos:exactMatch Orphanet:251618 semapv:UnspecifiedMatching +GARD:10633 Myxopapillary ependymoma skos:exactMatch Orphanet:251643 semapv:UnspecifiedMatching +GARD:10634 Anaplastic ependymoma skos:exactMatch Orphanet:251646 semapv:UnspecifiedMatching +GARD:10635 Astroblastoma skos:exactMatch Orphanet:251679 semapv:UnspecifiedMatching +GARD:10637 Anaplastic oligoastrocytoma skos:exactMatch Orphanet:251663 semapv:UnspecifiedMatching +GARD:10638 Gangliocytoma skos:exactMatch Orphanet:251937 semapv:UnspecifiedMatching +GARD:10639 Anaplastic ganglioglioma skos:exactMatch Orphanet:251957 semapv:UnspecifiedMatching +GARD:1064 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome skos:exactMatch Orphanet:1321 semapv:UnspecifiedMatching +GARD:1064 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome skos:narrowMatch OMIM:211930 semapv:UnspecifiedMatching +GARD:10640 Dysembryoplastic neuroepithelial tumor skos:exactMatch Orphanet:251946 semapv:UnspecifiedMatching +GARD:10641 Central neurocytoma skos:exactMatch Orphanet:73256 semapv:UnspecifiedMatching +GARD:10642 Cerebellar liponeurocytoma skos:exactMatch Orphanet:251931 semapv:UnspecifiedMatching +GARD:10643 Carney-Stratakis syndrome skos:exactMatch Orphanet:97286 semapv:UnspecifiedMatching +GARD:10643 Carney-Stratakis syndrome skos:narrowMatch OMIM:606864 semapv:UnspecifiedMatching +GARD:10644 Pineal parenchymal tumor of intermediate differenciation skos:exactMatch Orphanet:251919 semapv:UnspecifiedMatching +GARD:10645 Dent disease type 2 skos:exactMatch Orphanet:93623 semapv:UnspecifiedMatching +GARD:10645 Dent disease type 2 skos:narrowMatch OMIM:300555 semapv:UnspecifiedMatching +GARD:10647 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch Orphanet:85167 semapv:UnspecifiedMatching +GARD:10647 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:narrowMatch OMIM:608940 semapv:UnspecifiedMatching +GARD:10648 Retinal cone dystrophy 3a skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +GARD:10648 Retinal cone dystrophy 3a skos:exactMatch OMIM:610024 semapv:UnspecifiedMatching +GARD:10649 Cone dystrophy with supernormal rod response skos:exactMatch Orphanet:209932 semapv:UnspecifiedMatching +GARD:10649 Cone dystrophy with supernormal rod response skos:narrowMatch OMIM:610356 semapv:UnspecifiedMatching +GARD:10650 Retinal cone dystrophy 4 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:10650 Retinal cone dystrophy 4 skos:exactMatch OMIM:610478 semapv:UnspecifiedMatching +GARD:10651 Cone-rod dystrophy 1 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:10651 Cone-rod dystrophy 1 skos:exactMatch OMIM:600624 semapv:UnspecifiedMatching +GARD:10652 Cone-rod dystrophy, x-linked, 1 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:10652 Cone-rod dystrophy, x-linked, 1 skos:exactMatch OMIM:304020 semapv:UnspecifiedMatching +GARD:10653 Cone-rod dystrophy 3 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:10653 Cone-rod dystrophy 3 skos:exactMatch OMIM:604116 semapv:UnspecifiedMatching +GARD:10654 Cone-rod dystrophy, x-linked, 3 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:10654 Cone-rod dystrophy, x-linked, 3 skos:exactMatch OMIM:300476 semapv:UnspecifiedMatching +GARD:10655 Cone-rod dystrophy 5 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:10655 Cone-rod dystrophy 5 skos:exactMatch OMIM:600977 semapv:UnspecifiedMatching +GARD:10656 Cone-rod dystrophy 6 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:10656 Cone-rod dystrophy 6 skos:exactMatch OMIM:601777 semapv:UnspecifiedMatching +GARD:10657 Maturity-onset diabetes of the young, type 2 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:10657 Maturity-onset diabetes of the young, type 2 skos:exactMatch OMIM:125851 semapv:UnspecifiedMatching +GARD:10658 Maturity-onset diabetes of the young, type 3 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:10658 Maturity-onset diabetes of the young, type 3 skos:exactMatch OMIM:600496 semapv:UnspecifiedMatching +GARD:10659 Maturity-onset diabetes of the young, type 4 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:10659 Maturity-onset diabetes of the young, type 4 skos:exactMatch OMIM:606392 semapv:UnspecifiedMatching +GARD:10660 Maturity-onset diabetes of the young, type 6 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:10660 Maturity-onset diabetes of the young, type 6 skos:exactMatch OMIM:606394 semapv:UnspecifiedMatching +GARD:10661 Maturity-onset diabetes of the young, type 7 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:10661 Maturity-onset diabetes of the young, type 7 skos:exactMatch OMIM:610508 semapv:UnspecifiedMatching +GARD:10662 Maturity-onset diabetes of the young, type 8, with exocrine dysfunction skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:10662 Maturity-onset diabetes of the young, type 8, with exocrine dysfunction skos:exactMatch OMIM:609812 semapv:UnspecifiedMatching +GARD:10663 Maturity-onset diabetes of the young, type 9 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:10663 Maturity-onset diabetes of the young, type 9 skos:exactMatch OMIM:612225 semapv:UnspecifiedMatching +GARD:10664 Baroreflex failure skos:exactMatch Orphanet:443084 semapv:UnspecifiedMatching +GARD:10667 Autosomal dominant focal dystonia, DYT25 type skos:exactMatch Orphanet:329466 semapv:UnspecifiedMatching +GARD:10667 Autosomal dominant focal dystonia, DYT25 type skos:narrowMatch OMIM:615073 semapv:UnspecifiedMatching +GARD:1067 Camptodactyly syndrome, Guadalajara type 1 skos:exactMatch Orphanet:1327 semapv:UnspecifiedMatching +GARD:1067 Camptodactyly syndrome, Guadalajara type 1 skos:narrowMatch OMIM:211910 semapv:UnspecifiedMatching +GARD:10670 Glycoproteinosis skos:exactMatch Orphanet:309279 semapv:UnspecifiedMatching +GARD:10675 Fetal Gaucher disease skos:exactMatch Orphanet:85212 semapv:UnspecifiedMatching +GARD:10675 Fetal Gaucher disease skos:narrowMatch OMIM:608013 semapv:UnspecifiedMatching +GARD:10679 UMOD-related autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:88950 semapv:UnspecifiedMatching +GARD:10679 UMOD-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:162000 semapv:UnspecifiedMatching +GARD:1068 Camptodactyly syndrome, Guadalajara type 2 skos:exactMatch Orphanet:1326 semapv:UnspecifiedMatching +GARD:1068 Camptodactyly syndrome, Guadalajara type 2 skos:narrowMatch OMIM:211920 semapv:UnspecifiedMatching +GARD:10680 Pseudohypoparathyroidism type 1B skos:exactMatch Orphanet:94089 semapv:UnspecifiedMatching +GARD:10680 Pseudohypoparathyroidism type 1B skos:narrowMatch OMIM:603233 semapv:UnspecifiedMatching +GARD:10681 Pseudohypoparathyroidism type 1C skos:exactMatch Orphanet:79444 semapv:UnspecifiedMatching +GARD:10681 Pseudohypoparathyroidism type 1C skos:narrowMatch OMIM:612462 semapv:UnspecifiedMatching +GARD:10682 Pseudohypoparathyroidism type 2 skos:exactMatch Orphanet:94090 semapv:UnspecifiedMatching +GARD:10682 Pseudohypoparathyroidism type 2 skos:narrowMatch OMIM:203330 semapv:UnspecifiedMatching +GARD:10684 Primary lateral sclerosis skos:exactMatch Orphanet:35689 semapv:UnspecifiedMatching +GARD:10684 Primary lateral sclerosis skos:narrowMatch OMIM:611637 semapv:UnspecifiedMatching +GARD:10686 Neuroferritinopathy skos:exactMatch Orphanet:157846 semapv:UnspecifiedMatching +GARD:10686 Neuroferritinopathy skos:narrowMatch OMIM:606159 semapv:UnspecifiedMatching +GARD:10688 Neurodegeneration with brain iron accumulation 2b skos:broadMatch Orphanet:35069 semapv:UnspecifiedMatching +GARD:10688 Neurodegeneration with brain iron accumulation 2b skos:exactMatch OMIM:610217 semapv:UnspecifiedMatching +GARD:1069 Camptodactyly-taurinuria syndrome skos:exactMatch Orphanet:1325 semapv:UnspecifiedMatching +GARD:10691 Duane retraction syndrome 3 with or without deafness skos:broadMatch Orphanet:233 semapv:UnspecifiedMatching +GARD:10691 Duane retraction syndrome 3 with or without deafness skos:exactMatch OMIM:617041 semapv:UnspecifiedMatching +GARD:10692 Orofaciodigital syndrome skos:exactMatch Orphanet:140997 semapv:UnspecifiedMatching +GARD:10693 Orofaciodigital syndrome type 12 skos:exactMatch Orphanet:141327 semapv:UnspecifiedMatching +GARD:10694 Orofaciodigital syndrome type 13 skos:exactMatch Orphanet:141330 semapv:UnspecifiedMatching +GARD:10695 Atrial septal defect, ostium primum type skos:exactMatch Orphanet:99106 semapv:UnspecifiedMatching +GARD:10696 Atrial septal defect, sinus venosus type skos:exactMatch Orphanet:99105 semapv:UnspecifiedMatching +GARD:10697 Atrial septal defect, coronary sinus type skos:exactMatch Orphanet:99104 semapv:UnspecifiedMatching +GARD:10698 Noonan syndrome 2 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:10698 Noonan syndrome 2 skos:exactMatch OMIM:605275 semapv:UnspecifiedMatching +GARD:10699 Noonan syndrome 4 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:10699 Noonan syndrome 4 skos:exactMatch OMIM:610733 semapv:UnspecifiedMatching +GARD:10700 Noonan syndrome 5 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:10700 Noonan syndrome 5 skos:exactMatch OMIM:611553 semapv:UnspecifiedMatching +GARD:10701 Noonan syndrome 6 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:10701 Noonan syndrome 6 skos:exactMatch OMIM:613224 semapv:UnspecifiedMatching +GARD:10704 Pontocerebellar hypoplasia type 1 skos:exactMatch Orphanet:2254 semapv:UnspecifiedMatching +GARD:10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:607596 semapv:UnspecifiedMatching +GARD:10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:614678 semapv:UnspecifiedMatching +GARD:10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:616081 semapv:UnspecifiedMatching +GARD:10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:618065 semapv:UnspecifiedMatching +GARD:10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:619303 semapv:UnspecifiedMatching +GARD:10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:619304 semapv:UnspecifiedMatching +GARD:10705 Pontocerebellar hypoplasia type 2 skos:exactMatch Orphanet:2524 semapv:UnspecifiedMatching +GARD:10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:277470 semapv:UnspecifiedMatching +GARD:10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:612389 semapv:UnspecifiedMatching +GARD:10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:612390 semapv:UnspecifiedMatching +GARD:10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:613811 semapv:UnspecifiedMatching +GARD:10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:617026 semapv:UnspecifiedMatching +GARD:10706 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome skos:exactMatch Orphanet:309854 semapv:UnspecifiedMatching +GARD:10706 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome skos:narrowMatch OMIM:613280 semapv:UnspecifiedMatching +GARD:10707 Deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch Orphanet:90024 semapv:UnspecifiedMatching +GARD:10707 Deafness with labyrinthine aplasia, microtia, and microdontia skos:narrowMatch OMIM:610706 semapv:UnspecifiedMatching +GARD:10708 Pontocerebellar hypoplasia type 3 skos:exactMatch Orphanet:97249 semapv:UnspecifiedMatching +GARD:10708 Pontocerebellar hypoplasia type 3 skos:narrowMatch OMIM:608027 semapv:UnspecifiedMatching +GARD:1071 Camptomelic syndrome, long-limb type skos:broadMatch Orphanet:140 semapv:UnspecifiedMatching +GARD:1071 Camptomelic syndrome, long-limb type skos:exactMatch OMIM:211990 semapv:UnspecifiedMatching +GARD:10710 Pontocerebellar hypoplasia type 6 skos:exactMatch Orphanet:166073 semapv:UnspecifiedMatching +GARD:10710 Pontocerebellar hypoplasia type 6 skos:narrowMatch OMIM:611523 semapv:UnspecifiedMatching +GARD:10711 Genetic peripheral neuropathy skos:exactMatch Orphanet:98497 semapv:UnspecifiedMatching +GARD:10713 Pudendal neuralgia skos:exactMatch Orphanet:60039 semapv:UnspecifiedMatching +GARD:10714 Legius syndrome skos:exactMatch Orphanet:137605 semapv:UnspecifiedMatching +GARD:10714 Legius syndrome skos:narrowMatch OMIM:611431 semapv:UnspecifiedMatching +GARD:10716 HSD10 disease skos:exactMatch Orphanet:391417 semapv:UnspecifiedMatching +GARD:10716 HSD10 disease skos:narrowMatch OMIM:300438 semapv:UnspecifiedMatching +GARD:10719 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch Orphanet:2701 semapv:UnspecifiedMatching +GARD:10719 Noonan syndrome-like disorder with loose anagen hair skos:narrowMatch OMIM:607721 semapv:UnspecifiedMatching +GARD:10719 Noonan syndrome-like disorder with loose anagen hair skos:narrowMatch OMIM:617506 semapv:UnspecifiedMatching +GARD:1072 Camurati-Engelmann disease skos:exactMatch Orphanet:1328 semapv:UnspecifiedMatching +GARD:1072 Camurati-Engelmann disease skos:narrowMatch OMIM:131300 semapv:UnspecifiedMatching +GARD:10726 Spondylocostal dysostosis 1, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +GARD:10726 Spondylocostal dysostosis 1, autosomal recessive skos:exactMatch OMIM:277300 semapv:UnspecifiedMatching +GARD:10727 Koolen-De Vries syndrome skos:exactMatch Orphanet:96169 semapv:UnspecifiedMatching +GARD:10727 Koolen-De Vries syndrome skos:narrowMatch OMIM:610443 semapv:UnspecifiedMatching +GARD:10728 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease skos:exactMatch Orphanet:439854 semapv:UnspecifiedMatching +GARD:10728 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease skos:narrowMatch OMIM:261740 semapv:UnspecifiedMatching +GARD:10729 Chronic visceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:77293 semapv:UnspecifiedMatching +GARD:10729 Chronic visceral acid sphingomyelinase deficiency skos:narrowMatch OMIM:607616 semapv:UnspecifiedMatching +GARD:10730 Pyridoxal phosphate-responsive seizures skos:exactMatch Orphanet:79096 semapv:UnspecifiedMatching +GARD:10730 Pyridoxal phosphate-responsive seizures skos:narrowMatch OMIM:610090 semapv:UnspecifiedMatching +GARD:10731 McLeod neuroacanthocytosis syndrome skos:exactMatch Orphanet:59306 semapv:UnspecifiedMatching +GARD:10731 McLeod neuroacanthocytosis syndrome skos:narrowMatch OMIM:300842 semapv:UnspecifiedMatching +GARD:10732 Leukoencephalopathy with calcifications and cysts skos:exactMatch Orphanet:542310 semapv:UnspecifiedMatching +GARD:10732 Leukoencephalopathy with calcifications and cysts skos:narrowMatch OMIM:614561 semapv:UnspecifiedMatching +GARD:10734 Pleuropulmonary blastoma familial tumor susceptibility syndrome skos:exactMatch Orphanet:284343 semapv:UnspecifiedMatching +GARD:10734 Pleuropulmonary blastoma familial tumor susceptibility syndrome skos:narrowMatch OMIM:601200 semapv:UnspecifiedMatching +GARD:10738 Primary hyperoxaluria type 3 skos:exactMatch Orphanet:93600 semapv:UnspecifiedMatching +GARD:10738 Primary hyperoxaluria type 3 skos:narrowMatch OMIM:613616 semapv:UnspecifiedMatching +GARD:10739 Neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:216 semapv:UnspecifiedMatching +GARD:10740 Proximal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261197 semapv:UnspecifiedMatching +GARD:10740 Proximal 16p11.2 microdeletion syndrome skos:narrowMatch OMIM:611913 semapv:UnspecifiedMatching +GARD:10741 Spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch Orphanet:99642 semapv:UnspecifiedMatching +GARD:10741 Spondyloepimetaphyseal dysplasia, Handigodu type skos:narrowMatch OMIM:613343 semapv:UnspecifiedMatching +GARD:10744 Conjunctival malignant melanoma skos:exactMatch Orphanet:617910 semapv:UnspecifiedMatching +GARD:10752 Epidermolysis bullosa simplex skos:exactMatch Orphanet:304 semapv:UnspecifiedMatching +GARD:10753 Pachyonychia congenita skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching +GARD:10753 Pachyonychia congenita skos:narrowMatch OMIM:167200 semapv:UnspecifiedMatching +GARD:10753 Pachyonychia congenita skos:narrowMatch OMIM:167210 semapv:UnspecifiedMatching +GARD:10753 Pachyonychia congenita skos:narrowMatch OMIM:260130 semapv:UnspecifiedMatching +GARD:10753 Pachyonychia congenita skos:narrowMatch OMIM:615726 semapv:UnspecifiedMatching +GARD:10753 Pachyonychia congenita skos:narrowMatch OMIM:615728 semapv:UnspecifiedMatching +GARD:10754 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch Orphanet:353281 semapv:UnspecifiedMatching +GARD:10754 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:narrowMatch OMIM:610543 semapv:UnspecifiedMatching +GARD:10755 16p13.3 microduplication syndrome skos:exactMatch Orphanet:96078 semapv:UnspecifiedMatching +GARD:10755 16p13.3 microduplication syndrome skos:narrowMatch OMIM:613458 semapv:UnspecifiedMatching +GARD:10756 Multiple epiphyseal dysplasia skos:exactMatch Orphanet:251 semapv:UnspecifiedMatching +GARD:10758 Pseudohypoparathyroidism skos:exactMatch Orphanet:97593 semapv:UnspecifiedMatching +GARD:10760 Glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch Orphanet:137625 semapv:UnspecifiedMatching +GARD:10760 Glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:narrowMatch OMIM:611556 semapv:UnspecifiedMatching +GARD:10761 2-hydroxyglutaric aciduria skos:exactMatch Orphanet:19 semapv:UnspecifiedMatching +GARD:10762 Hereditary arterial and articular multiple calcification syndrome skos:exactMatch Orphanet:289601 semapv:UnspecifiedMatching +GARD:10762 Hereditary arterial and articular multiple calcification syndrome skos:narrowMatch OMIM:211800 semapv:UnspecifiedMatching +GARD:10763 Duane retraction syndrome 1 skos:broadMatch Orphanet:233 semapv:UnspecifiedMatching +GARD:10763 Duane retraction syndrome 1 skos:exactMatch OMIM:126800 semapv:UnspecifiedMatching +GARD:10764 Hypermethioninemia due to glycine N-methyltransferase deficiency skos:exactMatch Orphanet:289891 semapv:UnspecifiedMatching +GARD:10764 Hypermethioninemia due to glycine N-methyltransferase deficiency skos:narrowMatch OMIM:606664 semapv:UnspecifiedMatching +GARD:10766 Congenital factor XIII deficiency skos:exactMatch Orphanet:331 semapv:UnspecifiedMatching +GARD:10766 Congenital factor XIII deficiency skos:narrowMatch OMIM:613225 semapv:UnspecifiedMatching +GARD:10766 Congenital factor XIII deficiency skos:narrowMatch OMIM:613235 semapv:UnspecifiedMatching +GARD:10767 MOGS-CDG skos:exactMatch Orphanet:79330 semapv:UnspecifiedMatching +GARD:10767 MOGS-CDG skos:narrowMatch OMIM:606056 semapv:UnspecifiedMatching +GARD:10768 Familial or sporadic hemiplegic migraine skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching +GARD:10768 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:141500 semapv:UnspecifiedMatching +GARD:10768 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:602481 semapv:UnspecifiedMatching +GARD:10768 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:607516 semapv:UnspecifiedMatching +GARD:10768 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:609634 semapv:UnspecifiedMatching +GARD:10769 Laing early-onset distal myopathy skos:exactMatch Orphanet:59135 semapv:UnspecifiedMatching +GARD:10769 Laing early-onset distal myopathy skos:narrowMatch OMIM:160500 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:exactMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:114580 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:247650 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:252250 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:607644 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613108 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613953 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613956 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:615527 semapv:UnspecifiedMatching +GARD:1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:616445 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:147950 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:244200 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:308700 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:610628 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:612370 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:612702 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:614837 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:614838 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:614840 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:614858 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:614880 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:614897 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:615266 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:615267 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:615269 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:615270 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:615271 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:616030 semapv:UnspecifiedMatching +GARD:10771 Kallmann syndrome skos:narrowMatch OMIM:618841 semapv:UnspecifiedMatching +GARD:10772 Hypogonadotropic hypogonadism 4 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:10772 Hypogonadotropic hypogonadism 4 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:10772 Hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch OMIM:610628 semapv:UnspecifiedMatching +GARD:10773 Hypogonadotropic hypogonadism 5 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:10773 Hypogonadotropic hypogonadism 5 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:10773 Hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch OMIM:612370 semapv:UnspecifiedMatching +GARD:10774 Hypogonadotropic hypogonadism 6 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:10774 Hypogonadotropic hypogonadism 6 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:10774 Hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch OMIM:612702 semapv:UnspecifiedMatching +GARD:10775 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch Orphanet:228426 semapv:UnspecifiedMatching +GARD:10775 Syndromic multisystem autoimmune disease due to Itch deficiency skos:narrowMatch OMIM:613385 semapv:UnspecifiedMatching +GARD:10777 Peritoneal cystic mesothelioma skos:exactMatch Orphanet:168816 semapv:UnspecifiedMatching +GARD:10778 Recurrent infection due to specific granule deficiency skos:exactMatch Orphanet:169142 semapv:UnspecifiedMatching +GARD:10778 Recurrent infection due to specific granule deficiency skos:narrowMatch OMIM:245480 semapv:UnspecifiedMatching +GARD:10778 Recurrent infection due to specific granule deficiency skos:narrowMatch OMIM:617475 semapv:UnspecifiedMatching +GARD:10779 CLIPPERS skos:exactMatch Orphanet:284448 semapv:UnspecifiedMatching +GARD:1078 Hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch Orphanet:2233 semapv:UnspecifiedMatching +GARD:10780 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 semapv:UnspecifiedMatching +GARD:10781 Goldmann-Favre syndrome skos:exactMatch Orphanet:53540 semapv:UnspecifiedMatching +GARD:10781 Goldmann-Favre syndrome skos:narrowMatch OMIM:268100 semapv:UnspecifiedMatching +GARD:10782 Stickler syndrome skos:exactMatch Orphanet:828 semapv:UnspecifiedMatching +GARD:10782 Stickler syndrome skos:narrowMatch OMIM:108300 semapv:UnspecifiedMatching +GARD:10782 Stickler syndrome skos:narrowMatch OMIM:604841 semapv:UnspecifiedMatching +GARD:10782 Stickler syndrome skos:narrowMatch OMIM:609508 semapv:UnspecifiedMatching +GARD:10782 Stickler syndrome skos:narrowMatch OMIM:614134 semapv:UnspecifiedMatching +GARD:10782 Stickler syndrome skos:narrowMatch OMIM:614284 semapv:UnspecifiedMatching +GARD:10783 Bilateral frontal polymicrogyria skos:exactMatch Orphanet:208444 semapv:UnspecifiedMatching +GARD:10784 Bilateral frontoparietal polymicrogyria skos:exactMatch Orphanet:101070 semapv:UnspecifiedMatching +GARD:10784 Bilateral frontoparietal polymicrogyria skos:narrowMatch OMIM:606854 semapv:UnspecifiedMatching +GARD:10785 Bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch Orphanet:208441 semapv:UnspecifiedMatching +GARD:10785 Bilateral parasagittal parieto-occipital polymicrogyria skos:narrowMatch OMIM:612691 semapv:UnspecifiedMatching +GARD:10786 Bilateral generalized polymicrogyria skos:exactMatch Orphanet:208447 semapv:UnspecifiedMatching +GARD:10788 Loeys-Dietz syndrome skos:exactMatch Orphanet:60030 semapv:UnspecifiedMatching +GARD:10788 Loeys-Dietz syndrome skos:narrowMatch OMIM:609192 semapv:UnspecifiedMatching +GARD:10788 Loeys-Dietz syndrome skos:narrowMatch OMIM:610168 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:120970 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:300476 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:300834 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:303700 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:304020 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:600624 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:600977 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:601777 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:602093 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:603649 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:604116 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:604393 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:605549 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:608194 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:610283 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:610381 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:610478 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:612657 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:612775 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:613660 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:614500 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:615163 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:615374 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:615860 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:615973 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:616502 semapv:UnspecifiedMatching +GARD:10790 Cone rod dystrophy skos:narrowMatch OMIM:618555 semapv:UnspecifiedMatching +GARD:10791 Logopenic progressive aphasia skos:exactMatch Orphanet:250831 semapv:UnspecifiedMatching +GARD:10792 Semantic dementia skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching +GARD:10792 Semantic dementia skos:narrowMatch OMIM:172700 semapv:UnspecifiedMatching +GARD:10792 Semantic dementia skos:narrowMatch OMIM:600274 semapv:UnspecifiedMatching +GARD:10793 Progressive non-fluent aphasia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching +GARD:10793 Progressive non-fluent aphasia skos:narrowMatch OMIM:172700 semapv:UnspecifiedMatching +GARD:10793 Progressive non-fluent aphasia skos:narrowMatch OMIM:600274 semapv:UnspecifiedMatching +GARD:10793 Progressive non-fluent aphasia skos:narrowMatch OMIM:607485 semapv:UnspecifiedMatching +GARD:10794 Paroxysmal hemicrania skos:exactMatch Orphanet:157835 semapv:UnspecifiedMatching +GARD:10795 Hemicrania continua skos:exactMatch Orphanet:443070 semapv:UnspecifiedMatching +GARD:10796 Hypnic headache skos:exactMatch Orphanet:276429 semapv:UnspecifiedMatching +GARD:108 Adult polyglucosan body disease skos:exactMatch Orphanet:206583 semapv:UnspecifiedMatching +GARD:108 Adult polyglucosan body disease skos:narrowMatch OMIM:263570 semapv:UnspecifiedMatching +GARD:10801 Autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:34149 semapv:UnspecifiedMatching +GARD:10801 Autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:162000 semapv:UnspecifiedMatching +GARD:10801 Autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:174000 semapv:UnspecifiedMatching +GARD:10803 Lamellar ichthyosis skos:exactMatch Orphanet:313 semapv:UnspecifiedMatching +GARD:10803 Lamellar ichthyosis skos:narrowMatch OMIM:242300 semapv:UnspecifiedMatching +GARD:10803 Lamellar ichthyosis skos:narrowMatch OMIM:601277 semapv:UnspecifiedMatching +GARD:10803 Lamellar ichthyosis skos:narrowMatch OMIM:604777 semapv:UnspecifiedMatching +GARD:10803 Lamellar ichthyosis skos:narrowMatch OMIM:606545 semapv:UnspecifiedMatching +GARD:10803 Lamellar ichthyosis skos:narrowMatch OMIM:612281 semapv:UnspecifiedMatching +GARD:10803 Lamellar ichthyosis skos:narrowMatch OMIM:613943 semapv:UnspecifiedMatching +GARD:10803 Lamellar ichthyosis skos:narrowMatch OMIM:617571 semapv:UnspecifiedMatching +GARD:10804 Metaplastic carcinoma of the breast skos:exactMatch Orphanet:213531 semapv:UnspecifiedMatching +GARD:10805 MUTYH-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:247798 semapv:UnspecifiedMatching +GARD:10805 MUTYH-related attenuated familial adenomatous polyposis skos:narrowMatch OMIM:608456 semapv:UnspecifiedMatching +GARD:10806 Female restricted epilepsy with intellectual disability skos:exactMatch Orphanet:101039 semapv:UnspecifiedMatching +GARD:10806 Female restricted epilepsy with intellectual disability skos:narrowMatch OMIM:300088 semapv:UnspecifiedMatching +GARD:10808 Insulin autoimmune syndrome skos:exactMatch Orphanet:411593 semapv:UnspecifiedMatching +GARD:10809 Postorgasmic illness syndrome skos:exactMatch Orphanet:279947 semapv:UnspecifiedMatching +GARD:10810 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch Orphanet:329308 semapv:UnspecifiedMatching +GARD:10810 Fatty acid hydroxylase-associated neurodegeneration skos:narrowMatch OMIM:612319 semapv:UnspecifiedMatching +GARD:10813 1q21.1 microdeletion syndrome skos:exactMatch Orphanet:250989 semapv:UnspecifiedMatching +GARD:10813 1q21.1 microdeletion syndrome skos:narrowMatch OMIM:612474 semapv:UnspecifiedMatching +GARD:10814 Thyrotoxic periodic paralysis skos:exactMatch Orphanet:79102 semapv:UnspecifiedMatching +GARD:10814 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:188580 semapv:UnspecifiedMatching +GARD:10814 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:613239 semapv:UnspecifiedMatching +GARD:10814 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:614834 semapv:UnspecifiedMatching +GARD:10816 Lichen planus pigmentosus skos:exactMatch Orphanet:254463 semapv:UnspecifiedMatching +GARD:10817 Autosomal dominant spastic paraplegia type 31 skos:exactMatch Orphanet:101011 semapv:UnspecifiedMatching +GARD:10817 Autosomal dominant spastic paraplegia type 31 skos:narrowMatch OMIM:610250 semapv:UnspecifiedMatching +GARD:10818 Combined malonic and methylmalonic acidemia skos:exactMatch Orphanet:289504 semapv:UnspecifiedMatching +GARD:10818 Combined malonic and methylmalonic acidemia skos:narrowMatch OMIM:614265 semapv:UnspecifiedMatching +GARD:10821 Eastern equine encephalitis skos:exactMatch Orphanet:83594 semapv:UnspecifiedMatching +GARD:10822 Idiopathic spontaneous coronary artery dissection skos:exactMatch Orphanet:458718 semapv:UnspecifiedMatching +GARD:10822 Idiopathic spontaneous coronary artery dissection skos:narrowMatch OMIM:122455 semapv:UnspecifiedMatching +GARD:10823 Obesity due to pro-opiomelanocortin deficiency skos:exactMatch Orphanet:71526 semapv:UnspecifiedMatching +GARD:10823 Obesity due to pro-opiomelanocortin deficiency skos:narrowMatch OMIM:601665 semapv:UnspecifiedMatching +GARD:10823 Obesity due to pro-opiomelanocortin deficiency skos:narrowMatch OMIM:609734 semapv:UnspecifiedMatching +GARD:10824 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch Orphanet:189427 semapv:UnspecifiedMatching +GARD:10824 Cushing syndrome due to macronodular adrenal hyperplasia skos:narrowMatch OMIM:219080 semapv:UnspecifiedMatching +GARD:10824 Cushing syndrome due to macronodular adrenal hyperplasia skos:narrowMatch OMIM:615954 semapv:UnspecifiedMatching +GARD:10828 Familial hypocalciuric hypercalcemia skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching +GARD:10828 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:145980 semapv:UnspecifiedMatching +GARD:10828 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:145981 semapv:UnspecifiedMatching +GARD:10828 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:600740 semapv:UnspecifiedMatching +GARD:10829 Hyperparathyroidism-jaw tumor syndrome skos:exactMatch Orphanet:99880 semapv:UnspecifiedMatching +GARD:10829 Hyperparathyroidism-jaw tumor syndrome skos:narrowMatch OMIM:145001 semapv:UnspecifiedMatching +GARD:10830 Nevus of Ito skos:exactMatch Orphanet:263432 semapv:UnspecifiedMatching +GARD:10837 Ring chromosome 2 syndrome skos:exactMatch Orphanet:96171 semapv:UnspecifiedMatching +GARD:10839 Ring chromosome 3 syndrome skos:exactMatch Orphanet:96172 semapv:UnspecifiedMatching +GARD:1084 Systemic capillary leak syndrome skos:exactMatch Orphanet:188 semapv:UnspecifiedMatching +GARD:10841 Ring chromosome 5 syndrome skos:exactMatch Orphanet:251043 semapv:UnspecifiedMatching +GARD:10846 Ring chromosome 11 syndrome skos:exactMatch Orphanet:96175 semapv:UnspecifiedMatching +GARD:10855 Ring chromosome 16 syndrome skos:exactMatch Orphanet:96178 semapv:UnspecifiedMatching +GARD:10860 Monosomy 21 skos:exactMatch Orphanet:574 semapv:UnspecifiedMatching +GARD:10865 Monosomy 18q skos:exactMatch Orphanet:1600 semapv:UnspecifiedMatching +GARD:10865 Monosomy 18q skos:narrowMatch OMIM:601808 semapv:UnspecifiedMatching +GARD:10867 Familial multiple trichoepithelioma skos:exactMatch Orphanet:867 semapv:UnspecifiedMatching +GARD:10867 Familial multiple trichoepithelioma skos:narrowMatch OMIM:601606 semapv:UnspecifiedMatching +GARD:10867 Familial multiple trichoepithelioma skos:narrowMatch OMIM:612099 semapv:UnspecifiedMatching +GARD:10870 Free sialic acid storage disease skos:exactMatch Orphanet:834 semapv:UnspecifiedMatching +GARD:10870 Free sialic acid storage disease skos:narrowMatch OMIM:269920 semapv:UnspecifiedMatching +GARD:10870 Free sialic acid storage disease skos:narrowMatch OMIM:604369 semapv:UnspecifiedMatching +GARD:10871 Intermediate severe Salla disease skos:exactMatch Orphanet:309331 semapv:UnspecifiedMatching +GARD:10872 Malignant peripheral nerve sheath tumor skos:exactMatch Orphanet:3148 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:270100 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:306955 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:601086 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:605376 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:606325 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:613751 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:614779 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:616749 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:617205 semapv:UnspecifiedMatching +GARD:10875 Heterotaxia skos:narrowMatch OMIM:618948 semapv:UnspecifiedMatching +GARD:10876 Congenital radioulnar synostosis skos:exactMatch Orphanet:3269 semapv:UnspecifiedMatching +GARD:10876 Congenital radioulnar synostosis skos:narrowMatch OMIM:179300 semapv:UnspecifiedMatching +GARD:10877 Familial tumoral calcinosis skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching +GARD:10877 Familial tumoral calcinosis skos:narrowMatch OMIM:211900 semapv:UnspecifiedMatching +GARD:10877 Familial tumoral calcinosis skos:narrowMatch OMIM:610455 semapv:UnspecifiedMatching +GARD:10878 Familial normophosphatemic tumoral calcinosis skos:exactMatch Orphanet:306658 semapv:UnspecifiedMatching +GARD:10878 Familial normophosphatemic tumoral calcinosis skos:narrowMatch OMIM:610455 semapv:UnspecifiedMatching +GARD:10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching +GARD:10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome skos:narrowMatch OMIM:211900 semapv:UnspecifiedMatching +GARD:10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome skos:narrowMatch OMIM:617993 semapv:UnspecifiedMatching +GARD:10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome skos:narrowMatch OMIM:617994 semapv:UnspecifiedMatching +GARD:10880 Leber congenital amaurosis 7 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10880 Leber congenital amaurosis 7 skos:exactMatch OMIM:613829 semapv:UnspecifiedMatching +GARD:10881 Leber congenital amaurosis 8 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10881 Leber congenital amaurosis 8 skos:exactMatch OMIM:613835 semapv:UnspecifiedMatching +GARD:10882 Leber congenital amaurosis 13 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10882 Leber congenital amaurosis 13 skos:exactMatch OMIM:612712 semapv:UnspecifiedMatching +GARD:10883 Leber congenital amaurosis 14 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10883 Leber congenital amaurosis 14 skos:exactMatch OMIM:613341 semapv:UnspecifiedMatching +GARD:10884 Leber congenital amaurosis 15 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10884 Leber congenital amaurosis 15 skos:exactMatch OMIM:613843 semapv:UnspecifiedMatching +GARD:10885 Leber congenital amaurosis 16 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:10885 Leber congenital amaurosis 16 skos:exactMatch OMIM:614186 semapv:UnspecifiedMatching +GARD:10886 Frontal fibrosing alopecia skos:exactMatch Orphanet:254492 semapv:UnspecifiedMatching +GARD:10887 Osteofibrous dysplasia skos:exactMatch Orphanet:488265 semapv:UnspecifiedMatching +GARD:10887 Osteofibrous dysplasia skos:narrowMatch OMIM:607278 semapv:UnspecifiedMatching +GARD:10889 HANAC syndrome skos:exactMatch Orphanet:73229 semapv:UnspecifiedMatching +GARD:10889 HANAC syndrome skos:narrowMatch OMIM:611773 semapv:UnspecifiedMatching +GARD:10890 Non-involuting congenital hemangioma skos:exactMatch Orphanet:141179 semapv:UnspecifiedMatching +GARD:10891 GM1 gangliosidosis skos:exactMatch Orphanet:354 semapv:UnspecifiedMatching +GARD:10891 GM1 gangliosidosis skos:narrowMatch OMIM:230500 semapv:UnspecifiedMatching +GARD:10891 GM1 gangliosidosis skos:narrowMatch OMIM:230600 semapv:UnspecifiedMatching +GARD:10891 GM1 gangliosidosis skos:narrowMatch OMIM:230650 semapv:UnspecifiedMatching +GARD:10892 Blepharophimosis-intellectual disability syndrome skos:exactMatch Orphanet:293642 semapv:UnspecifiedMatching +GARD:10898 Primary acquired pure red cell aplasia skos:exactMatch Orphanet:98872 semapv:UnspecifiedMatching +GARD:10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch Orphanet:52430 semapv:UnspecifiedMatching +GARD:10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:narrowMatch OMIM:167320 semapv:UnspecifiedMatching +GARD:10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:narrowMatch OMIM:615422 semapv:UnspecifiedMatching +GARD:10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:narrowMatch OMIM:615424 semapv:UnspecifiedMatching +GARD:109 Progressive osseous heteroplasia skos:exactMatch Orphanet:2762 semapv:UnspecifiedMatching +GARD:109 Progressive osseous heteroplasia skos:narrowMatch OMIM:166350 semapv:UnspecifiedMatching +GARD:10900 Hereditary diffuse gastric cancer skos:exactMatch Orphanet:26106 semapv:UnspecifiedMatching +GARD:10900 Hereditary diffuse gastric cancer skos:narrowMatch OMIM:137215 semapv:UnspecifiedMatching +GARD:10902 Neuroacanthocytosis skos:exactMatch Orphanet:263440 semapv:UnspecifiedMatching +GARD:10903 Brachyolmia skos:exactMatch Orphanet:1293 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:exactMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:127550 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:224230 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:305000 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:613987 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:613988 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:613989 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:613990 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:615190 semapv:UnspecifiedMatching +GARD:10905 Dyskeratosis congenita skos:narrowMatch OMIM:616353 semapv:UnspecifiedMatching +GARD:10906 Primary pigmented nodular adrenocortical disease skos:exactMatch Orphanet:189439 semapv:UnspecifiedMatching +GARD:10906 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:610475 semapv:UnspecifiedMatching +GARD:10906 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:610489 semapv:UnspecifiedMatching +GARD:10906 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:614190 semapv:UnspecifiedMatching +GARD:10906 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:615830 semapv:UnspecifiedMatching +GARD:10907 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch Orphanet:317476 semapv:UnspecifiedMatching +GARD:10907 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:narrowMatch OMIM:300853 semapv:UnspecifiedMatching +GARD:10909 Adult-onset foveomacular vitelliform dystrophy skos:exactMatch Orphanet:99000 semapv:UnspecifiedMatching +GARD:10909 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:153840 semapv:UnspecifiedMatching +GARD:10909 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:608161 semapv:UnspecifiedMatching +GARD:10909 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:616151 semapv:UnspecifiedMatching +GARD:10909 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:616152 semapv:UnspecifiedMatching +GARD:10910 Medial condensing osteitis of the clavicle skos:exactMatch Orphanet:57196 semapv:UnspecifiedMatching +GARD:10911 Autoimmune pancreatitis skos:exactMatch Orphanet:103919 semapv:UnspecifiedMatching +GARD:10913 Griscelli syndrome skos:exactMatch Orphanet:381 semapv:UnspecifiedMatching +GARD:10913 Griscelli syndrome skos:narrowMatch OMIM:214450 semapv:UnspecifiedMatching +GARD:10913 Griscelli syndrome skos:narrowMatch OMIM:607624 semapv:UnspecifiedMatching +GARD:10913 Griscelli syndrome skos:narrowMatch OMIM:609227 semapv:UnspecifiedMatching +GARD:10914 Familial avascular necrosis of femoral head skos:exactMatch Orphanet:86820 semapv:UnspecifiedMatching +GARD:10914 Familial avascular necrosis of femoral head skos:narrowMatch OMIM:608805 semapv:UnspecifiedMatching +GARD:10914 Familial avascular necrosis of femoral head skos:narrowMatch OMIM:617383 semapv:UnspecifiedMatching +GARD:10915 X-linked lymphoproliferative disease skos:exactMatch Orphanet:2442 semapv:UnspecifiedMatching +GARD:10915 X-linked lymphoproliferative disease skos:narrowMatch OMIM:300635 semapv:UnspecifiedMatching +GARD:10915 X-linked lymphoproliferative disease skos:narrowMatch OMIM:308240 semapv:UnspecifiedMatching +GARD:10916 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch Orphanet:538934 semapv:UnspecifiedMatching +GARD:10916 X-linked lymphoproliferative disease due to XIAP deficiency skos:narrowMatch OMIM:300635 semapv:UnspecifiedMatching +GARD:10917 Hypomyelination with atrophy of basal ganglia and cerebellum skos:exactMatch Orphanet:139441 semapv:UnspecifiedMatching +GARD:10917 Hypomyelination with atrophy of basal ganglia and cerebellum skos:narrowMatch OMIM:612438 semapv:UnspecifiedMatching +GARD:10917 Hypomyelination with atrophy of basal ganglia and cerebellum skos:narrowMatch OMIM:617899 semapv:UnspecifiedMatching +GARD:10919 Pontine tegmental cap dysplasia skos:exactMatch Orphanet:269229 semapv:UnspecifiedMatching +GARD:10919 Pontine tegmental cap dysplasia skos:narrowMatch OMIM:614688 semapv:UnspecifiedMatching +GARD:10921 Intraneural perineurioma skos:exactMatch Orphanet:100003 semapv:UnspecifiedMatching +GARD:10922 49,XXXYY syndrome skos:exactMatch Orphanet:261534 semapv:UnspecifiedMatching +GARD:10923 Erythrokeratoderma variabilis progressiva skos:exactMatch Orphanet:308166 semapv:UnspecifiedMatching +GARD:10924 Carney triad skos:exactMatch Orphanet:139411 semapv:UnspecifiedMatching +GARD:10924 Carney triad skos:narrowMatch OMIM:604287 semapv:UnspecifiedMatching +GARD:10925 La Crosse encephalitis skos:exactMatch Orphanet:83483 semapv:UnspecifiedMatching +GARD:10927 Cryopyrin-associated periodic syndrome skos:exactMatch Orphanet:208650 semapv:UnspecifiedMatching +GARD:10929 Nodular regenerative hyperplasia of the liver skos:exactMatch Orphanet:48372 semapv:UnspecifiedMatching +GARD:1093 Progressive familial heart block, type ia skos:broadMatch Orphanet:871 semapv:UnspecifiedMatching +GARD:1093 Progressive familial heart block, type ia skos:exactMatch OMIM:113900 semapv:UnspecifiedMatching +GARD:10933 Microcephaly, seizures, and developmental delay skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:10933 Microcephaly, seizures, and developmental delay skos:exactMatch OMIM:613402 semapv:UnspecifiedMatching +GARD:10934 Monocytopenia with susceptibility to infections skos:exactMatch Orphanet:228423 semapv:UnspecifiedMatching +GARD:10934 Monocytopenia with susceptibility to infections skos:narrowMatch OMIM:614172 semapv:UnspecifiedMatching +GARD:10935 16q24.3 microdeletion syndrome skos:exactMatch Orphanet:261250 semapv:UnspecifiedMatching +GARD:10936 17q23.1q23.2 microdeletion syndrome skos:exactMatch Orphanet:261279 semapv:UnspecifiedMatching +GARD:10936 17q23.1q23.2 microdeletion syndrome skos:narrowMatch OMIM:613355 semapv:UnspecifiedMatching +GARD:10937 Lipodystrophy, congenital generalized, type 4 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +GARD:10937 Lipodystrophy, congenital generalized, type 4 skos:exactMatch OMIM:613327 semapv:UnspecifiedMatching +GARD:10938 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:exactMatch Orphanet:231736 semapv:UnspecifiedMatching +GARD:10939 CLOVES syndrome skos:exactMatch Orphanet:140944 semapv:UnspecifiedMatching +GARD:10939 CLOVES syndrome skos:narrowMatch OMIM:612918 semapv:UnspecifiedMatching +GARD:1094 Cardiac diverticulum skos:exactMatch Orphanet:1686 semapv:UnspecifiedMatching +GARD:10940 Superior limbic keratoconjunctivitis skos:exactMatch Orphanet:88633 semapv:UnspecifiedMatching +GARD:10941 Anterior uveitis skos:exactMatch Orphanet:280886 semapv:UnspecifiedMatching +GARD:10942 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:exactMatch Orphanet:238763 semapv:UnspecifiedMatching +GARD:10942 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:narrowMatch OMIM:251750 semapv:UnspecifiedMatching +GARD:10943 1q44 microdeletion syndrome skos:exactMatch Orphanet:238769 semapv:UnspecifiedMatching +GARD:10944 COG6-CGD skos:exactMatch Orphanet:464443 semapv:UnspecifiedMatching +GARD:10944 COG6-CGD skos:narrowMatch OMIM:614576 semapv:UnspecifiedMatching +GARD:10945 Short stature-optic atrophy-Pelger-Huët anomaly syndrome skos:exactMatch Orphanet:391677 semapv:UnspecifiedMatching +GARD:10945 Short stature-optic atrophy-Pelger-Huët anomaly syndrome skos:narrowMatch OMIM:614800 semapv:UnspecifiedMatching +GARD:10946 Corticosteroid-sensitive aseptic abscess syndrome skos:exactMatch Orphanet:54251 semapv:UnspecifiedMatching +GARD:10947 UV-sensitive syndrome skos:exactMatch Orphanet:178338 semapv:UnspecifiedMatching +GARD:10947 UV-sensitive syndrome skos:narrowMatch OMIM:600630 semapv:UnspecifiedMatching +GARD:10947 UV-sensitive syndrome skos:narrowMatch OMIM:614621 semapv:UnspecifiedMatching +GARD:10947 UV-sensitive syndrome skos:narrowMatch OMIM:614640 semapv:UnspecifiedMatching +GARD:10948 Erythropoietic uroporphyria associated with myeloid malignancy skos:exactMatch Orphanet:280379 semapv:UnspecifiedMatching +GARD:10949 Non-24-hour sleep-wake syndrome skos:exactMatch Orphanet:73267 semapv:UnspecifiedMatching +GARD:10951 Necrobiotic xanthogranuloma skos:exactMatch Orphanet:158011 semapv:UnspecifiedMatching +GARD:10954 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch Orphanet:6 semapv:UnspecifiedMatching +GARD:10954 3-methylcrotonyl-CoA carboxylase deficiency skos:narrowMatch OMIM:210200 semapv:UnspecifiedMatching +GARD:10954 3-methylcrotonyl-CoA carboxylase deficiency skos:narrowMatch OMIM:210210 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:163950 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:605275 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:609942 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:610733 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:611553 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:613224 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:613706 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:615355 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:616559 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:616564 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:618499 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:618624 semapv:UnspecifiedMatching +GARD:10955 Noonan syndrome skos:narrowMatch OMIM:619087 semapv:UnspecifiedMatching +GARD:10956 Hyper-IgE syndrome skos:exactMatch Orphanet:331223 semapv:UnspecifiedMatching +GARD:10957 IRIDA syndrome skos:exactMatch Orphanet:209981 semapv:UnspecifiedMatching +GARD:10957 IRIDA syndrome skos:narrowMatch OMIM:206200 semapv:UnspecifiedMatching +GARD:10958 Oculocutaneous albinism skos:exactMatch Orphanet:55 semapv:UnspecifiedMatching +GARD:10959 Familial isolated pituitary adenoma skos:exactMatch Orphanet:314777 semapv:UnspecifiedMatching +GARD:10959 Familial isolated pituitary adenoma skos:narrowMatch OMIM:102200 semapv:UnspecifiedMatching +GARD:1096 FLNA-related X-linked myxomatous valvular dysplasia skos:exactMatch Orphanet:555877 semapv:UnspecifiedMatching +GARD:1096 FLNA-related X-linked myxomatous valvular dysplasia skos:narrowMatch OMIM:314400 semapv:UnspecifiedMatching +GARD:10962 TEMPI syndrome skos:exactMatch Orphanet:284227 semapv:UnspecifiedMatching +GARD:10964 Chronic graft versus host disease skos:exactMatch Orphanet:99921 semapv:UnspecifiedMatching +GARD:10965 FGFR2-related bent bone dysplasia skos:exactMatch Orphanet:313855 semapv:UnspecifiedMatching +GARD:10965 FGFR2-related bent bone dysplasia skos:narrowMatch OMIM:614592 semapv:UnspecifiedMatching +GARD:10966 Systemic-onset juvenile idiopathic arthritis skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching +GARD:10966 Systemic-onset juvenile idiopathic arthritis skos:narrowMatch OMIM:604302 semapv:UnspecifiedMatching +GARD:10966 Systemic-onset juvenile idiopathic arthritis skos:narrowMatch OMIM:618795 semapv:UnspecifiedMatching +GARD:10969 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch Orphanet:85438 semapv:UnspecifiedMatching +GARD:10970 Psoriasis-related juvenile idiopathic arthritis skos:exactMatch Orphanet:85436 semapv:UnspecifiedMatching +GARD:10972 Distal monosomy 17q skos:exactMatch Orphanet:1597 semapv:UnspecifiedMatching +GARD:10973 Adult neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching +GARD:10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:162350 semapv:UnspecifiedMatching +GARD:10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204300 semapv:UnspecifiedMatching +GARD:10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +GARD:10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:601780 semapv:UnspecifiedMatching +GARD:10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +GARD:10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:614706 semapv:UnspecifiedMatching +GARD:10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:615362 semapv:UnspecifiedMatching +GARD:10974 Migraine, familial hemiplegic, 3 skos:broadMatch Orphanet:569 semapv:UnspecifiedMatching +GARD:10974 Migraine, familial hemiplegic, 3 skos:exactMatch OMIM:609634 semapv:UnspecifiedMatching +GARD:10977 Non-syndromic pontocerebellar hypoplasia skos:exactMatch Orphanet:98523 semapv:UnspecifiedMatching +GARD:10980 Autoimmune polyendocrinopathy type 3 skos:exactMatch Orphanet:227982 semapv:UnspecifiedMatching +GARD:10981 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch Orphanet:313808 semapv:UnspecifiedMatching +GARD:10981 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:narrowMatch OMIM:221820 semapv:UnspecifiedMatching +GARD:10983 Disseminated superficial actinic porokeratosis skos:exactMatch Orphanet:79152 semapv:UnspecifiedMatching +GARD:10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:175900 semapv:UnspecifiedMatching +GARD:10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:607728 semapv:UnspecifiedMatching +GARD:10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:612293 semapv:UnspecifiedMatching +GARD:10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:612353 semapv:UnspecifiedMatching +GARD:10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:614714 semapv:UnspecifiedMatching +GARD:10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:616063 semapv:UnspecifiedMatching +GARD:10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:616631 semapv:UnspecifiedMatching +GARD:10984 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch Orphanet:319552 semapv:UnspecifiedMatching +GARD:10984 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:narrowMatch OMIM:614891 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:exactMatch Orphanet:54260 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:601493 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:601494 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:604169 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:609470 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:611878 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:613424 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:613426 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:615092 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:615373 semapv:UnspecifiedMatching +GARD:10985 Left ventricular noncompaction skos:narrowMatch OMIM:615396 semapv:UnspecifiedMatching +GARD:10986 Granulomatous slack skin skos:exactMatch Orphanet:33111 semapv:UnspecifiedMatching +GARD:10989 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome skos:exactMatch Orphanet:363649 semapv:UnspecifiedMatching +GARD:10989 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome skos:narrowMatch OMIM:615381 semapv:UnspecifiedMatching +GARD:10991 19p13.12 microdeletion syndrome skos:exactMatch Orphanet:254346 semapv:UnspecifiedMatching +GARD:10992 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome skos:exactMatch Orphanet:254343 semapv:UnspecifiedMatching +GARD:10992 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome skos:narrowMatch OMIM:613672 semapv:UnspecifiedMatching +GARD:10994 Genitopatellar syndrome skos:exactMatch Orphanet:85201 semapv:UnspecifiedMatching +GARD:10994 Genitopatellar syndrome skos:narrowMatch OMIM:606170 semapv:UnspecifiedMatching +GARD:10995 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch Orphanet:402364 semapv:UnspecifiedMatching +GARD:10995 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:narrowMatch OMIM:613668 semapv:UnspecifiedMatching +GARD:10996 Distal 17p13.1 microdeletion syndrome skos:exactMatch Orphanet:319171 semapv:UnspecifiedMatching +GARD:10997 Aneurysm-osteoarthritis syndrome skos:exactMatch Orphanet:284984 semapv:UnspecifiedMatching +GARD:10997 Aneurysm-osteoarthritis syndrome skos:narrowMatch OMIM:613795 semapv:UnspecifiedMatching +GARD:10998 2q23.1 microdeletion syndrome skos:exactMatch Orphanet:228402 semapv:UnspecifiedMatching +GARD:10998 2q23.1 microdeletion syndrome skos:narrowMatch OMIM:156200 semapv:UnspecifiedMatching +GARD:10999 Severe intellectual disability and progressive spastic paraplegia skos:exactMatch Orphanet:280763 semapv:UnspecifiedMatching +GARD:10999 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:612936 semapv:UnspecifiedMatching +GARD:10999 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:613744 semapv:UnspecifiedMatching +GARD:10999 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:614066 semapv:UnspecifiedMatching +GARD:10999 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:614067 semapv:UnspecifiedMatching +GARD:11 Alternating hemiplegia of childhood skos:exactMatch Orphanet:2131 semapv:UnspecifiedMatching +GARD:11 Alternating hemiplegia of childhood skos:narrowMatch OMIM:104290 semapv:UnspecifiedMatching +GARD:11 Alternating hemiplegia of childhood skos:narrowMatch OMIM:614820 semapv:UnspecifiedMatching +GARD:1100 Noonan syndrome with multiple lentigines skos:exactMatch Orphanet:500 semapv:UnspecifiedMatching +GARD:1100 Noonan syndrome with multiple lentigines skos:narrowMatch OMIM:151100 semapv:UnspecifiedMatching +GARD:1100 Noonan syndrome with multiple lentigines skos:narrowMatch OMIM:611554 semapv:UnspecifiedMatching +GARD:1100 Noonan syndrome with multiple lentigines skos:narrowMatch OMIM:613707 semapv:UnspecifiedMatching +GARD:11000 Constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch Orphanet:319651 semapv:UnspecifiedMatching +GARD:11000 Constitutional megaloblastic anemia with severe neurologic disease skos:narrowMatch OMIM:613839 semapv:UnspecifiedMatching +GARD:11003 Karyomegalic interstitial nephritis skos:exactMatch Orphanet:401996 semapv:UnspecifiedMatching +GARD:11003 Karyomegalic interstitial nephritis skos:narrowMatch OMIM:614817 semapv:UnspecifiedMatching +GARD:11004 Linear and whorled nevoid hypermelanosis skos:exactMatch Orphanet:79150 semapv:UnspecifiedMatching +GARD:11004 Linear and whorled nevoid hypermelanosis skos:narrowMatch OMIM:614323 semapv:UnspecifiedMatching +GARD:11005 Febrile infection-related epilepsy syndrome skos:exactMatch Orphanet:163703 semapv:UnspecifiedMatching +GARD:11006 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:exactMatch Orphanet:300501 semapv:UnspecifiedMatching +GARD:11007 Onychocytic matricoma skos:exactMatch Orphanet:300504 semapv:UnspecifiedMatching +GARD:11008 Nestor-Guillermo progeria syndrome skos:exactMatch Orphanet:280576 semapv:UnspecifiedMatching +GARD:11008 Nestor-Guillermo progeria syndrome skos:narrowMatch OMIM:614008 semapv:UnspecifiedMatching +GARD:11009 Chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch Orphanet:280586 semapv:UnspecifiedMatching +GARD:11009 Chondrodysplasia with joint dislocations, gPAPP type skos:narrowMatch OMIM:614078 semapv:UnspecifiedMatching +GARD:11010 Hereditary sensorimotor neuropathy with hyperelastic skin skos:exactMatch Orphanet:280598 semapv:UnspecifiedMatching +GARD:11010 Hereditary sensorimotor neuropathy with hyperelastic skin skos:narrowMatch OMIM:608895 semapv:UnspecifiedMatching +GARD:11011 Multifocal motor neuropathy skos:exactMatch Orphanet:641 semapv:UnspecifiedMatching +GARD:1102 Cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch Orphanet:1345 semapv:UnspecifiedMatching +GARD:1104 Cardiomyopathy, dilated, 1a skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:1104 Cardiomyopathy, dilated, 1a skos:exactMatch OMIM:115200 semapv:UnspecifiedMatching +GARD:111 Recurrent respiratory papillomatosis skos:exactMatch Orphanet:60032 semapv:UnspecifiedMatching +GARD:1118 3MC syndrome skos:exactMatch Orphanet:293843 semapv:UnspecifiedMatching +GARD:1118 3MC syndrome skos:narrowMatch OMIM:248340 semapv:UnspecifiedMatching +GARD:1118 3MC syndrome skos:narrowMatch OMIM:257920 semapv:UnspecifiedMatching +GARD:1118 3MC syndrome skos:narrowMatch OMIM:265050 semapv:UnspecifiedMatching +GARD:1119 Carney complex skos:exactMatch Orphanet:1359 semapv:UnspecifiedMatching +GARD:1119 Carney complex skos:narrowMatch OMIM:160980 semapv:UnspecifiedMatching +GARD:1119 Carney complex skos:narrowMatch OMIM:605244 semapv:UnspecifiedMatching +GARD:112 Infant acute respiratory distress syndrome skos:exactMatch Orphanet:70587 semapv:UnspecifiedMatching +GARD:112 Infant acute respiratory distress syndrome skos:narrowMatch OMIM:267450 semapv:UnspecifiedMatching +GARD:1120 Carnitine palmitoyl transferase 1A deficiency skos:exactMatch Orphanet:156 semapv:UnspecifiedMatching +GARD:1120 Carnitine palmitoyl transferase 1A deficiency skos:narrowMatch OMIM:255120 semapv:UnspecifiedMatching +GARD:1121 Carnitine palmitoyltransferase II deficiency skos:exactMatch Orphanet:157 semapv:UnspecifiedMatching +GARD:1121 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:255110 semapv:UnspecifiedMatching +GARD:1121 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:600649 semapv:UnspecifiedMatching +GARD:1121 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:608836 semapv:UnspecifiedMatching +GARD:1123 Carnitine-acylcarnitine translocase deficiency skos:exactMatch Orphanet:159 semapv:UnspecifiedMatching +GARD:1123 Carnitine-acylcarnitine translocase deficiency skos:narrowMatch OMIM:212138 semapv:UnspecifiedMatching +GARD:1128 Carpotarsal osteochondromatosis skos:exactMatch Orphanet:2767 semapv:UnspecifiedMatching +GARD:1128 Carpotarsal osteochondromatosis skos:narrowMatch OMIM:127820 semapv:UnspecifiedMatching +GARD:1130 Idiopathic chronic eosinophilic pneumonia skos:exactMatch Orphanet:2902 semapv:UnspecifiedMatching +GARD:1133 X-linked intellectual disability, Stocco Dos Santos type skos:exactMatch Orphanet:85288 semapv:UnspecifiedMatching +GARD:1133 X-linked intellectual disability, Stocco Dos Santos type skos:narrowMatch OMIM:300434 semapv:UnspecifiedMatching +GARD:1139 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1366 semapv:UnspecifiedMatching +GARD:1139 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:narrowMatch OMIM:212360 semapv:UnspecifiedMatching +GARD:114 X-linked Charcot-Marie-Tooth disease type 5 skos:exactMatch Orphanet:99014 semapv:UnspecifiedMatching +GARD:114 X-linked Charcot-Marie-Tooth disease type 5 skos:narrowMatch OMIM:311070 semapv:UnspecifiedMatching +GARD:1140 Early-onset anterior polar cataract skos:exactMatch Orphanet:98988 semapv:UnspecifiedMatching +GARD:1140 Early-onset anterior polar cataract skos:narrowMatch OMIM:601202 semapv:UnspecifiedMatching +GARD:1141 Cataract-ataxia-deafness syndrome skos:exactMatch Orphanet:1368 semapv:UnspecifiedMatching +GARD:1141 Cataract-ataxia-deafness syndrome skos:narrowMatch OMIM:212710 semapv:UnspecifiedMatching +GARD:1142 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:exactMatch Orphanet:1369 semapv:UnspecifiedMatching +GARD:1142 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:narrowMatch OMIM:212350 semapv:UnspecifiedMatching +GARD:1142 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:narrowMatch OMIM:615418 semapv:UnspecifiedMatching +GARD:1144 Cataract 4, multiple types skos:broadMatch Orphanet:1377 semapv:UnspecifiedMatching +GARD:1144 Cataract 4, multiple types skos:exactMatch OMIM:115700 semapv:UnspecifiedMatching +GARD:1155 Cataract-microcornea syndrome skos:exactMatch Orphanet:1377 semapv:UnspecifiedMatching +GARD:1155 Cataract-microcornea syndrome skos:narrowMatch OMIM:115700 semapv:UnspecifiedMatching +GARD:1155 Cataract-microcornea syndrome skos:narrowMatch OMIM:116200 semapv:UnspecifiedMatching +GARD:1155 Cataract-microcornea syndrome skos:narrowMatch OMIM:601547 semapv:UnspecifiedMatching +GARD:1155 Cataract-microcornea syndrome skos:narrowMatch OMIM:604219 semapv:UnspecifiedMatching +GARD:1159 Total early-onset cataract skos:exactMatch Orphanet:98994 semapv:UnspecifiedMatching +GARD:1159 Total early-onset cataract skos:narrowMatch OMIM:601547 semapv:UnspecifiedMatching +GARD:1159 Total early-onset cataract skos:narrowMatch OMIM:616509 semapv:UnspecifiedMatching +GARD:1159 Total early-onset cataract skos:narrowMatch OMIM:618415 semapv:UnspecifiedMatching +GARD:116 Alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch Orphanet:79279 semapv:UnspecifiedMatching +GARD:116 Alpha-N-acetylgalactosaminidase deficiency type 1 skos:narrowMatch OMIM:609241 semapv:UnspecifiedMatching +GARD:1160 Cataract-glaucoma syndrome skos:exactMatch Orphanet:162 semapv:UnspecifiedMatching +GARD:1163 Caudal appendage-deafness syndrome skos:exactMatch Orphanet:1123 semapv:UnspecifiedMatching +GARD:1164 Caudal duplication skos:exactMatch Orphanet:1756 semapv:UnspecifiedMatching +GARD:1164 Caudal duplication skos:narrowMatch OMIM:607864 semapv:UnspecifiedMatching +GARD:1167 Acrocardiofacial syndrome skos:exactMatch Orphanet:2008 semapv:UnspecifiedMatching +GARD:1167 Acrocardiofacial syndrome skos:narrowMatch OMIM:600460 semapv:UnspecifiedMatching +GARD:117 Schinzel-Giedion syndrome skos:exactMatch Orphanet:798 semapv:UnspecifiedMatching +GARD:117 Schinzel-Giedion syndrome skos:narrowMatch OMIM:269150 semapv:UnspecifiedMatching +GARD:118 Ulnar-mammary syndrome skos:exactMatch Orphanet:3138 semapv:UnspecifiedMatching +GARD:118 Ulnar-mammary syndrome skos:narrowMatch OMIM:181450 semapv:UnspecifiedMatching +GARD:11855 Ameloblastic carcinoma skos:exactMatch Orphanet:314422 semapv:UnspecifiedMatching +GARD:1188 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch Orphanet:1171 semapv:UnspecifiedMatching +GARD:1188 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:narrowMatch OMIM:601338 semapv:UnspecifiedMatching +GARD:1189 Cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch Orphanet:1174 semapv:UnspecifiedMatching +GARD:1189 Cerebellar ataxia-ectodermal dysplasia syndrome skos:narrowMatch OMIM:212835 semapv:UnspecifiedMatching +GARD:11890 Peroxisome biogenesis disorder skos:exactMatch Orphanet:79189 semapv:UnspecifiedMatching +GARD:11892 Spinal arteriovenous metameric syndrome skos:exactMatch Orphanet:53721 semapv:UnspecifiedMatching +GARD:11893 Mandibuloacral dysplasia skos:exactMatch Orphanet:2457 semapv:UnspecifiedMatching +GARD:11893 Mandibuloacral dysplasia skos:narrowMatch OMIM:248370 semapv:UnspecifiedMatching +GARD:11893 Mandibuloacral dysplasia skos:narrowMatch OMIM:608612 semapv:UnspecifiedMatching +GARD:11894 Pulmonary alveolar microlithiasis skos:exactMatch Orphanet:60025 semapv:UnspecifiedMatching +GARD:11894 Pulmonary alveolar microlithiasis skos:narrowMatch OMIM:265100 semapv:UnspecifiedMatching +GARD:11895 Pellucid marginal degeneration skos:exactMatch Orphanet:137672 semapv:UnspecifiedMatching +GARD:11897 Progressive cone dystrophy skos:exactMatch Orphanet:1871 semapv:UnspecifiedMatching +GARD:11897 Progressive cone dystrophy skos:narrowMatch OMIM:180020 semapv:UnspecifiedMatching +GARD:11897 Progressive cone dystrophy skos:narrowMatch OMIM:300085 semapv:UnspecifiedMatching +GARD:11897 Progressive cone dystrophy skos:narrowMatch OMIM:304030 semapv:UnspecifiedMatching +GARD:11897 Progressive cone dystrophy skos:narrowMatch OMIM:602093 semapv:UnspecifiedMatching +GARD:11897 Progressive cone dystrophy skos:narrowMatch OMIM:613093 semapv:UnspecifiedMatching +GARD:11898 Linear lichen planus skos:exactMatch Orphanet:254379 semapv:UnspecifiedMatching +GARD:11899 Neurodegeneration with brain iron accumulation skos:exactMatch Orphanet:385 semapv:UnspecifiedMatching +GARD:11901 Juvenile amyotrophic lateral sclerosis skos:exactMatch Orphanet:300605 semapv:UnspecifiedMatching +GARD:11901 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:205100 semapv:UnspecifiedMatching +GARD:11901 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:602099 semapv:UnspecifiedMatching +GARD:11901 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:614373 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:254190 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:254210 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:254300 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:601462 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:603034 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:605809 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:608930 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:608931 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:610542 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:614198 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:614750 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:615120 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616040 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616224 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616227 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616228 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616304 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616313 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616314 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616321 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616322 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616323 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616324 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616325 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616326 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616330 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616720 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:617143 semapv:UnspecifiedMatching +GARD:11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:617239 semapv:UnspecifiedMatching +GARD:11903 Immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:exactMatch Orphanet:70593 semapv:UnspecifiedMatching +GARD:11904 Capillary malformation-arteriovenous malformation skos:exactMatch Orphanet:137667 semapv:UnspecifiedMatching +GARD:11904 Capillary malformation-arteriovenous malformation skos:narrowMatch OMIM:608354 semapv:UnspecifiedMatching +GARD:11906 Cylindrical spirals myopathy skos:exactMatch Orphanet:171886 semapv:UnspecifiedMatching +GARD:11907 Acute panmyelosis with myelofibrosis skos:exactMatch Orphanet:86843 semapv:UnspecifiedMatching +GARD:11908 Dirofilariasis skos:exactMatch Orphanet:166291 semapv:UnspecifiedMatching +GARD:1191 Autosomal recessive progressive external ophthalmoplegia skos:exactMatch Orphanet:254886 semapv:UnspecifiedMatching +GARD:1191 Autosomal recessive progressive external ophthalmoplegia skos:narrowMatch OMIM:258450 semapv:UnspecifiedMatching +GARD:1191 Autosomal recessive progressive external ophthalmoplegia skos:narrowMatch OMIM:617069 semapv:UnspecifiedMatching +GARD:11910 Atypical Werner syndrome skos:exactMatch Orphanet:79474 semapv:UnspecifiedMatching +GARD:11911 Deafness-infertility syndrome skos:exactMatch Orphanet:94064 semapv:UnspecifiedMatching +GARD:11911 Deafness-infertility syndrome skos:narrowMatch OMIM:611102 semapv:UnspecifiedMatching +GARD:11914 Heritable pulmonary arterial hypertension skos:exactMatch Orphanet:275777 semapv:UnspecifiedMatching +GARD:11914 Heritable pulmonary arterial hypertension skos:narrowMatch OMIM:178600 semapv:UnspecifiedMatching +GARD:11914 Heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615342 semapv:UnspecifiedMatching +GARD:11915 Cap myopathy skos:exactMatch Orphanet:171881 semapv:UnspecifiedMatching +GARD:11915 Cap myopathy skos:narrowMatch OMIM:609284 semapv:UnspecifiedMatching +GARD:11915 Cap myopathy skos:narrowMatch OMIM:609285 semapv:UnspecifiedMatching +GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:exactMatch Orphanet:98784 semapv:UnspecifiedMatching +GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:600513 semapv:UnspecifiedMatching +GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:603204 semapv:UnspecifiedMatching +GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:605375 semapv:UnspecifiedMatching +GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:610353 semapv:UnspecifiedMatching +GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:615005 semapv:UnspecifiedMatching +GARD:11923 Small cell carcinoma of the bladder skos:exactMatch Orphanet:284400 semapv:UnspecifiedMatching +GARD:11925 X-linked centronuclear myopathy skos:exactMatch Orphanet:596 semapv:UnspecifiedMatching +GARD:11925 X-linked centronuclear myopathy skos:narrowMatch OMIM:310400 semapv:UnspecifiedMatching +GARD:11927 Hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch Orphanet:456318 semapv:UnspecifiedMatching +GARD:11927 Hereditary sensory neuropathy-deafness-dementia syndrome skos:narrowMatch OMIM:614116 semapv:UnspecifiedMatching +GARD:1195 Endosteal sclerosis-cerebellar hypoplasia syndrome skos:exactMatch Orphanet:85186 semapv:UnspecifiedMatching +GARD:11951 Rhabdomyosarcoma skos:exactMatch Orphanet:780 semapv:UnspecifiedMatching +GARD:11951 Rhabdomyosarcoma skos:narrowMatch OMIM:268210 semapv:UnspecifiedMatching +GARD:11951 Rhabdomyosarcoma skos:narrowMatch OMIM:268220 semapv:UnspecifiedMatching +GARD:11953 Non-Hodgkin lymphoma skos:exactMatch Orphanet:547 semapv:UnspecifiedMatching +GARD:11953 Non-Hodgkin lymphoma skos:narrowMatch OMIM:605027 semapv:UnspecifiedMatching +GARD:1196 Cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:2246 semapv:UnspecifiedMatching +GARD:1196 Cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:narrowMatch OMIM:213000 semapv:UnspecifiedMatching +GARD:11962 Familial partial lipodystrophy skos:exactMatch Orphanet:98306 semapv:UnspecifiedMatching +GARD:11971 Renal nutcracker syndrome skos:exactMatch Orphanet:71273 semapv:UnspecifiedMatching +GARD:11972 Autosomal dominant optic atrophy skos:exactMatch Orphanet:98672 semapv:UnspecifiedMatching +GARD:11973 Angioimmunoblastic T-cell lymphoma skos:exactMatch Orphanet:86886 semapv:UnspecifiedMatching +GARD:11974 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 semapv:UnspecifiedMatching +GARD:11974 3q29 microdeletion syndrome skos:narrowMatch OMIM:609425 semapv:UnspecifiedMatching +GARD:11979 Autoimmune encephalitis skos:exactMatch Orphanet:622014 semapv:UnspecifiedMatching +GARD:11980 Hypomyelination-congenital cataract syndrome skos:exactMatch Orphanet:85163 semapv:UnspecifiedMatching +GARD:11980 Hypomyelination-congenital cataract syndrome skos:narrowMatch OMIM:610532 semapv:UnspecifiedMatching +GARD:11982 Primary membranoproliferative glomerulonephritis skos:exactMatch Orphanet:54370 semapv:UnspecifiedMatching +GARD:11982 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:305800 semapv:UnspecifiedMatching +GARD:11982 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +GARD:11982 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:614809 semapv:UnspecifiedMatching +GARD:11982 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +GARD:11983 Activated PI3K-delta syndrome skos:exactMatch Orphanet:397596 semapv:UnspecifiedMatching +GARD:11983 Activated PI3K-delta syndrome skos:narrowMatch OMIM:615513 semapv:UnspecifiedMatching +GARD:11983 Activated PI3K-delta syndrome skos:narrowMatch OMIM:616005 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:exactMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:115310 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:168000 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:171300 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:601650 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:605373 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:614165 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:618464 semapv:UnspecifiedMatching +GARD:11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:618475 semapv:UnspecifiedMatching +GARD:11985 48,XYYY syndrome skos:exactMatch Orphanet:99329 semapv:UnspecifiedMatching +GARD:1199 Autosomal recessive cerebelloparenchymal disorder type 3 skos:exactMatch Orphanet:1170 semapv:UnspecifiedMatching +GARD:1199 Autosomal recessive cerebelloparenchymal disorder type 3 skos:narrowMatch OMIM:213200 semapv:UnspecifiedMatching +GARD:11992 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies skos:exactMatch Orphanet:306431 semapv:UnspecifiedMatching +GARD:12 Hypersensitivity pneumonitis skos:exactMatch Orphanet:31740 semapv:UnspecifiedMatching +GARD:1200 Hydrocephaly-cerebellar agenesis syndrome skos:exactMatch Orphanet:1397 semapv:UnspecifiedMatching +GARD:1200 Hydrocephaly-cerebellar agenesis syndrome skos:narrowMatch OMIM:307010 semapv:UnspecifiedMatching +GARD:12008 Congenital tracheal stenosis skos:exactMatch Orphanet:141127 semapv:UnspecifiedMatching +GARD:12008 Congenital tracheal stenosis skos:narrowMatch OMIM:603569 semapv:UnspecifiedMatching +GARD:12010 Isolated biliary atresia skos:exactMatch Orphanet:30391 semapv:UnspecifiedMatching +GARD:12010 Isolated biliary atresia skos:narrowMatch OMIM:210500 semapv:UnspecifiedMatching +GARD:12011 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E skos:exactMatch Orphanet:93114 semapv:UnspecifiedMatching +GARD:12011 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E skos:narrowMatch OMIM:614455 semapv:UnspecifiedMatching +GARD:12015 Lipoblastoma skos:exactMatch Orphanet:247762 semapv:UnspecifiedMatching +GARD:12016 Primary melanoma of the central nervous system skos:exactMatch Orphanet:252050 semapv:UnspecifiedMatching +GARD:12027 Differentiated thyroid carcinoma skos:exactMatch Orphanet:146 semapv:UnspecifiedMatching +GARD:12027 Differentiated thyroid carcinoma skos:narrowMatch OMIM:188550 semapv:UnspecifiedMatching +GARD:12027 Differentiated thyroid carcinoma skos:narrowMatch OMIM:607464 semapv:UnspecifiedMatching +GARD:12032 Levocardia skos:exactMatch Orphanet:95854 semapv:UnspecifiedMatching +GARD:12033 Nemaline myopathy skos:exactMatch Orphanet:607 semapv:UnspecifiedMatching +GARD:12036 Facial onset sensory and motor neuronopathy skos:exactMatch Orphanet:85162 semapv:UnspecifiedMatching +GARD:12048 Immunotactoid glomerulopathy skos:exactMatch Orphanet:97567 semapv:UnspecifiedMatching +GARD:12059 GM3 synthase deficiency skos:exactMatch Orphanet:370933 semapv:UnspecifiedMatching +GARD:12059 GM3 synthase deficiency skos:narrowMatch OMIM:609056 semapv:UnspecifiedMatching +GARD:12062 Visual snow syndrome skos:exactMatch Orphanet:420556 semapv:UnspecifiedMatching +GARD:12074 Oculo-auriculo-vertebral spectrum skos:exactMatch Orphanet:141132 semapv:UnspecifiedMatching +GARD:12076 7q11.23 microduplication syndrome skos:exactMatch Orphanet:96121 semapv:UnspecifiedMatching +GARD:12076 7q11.23 microduplication syndrome skos:narrowMatch OMIM:609757 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:exactMatch Orphanet:2542 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:156850 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:251600 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:610093 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:611038 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:613094 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:613517 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:613704 semapv:UnspecifiedMatching +GARD:12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:615113 semapv:UnspecifiedMatching +GARD:12097 Lysosomal acid lipase deficiency skos:exactMatch Orphanet:275761 semapv:UnspecifiedMatching +GARD:12097 Lysosomal acid lipase deficiency skos:narrowMatch OMIM:278000 semapv:UnspecifiedMatching +GARD:12099 Cholesteryl ester storage disease skos:exactMatch Orphanet:75234 semapv:UnspecifiedMatching +GARD:12099 Cholesteryl ester storage disease skos:narrowMatch OMIM:278000 semapv:UnspecifiedMatching +GARD:121 Focal facial dermal dysplasia type III skos:exactMatch Orphanet:1807 semapv:UnspecifiedMatching +GARD:121 Focal facial dermal dysplasia type III skos:narrowMatch OMIM:227260 semapv:UnspecifiedMatching +GARD:1210 Cerebrofaciothoracic dysplasia skos:exactMatch Orphanet:1394 semapv:UnspecifiedMatching +GARD:1210 Cerebrofaciothoracic dysplasia skos:narrowMatch OMIM:213980 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:156200 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:612580 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:612581 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:612621 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:613970 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614113 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614254 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614255 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614256 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614257 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614563 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:615828 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:616083 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:616393 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:616579 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:616977 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:617796 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:617798 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:617799 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:617854 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:618095 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:618106 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:618330 semapv:UnspecifiedMatching +GARD:12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:619188 semapv:UnspecifiedMatching +GARD:12109 Trichothiodystrophy skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching +GARD:12109 Trichothiodystrophy skos:narrowMatch OMIM:234050 semapv:UnspecifiedMatching +GARD:12109 Trichothiodystrophy skos:narrowMatch OMIM:300953 semapv:UnspecifiedMatching +GARD:12109 Trichothiodystrophy skos:narrowMatch OMIM:601675 semapv:UnspecifiedMatching +GARD:12109 Trichothiodystrophy skos:narrowMatch OMIM:616390 semapv:UnspecifiedMatching +GARD:12109 Trichothiodystrophy skos:narrowMatch OMIM:616395 semapv:UnspecifiedMatching +GARD:12109 Trichothiodystrophy skos:narrowMatch OMIM:616943 semapv:UnspecifiedMatching +GARD:12109 Trichothiodystrophy skos:narrowMatch OMIM:618546 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:251200 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:603802 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:604317 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:604321 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:604804 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:608393 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:608716 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:612703 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:614673 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:614852 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616051 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616080 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616402 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616486 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616681 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617090 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617800 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617914 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617983 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617984 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617985 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:618179 semapv:UnspecifiedMatching +GARD:12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:618351 semapv:UnspecifiedMatching +GARD:12123 Congenital absence of upper arm and forearm with hand present skos:exactMatch Orphanet:294975 semapv:UnspecifiedMatching +GARD:12124 Macrophage activation syndrome skos:exactMatch Orphanet:158061 semapv:UnspecifiedMatching +GARD:12125 Plasmablastic lymphoma skos:exactMatch Orphanet:289666 semapv:UnspecifiedMatching +GARD:12128 Methylmalonic acidemia with homocystinuria, type cblC skos:exactMatch Orphanet:79282 semapv:UnspecifiedMatching +GARD:12128 Methylmalonic acidemia with homocystinuria, type cblC skos:narrowMatch OMIM:277400 semapv:UnspecifiedMatching +GARD:12144 Dopa-responsive dystonia skos:exactMatch Orphanet:255 semapv:UnspecifiedMatching +GARD:12162 Reducing body myopathy skos:exactMatch Orphanet:97239 semapv:UnspecifiedMatching +GARD:12162 Reducing body myopathy skos:narrowMatch OMIM:300717 semapv:UnspecifiedMatching +GARD:12162 Reducing body myopathy skos:narrowMatch OMIM:300718 semapv:UnspecifiedMatching +GARD:12163 Brain-lung-thyroid syndrome skos:exactMatch Orphanet:209905 semapv:UnspecifiedMatching +GARD:12163 Brain-lung-thyroid syndrome skos:narrowMatch OMIM:610978 semapv:UnspecifiedMatching +GARD:12166 5q14.3 microdeletion syndrome skos:exactMatch Orphanet:228384 semapv:UnspecifiedMatching +GARD:12166 5q14.3 microdeletion syndrome skos:narrowMatch OMIM:613443 semapv:UnspecifiedMatching +GARD:1217 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch Orphanet:247691 semapv:UnspecifiedMatching +GARD:1217 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:narrowMatch OMIM:192315 semapv:UnspecifiedMatching +GARD:12173 CDKL5-deficiency disorder skos:exactMatch Orphanet:505652 semapv:UnspecifiedMatching +GARD:12173 CDKL5-deficiency disorder skos:narrowMatch OMIM:300672 semapv:UnspecifiedMatching +GARD:1218 CLN10 disease skos:exactMatch Orphanet:228337 semapv:UnspecifiedMatching +GARD:1218 CLN10 disease skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +GARD:12185 Benign recurrent intrahepatic cholestasis skos:exactMatch Orphanet:65682 semapv:UnspecifiedMatching +GARD:12185 Benign recurrent intrahepatic cholestasis skos:narrowMatch OMIM:243300 semapv:UnspecifiedMatching +GARD:12185 Benign recurrent intrahepatic cholestasis skos:narrowMatch OMIM:605479 semapv:UnspecifiedMatching +GARD:1219 CLN1 disease skos:exactMatch Orphanet:228329 semapv:UnspecifiedMatching +GARD:1219 CLN1 disease skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +GARD:12199 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome skos:exactMatch Orphanet:439212 semapv:UnspecifiedMatching +GARD:12199 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome skos:narrowMatch OMIM:614399 semapv:UnspecifiedMatching +GARD:122 Singleton-Merten dysplasia skos:exactMatch Orphanet:85191 semapv:UnspecifiedMatching +GARD:122 Singleton-Merten dysplasia skos:narrowMatch OMIM:182250 semapv:UnspecifiedMatching +GARD:122 Singleton-Merten dysplasia skos:narrowMatch OMIM:616298 semapv:UnspecifiedMatching +GARD:1220 CLN7 disease skos:exactMatch Orphanet:228366 semapv:UnspecifiedMatching +GARD:1220 CLN7 disease skos:narrowMatch OMIM:610951 semapv:UnspecifiedMatching +GARD:12219 15q24 microdeletion syndrome skos:exactMatch Orphanet:94065 semapv:UnspecifiedMatching +GARD:12219 15q24 microdeletion syndrome skos:narrowMatch OMIM:613406 semapv:UnspecifiedMatching +GARD:1222 CLN4B disease skos:exactMatch Orphanet:228343 semapv:UnspecifiedMatching +GARD:1222 CLN4B disease skos:narrowMatch OMIM:162350 semapv:UnspecifiedMatching +GARD:1223 CLN5 disease skos:exactMatch Orphanet:228360 semapv:UnspecifiedMatching +GARD:1223 CLN5 disease skos:narrowMatch OMIM:256731 semapv:UnspecifiedMatching +GARD:12232 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia skos:exactMatch Orphanet:284324 semapv:UnspecifiedMatching +GARD:12232 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia skos:narrowMatch OMIM:609270 semapv:UnspecifiedMatching +GARD:12234 Autosomal recessive ataxia, Beauce type skos:exactMatch Orphanet:88644 semapv:UnspecifiedMatching +GARD:12234 Autosomal recessive ataxia, Beauce type skos:narrowMatch OMIM:610743 semapv:UnspecifiedMatching +GARD:1224 CLN6 disease skos:exactMatch Orphanet:228363 semapv:UnspecifiedMatching +GARD:1224 CLN6 disease skos:narrowMatch OMIM:601780 semapv:UnspecifiedMatching +GARD:12241 Familial lipoprotein lipase deficiency skos:exactMatch Orphanet:309015 semapv:UnspecifiedMatching +GARD:12241 Familial lipoprotein lipase deficiency skos:narrowMatch OMIM:144250 semapv:UnspecifiedMatching +GARD:12241 Familial lipoprotein lipase deficiency skos:narrowMatch OMIM:238600 semapv:UnspecifiedMatching +GARD:12244 New-onset refractory status epilepticus skos:exactMatch Orphanet:363558 semapv:UnspecifiedMatching +GARD:12251 Isolated ectopia lentis skos:exactMatch Orphanet:1885 semapv:UnspecifiedMatching +GARD:12251 Isolated ectopia lentis skos:narrowMatch OMIM:129600 semapv:UnspecifiedMatching +GARD:12251 Isolated ectopia lentis skos:narrowMatch OMIM:225100 semapv:UnspecifiedMatching +GARD:12251 Isolated ectopia lentis skos:narrowMatch OMIM:225200 semapv:UnspecifiedMatching +GARD:12257 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch Orphanet:300857 semapv:UnspecifiedMatching +GARD:1226 Cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch Orphanet:2218 semapv:UnspecifiedMatching +GARD:1226 Cervical hypertrichosis-peripheral neuropathy syndrome skos:narrowMatch OMIM:239840 semapv:UnspecifiedMatching +GARD:12264 COL4A1-related familial vascular leukoencephalopathy skos:exactMatch Orphanet:36383 semapv:UnspecifiedMatching +GARD:12264 COL4A1-related familial vascular leukoencephalopathy skos:narrowMatch OMIM:175780 semapv:UnspecifiedMatching +GARD:12267 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:exactMatch Orphanet:88642 semapv:UnspecifiedMatching +GARD:12267 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:narrowMatch OMIM:243000 semapv:UnspecifiedMatching +GARD:12280 Central congenital hypothyroidism skos:exactMatch Orphanet:226298 semapv:UnspecifiedMatching +GARD:12281 Chronic atrial and intestinal dysrhythmia syndrome skos:exactMatch Orphanet:435988 semapv:UnspecifiedMatching +GARD:12281 Chronic atrial and intestinal dysrhythmia syndrome skos:narrowMatch OMIM:616201 semapv:UnspecifiedMatching +GARD:12291 Lissencephaly skos:exactMatch Orphanet:48471 semapv:UnspecifiedMatching +GARD:12299 Bradyopsia skos:exactMatch Orphanet:75374 semapv:UnspecifiedMatching +GARD:12299 Bradyopsia skos:narrowMatch OMIM:608415 semapv:UnspecifiedMatching +GARD:12300 Pelizaeus-Merzbacher-like disease skos:exactMatch Orphanet:280270 semapv:UnspecifiedMatching +GARD:12300 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:260600 semapv:UnspecifiedMatching +GARD:12300 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:300523 semapv:UnspecifiedMatching +GARD:12300 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:608804 semapv:UnspecifiedMatching +GARD:12300 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:612233 semapv:UnspecifiedMatching +GARD:12301 Thomsen and Becker disease skos:exactMatch Orphanet:614 semapv:UnspecifiedMatching +GARD:12301 Thomsen and Becker disease skos:narrowMatch OMIM:160800 semapv:UnspecifiedMatching +GARD:12301 Thomsen and Becker disease skos:narrowMatch OMIM:255700 semapv:UnspecifiedMatching +GARD:12308 Celiac artery compression syndrome skos:exactMatch Orphanet:293208 semapv:UnspecifiedMatching +GARD:12311 Congenital lactase deficiency skos:exactMatch Orphanet:53690 semapv:UnspecifiedMatching +GARD:12311 Congenital lactase deficiency skos:narrowMatch OMIM:223000 semapv:UnspecifiedMatching +GARD:12312 IMAGe syndrome skos:exactMatch Orphanet:85173 semapv:UnspecifiedMatching +GARD:12312 IMAGe syndrome skos:narrowMatch OMIM:614732 semapv:UnspecifiedMatching +GARD:12314 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome skos:exactMatch Orphanet:391487 semapv:UnspecifiedMatching +GARD:12314 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome skos:narrowMatch OMIM:614162 semapv:UnspecifiedMatching +GARD:12315 Alacrimia-choreoathetosis-liver dysfunction syndrome skos:exactMatch Orphanet:404454 semapv:UnspecifiedMatching +GARD:12315 Alacrimia-choreoathetosis-liver dysfunction syndrome skos:narrowMatch OMIM:615273 semapv:UnspecifiedMatching +GARD:12316 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:exactMatch Orphanet:436159 semapv:UnspecifiedMatching +GARD:12316 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:narrowMatch OMIM:616100 semapv:UnspecifiedMatching +GARD:12328 Hereditary sensory and autonomic neuropathy type 5 skos:exactMatch Orphanet:64752 semapv:UnspecifiedMatching +GARD:12328 Hereditary sensory and autonomic neuropathy type 5 skos:narrowMatch OMIM:608654 semapv:UnspecifiedMatching +GARD:1233 CHAND syndrome skos:exactMatch Orphanet:1401 semapv:UnspecifiedMatching +GARD:1233 CHAND syndrome skos:narrowMatch OMIM:214350 semapv:UnspecifiedMatching +GARD:12331 Intestinal lymphangiectasia skos:exactMatch Orphanet:36204 semapv:UnspecifiedMatching +GARD:12335 Carcinosarcoma of the corpus uteri skos:exactMatch Orphanet:213610 semapv:UnspecifiedMatching +GARD:12338 Transcobalamin deficiency skos:exactMatch Orphanet:859 semapv:UnspecifiedMatching +GARD:12338 Transcobalamin deficiency skos:narrowMatch OMIM:275350 semapv:UnspecifiedMatching +GARD:1234 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:exactMatch Orphanet:2235 semapv:UnspecifiedMatching +GARD:12344 Rare lichen planus skos:exactMatch Orphanet:254367 semapv:UnspecifiedMatching +GARD:12347 Dihydropyrimidinuria skos:exactMatch Orphanet:38874 semapv:UnspecifiedMatching +GARD:12347 Dihydropyrimidinuria skos:narrowMatch OMIM:222748 semapv:UnspecifiedMatching +GARD:12348 COG5-CDG skos:exactMatch Orphanet:263487 semapv:UnspecifiedMatching +GARD:12348 COG5-CDG skos:narrowMatch OMIM:613612 semapv:UnspecifiedMatching +GARD:1235 Multifocal atrial tachycardia skos:exactMatch Orphanet:3282 semapv:UnspecifiedMatching +GARD:12351 Breast-ovarian cancer, familial, susceptibility to, 1 skos:broadMatch Orphanet:145 semapv:UnspecifiedMatching +GARD:12351 Breast-ovarian cancer, familial, susceptibility to, 1 skos:exactMatch OMIM:604370 semapv:UnspecifiedMatching +GARD:12352 Breast-ovarian cancer, familial, susceptibility to, 2 skos:broadMatch Orphanet:145 semapv:UnspecifiedMatching +GARD:12352 Breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch OMIM:612555 semapv:UnspecifiedMatching +GARD:12353 Autosomal recessive axonal neuropathy with neuromyotonia skos:exactMatch Orphanet:324442 semapv:UnspecifiedMatching +GARD:12353 Autosomal recessive axonal neuropathy with neuromyotonia skos:narrowMatch OMIM:137200 semapv:UnspecifiedMatching +GARD:12354 Distal renal tubular acidosis with anemia skos:exactMatch Orphanet:93610 semapv:UnspecifiedMatching +GARD:12354 Distal renal tubular acidosis with anemia skos:narrowMatch OMIM:611590 semapv:UnspecifiedMatching +GARD:12356 Loeys-dietz syndrome 5 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:12356 Loeys-dietz syndrome 5 skos:exactMatch OMIM:615582 semapv:UnspecifiedMatching +GARD:12357 STING-associated vasculopathy with onset in infancy skos:exactMatch Orphanet:425120 semapv:UnspecifiedMatching +GARD:12357 STING-associated vasculopathy with onset in infancy skos:narrowMatch OMIM:615934 semapv:UnspecifiedMatching +GARD:12360 Microcytic anemia with liver iron overload skos:exactMatch Orphanet:83642 semapv:UnspecifiedMatching +GARD:12360 Microcytic anemia with liver iron overload skos:narrowMatch OMIM:206100 semapv:UnspecifiedMatching +GARD:12362 Familial hyperaldosteronism type III skos:exactMatch Orphanet:251274 semapv:UnspecifiedMatching +GARD:12362 Familial hyperaldosteronism type III skos:narrowMatch OMIM:613677 semapv:UnspecifiedMatching +GARD:12365 Spinocerebellar ataxia type 19/22 skos:exactMatch Orphanet:98772 semapv:UnspecifiedMatching +GARD:12365 Spinocerebellar ataxia type 19/22 skos:narrowMatch OMIM:607346 semapv:UnspecifiedMatching +GARD:12366 Spinocerebellar ataxia type 35 skos:exactMatch Orphanet:276193 semapv:UnspecifiedMatching +GARD:12366 Spinocerebellar ataxia type 35 skos:narrowMatch OMIM:613908 semapv:UnspecifiedMatching +GARD:12367 Spinocerebellar ataxia type 36 skos:exactMatch Orphanet:276198 semapv:UnspecifiedMatching +GARD:12367 Spinocerebellar ataxia type 36 skos:narrowMatch OMIM:614153 semapv:UnspecifiedMatching +GARD:12368 Spinocerebellar ataxia type 37 skos:exactMatch Orphanet:363710 semapv:UnspecifiedMatching +GARD:12368 Spinocerebellar ataxia type 37 skos:narrowMatch OMIM:615945 semapv:UnspecifiedMatching +GARD:12369 Spinocerebellar ataxia type 38 skos:exactMatch Orphanet:423296 semapv:UnspecifiedMatching +GARD:12369 Spinocerebellar ataxia type 38 skos:narrowMatch OMIM:615957 semapv:UnspecifiedMatching +GARD:1237 Char syndrome skos:exactMatch Orphanet:46627 semapv:UnspecifiedMatching +GARD:1237 Char syndrome skos:narrowMatch OMIM:169100 semapv:UnspecifiedMatching +GARD:12371 Spinocerebellar ataxia type 40 skos:exactMatch Orphanet:423275 semapv:UnspecifiedMatching +GARD:12371 Spinocerebellar ataxia type 40 skos:narrowMatch OMIM:616053 semapv:UnspecifiedMatching +GARD:12372 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome skos:exactMatch Orphanet:314404 semapv:UnspecifiedMatching +GARD:12372 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome skos:narrowMatch OMIM:604121 semapv:UnspecifiedMatching +GARD:12375 Idiopathic CD4 lymphocytopenia skos:exactMatch Orphanet:228000 semapv:UnspecifiedMatching +GARD:12375 Idiopathic CD4 lymphocytopenia skos:narrowMatch OMIM:615518 semapv:UnspecifiedMatching +GARD:12382 Sudden infant death-dysgenesis of the testes syndrome skos:exactMatch Orphanet:168593 semapv:UnspecifiedMatching +GARD:12382 Sudden infant death-dysgenesis of the testes syndrome skos:narrowMatch OMIM:608800 semapv:UnspecifiedMatching +GARD:12383 Vasculitis due to ADA2 deficiency skos:exactMatch Orphanet:404553 semapv:UnspecifiedMatching +GARD:12383 Vasculitis due to ADA2 deficiency skos:narrowMatch OMIM:615688 semapv:UnspecifiedMatching +GARD:12384 Hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch Orphanet:324561 semapv:UnspecifiedMatching +GARD:12384 Hypopigmentation-punctate palmoplantar keratoderma syndrome skos:narrowMatch OMIM:615522 semapv:UnspecifiedMatching +GARD:12385 Male infertility due to large-headed multiflagellar polyploid spermatozoa skos:exactMatch Orphanet:137893 semapv:UnspecifiedMatching +GARD:12385 Male infertility due to large-headed multiflagellar polyploid spermatozoa skos:narrowMatch OMIM:243060 semapv:UnspecifiedMatching +GARD:12388 Proximal 16p11.2 microduplication syndrome skos:exactMatch Orphanet:370079 semapv:UnspecifiedMatching +GARD:12388 Proximal 16p11.2 microduplication syndrome skos:narrowMatch OMIM:614671 semapv:UnspecifiedMatching +GARD:12390 Schnitzler syndrome skos:exactMatch Orphanet:37748 semapv:UnspecifiedMatching +GARD:12391 Developmental and epileptic encephalopathy 26 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:12391 Developmental and epileptic encephalopathy 26 skos:exactMatch OMIM:616056 semapv:UnspecifiedMatching +GARD:12393 DK1-CDG skos:exactMatch Orphanet:91131 semapv:UnspecifiedMatching +GARD:12393 DK1-CDG skos:narrowMatch OMIM:610768 semapv:UnspecifiedMatching +GARD:12394 RFT1-CDG skos:exactMatch Orphanet:244310 semapv:UnspecifiedMatching +GARD:12394 RFT1-CDG skos:narrowMatch OMIM:612015 semapv:UnspecifiedMatching +GARD:12395 DPM3-CDG skos:exactMatch Orphanet:263494 semapv:UnspecifiedMatching +GARD:12395 DPM3-CDG skos:narrowMatch OMIM:612937 semapv:UnspecifiedMatching +GARD:12396 ALG11-CDG skos:exactMatch Orphanet:280071 semapv:UnspecifiedMatching +GARD:12396 ALG11-CDG skos:narrowMatch OMIM:613661 semapv:UnspecifiedMatching +GARD:12397 SRD5A3-CDG skos:exactMatch Orphanet:324737 semapv:UnspecifiedMatching +GARD:12397 SRD5A3-CDG skos:narrowMatch OMIM:612379 semapv:UnspecifiedMatching +GARD:12398 DDOST-CDG skos:exactMatch Orphanet:300536 semapv:UnspecifiedMatching +GARD:12398 DDOST-CDG skos:narrowMatch OMIM:614507 semapv:UnspecifiedMatching +GARD:1240 X-linked Charcot-Marie-Tooth disease type 4 skos:exactMatch Orphanet:101078 semapv:UnspecifiedMatching +GARD:1240 X-linked Charcot-Marie-Tooth disease type 4 skos:narrowMatch OMIM:310490 semapv:UnspecifiedMatching +GARD:12401 ALG13-CDG skos:exactMatch Orphanet:324422 semapv:UnspecifiedMatching +GARD:12401 ALG13-CDG skos:narrowMatch OMIM:300884 semapv:UnspecifiedMatching +GARD:12403 SLC35A2-CDG skos:exactMatch Orphanet:356961 semapv:UnspecifiedMatching +GARD:12403 SLC35A2-CDG skos:narrowMatch OMIM:300896 semapv:UnspecifiedMatching +GARD:12404 Alacrima, achalasia, and mental retardation syndrome skos:broadMatch Orphanet:869 semapv:UnspecifiedMatching +GARD:12404 Alacrima, achalasia, and mental retardation syndrome skos:exactMatch OMIM:615510 semapv:UnspecifiedMatching +GARD:12405 SSR4-CDG skos:exactMatch Orphanet:370927 semapv:UnspecifiedMatching +GARD:12405 SSR4-CDG skos:narrowMatch OMIM:300934 semapv:UnspecifiedMatching +GARD:12409 SLC35A1-CDG skos:exactMatch Orphanet:238459 semapv:UnspecifiedMatching +GARD:12409 SLC35A1-CDG skos:narrowMatch OMIM:603585 semapv:UnspecifiedMatching +GARD:12411 COG8-CDG skos:exactMatch Orphanet:95428 semapv:UnspecifiedMatching +GARD:12411 COG8-CDG skos:narrowMatch OMIM:611182 semapv:UnspecifiedMatching +GARD:12412 COG4-CDG skos:exactMatch Orphanet:263501 semapv:UnspecifiedMatching +GARD:12412 COG4-CDG skos:narrowMatch OMIM:613489 semapv:UnspecifiedMatching +GARD:12413 TMEM165-CDG skos:exactMatch Orphanet:314667 semapv:UnspecifiedMatching +GARD:12413 TMEM165-CDG skos:narrowMatch OMIM:614727 semapv:UnspecifiedMatching +GARD:12416 Congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch Orphanet:329178 semapv:UnspecifiedMatching +GARD:12416 Congenital muscular dystrophy with intellectual disability and severe epilepsy skos:narrowMatch OMIM:615042 semapv:UnspecifiedMatching +GARD:12417 MAN1B1-CDG skos:exactMatch Orphanet:397941 semapv:UnspecifiedMatching +GARD:12421 Partial duplication of the short arm of chromosome X skos:exactMatch Orphanet:263775 semapv:UnspecifiedMatching +GARD:12426 Congenital intrauterine infection-like syndrome skos:exactMatch Orphanet:1229 semapv:UnspecifiedMatching +GARD:12426 Congenital intrauterine infection-like syndrome skos:narrowMatch OMIM:251290 semapv:UnspecifiedMatching +GARD:12428 Cutaneous collagenous vasculopathy skos:exactMatch Orphanet:280779 semapv:UnspecifiedMatching +GARD:12429 Autosomal dominant Charcot-Marie-Tooth disease type 2N skos:exactMatch Orphanet:228174 semapv:UnspecifiedMatching +GARD:12429 Autosomal dominant Charcot-Marie-Tooth disease type 2N skos:narrowMatch OMIM:613287 semapv:UnspecifiedMatching +GARD:1243 X-linked Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:101076 semapv:UnspecifiedMatching +GARD:1243 X-linked Charcot-Marie-Tooth disease type 2 skos:narrowMatch OMIM:302801 semapv:UnspecifiedMatching +GARD:12431 Autosomal dominant Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:64746 semapv:UnspecifiedMatching +GARD:12432 Autosomal dominant Charcot-Marie-Tooth disease type 2L skos:exactMatch Orphanet:99945 semapv:UnspecifiedMatching +GARD:12432 Autosomal dominant Charcot-Marie-Tooth disease type 2L skos:narrowMatch OMIM:608673 semapv:UnspecifiedMatching +GARD:12433 Charcot-Marie-Tooth disease type 1 skos:exactMatch Orphanet:65753 semapv:UnspecifiedMatching +GARD:12434 Autosomal dominant Charcot-Marie-Tooth disease type 2O skos:exactMatch Orphanet:284232 semapv:UnspecifiedMatching +GARD:12434 Autosomal dominant Charcot-Marie-Tooth disease type 2O skos:narrowMatch OMIM:614228 semapv:UnspecifiedMatching +GARD:12435 Charcot-Marie-Tooth disease type 2P skos:exactMatch Orphanet:300319 semapv:UnspecifiedMatching +GARD:12435 Charcot-Marie-Tooth disease type 2P skos:narrowMatch OMIM:614436 semapv:UnspecifiedMatching +GARD:12436 Autosomal dominant intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:90114 semapv:UnspecifiedMatching +GARD:12437 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A skos:exactMatch Orphanet:100043 semapv:UnspecifiedMatching +GARD:12437 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A skos:narrowMatch OMIM:606483 semapv:UnspecifiedMatching +GARD:12438 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B skos:exactMatch Orphanet:100044 semapv:UnspecifiedMatching +GARD:12438 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B skos:narrowMatch OMIM:606482 semapv:UnspecifiedMatching +GARD:12439 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C skos:exactMatch Orphanet:100045 semapv:UnspecifiedMatching +GARD:12439 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C skos:narrowMatch OMIM:608323 semapv:UnspecifiedMatching +GARD:1244 X-linked Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:101077 semapv:UnspecifiedMatching +GARD:1244 X-linked Charcot-Marie-Tooth disease type 3 skos:narrowMatch OMIM:302802 semapv:UnspecifiedMatching +GARD:12440 Charcot-Marie-Tooth disease type 4 skos:exactMatch Orphanet:64749 semapv:UnspecifiedMatching +GARD:12441 Charcot-Marie-Tooth disease type 4F skos:exactMatch Orphanet:99952 semapv:UnspecifiedMatching +GARD:12441 Charcot-Marie-Tooth disease type 4F skos:narrowMatch OMIM:614895 semapv:UnspecifiedMatching +GARD:12442 Charcot-Marie-Tooth disease type 4H skos:exactMatch Orphanet:99954 semapv:UnspecifiedMatching +GARD:12442 Charcot-Marie-Tooth disease type 4H skos:narrowMatch OMIM:609311 semapv:UnspecifiedMatching +GARD:12443 Charcot-Marie-Tooth disease type 4J skos:exactMatch Orphanet:139515 semapv:UnspecifiedMatching +GARD:12443 Charcot-Marie-Tooth disease type 4J skos:narrowMatch OMIM:611228 semapv:UnspecifiedMatching +GARD:12444 X-linked Charcot-Marie-Tooth disease skos:exactMatch Orphanet:64747 semapv:UnspecifiedMatching +GARD:12445 X-linked Charcot-Marie-Tooth disease type 6 skos:exactMatch Orphanet:352675 semapv:UnspecifiedMatching +GARD:12445 X-linked Charcot-Marie-Tooth disease type 6 skos:narrowMatch OMIM:300905 semapv:UnspecifiedMatching +GARD:12446 Autosomal dominant Charcot-Marie-Tooth disease type 2Q skos:exactMatch Orphanet:329258 semapv:UnspecifiedMatching +GARD:12446 Autosomal dominant Charcot-Marie-Tooth disease type 2Q skos:narrowMatch OMIM:615025 semapv:UnspecifiedMatching +GARD:12447 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons skos:exactMatch Orphanet:401964 semapv:UnspecifiedMatching +GARD:12447 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons skos:narrowMatch OMIM:610100 semapv:UnspecifiedMatching +GARD:12448 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:exactMatch Orphanet:101097 semapv:UnspecifiedMatching +GARD:12448 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:narrowMatch OMIM:607706 semapv:UnspecifiedMatching +GARD:12448 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:narrowMatch OMIM:607831 semapv:UnspecifiedMatching +GARD:12449 Autosomal recessive axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:91024 semapv:UnspecifiedMatching +GARD:1245 Charcot-Marie-Tooth disease type 1A skos:exactMatch Orphanet:101081 semapv:UnspecifiedMatching +GARD:1245 Charcot-Marie-Tooth disease type 1A skos:narrowMatch OMIM:118220 semapv:UnspecifiedMatching +GARD:12451 Charcot-Marie-Tooth disease type 2R skos:exactMatch Orphanet:397968 semapv:UnspecifiedMatching +GARD:12451 Charcot-Marie-Tooth disease type 2R skos:narrowMatch OMIM:615490 semapv:UnspecifiedMatching +GARD:12452 Autosomal recessive intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:268337 semapv:UnspecifiedMatching +GARD:12453 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A skos:exactMatch Orphanet:217055 semapv:UnspecifiedMatching +GARD:12453 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A skos:narrowMatch OMIM:608340 semapv:UnspecifiedMatching +GARD:12454 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B skos:exactMatch Orphanet:254334 semapv:UnspecifiedMatching +GARD:12454 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B skos:narrowMatch OMIM:613641 semapv:UnspecifiedMatching +GARD:12458 Sickle cell-hemoglobin D disease syndrome skos:exactMatch Orphanet:251370 semapv:UnspecifiedMatching +GARD:12459 Sickle cell disease associated with another hemoglobin anomaly skos:exactMatch Orphanet:251355 semapv:UnspecifiedMatching +GARD:1246 Charcot-Marie-Tooth disease type 1B skos:exactMatch Orphanet:101082 semapv:UnspecifiedMatching +GARD:1246 Charcot-Marie-Tooth disease type 1B skos:narrowMatch OMIM:118200 semapv:UnspecifiedMatching +GARD:12469 Glutaric acidemia type 3 skos:exactMatch Orphanet:35706 semapv:UnspecifiedMatching +GARD:12469 Glutaric acidemia type 3 skos:narrowMatch OMIM:231690 semapv:UnspecifiedMatching +GARD:1247 Charcot-Marie-Tooth disease type 1C skos:exactMatch Orphanet:101083 semapv:UnspecifiedMatching +GARD:1247 Charcot-Marie-Tooth disease type 1C skos:narrowMatch OMIM:601098 semapv:UnspecifiedMatching +GARD:12470 Peroxisomal beta-oxidation disorder skos:exactMatch Orphanet:79188 semapv:UnspecifiedMatching +GARD:12471 Leukoencephalopathy-dystonia-motor neuropathy syndrome skos:exactMatch Orphanet:163684 semapv:UnspecifiedMatching +GARD:12471 Leukoencephalopathy-dystonia-motor neuropathy syndrome skos:narrowMatch OMIM:613724 semapv:UnspecifiedMatching +GARD:12472 CADDS skos:exactMatch Orphanet:369942 semapv:UnspecifiedMatching +GARD:12472 CADDS skos:narrowMatch OMIM:300475 semapv:UnspecifiedMatching +GARD:12474 Periodontal Ehlers-Danlos syndrome skos:exactMatch Orphanet:75392 semapv:UnspecifiedMatching +GARD:12474 Periodontal Ehlers-Danlos syndrome skos:narrowMatch OMIM:130080 semapv:UnspecifiedMatching +GARD:12474 Periodontal Ehlers-Danlos syndrome skos:narrowMatch OMIM:617174 semapv:UnspecifiedMatching +GARD:12476 Disorder of peroxisomal alpha-, beta- and omega-oxidation skos:exactMatch Orphanet:309810 semapv:UnspecifiedMatching +GARD:12478 Bleeding disorder due to P2Y12 defect skos:exactMatch Orphanet:36355 semapv:UnspecifiedMatching +GARD:12478 Bleeding disorder due to P2Y12 defect skos:narrowMatch OMIM:609821 semapv:UnspecifiedMatching +GARD:1248 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 skos:exactMatch Orphanet:99946 semapv:UnspecifiedMatching +GARD:1248 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 skos:narrowMatch OMIM:118210 semapv:UnspecifiedMatching +GARD:12480 Tetrasomy 21 skos:exactMatch Orphanet:96055 semapv:UnspecifiedMatching +GARD:12483 Cor triatriatum dexter skos:exactMatch Orphanet:99098 semapv:UnspecifiedMatching +GARD:12484 Cor triatriatum sinister skos:exactMatch Orphanet:99099 semapv:UnspecifiedMatching +GARD:12486 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch Orphanet:52055 semapv:UnspecifiedMatching +GARD:12486 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:narrowMatch OMIM:300472 semapv:UnspecifiedMatching +GARD:12487 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:exactMatch Orphanet:1495 semapv:UnspecifiedMatching +GARD:1249 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch Orphanet:101101 semapv:UnspecifiedMatching +GARD:1249 Charcot-Marie-Tooth disease type 2B2 skos:narrowMatch OMIM:605589 semapv:UnspecifiedMatching +GARD:12491 X-linked lissencephaly with abnormal genitalia skos:exactMatch Orphanet:452 semapv:UnspecifiedMatching +GARD:12491 X-linked lissencephaly with abnormal genitalia skos:narrowMatch OMIM:300215 semapv:UnspecifiedMatching +GARD:12492 20p12.3 microdeletion syndrome skos:exactMatch Orphanet:261295 semapv:UnspecifiedMatching +GARD:12494 Aromatase excess syndrome skos:exactMatch Orphanet:178345 semapv:UnspecifiedMatching +GARD:12494 Aromatase excess syndrome skos:narrowMatch OMIM:139300 semapv:UnspecifiedMatching +GARD:125 Acrokeratoelastoidosis of Costa skos:exactMatch Orphanet:38 semapv:UnspecifiedMatching +GARD:125 Acrokeratoelastoidosis of Costa skos:narrowMatch OMIM:101850 semapv:UnspecifiedMatching +GARD:1250 Autosomal dominant Charcot-Marie-Tooth disease type 2C skos:exactMatch Orphanet:99937 semapv:UnspecifiedMatching +GARD:1250 Autosomal dominant Charcot-Marie-Tooth disease type 2C skos:narrowMatch OMIM:606071 semapv:UnspecifiedMatching +GARD:12501 Intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch Orphanet:391372 semapv:UnspecifiedMatching +GARD:12501 Intellectual disability-severe speech delay-mild dysmorphism syndrome skos:narrowMatch OMIM:613670 semapv:UnspecifiedMatching +GARD:12502 Male infertility due to globozoospermia skos:exactMatch Orphanet:171709 semapv:UnspecifiedMatching +GARD:12502 Male infertility due to globozoospermia skos:narrowMatch OMIM:102530 semapv:UnspecifiedMatching +GARD:12502 Male infertility due to globozoospermia skos:narrowMatch OMIM:613958 semapv:UnspecifiedMatching +GARD:12503 Atypical Gaucher disease due to saposin C deficiency skos:exactMatch Orphanet:309252 semapv:UnspecifiedMatching +GARD:12503 Atypical Gaucher disease due to saposin C deficiency skos:narrowMatch OMIM:610539 semapv:UnspecifiedMatching +GARD:12504 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch Orphanet:2072 semapv:UnspecifiedMatching +GARD:12504 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:narrowMatch OMIM:231005 semapv:UnspecifiedMatching +GARD:12505 Encephalopathy due to prosaposin deficiency skos:exactMatch Orphanet:139406 semapv:UnspecifiedMatching +GARD:12505 Encephalopathy due to prosaposin deficiency skos:narrowMatch OMIM:611721 semapv:UnspecifiedMatching +GARD:1251 Autosomal dominant Charcot-Marie-Tooth disease type 2D skos:exactMatch Orphanet:99938 semapv:UnspecifiedMatching +GARD:1251 Autosomal dominant Charcot-Marie-Tooth disease type 2D skos:narrowMatch OMIM:601472 semapv:UnspecifiedMatching +GARD:12510 Gangliosidosis skos:exactMatch Orphanet:309144 semapv:UnspecifiedMatching +GARD:12511 Lipid storage disease skos:exactMatch Orphanet:79204 semapv:UnspecifiedMatching +GARD:12513 Male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 semapv:UnspecifiedMatching +GARD:1252 Charcot-Marie-Tooth disease type 4A skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching +GARD:1252 Charcot-Marie-Tooth disease type 4A skos:narrowMatch OMIM:214400 semapv:UnspecifiedMatching +GARD:12521 IgG4-related disease skos:exactMatch Orphanet:284264 semapv:UnspecifiedMatching +GARD:12524 L1 syndrome skos:exactMatch Orphanet:275543 semapv:UnspecifiedMatching +GARD:12524 L1 syndrome skos:narrowMatch OMIM:303350 semapv:UnspecifiedMatching +GARD:12524 L1 syndrome skos:narrowMatch OMIM:304100 semapv:UnspecifiedMatching +GARD:12524 L1 syndrome skos:narrowMatch OMIM:307000 semapv:UnspecifiedMatching +GARD:12525 X-linked complicated spastic paraplegia type 1 skos:exactMatch Orphanet:306617 semapv:UnspecifiedMatching +GARD:12526 X-linked complicated corpus callosum dysgenesis skos:exactMatch Orphanet:1497 semapv:UnspecifiedMatching +GARD:12526 X-linked complicated corpus callosum dysgenesis skos:narrowMatch OMIM:304100 semapv:UnspecifiedMatching +GARD:12528 DNAJB6-related limb-girdle muscular dystrophy D1 skos:exactMatch Orphanet:34516 semapv:UnspecifiedMatching +GARD:12528 DNAJB6-related limb-girdle muscular dystrophy D1 skos:narrowMatch OMIM:603511 semapv:UnspecifiedMatching +GARD:1253 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch Orphanet:99955 semapv:UnspecifiedMatching +GARD:1253 Charcot-Marie-Tooth disease type 4B1 skos:narrowMatch OMIM:601382 semapv:UnspecifiedMatching +GARD:12530 TNP03-related limb-girdle muscular dystrophy D2 skos:exactMatch Orphanet:55595 semapv:UnspecifiedMatching +GARD:12530 TNP03-related limb-girdle muscular dystrophy D2 skos:narrowMatch OMIM:608423 semapv:UnspecifiedMatching +GARD:12531 HNRNPDL-related limb-girdle muscular dystrophy D3 skos:exactMatch Orphanet:55596 semapv:UnspecifiedMatching +GARD:12531 HNRNPDL-related limb-girdle muscular dystrophy D3 skos:narrowMatch OMIM:609115 semapv:UnspecifiedMatching +GARD:12532 Autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch Orphanet:238755 semapv:UnspecifiedMatching +GARD:12532 Autosomal dominant limb-girdle muscular dystrophy type 1H skos:narrowMatch OMIM:613530 semapv:UnspecifiedMatching +GARD:12533 FKRP-related limb-girdle muscular dystrophy R9 skos:exactMatch Orphanet:34515 semapv:UnspecifiedMatching +GARD:12533 FKRP-related limb-girdle muscular dystrophy R9 skos:narrowMatch OMIM:607155 semapv:UnspecifiedMatching +GARD:12534 Titin-related limb-girdle muscular dystrophy R10 skos:exactMatch Orphanet:140922 semapv:UnspecifiedMatching +GARD:12534 Titin-related limb-girdle muscular dystrophy R10 skos:narrowMatch OMIM:608807 semapv:UnspecifiedMatching +GARD:12535 POMT1-related limb-girdle muscular dystrophy R11 skos:exactMatch Orphanet:86812 semapv:UnspecifiedMatching +GARD:12535 POMT1-related limb-girdle muscular dystrophy R11 skos:narrowMatch OMIM:609308 semapv:UnspecifiedMatching +GARD:12536 Anoctamin-5-related limb-girdle muscular dystrophy R12 skos:exactMatch Orphanet:206549 semapv:UnspecifiedMatching +GARD:12536 Anoctamin-5-related limb-girdle muscular dystrophy R12 skos:narrowMatch OMIM:611307 semapv:UnspecifiedMatching +GARD:12538 Fukutin-related limb-girdle muscular dystrophy R13 skos:exactMatch Orphanet:206554 semapv:UnspecifiedMatching +GARD:12538 Fukutin-related limb-girdle muscular dystrophy R13 skos:narrowMatch OMIM:611588 semapv:UnspecifiedMatching +GARD:12539 POMT2-related limb-girdle muscular dystrophy R14 skos:exactMatch Orphanet:206559 semapv:UnspecifiedMatching +GARD:12539 POMT2-related limb-girdle muscular dystrophy R14 skos:narrowMatch OMIM:613158 semapv:UnspecifiedMatching +GARD:12540 POMGNT1-related limb-girdle muscular dystrophy R15 skos:exactMatch Orphanet:206564 semapv:UnspecifiedMatching +GARD:12540 POMGNT1-related limb-girdle muscular dystrophy R15 skos:narrowMatch OMIM:613157 semapv:UnspecifiedMatching +GARD:12541 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 skos:exactMatch Orphanet:280333 semapv:UnspecifiedMatching +GARD:12541 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 skos:narrowMatch OMIM:613818 semapv:UnspecifiedMatching +GARD:12542 Plectin-related limb-girdle muscular dystrophy R17 skos:exactMatch Orphanet:254361 semapv:UnspecifiedMatching +GARD:12542 Plectin-related limb-girdle muscular dystrophy R17 skos:narrowMatch OMIM:613723 semapv:UnspecifiedMatching +GARD:12543 TRAPPC11-related limb-girdle muscular dystrophy R18 skos:exactMatch Orphanet:369840 semapv:UnspecifiedMatching +GARD:12543 TRAPPC11-related limb-girdle muscular dystrophy R18 skos:narrowMatch OMIM:615356 semapv:UnspecifiedMatching +GARD:12544 GMPPB-related limb-girdle muscular dystrophy R19 skos:exactMatch Orphanet:363623 semapv:UnspecifiedMatching +GARD:12544 GMPPB-related limb-girdle muscular dystrophy R19 skos:narrowMatch OMIM:615352 semapv:UnspecifiedMatching +GARD:12547 Selective IgM deficiency skos:exactMatch Orphanet:331235 semapv:UnspecifiedMatching +GARD:12550 Isolated congenital adermatoglyphia skos:exactMatch Orphanet:289465 semapv:UnspecifiedMatching +GARD:12550 Isolated congenital adermatoglyphia skos:narrowMatch OMIM:136000 semapv:UnspecifiedMatching +GARD:12551 Familial congenital mirror movements skos:exactMatch Orphanet:238722 semapv:UnspecifiedMatching +GARD:12551 Familial congenital mirror movements skos:narrowMatch OMIM:157600 semapv:UnspecifiedMatching +GARD:12551 Familial congenital mirror movements skos:narrowMatch OMIM:614508 semapv:UnspecifiedMatching +GARD:12551 Familial congenital mirror movements skos:narrowMatch OMIM:616059 semapv:UnspecifiedMatching +GARD:12551 Familial congenital mirror movements skos:narrowMatch OMIM:618264 semapv:UnspecifiedMatching +GARD:12556 Non-acquired isolated growth hormone deficiency skos:exactMatch Orphanet:631 semapv:UnspecifiedMatching +GARD:12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:173100 semapv:UnspecifiedMatching +GARD:12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:262400 semapv:UnspecifiedMatching +GARD:12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:262650 semapv:UnspecifiedMatching +GARD:12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:300123 semapv:UnspecifiedMatching +GARD:12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:307200 semapv:UnspecifiedMatching +GARD:12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:612781 semapv:UnspecifiedMatching +GARD:12558 Intellectual developmental disorder, autosomal dominant 5 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:12558 Intellectual developmental disorder, autosomal dominant 5 skos:exactMatch OMIM:612621 semapv:UnspecifiedMatching +GARD:12559 Hurler syndrome skos:exactMatch Orphanet:93473 semapv:UnspecifiedMatching +GARD:12559 Hurler syndrome skos:narrowMatch OMIM:607014 semapv:UnspecifiedMatching +GARD:12560 Hurler-Scheie syndrome skos:exactMatch Orphanet:93476 semapv:UnspecifiedMatching +GARD:12560 Hurler-Scheie syndrome skos:narrowMatch OMIM:607015 semapv:UnspecifiedMatching +GARD:12561 Scheie syndrome skos:exactMatch Orphanet:93474 semapv:UnspecifiedMatching +GARD:12561 Scheie syndrome skos:narrowMatch OMIM:607016 semapv:UnspecifiedMatching +GARD:12562 Mucopolysaccharidosis type 4 skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching +GARD:12562 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:252300 semapv:UnspecifiedMatching +GARD:12562 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:253000 semapv:UnspecifiedMatching +GARD:12562 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:253010 semapv:UnspecifiedMatching +GARD:12567 PLA2G6-associated neurodegeneration skos:exactMatch Orphanet:329303 semapv:UnspecifiedMatching +GARD:12568 Adult-onset dystonia-parkinsonism skos:exactMatch Orphanet:199351 semapv:UnspecifiedMatching +GARD:12568 Adult-onset dystonia-parkinsonism skos:narrowMatch OMIM:612953 semapv:UnspecifiedMatching +GARD:12569 Mitochondrial membrane protein-associated neurodegeneration skos:exactMatch Orphanet:289560 semapv:UnspecifiedMatching +GARD:12569 Mitochondrial membrane protein-associated neurodegeneration skos:narrowMatch OMIM:614298 semapv:UnspecifiedMatching +GARD:12570 Beta-propeller protein-associated neurodegeneration skos:exactMatch Orphanet:329284 semapv:UnspecifiedMatching +GARD:12570 Beta-propeller protein-associated neurodegeneration skos:narrowMatch OMIM:300894 semapv:UnspecifiedMatching +GARD:12571 COASY protein-associated neurodegeneration skos:exactMatch Orphanet:397725 semapv:UnspecifiedMatching +GARD:12571 COASY protein-associated neurodegeneration skos:narrowMatch OMIM:615643 semapv:UnspecifiedMatching +GARD:1258 X-linked Charcot-Marie-Tooth disease type 1 skos:exactMatch Orphanet:101075 semapv:UnspecifiedMatching +GARD:1258 X-linked Charcot-Marie-Tooth disease type 1 skos:narrowMatch OMIM:302800 semapv:UnspecifiedMatching +GARD:12584 Congenital muscular dystrophy due to dystroglycanopathy skos:exactMatch Orphanet:370953 semapv:UnspecifiedMatching +GARD:12585 Congenital muscular dystrophy due to LMNA mutation skos:exactMatch Orphanet:157973 semapv:UnspecifiedMatching +GARD:12585 Congenital muscular dystrophy due to LMNA mutation skos:narrowMatch OMIM:613205 semapv:UnspecifiedMatching +GARD:12586 Congenital muscular dystrophy type 1B skos:exactMatch Orphanet:98893 semapv:UnspecifiedMatching +GARD:12586 Congenital muscular dystrophy type 1B skos:narrowMatch OMIM:604801 semapv:UnspecifiedMatching +GARD:12587 Congenital muscular dystrophy with integrin alpha-7 deficiency skos:exactMatch Orphanet:34520 semapv:UnspecifiedMatching +GARD:12587 Congenital muscular dystrophy with integrin alpha-7 deficiency skos:narrowMatch OMIM:613204 semapv:UnspecifiedMatching +GARD:12588 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies skos:exactMatch Orphanet:352687 semapv:UnspecifiedMatching +GARD:12590 Congenital fibrosis of extraocular muscles skos:exactMatch Orphanet:45358 semapv:UnspecifiedMatching +GARD:12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:135700 semapv:UnspecifiedMatching +GARD:12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:600638 semapv:UnspecifiedMatching +GARD:12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:602078 semapv:UnspecifiedMatching +GARD:12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609384 semapv:UnspecifiedMatching +GARD:12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609428 semapv:UnspecifiedMatching +GARD:12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609612 semapv:UnspecifiedMatching +GARD:12591 Hereditary myopathy with early respiratory failure skos:exactMatch Orphanet:178464 semapv:UnspecifiedMatching +GARD:12591 Hereditary myopathy with early respiratory failure skos:narrowMatch OMIM:603689 semapv:UnspecifiedMatching +GARD:12592 Oculopharyngodistal myopathy skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching +GARD:12592 Oculopharyngodistal myopathy skos:narrowMatch OMIM:164310 semapv:UnspecifiedMatching +GARD:12592 Oculopharyngodistal myopathy skos:narrowMatch OMIM:618940 semapv:UnspecifiedMatching +GARD:12596 Primary lipodystrophy skos:exactMatch Orphanet:90970 semapv:UnspecifiedMatching +GARD:12597 Genetic lipodystrophy skos:exactMatch Orphanet:98305 semapv:UnspecifiedMatching +GARD:12598 Familial partial lipodystrophy, Köbberling type skos:exactMatch Orphanet:79084 semapv:UnspecifiedMatching +GARD:12598 Familial partial lipodystrophy, Köbberling type skos:narrowMatch OMIM:608600 semapv:UnspecifiedMatching +GARD:12599 AKT2-related familial partial lipodystrophy skos:exactMatch Orphanet:79085 semapv:UnspecifiedMatching +GARD:12600 PPARG-related familial partial lipodystrophy skos:exactMatch Orphanet:79083 semapv:UnspecifiedMatching +GARD:12600 PPARG-related familial partial lipodystrophy skos:narrowMatch OMIM:604367 semapv:UnspecifiedMatching +GARD:12601 PLIN1-related familial partial lipodystrophy skos:exactMatch Orphanet:280356 semapv:UnspecifiedMatching +GARD:12601 PLIN1-related familial partial lipodystrophy skos:narrowMatch OMIM:613877 semapv:UnspecifiedMatching +GARD:12602 Acquired lipodystrophy skos:exactMatch Orphanet:98307 semapv:UnspecifiedMatching +GARD:12603 Acquired generalized lipodystrophy skos:exactMatch Orphanet:79086 semapv:UnspecifiedMatching +GARD:12604 Lipodystrophy due to peptidic growth factors deficiency skos:exactMatch Orphanet:1979 semapv:UnspecifiedMatching +GARD:12604 Lipodystrophy due to peptidic growth factors deficiency skos:narrowMatch OMIM:233805 semapv:UnspecifiedMatching +GARD:1261 Charlie M syndrome skos:exactMatch Orphanet:1406 semapv:UnspecifiedMatching +GARD:12610 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:157965 semapv:UnspecifiedMatching +GARD:12610 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome skos:narrowMatch OMIM:612350 semapv:UnspecifiedMatching +GARD:12613 Cardiac-valvular Ehlers-Danlos syndrome skos:exactMatch Orphanet:230851 semapv:UnspecifiedMatching +GARD:12613 Cardiac-valvular Ehlers-Danlos syndrome skos:narrowMatch OMIM:225320 semapv:UnspecifiedMatching +GARD:12621 Methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch Orphanet:369955 semapv:UnspecifiedMatching +GARD:12621 Methylmalonic acidemia with homocystinuria, type cblJ skos:narrowMatch OMIM:614857 semapv:UnspecifiedMatching +GARD:12623 Vitamin B12-responsive methylmalonic acidemia skos:exactMatch Orphanet:28 semapv:UnspecifiedMatching +GARD:12623 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:251100 semapv:UnspecifiedMatching +GARD:12623 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:251110 semapv:UnspecifiedMatching +GARD:12623 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +GARD:12631 Stapes ankylosis with broad thumbs and toes skos:exactMatch Orphanet:140917 semapv:UnspecifiedMatching +GARD:12631 Stapes ankylosis with broad thumbs and toes skos:narrowMatch OMIM:184460 semapv:UnspecifiedMatching +GARD:12632 Multiple mitochondrial dysfunctions syndrome skos:exactMatch Orphanet:289573 semapv:UnspecifiedMatching +GARD:12635 Laurence-Moon syndrome skos:exactMatch Orphanet:2377 semapv:UnspecifiedMatching +GARD:12635 Laurence-Moon syndrome skos:narrowMatch OMIM:245800 semapv:UnspecifiedMatching +GARD:12638 Bacterial susceptibility due to TLR signaling pathway deficiency skos:exactMatch Orphanet:183713 semapv:UnspecifiedMatching +GARD:12638 Bacterial susceptibility due to TLR signaling pathway deficiency skos:narrowMatch OMIM:612260 semapv:UnspecifiedMatching +GARD:12640 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome skos:exactMatch Orphanet:306542 semapv:UnspecifiedMatching +GARD:12640 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome skos:narrowMatch OMIM:613456 semapv:UnspecifiedMatching +GARD:12641 Frontonasal dysplasia-alopecia-genital anomalies syndrome skos:exactMatch Orphanet:228390 semapv:UnspecifiedMatching +GARD:12641 Frontonasal dysplasia-alopecia-genital anomalies syndrome skos:narrowMatch OMIM:613451 semapv:UnspecifiedMatching +GARD:12642 Frontorhiny skos:exactMatch Orphanet:391474 semapv:UnspecifiedMatching +GARD:12642 Frontorhiny skos:narrowMatch OMIM:136760 semapv:UnspecifiedMatching +GARD:12643 Lethal congenital contracture syndrome skos:exactMatch Orphanet:294965 semapv:UnspecifiedMatching +GARD:12644 Lethal congenital contracture syndrome type 3 skos:exactMatch Orphanet:137783 semapv:UnspecifiedMatching +GARD:12644 Lethal congenital contracture syndrome type 3 skos:narrowMatch OMIM:611369 semapv:UnspecifiedMatching +GARD:12644 Lethal congenital contracture syndrome type 3 skos:narrowMatch OMIM:614915 semapv:UnspecifiedMatching +GARD:12645 Lethal congenital contracture syndrome 4 skos:broadMatch Orphanet:137783 semapv:UnspecifiedMatching +GARD:12645 Lethal congenital contracture syndrome 4 skos:exactMatch OMIM:614915 semapv:UnspecifiedMatching +GARD:12648 Isolated congenital megalocornea skos:exactMatch Orphanet:91489 semapv:UnspecifiedMatching +GARD:12648 Isolated congenital megalocornea skos:narrowMatch OMIM:309300 semapv:UnspecifiedMatching +GARD:12650 Amoebiasis due to free-living amoebae skos:exactMatch Orphanet:68 semapv:UnspecifiedMatching +GARD:12652 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch Orphanet:137898 semapv:UnspecifiedMatching +GARD:12652 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:narrowMatch OMIM:611105 semapv:UnspecifiedMatching +GARD:12653 DOCK2 deficiency skos:exactMatch Orphanet:447737 semapv:UnspecifiedMatching +GARD:12653 DOCK2 deficiency skos:narrowMatch OMIM:616433 semapv:UnspecifiedMatching +GARD:12656 Castleman disease skos:exactMatch Orphanet:160 semapv:UnspecifiedMatching +GARD:12656 Castleman disease skos:narrowMatch OMIM:148000 semapv:UnspecifiedMatching +GARD:12662 Cerebrofacial arteriovenous metameric syndrome skos:exactMatch Orphanet:141189 semapv:UnspecifiedMatching +GARD:12663 Facial arteriovenous malformation skos:exactMatch Orphanet:156230 semapv:UnspecifiedMatching +GARD:12664 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch Orphanet:95699 semapv:UnspecifiedMatching +GARD:12664 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:narrowMatch OMIM:613571 semapv:UnspecifiedMatching +GARD:12665 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 semapv:UnspecifiedMatching +GARD:12665 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:narrowMatch OMIM:201910 semapv:UnspecifiedMatching +GARD:12669 X-linked intellectual disability, Najm type skos:exactMatch Orphanet:163937 semapv:UnspecifiedMatching +GARD:12669 X-linked intellectual disability, Najm type skos:narrowMatch OMIM:300749 semapv:UnspecifiedMatching +GARD:12673 Actinic lichen planus skos:exactMatch Orphanet:254395 semapv:UnspecifiedMatching +GARD:12674 Annular lichen planus skos:exactMatch Orphanet:254424 semapv:UnspecifiedMatching +GARD:12675 Atrophic lichen planus skos:exactMatch Orphanet:254449 semapv:UnspecifiedMatching +GARD:12676 Annular atrophic lichen planus skos:exactMatch Orphanet:254411 semapv:UnspecifiedMatching +GARD:12677 Lichen planus pemphigoides skos:exactMatch Orphanet:254478 semapv:UnspecifiedMatching +GARD:12678 Lipoic acid synthetase deficiency skos:exactMatch Orphanet:401859 semapv:UnspecifiedMatching +GARD:12678 Lipoic acid synthetase deficiency skos:narrowMatch OMIM:614462 semapv:UnspecifiedMatching +GARD:12679 Lipoic acid biosynthesis defect skos:exactMatch Orphanet:401854 semapv:UnspecifiedMatching +GARD:12680 Lipoyl transferase 1 deficiency skos:exactMatch Orphanet:401862 semapv:UnspecifiedMatching +GARD:12680 Lipoyl transferase 1 deficiency skos:narrowMatch OMIM:616299 semapv:UnspecifiedMatching +GARD:12681 Childhood-onset spasticity with hyperglycinemia skos:exactMatch Orphanet:401866 semapv:UnspecifiedMatching +GARD:12681 Childhood-onset spasticity with hyperglycinemia skos:narrowMatch OMIM:616859 semapv:UnspecifiedMatching +GARD:12682 Horizontal gaze palsy with progressive scoliosis skos:exactMatch Orphanet:2744 semapv:UnspecifiedMatching +GARD:12682 Horizontal gaze palsy with progressive scoliosis skos:narrowMatch OMIM:607313 semapv:UnspecifiedMatching +GARD:12682 Horizontal gaze palsy with progressive scoliosis skos:narrowMatch OMIM:617542 semapv:UnspecifiedMatching +GARD:12683 Distal hereditary motor neuropathy skos:exactMatch Orphanet:53739 semapv:UnspecifiedMatching +GARD:12684 Familial episodic pain syndrome skos:exactMatch Orphanet:391384 semapv:UnspecifiedMatching +GARD:12684 Familial episodic pain syndrome skos:narrowMatch OMIM:615040 semapv:UnspecifiedMatching +GARD:12684 Familial episodic pain syndrome skos:narrowMatch OMIM:615552 semapv:UnspecifiedMatching +GARD:12686 Diffuse cutaneous mastocytosis skos:exactMatch Orphanet:79456 semapv:UnspecifiedMatching +GARD:12687 Cutaneous mastocytoma skos:exactMatch Orphanet:79455 semapv:UnspecifiedMatching +GARD:12688 Hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140471 semapv:UnspecifiedMatching +GARD:12697 Tumor of cranial and spinal nerves skos:exactMatch Orphanet:252057 semapv:UnspecifiedMatching +GARD:12698 Perineurioma skos:exactMatch Orphanet:85102 semapv:UnspecifiedMatching +GARD:127 Summitt syndrome skos:exactMatch Orphanet:3210 semapv:UnspecifiedMatching +GARD:127 Summitt syndrome skos:narrowMatch OMIM:272350 semapv:UnspecifiedMatching +GARD:12703 Osteochondritis dissecans skos:exactMatch Orphanet:2764 semapv:UnspecifiedMatching +GARD:12704 Osteochondrosis skos:exactMatch Orphanet:399319 semapv:UnspecifiedMatching +GARD:12706 Painful legs and moving toes syndrome skos:exactMatch Orphanet:617440 semapv:UnspecifiedMatching +GARD:12713 Congenital laryngeal palsy skos:exactMatch Orphanet:137932 semapv:UnspecifiedMatching +GARD:12715 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:exactMatch Orphanet:457260 semapv:UnspecifiedMatching +GARD:12715 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:narrowMatch OMIM:300958 semapv:UnspecifiedMatching +GARD:12716 Elastoderma skos:exactMatch Orphanet:228240 semapv:UnspecifiedMatching +GARD:12718 Autosomal recessive centronuclear myopathy skos:exactMatch Orphanet:169186 semapv:UnspecifiedMatching +GARD:12718 Autosomal recessive centronuclear myopathy skos:narrowMatch OMIM:255200 semapv:UnspecifiedMatching +GARD:12718 Autosomal recessive centronuclear myopathy skos:narrowMatch OMIM:615959 semapv:UnspecifiedMatching +GARD:12719 Autosomal dominant centronuclear myopathy skos:exactMatch Orphanet:169189 semapv:UnspecifiedMatching +GARD:12719 Autosomal dominant centronuclear myopathy skos:narrowMatch OMIM:160150 semapv:UnspecifiedMatching +GARD:12720 Fingerprint body myopathy skos:exactMatch Orphanet:97232 semapv:UnspecifiedMatching +GARD:12720 Fingerprint body myopathy skos:narrowMatch OMIM:305550 semapv:UnspecifiedMatching +GARD:12722 Familial dyskinesia and facial myokymia skos:exactMatch Orphanet:324588 semapv:UnspecifiedMatching +GARD:12722 Familial dyskinesia and facial myokymia skos:narrowMatch OMIM:606703 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:300049 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:608097 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:608098 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:612881 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:615544 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:617201 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:618185 semapv:UnspecifiedMatching +GARD:12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:618918 semapv:UnspecifiedMatching +GARD:12731 X-linked hereditary sensory and autonomic neuropathy with deafness skos:exactMatch Orphanet:139583 semapv:UnspecifiedMatching +GARD:12731 X-linked hereditary sensory and autonomic neuropathy with deafness skos:narrowMatch OMIM:300614 semapv:UnspecifiedMatching +GARD:12732 Hereditary sensory and autonomic neuropathy type 7 skos:exactMatch Orphanet:391397 semapv:UnspecifiedMatching +GARD:12732 Hereditary sensory and autonomic neuropathy type 7 skos:narrowMatch OMIM:615548 semapv:UnspecifiedMatching +GARD:12733 Rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 semapv:UnspecifiedMatching +GARD:12736 Glomerular disease skos:exactMatch Orphanet:93548 semapv:UnspecifiedMatching +GARD:1274 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch Orphanet:2888 semapv:UnspecifiedMatching +GARD:1274 Pierre Robin syndrome-faciodigital anomaly syndrome skos:narrowMatch OMIM:311895 semapv:UnspecifiedMatching +GARD:12740 Non-amyloid fibrillary glomerulopathy skos:exactMatch Orphanet:97566 semapv:UnspecifiedMatching +GARD:12741 Immunotactoid or fibrillary glomerulopathy skos:exactMatch Orphanet:91137 semapv:UnspecifiedMatching +GARD:12742 Juvenile polymyositis skos:exactMatch Orphanet:93568 semapv:UnspecifiedMatching +GARD:12744 Chronic intestinal pseudoobstruction skos:exactMatch Orphanet:2978 semapv:UnspecifiedMatching +GARD:12744 Chronic intestinal pseudoobstruction skos:narrowMatch OMIM:243180 semapv:UnspecifiedMatching +GARD:12744 Chronic intestinal pseudoobstruction skos:narrowMatch OMIM:300048 semapv:UnspecifiedMatching +GARD:12744 Chronic intestinal pseudoobstruction skos:narrowMatch OMIM:601223 semapv:UnspecifiedMatching +GARD:12744 Chronic intestinal pseudoobstruction skos:narrowMatch OMIM:609629 semapv:UnspecifiedMatching +GARD:12749 Autosomal recessive spastic paraplegia type 32 skos:exactMatch Orphanet:171622 semapv:UnspecifiedMatching +GARD:12749 Autosomal recessive spastic paraplegia type 32 skos:narrowMatch OMIM:611252 semapv:UnspecifiedMatching +GARD:12757 Acute myeloid leukemia skos:exactMatch Orphanet:519 semapv:UnspecifiedMatching +GARD:12757 Acute myeloid leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:12758 Acute myeloid leukemia with recurrent genetic anomaly skos:exactMatch Orphanet:98277 semapv:UnspecifiedMatching +GARD:12758 Acute myeloid leukemia with recurrent genetic anomaly skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:12759 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) skos:exactMatch Orphanet:402020 semapv:UnspecifiedMatching +GARD:12760 Unclassified acute myeloid leukemia skos:exactMatch Orphanet:167714 semapv:UnspecifiedMatching +GARD:12760 Unclassified acute myeloid leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:12761 Acute myeloid leukaemia with myelodysplasia-related features skos:exactMatch Orphanet:86845 semapv:UnspecifiedMatching +GARD:12761 Acute myeloid leukaemia with myelodysplasia-related features skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:12762 Therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch Orphanet:86846 semapv:UnspecifiedMatching +GARD:12762 Therapy related acute myeloid leukemia and myelodysplastic syndrome skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:12763 Myeloid sarcoma skos:exactMatch Orphanet:86850 semapv:UnspecifiedMatching +GARD:12765 Transient myeloproliferative syndrome skos:exactMatch Orphanet:420611 semapv:UnspecifiedMatching +GARD:12765 Transient myeloproliferative syndrome skos:narrowMatch OMIM:159595 semapv:UnspecifiedMatching +GARD:12766 Microduplication Xp11.22p11.23 syndrome skos:exactMatch Orphanet:217377 semapv:UnspecifiedMatching +GARD:12766 Microduplication Xp11.22p11.23 syndrome skos:narrowMatch OMIM:300801 semapv:UnspecifiedMatching +GARD:12768 Reversible cerebral vasoconstriction syndrome skos:exactMatch Orphanet:284388 semapv:UnspecifiedMatching +GARD:12772 Rare malignant breast tumor skos:exactMatch Orphanet:180257 semapv:UnspecifiedMatching +GARD:12773 Rare adenocarcinoma of the breast skos:exactMatch Orphanet:213528 semapv:UnspecifiedMatching +GARD:12774 Salivary gland type cancer of the breast skos:exactMatch Orphanet:213557 semapv:UnspecifiedMatching +GARD:12775 Rare benign breast tumor skos:exactMatch Orphanet:180253 semapv:UnspecifiedMatching +GARD:12777 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 skos:exactMatch Orphanet:300496 semapv:UnspecifiedMatching +GARD:12777 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 skos:narrowMatch OMIM:300868 semapv:UnspecifiedMatching +GARD:12779 Familial retinal arterial macroaneurysm skos:exactMatch Orphanet:284247 semapv:UnspecifiedMatching +GARD:12779 Familial retinal arterial macroaneurysm skos:narrowMatch OMIM:614224 semapv:UnspecifiedMatching +GARD:12781 Multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch Orphanet:280633 semapv:UnspecifiedMatching +GARD:12781 Multiple congenital anomalies-hypotonia-seizures syndrome skos:narrowMatch OMIM:614080 semapv:UnspecifiedMatching +GARD:12782 Congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 semapv:UnspecifiedMatching +GARD:12784 Livedoid vasculopathy skos:exactMatch Orphanet:542643 semapv:UnspecifiedMatching +GARD:12794 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form skos:exactMatch Orphanet:89842 semapv:UnspecifiedMatching +GARD:12796 Dentinogenesis imperfecta type 2 skos:exactMatch Orphanet:166260 semapv:UnspecifiedMatching +GARD:12796 Dentinogenesis imperfecta type 2 skos:narrowMatch OMIM:125490 semapv:UnspecifiedMatching +GARD:12796 Dentinogenesis imperfecta type 2 skos:narrowMatch OMIM:605594 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:104300 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:104310 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:602096 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:604154 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:605055 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:605526 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:606187 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:606889 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:607116 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:607822 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:609636 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:609790 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611073 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611152 semapv:UnspecifiedMatching +GARD:12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611154 semapv:UnspecifiedMatching +GARD:12799 Alzheimer disease 2 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:12799 Alzheimer disease 2 skos:exactMatch OMIM:104310 semapv:UnspecifiedMatching +GARD:1280 Primary sclerosing cholangitis skos:exactMatch Orphanet:171 semapv:UnspecifiedMatching +GARD:1280 Primary sclerosing cholangitis skos:narrowMatch OMIM:602114 semapv:UnspecifiedMatching +GARD:1280 Primary sclerosing cholangitis skos:narrowMatch OMIM:613806 semapv:UnspecifiedMatching +GARD:12800 PTEN hamartoma tumor syndrome skos:exactMatch Orphanet:306498 semapv:UnspecifiedMatching +GARD:12801 Proteus-like syndrome skos:exactMatch Orphanet:2969 semapv:UnspecifiedMatching +GARD:12801 Proteus-like syndrome skos:narrowMatch OMIM:158350 semapv:UnspecifiedMatching +GARD:12806 Autosomal dominant spondylocostal dysostosis skos:exactMatch Orphanet:1797 semapv:UnspecifiedMatching +GARD:12806 Autosomal dominant spondylocostal dysostosis skos:narrowMatch OMIM:122600 semapv:UnspecifiedMatching +GARD:12807 Spondylocostal dysostosis 6, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +GARD:12807 Spondylocostal dysostosis 6, autosomal recessive skos:exactMatch OMIM:616566 semapv:UnspecifiedMatching +GARD:12811 Multisystemic smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 semapv:UnspecifiedMatching +GARD:12811 Multisystemic smooth muscle dysfunction syndrome skos:narrowMatch OMIM:613834 semapv:UnspecifiedMatching +GARD:12814 8q24.3 microdeletion syndrome skos:exactMatch Orphanet:508488 semapv:UnspecifiedMatching +GARD:12814 8q24.3 microdeletion syndrome skos:narrowMatch OMIM:615583 semapv:UnspecifiedMatching +GARD:12815 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch Orphanet:363686 semapv:UnspecifiedMatching +GARD:12815 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:narrowMatch OMIM:615074 semapv:UnspecifiedMatching +GARD:12816 8q12 microduplication syndrome skos:exactMatch Orphanet:228399 semapv:UnspecifiedMatching +GARD:12819 Generalized pustular psoriasis skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching +GARD:12819 Generalized pustular psoriasis skos:narrowMatch OMIM:614204 semapv:UnspecifiedMatching +GARD:12819 Generalized pustular psoriasis skos:narrowMatch OMIM:616106 semapv:UnspecifiedMatching +GARD:12820 Pustulosis palmaris et plantaris skos:exactMatch Orphanet:163927 semapv:UnspecifiedMatching +GARD:12821 Severe congenital nemaline myopathy skos:exactMatch Orphanet:171430 semapv:UnspecifiedMatching +GARD:12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +GARD:12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:256030 semapv:UnspecifiedMatching +GARD:12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:615348 semapv:UnspecifiedMatching +GARD:12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:615731 semapv:UnspecifiedMatching +GARD:12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:616165 semapv:UnspecifiedMatching +GARD:12822 Typical nemaline myopathy skos:exactMatch Orphanet:171436 semapv:UnspecifiedMatching +GARD:12822 Typical nemaline myopathy skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +GARD:12822 Typical nemaline myopathy skos:narrowMatch OMIM:256030 semapv:UnspecifiedMatching +GARD:12822 Typical nemaline myopathy skos:narrowMatch OMIM:609285 semapv:UnspecifiedMatching +GARD:12822 Typical nemaline myopathy skos:narrowMatch OMIM:610687 semapv:UnspecifiedMatching +GARD:12822 Typical nemaline myopathy skos:narrowMatch OMIM:615731 semapv:UnspecifiedMatching +GARD:12822 Typical nemaline myopathy skos:narrowMatch OMIM:616165 semapv:UnspecifiedMatching +GARD:12823 Intermediate nemaline myopathy skos:exactMatch Orphanet:171433 semapv:UnspecifiedMatching +GARD:12823 Intermediate nemaline myopathy skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +GARD:12823 Intermediate nemaline myopathy skos:narrowMatch OMIM:256030 semapv:UnspecifiedMatching +GARD:12823 Intermediate nemaline myopathy skos:narrowMatch OMIM:609284 semapv:UnspecifiedMatching +GARD:12823 Intermediate nemaline myopathy skos:narrowMatch OMIM:615731 semapv:UnspecifiedMatching +GARD:12824 Adult-onset nemaline myopathy skos:exactMatch Orphanet:171442 semapv:UnspecifiedMatching +GARD:12825 FOXG1 syndrome skos:exactMatch Orphanet:561854 semapv:UnspecifiedMatching +GARD:12827 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 semapv:UnspecifiedMatching +GARD:12827 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:narrowMatch OMIM:137940 semapv:UnspecifiedMatching +GARD:12827 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:narrowMatch OMIM:607823 semapv:UnspecifiedMatching +GARD:12829 Pulmonary non-tuberculous mycobacterial infection skos:exactMatch Orphanet:411703 semapv:UnspecifiedMatching +GARD:12832 Cardiomyopathy, dilated, 1s skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:12832 Cardiomyopathy, dilated, 1s skos:exactMatch OMIM:613426 semapv:UnspecifiedMatching +GARD:12835 Acute interstitial pneumonia skos:exactMatch Orphanet:79126 semapv:UnspecifiedMatching +GARD:12835 Acute interstitial pneumonia skos:narrowMatch OMIM:178500 semapv:UnspecifiedMatching +GARD:12843 Disseminated peritoneal leiomyomatosis skos:exactMatch Orphanet:71274 semapv:UnspecifiedMatching +GARD:12844 High myopia-sensorineural deafness syndrome skos:exactMatch Orphanet:363396 semapv:UnspecifiedMatching +GARD:12844 High myopia-sensorineural deafness syndrome skos:narrowMatch OMIM:221200 semapv:UnspecifiedMatching +GARD:12845 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome skos:exactMatch Orphanet:444077 semapv:UnspecifiedMatching +GARD:12845 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome skos:narrowMatch OMIM:616368 semapv:UnspecifiedMatching +GARD:12851 Intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:12851 Intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch OMIM:613970 semapv:UnspecifiedMatching +GARD:12854 Paroxysmal extreme pain disorder skos:exactMatch Orphanet:46348 semapv:UnspecifiedMatching +GARD:12854 Paroxysmal extreme pain disorder skos:narrowMatch OMIM:167400 semapv:UnspecifiedMatching +GARD:12860 Spinocerebellar ataxia with axonal neuropathy type 2 skos:exactMatch Orphanet:64753 semapv:UnspecifiedMatching +GARD:12860 Spinocerebellar ataxia with axonal neuropathy type 2 skos:narrowMatch OMIM:606002 semapv:UnspecifiedMatching +GARD:12860 Spinocerebellar ataxia with axonal neuropathy type 2 skos:narrowMatch OMIM:615217 semapv:UnspecifiedMatching +GARD:12861 RFVT3-related riboflavin transporter deficiency skos:exactMatch Orphanet:572550 semapv:UnspecifiedMatching +GARD:12861 RFVT3-related riboflavin transporter deficiency skos:narrowMatch OMIM:614707 semapv:UnspecifiedMatching +GARD:12862 Generalized peeling skin syndrome skos:exactMatch Orphanet:263543 semapv:UnspecifiedMatching +GARD:12862 Generalized peeling skin syndrome skos:narrowMatch OMIM:270300 semapv:UnspecifiedMatching +GARD:12862 Generalized peeling skin syndrome skos:narrowMatch OMIM:616265 semapv:UnspecifiedMatching +GARD:12863 Acral peeling skin syndrome skos:exactMatch Orphanet:263534 semapv:UnspecifiedMatching +GARD:12863 Acral peeling skin syndrome skos:narrowMatch OMIM:609796 semapv:UnspecifiedMatching +GARD:12864 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency skos:exactMatch Orphanet:140905 semapv:UnspecifiedMatching +GARD:12864 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency skos:narrowMatch OMIM:614025 semapv:UnspecifiedMatching +GARD:12867 Cushing disease skos:exactMatch Orphanet:96253 semapv:UnspecifiedMatching +GARD:12867 Cushing disease skos:narrowMatch OMIM:219090 semapv:UnspecifiedMatching +GARD:12868 IRVAN syndrome skos:exactMatch Orphanet:209943 semapv:UnspecifiedMatching +GARD:12874 Osteogenesis imperfecta, type x skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:12874 Osteogenesis imperfecta, type x skos:exactMatch OMIM:613848 semapv:UnspecifiedMatching +GARD:12875 Osteogenesis imperfecta, type xi skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:12875 Osteogenesis imperfecta, type xi skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:12875 Osteogenesis imperfecta, type xi skos:exactMatch OMIM:610968 semapv:UnspecifiedMatching +GARD:1288 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch Orphanet:79304 semapv:UnspecifiedMatching +GARD:1288 Progressive familial intrahepatic cholestasis type 2 skos:narrowMatch OMIM:601847 semapv:UnspecifiedMatching +GARD:1288 Progressive familial intrahepatic cholestasis type 2 skos:narrowMatch OMIM:615878 semapv:UnspecifiedMatching +GARD:12889 Isolated childhood apraxia of speech skos:exactMatch Orphanet:209908 semapv:UnspecifiedMatching +GARD:12889 Isolated childhood apraxia of speech skos:narrowMatch OMIM:602081 semapv:UnspecifiedMatching +GARD:1289 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch Orphanet:79305 semapv:UnspecifiedMatching +GARD:1289 Progressive familial intrahepatic cholestasis type 3 skos:narrowMatch OMIM:602347 semapv:UnspecifiedMatching +GARD:12892 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch Orphanet:352563 semapv:UnspecifiedMatching +GARD:12892 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:narrowMatch OMIM:615395 semapv:UnspecifiedMatching +GARD:12893 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch Orphanet:314051 semapv:UnspecifiedMatching +GARD:12893 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:narrowMatch OMIM:614924 semapv:UnspecifiedMatching +GARD:12894 Zika virus disease skos:exactMatch Orphanet:448237 semapv:UnspecifiedMatching +GARD:12900 Developmental and epileptic encephalopathy 4 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:12900 Developmental and epileptic encephalopathy 4 skos:broadMatch Orphanet:33069 semapv:UnspecifiedMatching +GARD:12900 Developmental and epileptic encephalopathy 4 skos:exactMatch OMIM:612164 semapv:UnspecifiedMatching +GARD:12901 Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:12901 Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch OMIM:615905 semapv:UnspecifiedMatching +GARD:12903 Optic atrophy-intellectual disability syndrome skos:exactMatch Orphanet:401777 semapv:UnspecifiedMatching +GARD:12903 Optic atrophy-intellectual disability syndrome skos:narrowMatch OMIM:615722 semapv:UnspecifiedMatching +GARD:12913 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome skos:exactMatch Orphanet:500533 semapv:UnspecifiedMatching +GARD:12913 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome skos:narrowMatch OMIM:611087 semapv:UnspecifiedMatching +GARD:12915 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 semapv:UnspecifiedMatching +GARD:12915 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:narrowMatch OMIM:300636 semapv:UnspecifiedMatching +GARD:12916 Rh deficiency syndrome skos:exactMatch Orphanet:71275 semapv:UnspecifiedMatching +GARD:12916 Rh deficiency syndrome skos:narrowMatch OMIM:268150 semapv:UnspecifiedMatching +GARD:12916 Rh deficiency syndrome skos:narrowMatch OMIM:617970 semapv:UnspecifiedMatching +GARD:12919 Malignant migrating focal seizures of infancy skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching +GARD:12919 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:613722 semapv:UnspecifiedMatching +GARD:12919 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:614959 semapv:UnspecifiedMatching +GARD:12919 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:615338 semapv:UnspecifiedMatching +GARD:12919 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:616645 semapv:UnspecifiedMatching +GARD:1292 Familial calcium pyrophosphate deposition skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching +GARD:1292 Familial calcium pyrophosphate deposition skos:narrowMatch OMIM:118600 semapv:UnspecifiedMatching +GARD:1292 Familial calcium pyrophosphate deposition skos:narrowMatch OMIM:600668 semapv:UnspecifiedMatching +GARD:12921 Late-onset junctional epidermolysis bullosa skos:exactMatch Orphanet:79406 semapv:UnspecifiedMatching +GARD:12922 Intermediate generalized junctional epidermolysis bullosa skos:exactMatch Orphanet:79402 semapv:UnspecifiedMatching +GARD:12922 Intermediate generalized junctional epidermolysis bullosa skos:narrowMatch OMIM:226650 semapv:UnspecifiedMatching +GARD:12923 Localized junctional epidermolysis bullosa skos:exactMatch Orphanet:251393 semapv:UnspecifiedMatching +GARD:12923 Localized junctional epidermolysis bullosa skos:narrowMatch OMIM:226650 semapv:UnspecifiedMatching +GARD:12924 Preeclampsia skos:exactMatch Orphanet:275555 semapv:UnspecifiedMatching +GARD:12924 Preeclampsia skos:narrowMatch OMIM:189800 semapv:UnspecifiedMatching +GARD:12924 Preeclampsia skos:narrowMatch OMIM:609402 semapv:UnspecifiedMatching +GARD:12924 Preeclampsia skos:narrowMatch OMIM:609403 semapv:UnspecifiedMatching +GARD:12924 Preeclampsia skos:narrowMatch OMIM:609404 semapv:UnspecifiedMatching +GARD:12924 Preeclampsia skos:narrowMatch OMIM:614595 semapv:UnspecifiedMatching +GARD:12925 Familial multiple lipomatosis skos:exactMatch Orphanet:199276 semapv:UnspecifiedMatching +GARD:12925 Familial multiple lipomatosis skos:narrowMatch OMIM:151900 semapv:UnspecifiedMatching +GARD:12927 Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma skos:exactMatch Orphanet:90059 semapv:UnspecifiedMatching +GARD:12928 Astrocytoma skos:exactMatch Orphanet:94 semapv:UnspecifiedMatching +GARD:12928 Astrocytoma skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +GARD:12931 ADNP syndrome skos:exactMatch Orphanet:404448 semapv:UnspecifiedMatching +GARD:12931 ADNP syndrome skos:narrowMatch OMIM:615873 semapv:UnspecifiedMatching +GARD:12943 X-linked hypophosphatemia skos:exactMatch Orphanet:89936 semapv:UnspecifiedMatching +GARD:12943 X-linked hypophosphatemia skos:narrowMatch OMIM:307800 semapv:UnspecifiedMatching +GARD:12949 Developmental and epileptic encephalopathy 5 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:12949 Developmental and epileptic encephalopathy 5 skos:exactMatch OMIM:613477 semapv:UnspecifiedMatching +GARD:12958 C1q deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +GARD:12958 C1q deficiency skos:exactMatch OMIM:613652 semapv:UnspecifiedMatching +GARD:12959 Primary orthostatic hypotension skos:exactMatch Orphanet:182058 semapv:UnspecifiedMatching +GARD:1296 Brachytelephalangic chondrodysplasia punctata skos:exactMatch Orphanet:79345 semapv:UnspecifiedMatching +GARD:1296 Brachytelephalangic chondrodysplasia punctata skos:narrowMatch OMIM:302950 semapv:UnspecifiedMatching +GARD:1296 Brachytelephalangic chondrodysplasia punctata skos:narrowMatch OMIM:602497 semapv:UnspecifiedMatching +GARD:12963 MEGDEL syndrome skos:exactMatch Orphanet:352328 semapv:UnspecifiedMatching +GARD:12963 MEGDEL syndrome skos:narrowMatch OMIM:614739 semapv:UnspecifiedMatching +GARD:12964 Dilated cardiomyopathy with ataxia skos:exactMatch Orphanet:66634 semapv:UnspecifiedMatching +GARD:12964 Dilated cardiomyopathy with ataxia skos:narrowMatch OMIM:610198 semapv:UnspecifiedMatching +GARD:12966 3-methylglutaconic aciduria skos:exactMatch Orphanet:289902 semapv:UnspecifiedMatching +GARD:12976 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch Orphanet:319558 semapv:UnspecifiedMatching +GARD:12976 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:narrowMatch OMIM:614890 semapv:UnspecifiedMatching +GARD:12977 Mendelian susceptibility to mycobacterial diseases skos:exactMatch Orphanet:748 semapv:UnspecifiedMatching +GARD:12978 Proximal myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 semapv:UnspecifiedMatching +GARD:12978 Proximal myopathy with extrapyramidal signs skos:narrowMatch OMIM:615673 semapv:UnspecifiedMatching +GARD:12980 Monoclonal mast cell activation syndrome skos:exactMatch Orphanet:529468 semapv:UnspecifiedMatching +GARD:12983 Hereditary folate malabsorption skos:exactMatch Orphanet:90045 semapv:UnspecifiedMatching +GARD:12983 Hereditary folate malabsorption skos:narrowMatch OMIM:229050 semapv:UnspecifiedMatching +GARD:12986 Acyl-CoA dehydrogenase 9 deficiency skos:exactMatch Orphanet:99901 semapv:UnspecifiedMatching +GARD:12986 Acyl-CoA dehydrogenase 9 deficiency skos:narrowMatch OMIM:611126 semapv:UnspecifiedMatching +GARD:12987 Hereditary sensory and autonomic neuropathy type 6 skos:exactMatch Orphanet:314381 semapv:UnspecifiedMatching +GARD:12987 Hereditary sensory and autonomic neuropathy type 6 skos:narrowMatch OMIM:614653 semapv:UnspecifiedMatching +GARD:12991 Aquagenic palmoplantar keratoderma skos:exactMatch Orphanet:498359 semapv:UnspecifiedMatching +GARD:13 Aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch Orphanet:1065 semapv:UnspecifiedMatching +GARD:13 Aniridia-cerebellar ataxia-intellectual disability syndrome skos:narrowMatch OMIM:206700 semapv:UnspecifiedMatching +GARD:1300 Acromesomelic dysplasia, Grebe type skos:exactMatch Orphanet:2098 semapv:UnspecifiedMatching +GARD:1300 Acromesomelic dysplasia, Grebe type skos:narrowMatch OMIM:200700 semapv:UnspecifiedMatching +GARD:13003 Lupus erythematosus tumidus skos:exactMatch Orphanet:90283 semapv:UnspecifiedMatching +GARD:13004 Hepatic veno-occlusive disease skos:exactMatch Orphanet:890 semapv:UnspecifiedMatching +GARD:13007 Hemoglobin M disease skos:exactMatch Orphanet:330041 semapv:UnspecifiedMatching +GARD:13007 Hemoglobin M disease skos:narrowMatch OMIM:617971 semapv:UnspecifiedMatching +GARD:13007 Hemoglobin M disease skos:narrowMatch OMIM:617973 semapv:UnspecifiedMatching +GARD:1301 Ellis Van Creveld syndrome skos:exactMatch Orphanet:289 semapv:UnspecifiedMatching +GARD:1301 Ellis Van Creveld syndrome skos:narrowMatch OMIM:225500 semapv:UnspecifiedMatching +GARD:1301 Ellis Van Creveld syndrome skos:narrowMatch OMIM:617088 semapv:UnspecifiedMatching +GARD:1301 Ellis Van Creveld syndrome skos:narrowMatch OMIM:618123 semapv:UnspecifiedMatching +GARD:13011 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:exactMatch Orphanet:156152 semapv:UnspecifiedMatching +GARD:13015 Obesity due to congenital leptin deficiency skos:exactMatch Orphanet:66628 semapv:UnspecifiedMatching +GARD:13015 Obesity due to congenital leptin deficiency skos:narrowMatch OMIM:614962 semapv:UnspecifiedMatching +GARD:13016 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:exactMatch Orphanet:238569 semapv:UnspecifiedMatching +GARD:13016 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:narrowMatch OMIM:612567 semapv:UnspecifiedMatching +GARD:13016 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:narrowMatch OMIM:613148 semapv:UnspecifiedMatching +GARD:13019 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:13019 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch OMIM:616277 semapv:UnspecifiedMatching +GARD:13020 Microcystic lymphatic malformation skos:exactMatch Orphanet:79490 semapv:UnspecifiedMatching +GARD:13025 Woolly hair nevus skos:exactMatch Orphanet:79414 semapv:UnspecifiedMatching +GARD:13025 Woolly hair nevus skos:narrowMatch OMIM:162900 semapv:UnspecifiedMatching +GARD:1303 Chordoma skos:exactMatch Orphanet:178 semapv:UnspecifiedMatching +GARD:1303 Chordoma skos:narrowMatch OMIM:215400 semapv:UnspecifiedMatching +GARD:13030 Deafness-lymphedema-leukemia syndrome skos:exactMatch Orphanet:3226 semapv:UnspecifiedMatching +GARD:13030 Deafness-lymphedema-leukemia syndrome skos:narrowMatch OMIM:614038 semapv:UnspecifiedMatching +GARD:13032 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation skos:exactMatch Orphanet:300570 semapv:UnspecifiedMatching +GARD:13032 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation skos:narrowMatch OMIM:614039 semapv:UnspecifiedMatching +GARD:13034 Neuroendocrine tumor of pancreas skos:exactMatch Orphanet:97253 semapv:UnspecifiedMatching +GARD:13040 Necrobiosis lipoidica skos:exactMatch Orphanet:542592 semapv:UnspecifiedMatching +GARD:13041 Thrombophilia due to protein c deficiency, autosomal recessive skos:broadMatch Orphanet:745 semapv:UnspecifiedMatching +GARD:13041 Thrombophilia due to protein c deficiency, autosomal recessive skos:exactMatch OMIM:612304 semapv:UnspecifiedMatching +GARD:13043 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome skos:exactMatch Orphanet:329224 semapv:UnspecifiedMatching +GARD:13043 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome skos:narrowMatch OMIM:615009 semapv:UnspecifiedMatching +GARD:13046 Giant cell tumor of bone skos:exactMatch Orphanet:363976 semapv:UnspecifiedMatching +GARD:13047 Germ cell tumor of testis skos:exactMatch Orphanet:363504 semapv:UnspecifiedMatching +GARD:13047 Germ cell tumor of testis skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +GARD:1305 Benign hereditary chorea skos:exactMatch Orphanet:1429 semapv:UnspecifiedMatching +GARD:1305 Benign hereditary chorea skos:narrowMatch OMIM:118700 semapv:UnspecifiedMatching +GARD:1305 Benign hereditary chorea skos:narrowMatch OMIM:215450 semapv:UnspecifiedMatching +GARD:13056 Congenital analbuminemia skos:exactMatch Orphanet:86816 semapv:UnspecifiedMatching +GARD:13056 Congenital analbuminemia skos:narrowMatch OMIM:616000 semapv:UnspecifiedMatching +GARD:13058 Autosomal dominant multiple pterygium syndrome skos:exactMatch Orphanet:65743 semapv:UnspecifiedMatching +GARD:13058 Autosomal dominant multiple pterygium syndrome skos:narrowMatch OMIM:178110 semapv:UnspecifiedMatching +GARD:13059 Distal arthrogryposis type 5D skos:exactMatch Orphanet:329457 semapv:UnspecifiedMatching +GARD:13059 Distal arthrogryposis type 5D skos:narrowMatch OMIM:615065 semapv:UnspecifiedMatching +GARD:13060 KCNQ2-related epileptic encephalopathy skos:exactMatch Orphanet:439218 semapv:UnspecifiedMatching +GARD:13060 KCNQ2-related epileptic encephalopathy skos:narrowMatch OMIM:613720 semapv:UnspecifiedMatching +GARD:13063 Bockenheimer syndrome skos:exactMatch Orphanet:217008 semapv:UnspecifiedMatching +GARD:13070 Lewis-Sumner syndrome skos:exactMatch Orphanet:48162 semapv:UnspecifiedMatching +GARD:13072 Primary hypomagnesemia with secondary hypocalcemia skos:exactMatch Orphanet:30924 semapv:UnspecifiedMatching +GARD:13072 Primary hypomagnesemia with secondary hypocalcemia skos:narrowMatch OMIM:602014 semapv:UnspecifiedMatching +GARD:13073 Nevus comedonicus syndrome skos:exactMatch Orphanet:64754 semapv:UnspecifiedMatching +GARD:13073 Nevus comedonicus syndrome skos:narrowMatch OMIM:617025 semapv:UnspecifiedMatching +GARD:13075 Diffuse intrinsic pontine glioma skos:exactMatch Orphanet:497188 semapv:UnspecifiedMatching +GARD:13085 Developmental and epileptic encephalopathy 13 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:13085 Developmental and epileptic encephalopathy 13 skos:exactMatch OMIM:614558 semapv:UnspecifiedMatching +GARD:13101 Corticosteroid-binding globulin deficiency skos:exactMatch Orphanet:199247 semapv:UnspecifiedMatching +GARD:13101 Corticosteroid-binding globulin deficiency skos:narrowMatch OMIM:611489 semapv:UnspecifiedMatching +GARD:13105 Dent disease skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching +GARD:13105 Dent disease skos:narrowMatch OMIM:300009 semapv:UnspecifiedMatching +GARD:13105 Dent disease skos:narrowMatch OMIM:300554 semapv:UnspecifiedMatching +GARD:13105 Dent disease skos:narrowMatch OMIM:300555 semapv:UnspecifiedMatching +GARD:13105 Dent disease skos:narrowMatch OMIM:308990 semapv:UnspecifiedMatching +GARD:13105 Dent disease skos:narrowMatch OMIM:310468 semapv:UnspecifiedMatching +GARD:13108 MIRAGE syndrome skos:exactMatch Orphanet:494433 semapv:UnspecifiedMatching +GARD:13108 MIRAGE syndrome skos:narrowMatch OMIM:617053 semapv:UnspecifiedMatching +GARD:13110 Progressive encephalomyelitis with rigidity and myoclonus skos:exactMatch Orphanet:438266 semapv:UnspecifiedMatching +GARD:13110 Progressive encephalomyelitis with rigidity and myoclonus skos:narrowMatch OMIM:184850 semapv:UnspecifiedMatching +GARD:13111 Ataxia-oculomotor apraxia type 4 skos:exactMatch Orphanet:459033 semapv:UnspecifiedMatching +GARD:13111 Ataxia-oculomotor apraxia type 4 skos:narrowMatch OMIM:616267 semapv:UnspecifiedMatching +GARD:13112 Ataxia-oculomotor apraxia 3 skos:broadMatch Orphanet:64753 semapv:UnspecifiedMatching +GARD:13112 Ataxia-oculomotor apraxia 3 skos:exactMatch OMIM:615217 semapv:UnspecifiedMatching +GARD:13113 Infantile liver failure syndrome 2 skos:broadMatch Orphanet:464724 semapv:UnspecifiedMatching +GARD:13113 Infantile liver failure syndrome 2 skos:exactMatch OMIM:616483 semapv:UnspecifiedMatching +GARD:13114 Acute infantile liver failure-multisystemic involvement syndrome skos:exactMatch Orphanet:370088 semapv:UnspecifiedMatching +GARD:13114 Acute infantile liver failure-multisystemic involvement syndrome skos:narrowMatch OMIM:615438 semapv:UnspecifiedMatching +GARD:13124 Chronic thromboembolic pulmonary hypertension skos:exactMatch Orphanet:70591 semapv:UnspecifiedMatching +GARD:13124 Chronic thromboembolic pulmonary hypertension skos:narrowMatch OMIM:612862 semapv:UnspecifiedMatching +GARD:13125 CIDEC-related familial partial lipodystrophy skos:exactMatch Orphanet:435651 semapv:UnspecifiedMatching +GARD:13125 CIDEC-related familial partial lipodystrophy skos:narrowMatch OMIM:615238 semapv:UnspecifiedMatching +GARD:13126 LIPE-related familial partial lipodystrophy skos:exactMatch Orphanet:435660 semapv:UnspecifiedMatching +GARD:13126 LIPE-related familial partial lipodystrophy skos:narrowMatch OMIM:615980 semapv:UnspecifiedMatching +GARD:1313 Infantile choroidocerebral calcification syndrome skos:exactMatch Orphanet:1313 semapv:UnspecifiedMatching +GARD:1313 Infantile choroidocerebral calcification syndrome skos:narrowMatch OMIM:215480 semapv:UnspecifiedMatching +GARD:13136 Intellectual developmental disorder, autosomal dominant 30 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:13136 Intellectual developmental disorder, autosomal dominant 30 skos:broadMatch Orphanet:436151 semapv:UnspecifiedMatching +GARD:13136 Intellectual developmental disorder, autosomal dominant 30 skos:exactMatch OMIM:616083 semapv:UnspecifiedMatching +GARD:13137 Methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch Orphanet:369962 semapv:UnspecifiedMatching +GARD:13137 Methylmalonic acidemia with homocystinuria, type cblX skos:narrowMatch OMIM:309541 semapv:UnspecifiedMatching +GARD:13142 Acute flaccid myelitis skos:exactMatch Orphanet:623801 semapv:UnspecifiedMatching +GARD:13154 Tibial muscular dystrophy skos:exactMatch Orphanet:609 semapv:UnspecifiedMatching +GARD:13154 Tibial muscular dystrophy skos:narrowMatch OMIM:600334 semapv:UnspecifiedMatching +GARD:13155 Early-onset lamellar cataract skos:exactMatch Orphanet:441452 semapv:UnspecifiedMatching +GARD:13155 Early-onset lamellar cataract skos:narrowMatch OMIM:116100 semapv:UnspecifiedMatching +GARD:13155 Early-onset lamellar cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +GARD:13155 Early-onset lamellar cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +GARD:13156 Oligodendroglial tumor skos:exactMatch Orphanet:46484 semapv:UnspecifiedMatching +GARD:13157 Hereditary papillary renal cell carcinoma skos:exactMatch Orphanet:47044 semapv:UnspecifiedMatching +GARD:13157 Hereditary papillary renal cell carcinoma skos:narrowMatch OMIM:605074 semapv:UnspecifiedMatching +GARD:13158 Staphylococcal scalded skin syndrome skos:exactMatch Orphanet:36236 semapv:UnspecifiedMatching +GARD:13160 Rhizomelic chondrodysplasia punctata skos:exactMatch Orphanet:177 semapv:UnspecifiedMatching +GARD:13160 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:215100 semapv:UnspecifiedMatching +GARD:13160 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:222765 semapv:UnspecifiedMatching +GARD:13160 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:600121 semapv:UnspecifiedMatching +GARD:13160 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:616716 semapv:UnspecifiedMatching +GARD:13163 Methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 semapv:UnspecifiedMatching +GARD:13167 Familial isolated trichomegaly skos:exactMatch Orphanet:411788 semapv:UnspecifiedMatching +GARD:13167 Familial isolated trichomegaly skos:narrowMatch OMIM:190330 semapv:UnspecifiedMatching +GARD:13168 Corticobasal syndrome skos:exactMatch Orphanet:454887 semapv:UnspecifiedMatching +GARD:13169 CHST3-related skeletal dysplasia skos:exactMatch Orphanet:263463 semapv:UnspecifiedMatching +GARD:13169 CHST3-related skeletal dysplasia skos:narrowMatch OMIM:143095 semapv:UnspecifiedMatching +GARD:13171 Autosomal recessive brachyolmia skos:exactMatch Orphanet:448242 semapv:UnspecifiedMatching +GARD:13171 Autosomal recessive brachyolmia skos:narrowMatch OMIM:271530 semapv:UnspecifiedMatching +GARD:13171 Autosomal recessive brachyolmia skos:narrowMatch OMIM:271630 semapv:UnspecifiedMatching +GARD:13173 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:exactMatch Orphanet:639 semapv:UnspecifiedMatching +GARD:13174 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +GARD:13174 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 skos:exactMatch OMIM:157640 semapv:UnspecifiedMatching +GARD:13175 Renal medullary carcinoma skos:exactMatch Orphanet:319319 semapv:UnspecifiedMatching +GARD:13177 S-adenosylhomocysteine hydrolase deficiency skos:exactMatch Orphanet:88618 semapv:UnspecifiedMatching +GARD:13177 S-adenosylhomocysteine hydrolase deficiency skos:narrowMatch OMIM:613752 semapv:UnspecifiedMatching +GARD:13179 Intellectual developmental disorder, autosomal dominant 43 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:13179 Intellectual developmental disorder, autosomal dominant 43 skos:exactMatch OMIM:616977 semapv:UnspecifiedMatching +GARD:13186 Xanthoma disseminatum skos:exactMatch Orphanet:158003 semapv:UnspecifiedMatching +GARD:1319 Chromomycosis skos:exactMatch Orphanet:182 semapv:UnspecifiedMatching +GARD:13197 Developmental and epileptic encephalopathy 94 skos:broadMatch Orphanet:1942 semapv:UnspecifiedMatching +GARD:13197 Developmental and epileptic encephalopathy 94 skos:broadMatch Orphanet:2382 semapv:UnspecifiedMatching +GARD:13197 Developmental and epileptic encephalopathy 94 skos:exactMatch OMIM:615369 semapv:UnspecifiedMatching +GARD:13198 Infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch Orphanet:500062 semapv:UnspecifiedMatching +GARD:13198 Infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:narrowMatch OMIM:617099 semapv:UnspecifiedMatching +GARD:13199 Cystic leukoencephalopathy without megalencephaly skos:exactMatch Orphanet:85136 semapv:UnspecifiedMatching +GARD:13199 Cystic leukoencephalopathy without megalencephaly skos:narrowMatch OMIM:612951 semapv:UnspecifiedMatching +GARD:132 Primary cutaneous amyloidosis skos:exactMatch Orphanet:137807 semapv:UnspecifiedMatching +GARD:1320 Ring chromosome 1 syndrome skos:exactMatch Orphanet:1437 semapv:UnspecifiedMatching +GARD:13200 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy skos:exactMatch Orphanet:255235 semapv:UnspecifiedMatching +GARD:13200 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy skos:narrowMatch OMIM:612075 semapv:UnspecifiedMatching +GARD:13201 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch Orphanet:401948 semapv:UnspecifiedMatching +GARD:13201 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:narrowMatch OMIM:615751 semapv:UnspecifiedMatching +GARD:13202 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch Orphanet:88639 semapv:UnspecifiedMatching +GARD:13202 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:narrowMatch OMIM:250620 semapv:UnspecifiedMatching +GARD:13206 2q32q33 microdeletion syndrome skos:exactMatch Orphanet:251019 semapv:UnspecifiedMatching +GARD:13206 2q32q33 microdeletion syndrome skos:narrowMatch OMIM:612313 semapv:UnspecifiedMatching +GARD:13209 Pituitary stalk interruption syndrome skos:exactMatch Orphanet:95496 semapv:UnspecifiedMatching +GARD:13215 Renal cell carcinoma skos:exactMatch Orphanet:217071 semapv:UnspecifiedMatching +GARD:13218 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome skos:exactMatch Orphanet:221043 semapv:UnspecifiedMatching +GARD:13218 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome skos:narrowMatch OMIM:615704 semapv:UnspecifiedMatching +GARD:13219 BAP1-related tumor predisposition syndrome skos:exactMatch Orphanet:289539 semapv:UnspecifiedMatching +GARD:13219 BAP1-related tumor predisposition syndrome skos:narrowMatch OMIM:614327 semapv:UnspecifiedMatching +GARD:1322 Ring chromosome 10 syndrome skos:exactMatch Orphanet:1438 semapv:UnspecifiedMatching +GARD:13221 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome skos:exactMatch Orphanet:397933 semapv:UnspecifiedMatching +GARD:13222 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:363454 semapv:UnspecifiedMatching +GARD:13222 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:615290 semapv:UnspecifiedMatching +GARD:1323 Distal monosomy 10p skos:exactMatch Orphanet:1580 semapv:UnspecifiedMatching +GARD:1323 Distal monosomy 10p skos:narrowMatch OMIM:601362 semapv:UnspecifiedMatching +GARD:13232 Familial acute necrotizing encephalopathy skos:exactMatch Orphanet:88619 semapv:UnspecifiedMatching +GARD:13232 Familial acute necrotizing encephalopathy skos:narrowMatch OMIM:608033 semapv:UnspecifiedMatching +GARD:13235 Microphthalmia, syndromic 12 skos:broadMatch Orphanet:2470 semapv:UnspecifiedMatching +GARD:13235 Microphthalmia, syndromic 12 skos:exactMatch OMIM:615524 semapv:UnspecifiedMatching +GARD:13237 Marginal zone lymphoma skos:exactMatch Orphanet:300912 semapv:UnspecifiedMatching +GARD:13244 X-linked intellectual disability, Cabezas type skos:exactMatch Orphanet:85293 semapv:UnspecifiedMatching +GARD:13244 X-linked intellectual disability, Cabezas type skos:narrowMatch OMIM:300354 semapv:UnspecifiedMatching +GARD:1325 Ring chromosome 12 syndrome skos:exactMatch Orphanet:1439 semapv:UnspecifiedMatching +GARD:13256 IgG4-related pachymeningitis skos:exactMatch Orphanet:449427 semapv:UnspecifiedMatching +GARD:13259 Bainbridge-Ropers syndrome skos:exactMatch Orphanet:352577 semapv:UnspecifiedMatching +GARD:13259 Bainbridge-Ropers syndrome skos:narrowMatch OMIM:615485 semapv:UnspecifiedMatching +GARD:13264 Infantile cerebellar-retinal degeneration skos:exactMatch Orphanet:313850 semapv:UnspecifiedMatching +GARD:13264 Infantile cerebellar-retinal degeneration skos:narrowMatch OMIM:614559 semapv:UnspecifiedMatching +GARD:1327 Mosaic trisomy 14 skos:exactMatch Orphanet:1703 semapv:UnspecifiedMatching +GARD:13273 Phosphoserine aminotransferase deficiency, infantile/juvenile form skos:exactMatch Orphanet:284417 semapv:UnspecifiedMatching +GARD:13273 Phosphoserine aminotransferase deficiency, infantile/juvenile form skos:narrowMatch OMIM:610992 semapv:UnspecifiedMatching +GARD:1328 Ring chromosome 15 syndrome skos:exactMatch Orphanet:96177 semapv:UnspecifiedMatching +GARD:13293 Bleeding diathesis due to glycoprotein VI deficiency skos:exactMatch Orphanet:98885 semapv:UnspecifiedMatching +GARD:13293 Bleeding diathesis due to glycoprotein VI deficiency skos:narrowMatch OMIM:614201 semapv:UnspecifiedMatching +GARD:13295 Familial focal epilepsy with variable foci skos:exactMatch Orphanet:98820 semapv:UnspecifiedMatching +GARD:13295 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:604364 semapv:UnspecifiedMatching +GARD:13295 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:617116 semapv:UnspecifiedMatching +GARD:13295 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:617118 semapv:UnspecifiedMatching +GARD:13296 17q12 microduplication syndrome skos:exactMatch Orphanet:261272 semapv:UnspecifiedMatching +GARD:13296 17q12 microduplication syndrome skos:narrowMatch OMIM:614526 semapv:UnspecifiedMatching +GARD:13297 17q12 microdeletion syndrome skos:exactMatch Orphanet:261265 semapv:UnspecifiedMatching +GARD:13297 17q12 microdeletion syndrome skos:narrowMatch OMIM:614527 semapv:UnspecifiedMatching +GARD:13298 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies skos:exactMatch Orphanet:369897 semapv:UnspecifiedMatching +GARD:13298 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies skos:narrowMatch OMIM:615471 semapv:UnspecifiedMatching +GARD:13316 MAGEL2-related Prader-Willi-like syndrome skos:exactMatch Orphanet:398069 semapv:UnspecifiedMatching +GARD:13316 MAGEL2-related Prader-Willi-like syndrome skos:narrowMatch OMIM:615547 semapv:UnspecifiedMatching +GARD:13318 Developmental and epileptic encephalopathy 12 skos:broadMatch Orphanet:293181 semapv:UnspecifiedMatching +GARD:13318 Developmental and epileptic encephalopathy 12 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:13318 Developmental and epileptic encephalopathy 12 skos:exactMatch OMIM:613722 semapv:UnspecifiedMatching +GARD:13319 Fatty acyl-CoA reductase 1 deficiency skos:exactMatch Orphanet:438178 semapv:UnspecifiedMatching +GARD:13319 Fatty acyl-CoA reductase 1 deficiency skos:narrowMatch OMIM:616154 semapv:UnspecifiedMatching +GARD:13320 Rhizomelic chondrodysplasia punctata type 5 skos:exactMatch Orphanet:468717 semapv:UnspecifiedMatching +GARD:13320 Rhizomelic chondrodysplasia punctata type 5 skos:narrowMatch OMIM:616716 semapv:UnspecifiedMatching +GARD:1333 Ring chromosome 19 syndrome skos:exactMatch Orphanet:1443 semapv:UnspecifiedMatching +GARD:13331 Familial reactive perforating collagenosis skos:exactMatch Orphanet:79147 semapv:UnspecifiedMatching +GARD:13331 Familial reactive perforating collagenosis skos:narrowMatch OMIM:216700 semapv:UnspecifiedMatching +GARD:13337 Idiopathic interstitial pneumonia skos:exactMatch Orphanet:98300 semapv:UnspecifiedMatching +GARD:13339 BENTA disease skos:exactMatch Orphanet:464336 semapv:UnspecifiedMatching +GARD:13339 BENTA disease skos:narrowMatch OMIM:616452 semapv:UnspecifiedMatching +GARD:1334 Ring chromosome 20 syndrome skos:exactMatch Orphanet:1444 semapv:UnspecifiedMatching +GARD:13349 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch Orphanet:420584 semapv:UnspecifiedMatching +GARD:13349 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:narrowMatch OMIM:615849 semapv:UnspecifiedMatching +GARD:13354 Morning glory disc anomaly skos:exactMatch Orphanet:35737 semapv:UnspecifiedMatching +GARD:13354 Morning glory disc anomaly skos:narrowMatch OMIM:120430 semapv:UnspecifiedMatching +GARD:1336 Ring chromosome 22 syndrome skos:exactMatch Orphanet:1446 semapv:UnspecifiedMatching +GARD:13371 MAGIC syndrome skos:exactMatch Orphanet:324972 semapv:UnspecifiedMatching +GARD:13376 Epiphyseal dysplasia, multiple, 6 skos:broadMatch Orphanet:166002 semapv:UnspecifiedMatching +GARD:13376 Epiphyseal dysplasia, multiple, 6 skos:exactMatch OMIM:614135 semapv:UnspecifiedMatching +GARD:13378 Developmental and epileptic encephalopathy 17 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:13378 Developmental and epileptic encephalopathy 17 skos:exactMatch OMIM:615473 semapv:UnspecifiedMatching +GARD:13379 Intellectual developmental disorder, autosomal dominant 29 skos:broadMatch Orphanet:436151 semapv:UnspecifiedMatching +GARD:13379 Intellectual developmental disorder, autosomal dominant 29 skos:exactMatch OMIM:616078 semapv:UnspecifiedMatching +GARD:13388 Congenital generalized lipodystrophy skos:exactMatch Orphanet:528 semapv:UnspecifiedMatching +GARD:13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:269700 semapv:UnspecifiedMatching +GARD:13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:606721 semapv:UnspecifiedMatching +GARD:13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:608594 semapv:UnspecifiedMatching +GARD:13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:612526 semapv:UnspecifiedMatching +GARD:13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:613327 semapv:UnspecifiedMatching +GARD:13389 Lipodystrophy, congenital generalized, type 3 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +GARD:13389 Lipodystrophy, congenital generalized, type 3 skos:exactMatch OMIM:612526 semapv:UnspecifiedMatching +GARD:1339 Ring chromosome 4 syndrome skos:exactMatch Orphanet:1447 semapv:UnspecifiedMatching +GARD:13390 12q14 microdeletion syndrome skos:exactMatch Orphanet:94063 semapv:UnspecifiedMatching +GARD:13391 2p15p16.1 microdeletion syndrome skos:exactMatch Orphanet:261349 semapv:UnspecifiedMatching +GARD:13391 2p15p16.1 microdeletion syndrome skos:narrowMatch OMIM:612513 semapv:UnspecifiedMatching +GARD:134 Spondyloepimetaphyseal dysplasia congenita, Strudwick type skos:exactMatch Orphanet:93346 semapv:UnspecifiedMatching +GARD:134 Spondyloepimetaphyseal dysplasia congenita, Strudwick type skos:narrowMatch OMIM:184250 semapv:UnspecifiedMatching +GARD:13409 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome skos:exactMatch Orphanet:412069 semapv:UnspecifiedMatching +GARD:13409 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome skos:narrowMatch OMIM:615829 semapv:UnspecifiedMatching +GARD:13418 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation skos:exactMatch Orphanet:453504 semapv:UnspecifiedMatching +GARD:13418 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation skos:narrowMatch OMIM:616580 semapv:UnspecifiedMatching +GARD:13423 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch Orphanet:480864 semapv:UnspecifiedMatching +GARD:13423 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:narrowMatch OMIM:616878 semapv:UnspecifiedMatching +GARD:13425 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch Orphanet:447997 semapv:UnspecifiedMatching +GARD:13425 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:narrowMatch OMIM:616657 semapv:UnspecifiedMatching +GARD:13431 Temple syndrome skos:exactMatch Orphanet:254516 semapv:UnspecifiedMatching +GARD:13431 Temple syndrome skos:narrowMatch OMIM:616222 semapv:UnspecifiedMatching +GARD:13446 Plasmacytoma skos:exactMatch Orphanet:86855 semapv:UnspecifiedMatching +GARD:13447 PENS syndrome skos:exactMatch Orphanet:313936 semapv:UnspecifiedMatching +GARD:1345 Ring chromosome 7 syndrome skos:exactMatch Orphanet:1449 semapv:UnspecifiedMatching +GARD:13451 Kaposiform lymphangiomatosis skos:exactMatch Orphanet:464329 semapv:UnspecifiedMatching +GARD:13461 REN-related autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:217330 semapv:UnspecifiedMatching +GARD:13461 REN-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:613092 semapv:UnspecifiedMatching +GARD:1347 Ring chromosome 8 syndrome skos:exactMatch Orphanet:1450 semapv:UnspecifiedMatching +GARD:13472 FTH1-related iron overload skos:exactMatch Orphanet:247790 semapv:UnspecifiedMatching +GARD:13472 FTH1-related iron overload skos:narrowMatch OMIM:615517 semapv:UnspecifiedMatching +GARD:13474 Intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch Orphanet:468620 semapv:UnspecifiedMatching +GARD:13474 Intellectual disability-epilepsy-extrapyramidal syndrome skos:narrowMatch OMIM:617171 semapv:UnspecifiedMatching +GARD:1348 Ring chromosome 9 syndrome skos:exactMatch Orphanet:96173 semapv:UnspecifiedMatching +GARD:13488 MEPAN syndrome skos:exactMatch Orphanet:508093 semapv:UnspecifiedMatching +GARD:13488 MEPAN syndrome skos:narrowMatch OMIM:617282 semapv:UnspecifiedMatching +GARD:13489 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome skos:exactMatch Orphanet:500150 semapv:UnspecifiedMatching +GARD:13489 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome skos:narrowMatch OMIM:617140 semapv:UnspecifiedMatching +GARD:13519 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:209341 semapv:UnspecifiedMatching +GARD:13519 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:158600 semapv:UnspecifiedMatching +GARD:13524 Intellectual developmental disorder, autosomal dominant 56 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:13524 Intellectual developmental disorder, autosomal dominant 56 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:13524 Intellectual developmental disorder, autosomal dominant 56 skos:exactMatch OMIM:617854 semapv:UnspecifiedMatching +GARD:13527 DYRK1A-related intellectual disability syndrome skos:exactMatch Orphanet:464306 semapv:UnspecifiedMatching +GARD:13527 DYRK1A-related intellectual disability syndrome skos:narrowMatch OMIM:614104 semapv:UnspecifiedMatching +GARD:13539 Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:13539 Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features skos:exactMatch OMIM:616579 semapv:UnspecifiedMatching +GARD:1356 CINCA syndrome skos:exactMatch Orphanet:1451 semapv:UnspecifiedMatching +GARD:1356 CINCA syndrome skos:narrowMatch OMIM:607115 semapv:UnspecifiedMatching +GARD:13565 Combined immunodeficiency due to LRBA deficiency skos:exactMatch Orphanet:445018 semapv:UnspecifiedMatching +GARD:13565 Combined immunodeficiency due to LRBA deficiency skos:narrowMatch OMIM:614700 semapv:UnspecifiedMatching +GARD:13568 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation skos:exactMatch Orphanet:320385 semapv:UnspecifiedMatching +GARD:13568 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation skos:narrowMatch OMIM:615031 semapv:UnspecifiedMatching +GARD:13571 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch Orphanet:293955 semapv:UnspecifiedMatching +GARD:13571 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:narrowMatch OMIM:614458 semapv:UnspecifiedMatching +GARD:1358 Intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch Orphanet:3068 semapv:UnspecifiedMatching +GARD:1358 Intellectual disability-myopathy-short stature-endocrine defect syndrome skos:narrowMatch OMIM:253320 semapv:UnspecifiedMatching +GARD:13587 Combined immunodeficiency with granulomatosis skos:exactMatch Orphanet:157949 semapv:UnspecifiedMatching +GARD:13587 Combined immunodeficiency with granulomatosis skos:narrowMatch OMIM:233650 semapv:UnspecifiedMatching +GARD:13588 Pontiac fever skos:exactMatch Orphanet:99748 semapv:UnspecifiedMatching +GARD:1359 Chylous ascites skos:exactMatch Orphanet:1160 semapv:UnspecifiedMatching +GARD:1359 Chylous ascites skos:narrowMatch OMIM:208300 semapv:UnspecifiedMatching +GARD:13591 Postural orthostatic tachycardia syndrome due to NET deficiency skos:exactMatch Orphanet:443236 semapv:UnspecifiedMatching +GARD:13591 Postural orthostatic tachycardia syndrome due to NET deficiency skos:narrowMatch OMIM:604715 semapv:UnspecifiedMatching +GARD:13592 Severe congenital neutropenia skos:exactMatch Orphanet:42738 semapv:UnspecifiedMatching +GARD:13593 Rosette-forming glioneuronal tumor skos:exactMatch Orphanet:251975 semapv:UnspecifiedMatching +GARD:13594 Brain dopamine-serotonin vesicular transport disease skos:exactMatch Orphanet:352649 semapv:UnspecifiedMatching +GARD:13594 Brain dopamine-serotonin vesicular transport disease skos:narrowMatch OMIM:618049 semapv:UnspecifiedMatching +GARD:1360 Ciliary discoordination due to random ciliary orientation skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:1360 Ciliary discoordination due to random ciliary orientation skos:exactMatch OMIM:215518 semapv:UnspecifiedMatching +GARD:13606 Subcorneal pustular dermatosis skos:exactMatch Orphanet:48377 semapv:UnspecifiedMatching +GARD:1361 Ciliary dyskinesia with transposition of ciliary microtubules skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:1361 Ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch OMIM:215520 semapv:UnspecifiedMatching +GARD:13613 Pneumonia caused by Pseudomonas aeruginosa infection skos:exactMatch Orphanet:90066 semapv:UnspecifiedMatching +GARD:13621 CAD-CDG skos:exactMatch Orphanet:448010 semapv:UnspecifiedMatching +GARD:13621 CAD-CDG skos:narrowMatch OMIM:616457 semapv:UnspecifiedMatching +GARD:13629 Drug reaction with eosinophilia and systemic symptoms skos:exactMatch Orphanet:139402 semapv:UnspecifiedMatching +GARD:13636 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch Orphanet:457485 semapv:UnspecifiedMatching +GARD:13636 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:narrowMatch OMIM:616638 semapv:UnspecifiedMatching +GARD:13638 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch Orphanet:480880 semapv:UnspecifiedMatching +GARD:13638 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:narrowMatch OMIM:300968 semapv:UnspecifiedMatching +GARD:13639 Classic galactosemia skos:exactMatch Orphanet:79239 semapv:UnspecifiedMatching +GARD:13639 Classic galactosemia skos:narrowMatch OMIM:230400 semapv:UnspecifiedMatching +GARD:13641 Familial cerebral cavernous malformation skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching +GARD:13641 Familial cerebral cavernous malformation skos:narrowMatch OMIM:116860 semapv:UnspecifiedMatching +GARD:13641 Familial cerebral cavernous malformation skos:narrowMatch OMIM:603284 semapv:UnspecifiedMatching +GARD:13641 Familial cerebral cavernous malformation skos:narrowMatch OMIM:603285 semapv:UnspecifiedMatching +GARD:13643 Mitochondrial DNA depletion syndrome skos:exactMatch Orphanet:35698 semapv:UnspecifiedMatching +GARD:13644 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency skos:exactMatch Orphanet:279934 semapv:UnspecifiedMatching +GARD:13644 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency skos:narrowMatch OMIM:251880 semapv:UnspecifiedMatching +GARD:13655 Orofaciodigital syndrome type 14 skos:exactMatch Orphanet:434179 semapv:UnspecifiedMatching +GARD:13655 Orofaciodigital syndrome type 14 skos:narrowMatch OMIM:615948 semapv:UnspecifiedMatching +GARD:13658 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch Orphanet:500180 semapv:UnspecifiedMatching +GARD:13658 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:narrowMatch OMIM:617672 semapv:UnspecifiedMatching +GARD:13661 Classic multiminicore myopathy skos:exactMatch Orphanet:324604 semapv:UnspecifiedMatching +GARD:13661 Classic multiminicore myopathy skos:narrowMatch OMIM:602771 semapv:UnspecifiedMatching +GARD:13663 Familial sick sinus syndrome skos:exactMatch Orphanet:166282 semapv:UnspecifiedMatching +GARD:13663 Familial sick sinus syndrome skos:narrowMatch OMIM:163800 semapv:UnspecifiedMatching +GARD:13663 Familial sick sinus syndrome skos:narrowMatch OMIM:182190 semapv:UnspecifiedMatching +GARD:13663 Familial sick sinus syndrome skos:narrowMatch OMIM:608567 semapv:UnspecifiedMatching +GARD:13663 Familial sick sinus syndrome skos:narrowMatch OMIM:614090 semapv:UnspecifiedMatching +GARD:13676 Developmental and epileptic encephalopathy 18 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:13676 Developmental and epileptic encephalopathy 18 skos:exactMatch OMIM:615476 semapv:UnspecifiedMatching +GARD:13686 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:13686 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch OMIM:614254 semapv:UnspecifiedMatching +GARD:1369 Tibial aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:3329 semapv:UnspecifiedMatching +GARD:1369 Tibial aplasia-ectrodactyly syndrome skos:narrowMatch OMIM:119100 semapv:UnspecifiedMatching +GARD:1369 Tibial aplasia-ectrodactyly syndrome skos:narrowMatch OMIM:610685 semapv:UnspecifiedMatching +GARD:1369 Tibial aplasia-ectrodactyly syndrome skos:narrowMatch OMIM:612576 semapv:UnspecifiedMatching +GARD:13701 Primary cutaneous follicle center lymphoma skos:exactMatch Orphanet:178540 semapv:UnspecifiedMatching +GARD:13708 Warsaw breakage syndrome skos:exactMatch Orphanet:280558 semapv:UnspecifiedMatching +GARD:13708 Warsaw breakage syndrome skos:narrowMatch OMIM:613398 semapv:UnspecifiedMatching +GARD:13712 Combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch Orphanet:231154 semapv:UnspecifiedMatching +GARD:13712 Combined immunodeficiency due to partial RAG1 deficiency skos:narrowMatch OMIM:609889 semapv:UnspecifiedMatching +GARD:13731 T-cell prolymphocytic leukemia skos:exactMatch Orphanet:86871 semapv:UnspecifiedMatching +GARD:13737 Spastic paraplegia 51, autosomal recessive skos:broadMatch Orphanet:280763 semapv:UnspecifiedMatching +GARD:13737 Spastic paraplegia 51, autosomal recessive skos:exactMatch OMIM:613744 semapv:UnspecifiedMatching +GARD:13743 Multicentric osteolysis, nodulosis, and arthropathy skos:broadMatch Orphanet:371428 semapv:UnspecifiedMatching +GARD:13743 Multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch OMIM:259600 semapv:UnspecifiedMatching +GARD:13774 White-Sutton syndrome skos:exactMatch Orphanet:468678 semapv:UnspecifiedMatching +GARD:13774 White-Sutton syndrome skos:narrowMatch OMIM:616364 semapv:UnspecifiedMatching +GARD:13781 AICA-ribosiduria skos:exactMatch Orphanet:250977 semapv:UnspecifiedMatching +GARD:13781 AICA-ribosiduria skos:narrowMatch OMIM:608688 semapv:UnspecifiedMatching +GARD:13789 Luscan-Lumish syndrome skos:exactMatch Orphanet:597738 semapv:UnspecifiedMatching +GARD:13806 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome skos:exactMatch Orphanet:599082 semapv:UnspecifiedMatching +GARD:13806 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome skos:narrowMatch OMIM:618205 semapv:UnspecifiedMatching +GARD:13809 Fundus albipunctatus skos:exactMatch Orphanet:227796 semapv:UnspecifiedMatching +GARD:13809 Fundus albipunctatus skos:narrowMatch OMIM:136880 semapv:UnspecifiedMatching +GARD:13811 Malan overgrowth syndrome skos:exactMatch Orphanet:420179 semapv:UnspecifiedMatching +GARD:13811 Malan overgrowth syndrome skos:narrowMatch OMIM:614753 semapv:UnspecifiedMatching +GARD:13818 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency skos:exactMatch Orphanet:506334 semapv:UnspecifiedMatching +GARD:13818 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency skos:narrowMatch OMIM:617575 semapv:UnspecifiedMatching +GARD:13824 Proteasome-associated autoinflammatory syndrome skos:exactMatch Orphanet:324977 semapv:UnspecifiedMatching +GARD:13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:256040 semapv:UnspecifiedMatching +GARD:13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:617591 semapv:UnspecifiedMatching +GARD:13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:618048 semapv:UnspecifiedMatching +GARD:13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:619175 semapv:UnspecifiedMatching +GARD:13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:619183 semapv:UnspecifiedMatching +GARD:139 Familial atrial myxoma skos:exactMatch Orphanet:615 semapv:UnspecifiedMatching +GARD:139 Familial atrial myxoma skos:narrowMatch OMIM:255960 semapv:UnspecifiedMatching +GARD:1391 Cleft palate-lateral synechia syndrome skos:exactMatch Orphanet:2016 semapv:UnspecifiedMatching +GARD:1391 Cleft palate-lateral synechia syndrome skos:narrowMatch OMIM:119550 semapv:UnspecifiedMatching +GARD:1392 Cleft palate-short stature-vertebral anomalies syndrome skos:exactMatch Orphanet:2015 semapv:UnspecifiedMatching +GARD:1393 Cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch Orphanet:2010 semapv:UnspecifiedMatching +GARD:1393 Cleft palate-stapes fixation-oligodontia syndrome skos:narrowMatch OMIM:216300 semapv:UnspecifiedMatching +GARD:1394 X-linked cleft palate and ankyloglossia skos:exactMatch Orphanet:324601 semapv:UnspecifiedMatching +GARD:1394 X-linked cleft palate and ankyloglossia skos:narrowMatch OMIM:303400 semapv:UnspecifiedMatching +GARD:140 Atresia of small intestine skos:exactMatch Orphanet:1201 semapv:UnspecifiedMatching +GARD:140 Atresia of small intestine skos:narrowMatch OMIM:243600 semapv:UnspecifiedMatching +GARD:1402 Thanatophoric dysplasia type 2 skos:exactMatch Orphanet:93274 semapv:UnspecifiedMatching +GARD:1402 Thanatophoric dysplasia type 2 skos:narrowMatch OMIM:156830 semapv:UnspecifiedMatching +GARD:1402 Thanatophoric dysplasia type 2 skos:narrowMatch OMIM:187601 semapv:UnspecifiedMatching +GARD:1404 Micromelic bone dysplasia with cloverleaf skull skos:broadMatch Orphanet:93274 semapv:UnspecifiedMatching +GARD:1404 Micromelic bone dysplasia with cloverleaf skull skos:exactMatch OMIM:156830 semapv:UnspecifiedMatching +GARD:1410 Joubert syndrome with hepatic defect skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching +GARD:1410 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:216360 semapv:UnspecifiedMatching +GARD:1410 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:619111 semapv:UnspecifiedMatching +GARD:1410 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:619113 semapv:UnspecifiedMatching +GARD:1413 Cocaine embryofetopathy skos:exactMatch Orphanet:1911 semapv:UnspecifiedMatching +GARD:1415 Cockayne syndrome type 1 skos:exactMatch Orphanet:90321 semapv:UnspecifiedMatching +GARD:1415 Cockayne syndrome type 1 skos:narrowMatch OMIM:133540 semapv:UnspecifiedMatching +GARD:1415 Cockayne syndrome type 1 skos:narrowMatch OMIM:216400 semapv:UnspecifiedMatching +GARD:1417 Cockayne syndrome type 3 skos:exactMatch Orphanet:90324 semapv:UnspecifiedMatching +GARD:1417 Cockayne syndrome type 3 skos:narrowMatch OMIM:133540 semapv:UnspecifiedMatching +GARD:1417 Cockayne syndrome type 3 skos:narrowMatch OMIM:216400 semapv:UnspecifiedMatching +GARD:1418 CODAS syndrome skos:exactMatch Orphanet:1458 semapv:UnspecifiedMatching +GARD:1418 CODAS syndrome skos:narrowMatch OMIM:600373 semapv:UnspecifiedMatching +GARD:1420 Cockayne syndrome type 2 skos:exactMatch Orphanet:90322 semapv:UnspecifiedMatching +GARD:1420 Cockayne syndrome type 2 skos:narrowMatch OMIM:133540 semapv:UnspecifiedMatching +GARD:1420 Cockayne syndrome type 2 skos:narrowMatch OMIM:216400 semapv:UnspecifiedMatching +GARD:1421 Cogan syndrome skos:exactMatch Orphanet:1467 semapv:UnspecifiedMatching +GARD:1425 Cole-Carpenter syndrome skos:exactMatch Orphanet:2050 semapv:UnspecifiedMatching +GARD:1425 Cole-Carpenter syndrome skos:narrowMatch OMIM:112240 semapv:UnspecifiedMatching +GARD:1425 Cole-Carpenter syndrome skos:narrowMatch OMIM:616294 semapv:UnspecifiedMatching +GARD:1428 Dislocation of the hip-dysmorphism syndrome skos:exactMatch Orphanet:2412 semapv:UnspecifiedMatching +GARD:1428 Dislocation of the hip-dysmorphism syndrome skos:narrowMatch OMIM:601450 semapv:UnspecifiedMatching +GARD:143 Hypertrichosis cubiti skos:exactMatch Orphanet:2220 semapv:UnspecifiedMatching +GARD:143 Hypertrichosis cubiti skos:narrowMatch OMIM:139600 semapv:UnspecifiedMatching +GARD:1433 Coloboma of eye lens skos:exactMatch Orphanet:98943 semapv:UnspecifiedMatching +GARD:1434 Coloboma of iris skos:exactMatch Orphanet:98944 semapv:UnspecifiedMatching +GARD:1434 Coloboma of iris skos:narrowMatch OMIM:120200 semapv:UnspecifiedMatching +GARD:1436 Coloboma of macula skos:exactMatch Orphanet:98945 semapv:UnspecifiedMatching +GARD:1437 Coloboma of macula-brachydactyly type B syndrome skos:exactMatch Orphanet:1471 semapv:UnspecifiedMatching +GARD:1437 Coloboma of macula-brachydactyly type B syndrome skos:narrowMatch OMIM:120400 semapv:UnspecifiedMatching +GARD:1438 Coloboma of optic disc skos:exactMatch Orphanet:98947 semapv:UnspecifiedMatching +GARD:144 Prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch Orphanet:2083 semapv:UnspecifiedMatching +GARD:144 Prominent glabella-microcephaly-hypogenitalism syndrome skos:narrowMatch OMIM:247990 semapv:UnspecifiedMatching +GARD:1440 Uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch Orphanet:1473 semapv:UnspecifiedMatching +GARD:1440 Uveal coloboma-cleft lip and palate-intellectual disability skos:narrowMatch OMIM:120433 semapv:UnspecifiedMatching +GARD:1443 Anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch Orphanet:77298 semapv:UnspecifiedMatching +GARD:1443 Anophthalmia/microphthalmia-esophageal atresia syndrome skos:narrowMatch OMIM:206900 semapv:UnspecifiedMatching +GARD:1446 Colonic atresia skos:exactMatch Orphanet:1198 semapv:UnspecifiedMatching +GARD:1446 Colonic atresia skos:narrowMatch OMIM:303650 semapv:UnspecifiedMatching +GARD:1452 Complement component 2 deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +GARD:1452 Complement component 2 deficiency skos:exactMatch OMIM:217000 semapv:UnspecifiedMatching +GARD:1454 Complete atrioventricular septal defect skos:exactMatch Orphanet:1329 semapv:UnspecifiedMatching +GARD:1460 Conductive deafness-malformed external ear syndrome skos:exactMatch Orphanet:3216 semapv:UnspecifiedMatching +GARD:1460 Conductive deafness-malformed external ear syndrome skos:narrowMatch OMIM:221300 semapv:UnspecifiedMatching +GARD:1462 Cone-rod dystrophy, x-linked, 2 skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +GARD:1462 Cone-rod dystrophy, x-linked, 2 skos:exactMatch OMIM:300085 semapv:UnspecifiedMatching +GARD:1463 Jalili syndrome skos:exactMatch Orphanet:1873 semapv:UnspecifiedMatching +GARD:1463 Jalili syndrome skos:narrowMatch OMIM:217080 semapv:UnspecifiedMatching +GARD:1465 Congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:90790 semapv:UnspecifiedMatching +GARD:1465 Congenital lipoid adrenal hyperplasia due to STAR deficency skos:narrowMatch OMIM:201710 semapv:UnspecifiedMatching +GARD:1467 Congenital adrenal hyperplasia skos:exactMatch Orphanet:418 semapv:UnspecifiedMatching +GARD:1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:201710 semapv:UnspecifiedMatching +GARD:1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:201810 semapv:UnspecifiedMatching +GARD:1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:201910 semapv:UnspecifiedMatching +GARD:1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:202010 semapv:UnspecifiedMatching +GARD:1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:202110 semapv:UnspecifiedMatching +GARD:1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:613571 semapv:UnspecifiedMatching +GARD:1469 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch Orphanet:90793 semapv:UnspecifiedMatching +GARD:1469 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:narrowMatch OMIM:202110 semapv:UnspecifiedMatching +GARD:1470 Alopecia, congenital skos:broadMatch Orphanet:700 semapv:UnspecifiedMatching +GARD:1470 Alopecia, congenital skos:exactMatch OMIM:300042 semapv:UnspecifiedMatching +GARD:1474 Autosomal dominant congenital benign spinal muscular atrophy skos:exactMatch Orphanet:1216 semapv:UnspecifiedMatching +GARD:1474 Autosomal dominant congenital benign spinal muscular atrophy skos:narrowMatch OMIM:600175 semapv:UnspecifiedMatching +GARD:1475 Congenital respiratory-biliary fistula skos:exactMatch Orphanet:2040 semapv:UnspecifiedMatching +GARD:1480 Fetal cytomegalovirus syndrome skos:exactMatch Orphanet:294 semapv:UnspecifiedMatching +GARD:1481 Congenital diaphragmatic hernia skos:exactMatch Orphanet:2140 semapv:UnspecifiedMatching +GARD:1481 Congenital diaphragmatic hernia skos:narrowMatch OMIM:142340 semapv:UnspecifiedMatching +GARD:1481 Congenital diaphragmatic hernia skos:narrowMatch OMIM:222400 semapv:UnspecifiedMatching +GARD:1481 Congenital diaphragmatic hernia skos:narrowMatch OMIM:306950 semapv:UnspecifiedMatching +GARD:1481 Congenital diaphragmatic hernia skos:narrowMatch OMIM:610187 semapv:UnspecifiedMatching +GARD:1487 Congenital hypothyroidism skos:exactMatch Orphanet:442 semapv:UnspecifiedMatching +GARD:1489 Congenital ichthyosis-microcephalus-tetraplegia syndrome skos:exactMatch Orphanet:2271 semapv:UnspecifiedMatching +GARD:1493 Congenital mesoblastic nephroma skos:exactMatch Orphanet:2665 semapv:UnspecifiedMatching +GARD:1495 Congenital mitral malformation skos:exactMatch Orphanet:2447 semapv:UnspecifiedMatching +GARD:1496 Congenital mitral stenosis skos:exactMatch Orphanet:99057 semapv:UnspecifiedMatching +GARD:1500 Congenital nephrotic syndrome, Finnish type skos:exactMatch Orphanet:839 semapv:UnspecifiedMatching +GARD:1500 Congenital nephrotic syndrome, Finnish type skos:narrowMatch OMIM:256300 semapv:UnspecifiedMatching +GARD:15000 LIG4 syndrome skos:exactMatch Orphanet:99812 semapv:UnspecifiedMatching +GARD:15000 LIG4 syndrome skos:narrowMatch OMIM:606593 semapv:UnspecifiedMatching +GARD:15001 VEXAS syndrome skos:exactMatch Orphanet:596753 semapv:UnspecifiedMatching +GARD:15001 VEXAS syndrome skos:narrowMatch OMIM:301054 semapv:UnspecifiedMatching +GARD:15002 AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY skos:relatedMatch OMIM:618852 semapv:UnspecifiedMatching +GARD:15003 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome skos:exactMatch Orphanet:566175 semapv:UnspecifiedMatching +GARD:15003 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome skos:narrowMatch OMIM:226300 semapv:UnspecifiedMatching +GARD:15004 FADD-related immunodeficiency skos:exactMatch Orphanet:306550 semapv:UnspecifiedMatching +GARD:15004 FADD-related immunodeficiency skos:narrowMatch OMIM:613759 semapv:UnspecifiedMatching +GARD:15007 Warburg-Cinotti syndrome skos:relatedMatch OMIM:618175 semapv:UnspecifiedMatching +GARD:15008 Okur-Chung neurodevelopmental syndrome (OCNDS) skos:relatedMatch OMIM:617062 semapv:UnspecifiedMatching +GARD:15010 Hereditary breast and ovarian cancer syndrome skos:exactMatch Orphanet:145 semapv:UnspecifiedMatching +GARD:15010 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:604370 semapv:UnspecifiedMatching +GARD:15010 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:612555 semapv:UnspecifiedMatching +GARD:15010 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:613399 semapv:UnspecifiedMatching +GARD:15010 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:614291 semapv:UnspecifiedMatching +GARD:15011 Hypophosphatemic rickets, x-linked recessive skos:broadMatch Orphanet:93622 semapv:UnspecifiedMatching +GARD:15011 Hypophosphatemic rickets, x-linked recessive skos:exactMatch OMIM:300554 semapv:UnspecifiedMatching +GARD:15012 Autosomal recessive malignant osteopetrosis skos:exactMatch Orphanet:667 semapv:UnspecifiedMatching +GARD:15012 Autosomal recessive malignant osteopetrosis skos:narrowMatch OMIM:259700 semapv:UnspecifiedMatching +GARD:15012 Autosomal recessive malignant osteopetrosis skos:narrowMatch OMIM:259710 semapv:UnspecifiedMatching +GARD:15012 Autosomal recessive malignant osteopetrosis skos:narrowMatch OMIM:611490 semapv:UnspecifiedMatching +GARD:15012 Autosomal recessive malignant osteopetrosis skos:narrowMatch OMIM:615085 semapv:UnspecifiedMatching +GARD:15013 Craniometaphyseal dysplasia skos:exactMatch Orphanet:1522 semapv:UnspecifiedMatching +GARD:15013 Craniometaphyseal dysplasia skos:narrowMatch OMIM:123000 semapv:UnspecifiedMatching +GARD:15013 Craniometaphyseal dysplasia skos:narrowMatch OMIM:218400 semapv:UnspecifiedMatching +GARD:15014 Solitary fibrous tumor/hemangiopericytoma skos:exactMatch Orphanet:2126 semapv:UnspecifiedMatching +GARD:15014 Solitary fibrous tumor/hemangiopericytoma skos:narrowMatch OMIM:234820 semapv:UnspecifiedMatching +GARD:15015 Achromatopsia skos:exactMatch Orphanet:49382 semapv:UnspecifiedMatching +GARD:15015 Achromatopsia skos:narrowMatch OMIM:216900 semapv:UnspecifiedMatching +GARD:15015 Achromatopsia skos:narrowMatch OMIM:262300 semapv:UnspecifiedMatching +GARD:15015 Achromatopsia skos:narrowMatch OMIM:610024 semapv:UnspecifiedMatching +GARD:15015 Achromatopsia skos:narrowMatch OMIM:613093 semapv:UnspecifiedMatching +GARD:15015 Achromatopsia skos:narrowMatch OMIM:613856 semapv:UnspecifiedMatching +GARD:15015 Achromatopsia skos:narrowMatch OMIM:616517 semapv:UnspecifiedMatching +GARD:15016 Striate palmoplantar keratoderma skos:exactMatch Orphanet:50942 semapv:UnspecifiedMatching +GARD:15016 Striate palmoplantar keratoderma skos:narrowMatch OMIM:148700 semapv:UnspecifiedMatching +GARD:15016 Striate palmoplantar keratoderma skos:narrowMatch OMIM:607654 semapv:UnspecifiedMatching +GARD:15016 Striate palmoplantar keratoderma skos:narrowMatch OMIM:612908 semapv:UnspecifiedMatching +GARD:15017 Trichorhinophalangeal syndrome type 1 and 3 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching +GARD:15017 Trichorhinophalangeal syndrome type 1 and 3 skos:narrowMatch OMIM:190350 semapv:UnspecifiedMatching +GARD:15017 Trichorhinophalangeal syndrome type 1 and 3 skos:narrowMatch OMIM:190351 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:exactMatch Orphanet:1478 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:narrowMatch OMIM:108800 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:narrowMatch OMIM:607941 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:narrowMatch OMIM:611363 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:narrowMatch OMIM:612794 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:narrowMatch OMIM:613087 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:narrowMatch OMIM:614089 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:narrowMatch OMIM:614433 semapv:UnspecifiedMatching +GARD:15018 Interatrial communication skos:narrowMatch OMIM:614475 semapv:UnspecifiedMatching +GARD:15019 Fibronectin glomerulopathy skos:exactMatch Orphanet:84090 semapv:UnspecifiedMatching +GARD:15019 Fibronectin glomerulopathy skos:narrowMatch OMIM:137950 semapv:UnspecifiedMatching +GARD:15019 Fibronectin glomerulopathy skos:narrowMatch OMIM:601894 semapv:UnspecifiedMatching +GARD:1502 Short bowel syndrome skos:exactMatch Orphanet:104008 semapv:UnspecifiedMatching +GARD:15020 Non-acquired panhypopituitarism skos:exactMatch Orphanet:90695 semapv:UnspecifiedMatching +GARD:15020 Non-acquired panhypopituitarism skos:narrowMatch OMIM:262600 semapv:UnspecifiedMatching +GARD:15020 Non-acquired panhypopituitarism skos:narrowMatch OMIM:312000 semapv:UnspecifiedMatching +GARD:15021 Angioma serpiginosum skos:exactMatch Orphanet:95429 semapv:UnspecifiedMatching +GARD:15021 Angioma serpiginosum skos:narrowMatch OMIM:106050 semapv:UnspecifiedMatching +GARD:15021 Angioma serpiginosum skos:narrowMatch OMIM:300652 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:254300 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:601462 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:605809 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:608930 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:608931 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:614198 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:615120 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616304 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616313 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616314 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616321 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616322 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616323 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616324 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616325 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616326 semapv:UnspecifiedMatching +GARD:15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616720 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:exactMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:254210 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:615120 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616040 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616330 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616720 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:617143 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:617239 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:618197 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:618198 semapv:UnspecifiedMatching +GARD:15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:618323 semapv:UnspecifiedMatching +GARD:15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch Orphanet:166002 semapv:UnspecifiedMatching +GARD:15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:600204 semapv:UnspecifiedMatching +GARD:15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:600969 semapv:UnspecifiedMatching +GARD:15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:614135 semapv:UnspecifiedMatching +GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency skos:exactMatch Orphanet:169147 semapv:UnspecifiedMatching +GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:216950 semapv:UnspecifiedMatching +GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:217000 semapv:UnspecifiedMatching +GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:613652 semapv:UnspecifiedMatching +GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:613783 semapv:UnspecifiedMatching +GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:614379 semapv:UnspecifiedMatching +GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:614380 semapv:UnspecifiedMatching +GARD:15026 Hermansky-Pudlak syndrome due to AP-3 deficiency skos:exactMatch Orphanet:183678 semapv:UnspecifiedMatching +GARD:15026 Hermansky-Pudlak syndrome due to AP-3 deficiency skos:narrowMatch OMIM:608233 semapv:UnspecifiedMatching +GARD:15026 Hermansky-Pudlak syndrome due to AP-3 deficiency skos:narrowMatch OMIM:617050 semapv:UnspecifiedMatching +GARD:15027 Pulmonary capillary hemangiomatosis skos:exactMatch Orphanet:199241 semapv:UnspecifiedMatching +GARD:15027 Pulmonary capillary hemangiomatosis skos:narrowMatch OMIM:234810 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:301008 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:301058 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:614558 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615476 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615833 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615871 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615905 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616056 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616211 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616339 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616346 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616366 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616409 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617020 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617105 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617106 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617132 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617153 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617162 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617166 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617829 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617830 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617831 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617836 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617854 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617938 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618008 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618012 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618201 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618396 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618437 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618468 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618557 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618559 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618910 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618916 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618959 semapv:UnspecifiedMatching +GARD:15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:619124 semapv:UnspecifiedMatching +GARD:15029 Aarskog syndrome, autosomal dominant skos:broadMatch Orphanet:915 semapv:UnspecifiedMatching +GARD:15029 Aarskog syndrome, autosomal dominant skos:exactMatch OMIM:100050 semapv:UnspecifiedMatching +GARD:1503 Femoral agenesis/hypoplasia skos:exactMatch Orphanet:1987 semapv:UnspecifiedMatching +GARD:15030 Acrodysostosis 1 with or without hormone resistance skos:broadMatch Orphanet:280651 semapv:UnspecifiedMatching +GARD:15030 Acrodysostosis 1 with or without hormone resistance skos:broadMatch Orphanet:950 semapv:UnspecifiedMatching +GARD:15030 Acrodysostosis 1 with or without hormone resistance skos:exactMatch OMIM:101800 semapv:UnspecifiedMatching +GARD:15031 Acroosteolysis skos:broadMatch Orphanet:955 semapv:UnspecifiedMatching +GARD:15031 Acroosteolysis skos:exactMatch OMIM:102400 semapv:UnspecifiedMatching +GARD:15032 Spermatogenic failure 6 skos:broadMatch Orphanet:171709 semapv:UnspecifiedMatching +GARD:15032 Spermatogenic failure 6 skos:exactMatch OMIM:102530 semapv:UnspecifiedMatching +GARD:15033 Adrenocortical hypofunction, chronic primary congenital skos:broadMatch Orphanet:85138 semapv:UnspecifiedMatching +GARD:15033 Adrenocortical hypofunction, chronic primary congenital skos:exactMatch OMIM:103230 semapv:UnspecifiedMatching +GARD:15034 Allergic bronchopulmonary aspergillosis, familial skos:broadMatch Orphanet:1164 semapv:UnspecifiedMatching +GARD:15034 Allergic bronchopulmonary aspergillosis, familial skos:exactMatch OMIM:103920 semapv:UnspecifiedMatching +GARD:15035 Alopecia areata 1 skos:broadMatch Orphanet:700 semapv:UnspecifiedMatching +GARD:15035 Alopecia areata 1 skos:exactMatch OMIM:104000 semapv:UnspecifiedMatching +GARD:15036 Alternating hemiplegia of childhood 1 skos:broadMatch Orphanet:2131 semapv:UnspecifiedMatching +GARD:15036 Alternating hemiplegia of childhood 1 skos:exactMatch OMIM:104290 semapv:UnspecifiedMatching +GARD:15037 Amelogenesis imperfecta, type ib skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +GARD:15037 Amelogenesis imperfecta, type ib skos:exactMatch OMIM:104500 semapv:UnspecifiedMatching +GARD:15038 Amelogenesis imperfecta, type ia skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +GARD:15038 Amelogenesis imperfecta, type ia skos:exactMatch OMIM:104530 semapv:UnspecifiedMatching +GARD:15039 Diamond-blackfan anemia 1 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15039 Diamond-blackfan anemia 1 skos:exactMatch OMIM:105650 semapv:UnspecifiedMatching +GARD:15040 Nail disorder, nonsyndromic congenital, 6 skos:broadMatch Orphanet:90390 semapv:UnspecifiedMatching +GARD:15040 Nail disorder, nonsyndromic congenital, 6 skos:exactMatch OMIM:107000 semapv:UnspecifiedMatching +GARD:15041 Spermatogenic failure 2 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:15041 Spermatogenic failure 2 skos:exactMatch OMIM:108420 semapv:UnspecifiedMatching +GARD:15042 Leukemia, chronic lymphocytic, susceptibility to, 2 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +GARD:15042 Leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch OMIM:109543 semapv:UnspecifiedMatching +GARD:15043 Biliary cirrhosis, primary, 1 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +GARD:15043 Biliary cirrhosis, primary, 1 skos:exactMatch OMIM:109720 semapv:UnspecifiedMatching +GARD:15044 Bifid nose, autosomal dominant skos:broadMatch Orphanet:2695 semapv:UnspecifiedMatching +GARD:15044 Bifid nose, autosomal dominant skos:exactMatch OMIM:109740 semapv:UnspecifiedMatching +GARD:15045 Breasts and/or nipples, aplasia or hypoplasia of, 1 skos:broadMatch Orphanet:180188 semapv:UnspecifiedMatching +GARD:15045 Breasts and/or nipples, aplasia or hypoplasia of, 1 skos:exactMatch OMIM:113700 semapv:UnspecifiedMatching +GARD:15046 Cataract 7 skos:broadMatch Orphanet:98989 semapv:UnspecifiedMatching +GARD:15046 Cataract 7 skos:exactMatch OMIM:115660 semapv:UnspecifiedMatching +GARD:15047 Cataract 1, multiple types skos:broadMatch Orphanet:1377 semapv:UnspecifiedMatching +GARD:15047 Cataract 1, multiple types skos:exactMatch OMIM:116200 semapv:UnspecifiedMatching +GARD:15048 Sotos syndrome skos:broadMatch Orphanet:821 semapv:UnspecifiedMatching +GARD:15048 Sotos syndrome skos:exactMatch OMIM:117550 semapv:UnspecifiedMatching +GARD:15049 Klippel-feil syndrome 1, autosomal dominant skos:broadMatch Orphanet:2345 semapv:UnspecifiedMatching +GARD:15049 Klippel-feil syndrome 1, autosomal dominant skos:exactMatch OMIM:118100 semapv:UnspecifiedMatching +GARD:15050 Split-hand/foot malformation with long bone deficiency 1 skos:broadMatch Orphanet:3329 semapv:UnspecifiedMatching +GARD:15050 Split-hand/foot malformation with long bone deficiency 1 skos:exactMatch OMIM:119100 semapv:UnspecifiedMatching +GARD:15051 Familial cold autoinflammatory syndrome 1 skos:broadMatch Orphanet:47045 semapv:UnspecifiedMatching +GARD:15051 Familial cold autoinflammatory syndrome 1 skos:exactMatch OMIM:120100 semapv:UnspecifiedMatching +GARD:15052 Lynch syndrome i skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +GARD:15052 Lynch syndrome i skos:exactMatch OMIM:120435 semapv:UnspecifiedMatching +GARD:15053 Branchiootic syndrome 2 skos:broadMatch Orphanet:52429 semapv:UnspecifiedMatching +GARD:15053 Branchiootic syndrome 2 skos:exactMatch OMIM:120502 semapv:UnspecifiedMatching +GARD:15054 Seizures, benign familial neonatal, 2 skos:broadMatch Orphanet:1949 semapv:UnspecifiedMatching +GARD:15054 Seizures, benign familial neonatal, 2 skos:exactMatch OMIM:121201 semapv:UnspecifiedMatching +GARD:15055 Cutis laxa, autosomal dominant 1 skos:broadMatch Orphanet:90348 semapv:UnspecifiedMatching +GARD:15055 Cutis laxa, autosomal dominant 1 skos:exactMatch OMIM:123700 semapv:UnspecifiedMatching +GARD:15056 Mitochondrial complex iii deficiency, nuclear type 1 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:15056 Mitochondrial complex iii deficiency, nuclear type 1 skos:exactMatch OMIM:124000 semapv:UnspecifiedMatching +GARD:15057 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:broadMatch Orphanet:1215 semapv:UnspecifiedMatching +GARD:15057 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch OMIM:125250 semapv:UnspecifiedMatching +GARD:15058 Diabetes insipidus, nephrogenic, 2, autosomal skos:broadMatch Orphanet:223 semapv:UnspecifiedMatching +GARD:15058 Diabetes insipidus, nephrogenic, 2, autosomal skos:exactMatch OMIM:125800 semapv:UnspecifiedMatching +GARD:15059 Digitotalar dysmorphism skos:broadMatch Orphanet:1146 semapv:UnspecifiedMatching +GARD:15059 Digitotalar dysmorphism skos:exactMatch OMIM:126050 semapv:UnspecifiedMatching +GARD:15060 Basal laminar drusen skos:broadMatch Orphanet:75376 semapv:UnspecifiedMatching +GARD:15060 Basal laminar drusen skos:exactMatch OMIM:126700 semapv:UnspecifiedMatching +GARD:15061 Dystonia 1, torsion, autosomal dominant skos:broadMatch Orphanet:256 semapv:UnspecifiedMatching +GARD:15061 Dystonia 1, torsion, autosomal dominant skos:exactMatch OMIM:128100 semapv:UnspecifiedMatching +GARD:15062 Ectopia lentis 1, isolated, autosomal dominant skos:broadMatch Orphanet:1885 semapv:UnspecifiedMatching +GARD:15062 Ectopia lentis 1, isolated, autosomal dominant skos:exactMatch OMIM:129600 semapv:UnspecifiedMatching +GARD:15063 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 skos:broadMatch Orphanet:1896 semapv:UnspecifiedMatching +GARD:15063 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 skos:exactMatch OMIM:129900 semapv:UnspecifiedMatching +GARD:15064 Elliptocytosis 2 skos:broadMatch Orphanet:288 semapv:UnspecifiedMatching +GARD:15064 Elliptocytosis 2 skos:exactMatch OMIM:130600 semapv:UnspecifiedMatching +GARD:15065 Photoparoxysmal response 1 skos:broadMatch Orphanet:166409 semapv:UnspecifiedMatching +GARD:15065 Photoparoxysmal response 1 skos:exactMatch OMIM:132100 semapv:UnspecifiedMatching +GARD:15066 Erythroleukemia, familial, susceptibility to skos:broadMatch Orphanet:318 semapv:UnspecifiedMatching +GARD:15066 Erythroleukemia, familial, susceptibility to skos:exactMatch OMIM:133180 semapv:UnspecifiedMatching +GARD:15067 Cockayne syndrome b skos:broadMatch Orphanet:90321 semapv:UnspecifiedMatching +GARD:15067 Cockayne syndrome b skos:broadMatch Orphanet:90322 semapv:UnspecifiedMatching +GARD:15067 Cockayne syndrome b skos:broadMatch Orphanet:90324 semapv:UnspecifiedMatching +GARD:15067 Cockayne syndrome b skos:exactMatch OMIM:133540 semapv:UnspecifiedMatching +GARD:15068 Exudative vitreoretinopathy 1 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +GARD:15068 Exudative vitreoretinopathy 1 skos:exactMatch OMIM:133780 semapv:UnspecifiedMatching +GARD:15069 Familial mediterranean fever, autosomal dominant skos:broadMatch Orphanet:342 semapv:UnspecifiedMatching +GARD:15069 Familial mediterranean fever, autosomal dominant skos:exactMatch OMIM:134610 semapv:UnspecifiedMatching +GARD:15070 Desmoid disease, hereditary skos:broadMatch Orphanet:873 semapv:UnspecifiedMatching +GARD:15070 Desmoid disease, hereditary skos:exactMatch OMIM:135290 semapv:UnspecifiedMatching +GARD:15071 Zimmermann-laband syndrome 1 skos:broadMatch Orphanet:3473 semapv:UnspecifiedMatching +GARD:15071 Zimmermann-laband syndrome 1 skos:exactMatch OMIM:135500 semapv:UnspecifiedMatching +GARD:15072 Coffin-siris syndrome 1 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:15072 Coffin-siris syndrome 1 skos:exactMatch OMIM:135900 semapv:UnspecifiedMatching +GARD:15076 Hirschsprung disease, susceptibility to, 1 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15076 Hirschsprung disease, susceptibility to, 1 skos:exactMatch OMIM:142623 semapv:UnspecifiedMatching +GARD:15077 Hyperlipidemia, familial combined, 3 skos:broadMatch Orphanet:309015 semapv:UnspecifiedMatching +GARD:15077 Hyperlipidemia, familial combined, 3 skos:exactMatch OMIM:144250 semapv:UnspecifiedMatching +GARD:15078 Hypotrichosis 4 skos:broadMatch Orphanet:444 semapv:UnspecifiedMatching +GARD:15078 Hypotrichosis 4 skos:exactMatch OMIM:146550 semapv:UnspecifiedMatching +GARD:15079 Cholestasis, intrahepatic, of pregnancy, 1 skos:broadMatch Orphanet:69665 semapv:UnspecifiedMatching +GARD:15079 Cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch OMIM:147480 semapv:UnspecifiedMatching +GARD:15080 Kaposi sarcoma, susceptibility to skos:broadMatch Orphanet:33276 semapv:UnspecifiedMatching +GARD:15080 Kaposi sarcoma, susceptibility to skos:exactMatch OMIM:148000 semapv:UnspecifiedMatching +GARD:15081 Palmoplantar keratoderma, punctate type ia skos:broadMatch Orphanet:79501 semapv:UnspecifiedMatching +GARD:15081 Palmoplantar keratoderma, punctate type ia skos:exactMatch OMIM:148600 semapv:UnspecifiedMatching +GARD:15082 Bernard-soulier syndrome, type a2, autosomal dominant skos:broadMatch Orphanet:274 semapv:UnspecifiedMatching +GARD:15082 Bernard-soulier syndrome, type a2, autosomal dominant skos:exactMatch OMIM:153670 semapv:UnspecifiedMatching +GARD:15083 46,xy sex reversal 4 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +GARD:15083 46,xy sex reversal 4 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +GARD:15083 46,xy sex reversal 4 skos:exactMatch OMIM:154230 semapv:UnspecifiedMatching +GARD:15086 Mirror movements 1 skos:broadMatch Orphanet:238722 semapv:UnspecifiedMatching +GARD:15086 Mirror movements 1 skos:exactMatch OMIM:157600 semapv:UnspecifiedMatching +GARD:15087 Facioscapulohumeral muscular dystrophy 1 skos:broadMatch Orphanet:269 semapv:UnspecifiedMatching +GARD:15087 Facioscapulohumeral muscular dystrophy 1 skos:exactMatch OMIM:158900 semapv:UnspecifiedMatching +GARD:15088 Facioscapulohumeral muscular dystrophy 2, digenic skos:broadMatch Orphanet:269 semapv:UnspecifiedMatching +GARD:15088 Facioscapulohumeral muscular dystrophy 2, digenic skos:exactMatch OMIM:158901 semapv:UnspecifiedMatching +GARD:15089 Muscular dystrophy, pseudohypertrophic, with internalized capillaries skos:broadMatch Orphanet:98895 semapv:UnspecifiedMatching +GARD:15089 Muscular dystrophy, pseudohypertrophic, with internalized capillaries skos:exactMatch OMIM:159050 semapv:UnspecifiedMatching +GARD:15090 Carney complex, type 1 skos:broadMatch Orphanet:1359 semapv:UnspecifiedMatching +GARD:15090 Carney complex, type 1 skos:exactMatch OMIM:160980 semapv:UnspecifiedMatching +GARD:15091 Narcolepsy 1 skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +GARD:15091 Narcolepsy 1 skos:exactMatch OMIM:161400 semapv:UnspecifiedMatching +GARD:15092 Nasopharyngeal carcinoma, susceptibility to, 2 skos:broadMatch Orphanet:150 semapv:UnspecifiedMatching +GARD:15092 Nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch OMIM:161550 semapv:UnspecifiedMatching +GARD:15093 Candidiasis, familial, 6 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:15093 Candidiasis, familial, 6 skos:exactMatch OMIM:613956 semapv:UnspecifiedMatching +GARD:15094 Neurofibromatosis, type iii, mixed central and peripheral skos:broadMatch Orphanet:93921 semapv:UnspecifiedMatching +GARD:15094 Neurofibromatosis, type iii, mixed central and peripheral skos:exactMatch OMIM:162260 semapv:UnspecifiedMatching +GARD:15095 Neuropathy, hereditary sensory and autonomic, type ia skos:broadMatch Orphanet:36386 semapv:UnspecifiedMatching +GARD:15095 Neuropathy, hereditary sensory and autonomic, type ia skos:exactMatch OMIM:162400 semapv:UnspecifiedMatching +GARD:15096 Night blindness, congenital stationary, autosomal dominant 2 skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15096 Night blindness, congenital stationary, autosomal dominant 2 skos:exactMatch OMIM:163500 semapv:UnspecifiedMatching +GARD:15097 Oculopharyngodistal myopathy 1 skos:broadMatch Orphanet:98897 semapv:UnspecifiedMatching +GARD:15097 Oculopharyngodistal myopathy 1 skos:exactMatch OMIM:164310 semapv:UnspecifiedMatching +GARD:15098 Optic atrophy with demyelinating disease of cns skos:broadMatch Orphanet:99718 semapv:UnspecifiedMatching +GARD:15098 Optic atrophy with demyelinating disease of cns skos:exactMatch OMIM:165200 semapv:UnspecifiedMatching +GARD:15099 Optic atrophy 1 skos:broadMatch Orphanet:98673 semapv:UnspecifiedMatching +GARD:15099 Optic atrophy 1 skos:exactMatch OMIM:165500 semapv:UnspecifiedMatching +GARD:15100 Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures skos:broadMatch Orphanet:216796 semapv:UnspecifiedMatching +GARD:15100 Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures skos:exactMatch OMIM:166230 semapv:UnspecifiedMatching +GARD:15101 Hypertrophic osteoarthropathy, primary, autosomal dominant skos:broadMatch Orphanet:2796 semapv:UnspecifiedMatching +GARD:15101 Hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch OMIM:167100 semapv:UnspecifiedMatching +GARD:15102 Pachyonychia congenita 1 skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +GARD:15102 Pachyonychia congenita 1 skos:exactMatch OMIM:167200 semapv:UnspecifiedMatching +GARD:15103 Pachyonychia congenita 2 skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +GARD:15103 Pachyonychia congenita 2 skos:exactMatch OMIM:167210 semapv:UnspecifiedMatching +GARD:15104 Pancreas, dorsal, agenesis of skos:broadMatch Orphanet:2805 semapv:UnspecifiedMatching +GARD:15104 Pancreas, dorsal, agenesis of skos:exactMatch OMIM:167755 semapv:UnspecifiedMatching +GARD:15105 Pheochromocytoma skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:15105 Pheochromocytoma skos:exactMatch OMIM:171300 semapv:UnspecifiedMatching +GARD:15106 Gist-plus syndrome skos:broadMatch Orphanet:44890 semapv:UnspecifiedMatching +GARD:15106 Gist-plus syndrome skos:exactMatch OMIM:175510 semapv:UnspecifiedMatching +GARD:15107 Brain small vessel disease 1 with or without ocular anomalies skos:broadMatch Orphanet:99810 semapv:UnspecifiedMatching +GARD:15107 Brain small vessel disease 1 with or without ocular anomalies skos:exactMatch OMIM:175780 semapv:UnspecifiedMatching +GARD:15108 Porokeratosis 1, multiple types skos:broadMatch Orphanet:735 semapv:UnspecifiedMatching +GARD:15108 Porokeratosis 1, multiple types skos:exactMatch OMIM:175800 semapv:UnspecifiedMatching +GARD:15109 Retinal aplasia skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:15109 Retinal aplasia skos:exactMatch OMIM:179900 semapv:UnspecifiedMatching +GARD:15110 Retinitis pigmentosa 10 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15110 Retinitis pigmentosa 10 skos:exactMatch OMIM:180105 semapv:UnspecifiedMatching +GARD:15111 Retinopathy, pericentral pigmentary, dominant skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15111 Retinopathy, pericentral pigmentary, dominant skos:exactMatch OMIM:180210 semapv:UnspecifiedMatching +GARD:15112 Schistosoma mansoni infection, susceptibility/resistance to skos:broadMatch Orphanet:1247 semapv:UnspecifiedMatching +GARD:15112 Schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch OMIM:181460 semapv:UnspecifiedMatching +GARD:15113 Spinal arachnoiditis skos:broadMatch Orphanet:137817 semapv:UnspecifiedMatching +GARD:15113 Spinal arachnoiditis skos:exactMatch OMIM:182950 semapv:UnspecifiedMatching +GARD:15114 Spondyloepiphyseal dysplasia tarda, autosomal dominant skos:broadMatch Orphanet:93284 semapv:UnspecifiedMatching +GARD:15114 Spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch OMIM:184100 semapv:UnspecifiedMatching +GARD:15115 Multiple synostoses syndrome 1 skos:broadMatch Orphanet:3237 semapv:UnspecifiedMatching +GARD:15115 Multiple synostoses syndrome 1 skos:exactMatch OMIM:186500 semapv:UnspecifiedMatching +GARD:15116 Thoracolaryngopelvic dysplasia skos:broadMatch Orphanet:3317 semapv:UnspecifiedMatching +GARD:15116 Thoracolaryngopelvic dysplasia skos:exactMatch OMIM:187760 semapv:UnspecifiedMatching +GARD:15117 Bleeding disorder, platelet-type, 17 skos:broadMatch Orphanet:721 semapv:UnspecifiedMatching +GARD:15117 Bleeding disorder, platelet-type, 17 skos:exactMatch OMIM:187900 semapv:UnspecifiedMatching +GARD:15118 Digeorge syndrome skos:broadMatch Orphanet:567 semapv:UnspecifiedMatching +GARD:15118 Digeorge syndrome skos:exactMatch OMIM:188400 semapv:UnspecifiedMatching +GARD:15119 Thyrotoxic periodic paralysis, susceptibility to, 1 skos:broadMatch Orphanet:79102 semapv:UnspecifiedMatching +GARD:15119 Thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch OMIM:188580 semapv:UnspecifiedMatching +GARD:1512 Hereditary continuous muscle fiber activity skos:exactMatch Orphanet:972 semapv:UnspecifiedMatching +GARD:1512 Hereditary continuous muscle fiber activity skos:narrowMatch OMIM:160120 semapv:UnspecifiedMatching +GARD:15120 Blount disease, infantile skos:broadMatch Orphanet:2768 semapv:UnspecifiedMatching +GARD:15120 Blount disease, infantile skos:exactMatch OMIM:188700 semapv:UnspecifiedMatching +GARD:15121 Tuberous sclerosis 1 skos:broadMatch Orphanet:805 semapv:UnspecifiedMatching +GARD:15121 Tuberous sclerosis 1 skos:exactMatch OMIM:191100 semapv:UnspecifiedMatching +GARD:15122 Uncombable hair syndrome 1 skos:broadMatch Orphanet:1410 semapv:UnspecifiedMatching +GARD:15122 Uncombable hair syndrome 1 skos:exactMatch OMIM:191480 semapv:UnspecifiedMatching +GARD:15123 Velocardiofacial syndrome skos:broadMatch Orphanet:567 semapv:UnspecifiedMatching +GARD:15123 Velocardiofacial syndrome skos:exactMatch OMIM:192430 semapv:UnspecifiedMatching +GARD:15124 Wilms tumor 1 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +GARD:15124 Wilms tumor 1 skos:exactMatch OMIM:194070 semapv:UnspecifiedMatching +GARD:15125 Wilms tumor 3 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +GARD:15125 Wilms tumor 3 skos:exactMatch OMIM:194090 semapv:UnspecifiedMatching +GARD:15126 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema skos:broadMatch Orphanet:3202 semapv:UnspecifiedMatching +GARD:15126 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch OMIM:194380 semapv:UnspecifiedMatching +GARD:15127 Abetalipoproteinemia skos:broadMatch Orphanet:14 semapv:UnspecifiedMatching +GARD:15127 Abetalipoproteinemia skos:exactMatch OMIM:200100 semapv:UnspecifiedMatching +GARD:15128 Carpenter syndrome 1 skos:broadMatch Orphanet:65759 semapv:UnspecifiedMatching +GARD:15128 Carpenter syndrome 1 skos:exactMatch OMIM:201000 semapv:UnspecifiedMatching +GARD:15129 Neuropathy, hereditary sensory and autonomic, type iia skos:broadMatch Orphanet:970 semapv:UnspecifiedMatching +GARD:15129 Neuropathy, hereditary sensory and autonomic, type iia skos:exactMatch OMIM:201300 semapv:UnspecifiedMatching +GARD:1513 Continuous spikes and waves during sleep skos:exactMatch Orphanet:725 semapv:UnspecifiedMatching +GARD:1513 Continuous spikes and waves during sleep skos:narrowMatch OMIM:245570 semapv:UnspecifiedMatching +GARD:15130 Acrorenal syndrome, autosomal recessive skos:broadMatch Orphanet:971 semapv:UnspecifiedMatching +GARD:15130 Acrorenal syndrome, autosomal recessive skos:exactMatch OMIM:201310 semapv:UnspecifiedMatching +GARD:15131 Adrenal hypoplasia, cytomegalic type skos:broadMatch Orphanet:95702 semapv:UnspecifiedMatching +GARD:15131 Adrenal hypoplasia, cytomegalic type skos:exactMatch OMIM:202155 semapv:UnspecifiedMatching +GARD:15132 Adrenocortical carcinoma, hereditary skos:broadMatch Orphanet:1501 semapv:UnspecifiedMatching +GARD:15132 Adrenocortical carcinoma, hereditary skos:exactMatch OMIM:202300 semapv:UnspecifiedMatching +GARD:15133 Adrenocortical unresponsiveness to acth with postreceptor defect skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +GARD:15133 Adrenocortical unresponsiveness to acth with postreceptor defect skos:exactMatch OMIM:202355 semapv:UnspecifiedMatching +GARD:15134 Peroxisome biogenesis disorder 2b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15134 Peroxisome biogenesis disorder 2b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15134 Peroxisome biogenesis disorder 2b skos:exactMatch OMIM:202370 semapv:UnspecifiedMatching +GARD:15135 Alopecia universalis congenita skos:broadMatch Orphanet:701 semapv:UnspecifiedMatching +GARD:15135 Alopecia universalis congenita skos:exactMatch OMIM:203655 semapv:UnspecifiedMatching +GARD:15136 Amelogenesis imperfecta, type ic skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +GARD:15136 Amelogenesis imperfecta, type ic skos:exactMatch OMIM:204650 semapv:UnspecifiedMatching +GARD:15137 Amyotrophic lateral sclerosis 2, juvenile skos:broadMatch Orphanet:300605 semapv:UnspecifiedMatching +GARD:15137 Amyotrophic lateral sclerosis 2, juvenile skos:exactMatch OMIM:205100 semapv:UnspecifiedMatching +GARD:15138 Amyotrophic lateral sclerosis with polyglucosan bodies skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15138 Amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch OMIM:205250 semapv:UnspecifiedMatching +GARD:15139 Arthrogryposis, renal dysfunction, and cholestasis 1 skos:broadMatch Orphanet:2697 semapv:UnspecifiedMatching +GARD:15139 Arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch OMIM:208085 semapv:UnspecifiedMatching +GARD:15140 Short-rib thoracic dysplasia 1 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:15140 Short-rib thoracic dysplasia 1 with or without polydactyly skos:exactMatch OMIM:208500 semapv:UnspecifiedMatching +GARD:15141 Ataxia-telangiectasia with generalized skin pigmentation and early death skos:broadMatch Orphanet:100 semapv:UnspecifiedMatching +GARD:15141 Ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch OMIM:208910 semapv:UnspecifiedMatching +GARD:15142 Bifid nose, autosomal recessive skos:broadMatch Orphanet:2695 semapv:UnspecifiedMatching +GARD:15142 Bifid nose, autosomal recessive skos:exactMatch OMIM:210400 semapv:UnspecifiedMatching +GARD:15143 Seckel syndrome 1 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +GARD:15143 Seckel syndrome 1 skos:exactMatch OMIM:210600 semapv:UnspecifiedMatching +GARD:15144 Microcephalic osteodysplastic primordial dwarfism, type i skos:broadMatch Orphanet:2636 semapv:UnspecifiedMatching +GARD:15144 Microcephalic osteodysplastic primordial dwarfism, type i skos:exactMatch OMIM:210710 semapv:UnspecifiedMatching +GARD:15145 Microcephalic osteodysplastic primordial dwarfism, type iii skos:broadMatch Orphanet:2636 semapv:UnspecifiedMatching +GARD:15145 Microcephalic osteodysplastic primordial dwarfism, type iii skos:exactMatch OMIM:210730 semapv:UnspecifiedMatching +GARD:15146 Tumoral calcinosis, hyperphosphatemic, familial, 1 skos:broadMatch Orphanet:306661 semapv:UnspecifiedMatching +GARD:15146 Tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch OMIM:211900 semapv:UnspecifiedMatching +GARD:15148 Cardiac lipidosis, familial skos:broadMatch Orphanet:137675 semapv:UnspecifiedMatching +GARD:15148 Cardiac lipidosis, familial skos:exactMatch OMIM:212080 semapv:UnspecifiedMatching +GARD:15149 Peroxisome biogenesis disorder 2a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15149 Peroxisome biogenesis disorder 2a (zellweger) skos:exactMatch OMIM:214110 semapv:UnspecifiedMatching +GARD:1515 Contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch Orphanet:1484 semapv:UnspecifiedMatching +GARD:1515 Contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:narrowMatch OMIM:301815 semapv:UnspecifiedMatching +GARD:15150 Cerebrooculofacioskeletal syndrome 1 skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +GARD:15150 Cerebrooculofacioskeletal syndrome 1 skos:exactMatch OMIM:214150 semapv:UnspecifiedMatching +GARD:15151 Klippel-feil syndrome 2, autosomal recessive skos:broadMatch Orphanet:2345 semapv:UnspecifiedMatching +GARD:15151 Klippel-feil syndrome 2, autosomal recessive skos:exactMatch OMIM:214300 semapv:UnspecifiedMatching +GARD:15152 Chorea, benign familial skos:broadMatch Orphanet:1429 semapv:UnspecifiedMatching +GARD:15152 Chorea, benign familial skos:exactMatch OMIM:215450 semapv:UnspecifiedMatching +GARD:15153 Coach syndrome 1 skos:broadMatch Orphanet:1454 semapv:UnspecifiedMatching +GARD:15153 Coach syndrome 1 skos:exactMatch OMIM:216360 semapv:UnspecifiedMatching +GARD:15154 Cockayne syndrome a skos:broadMatch Orphanet:90321 semapv:UnspecifiedMatching +GARD:15154 Cockayne syndrome a skos:broadMatch Orphanet:90322 semapv:UnspecifiedMatching +GARD:15154 Cockayne syndrome a skos:broadMatch Orphanet:90324 semapv:UnspecifiedMatching +GARD:15154 Cockayne syndrome a skos:exactMatch OMIM:216400 semapv:UnspecifiedMatching +GARD:15155 Complement component c1r/c1s deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +GARD:15155 Complement component c1r/c1s deficiency skos:exactMatch OMIM:216950 semapv:UnspecifiedMatching +GARD:15156 Craniodiaphyseal dysplasia skos:broadMatch Orphanet:1513 semapv:UnspecifiedMatching +GARD:15156 Craniodiaphyseal dysplasia skos:exactMatch OMIM:218300 semapv:UnspecifiedMatching +GARD:15157 Cutis laxa, autosomal recessive, type ia skos:broadMatch Orphanet:90349 semapv:UnspecifiedMatching +GARD:15157 Cutis laxa, autosomal recessive, type ia skos:exactMatch OMIM:219100 semapv:UnspecifiedMatching +GARD:15158 Mitochondrial complex iv deficiency, nuclear type 1 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:15158 Mitochondrial complex iv deficiency, nuclear type 1 skos:exactMatch OMIM:220110 semapv:UnspecifiedMatching +GARD:15159 Mitochondrial complex iv deficiency, nuclear type 5 skos:broadMatch Orphanet:70472 semapv:UnspecifiedMatching +GARD:15159 Mitochondrial complex iv deficiency, nuclear type 5 skos:exactMatch OMIM:220111 semapv:UnspecifiedMatching +GARD:1516 Restrictive dermopathy skos:exactMatch Orphanet:1662 semapv:UnspecifiedMatching +GARD:1516 Restrictive dermopathy skos:narrowMatch OMIM:275210 semapv:UnspecifiedMatching +GARD:15160 Ritscher-schinzel syndrome 1 skos:broadMatch Orphanet:7 semapv:UnspecifiedMatching +GARD:15160 Ritscher-schinzel syndrome 1 skos:exactMatch OMIM:220210 semapv:UnspecifiedMatching +GARD:15161 Diaphragmatic hernia 2 skos:broadMatch Orphanet:2140 semapv:UnspecifiedMatching +GARD:15161 Diaphragmatic hernia 2 skos:exactMatch OMIM:222400 semapv:UnspecifiedMatching +GARD:15162 Meier-gorlin syndrome 1 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +GARD:15162 Meier-gorlin syndrome 1 skos:exactMatch OMIM:224690 semapv:UnspecifiedMatching +GARD:15163 Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive skos:broadMatch Orphanet:248 semapv:UnspecifiedMatching +GARD:15163 Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:224900 semapv:UnspecifiedMatching +GARD:15164 Ectopia lentis et pupillae skos:broadMatch Orphanet:1885 semapv:UnspecifiedMatching +GARD:15164 Ectopia lentis et pupillae skos:exactMatch OMIM:225200 semapv:UnspecifiedMatching +GARD:15165 Hypothyroidism, congenital, nongoitrous, 5 skos:broadMatch Orphanet:95712 semapv:UnspecifiedMatching +GARD:15165 Hypothyroidism, congenital, nongoitrous, 5 skos:broadMatch Orphanet:95713 semapv:UnspecifiedMatching +GARD:15165 Hypothyroidism, congenital, nongoitrous, 5 skos:broadMatch Orphanet:95720 semapv:UnspecifiedMatching +GARD:15165 Hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch OMIM:225250 semapv:UnspecifiedMatching +GARD:15166 Split-hand/foot malformation 6 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +GARD:15166 Split-hand/foot malformation 6 skos:exactMatch OMIM:225300 semapv:UnspecifiedMatching +GARD:15167 Aicardi-goutieres syndrome 1 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:15167 Aicardi-goutieres syndrome 1 skos:exactMatch OMIM:225750 semapv:UnspecifiedMatching +GARD:15168 Fanconi anemia, complementation group c skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15168 Fanconi anemia, complementation group c skos:exactMatch OMIM:227645 semapv:UnspecifiedMatching +GARD:15169 Fanconi anemia, complementation group d2 skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15169 Fanconi anemia, complementation group d2 skos:exactMatch OMIM:227646 semapv:UnspecifiedMatching +GARD:15170 Fanconi anemia, complementation group a skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15170 Fanconi anemia, complementation group a skos:exactMatch OMIM:227650 semapv:UnspecifiedMatching +GARD:15171 Fascial dystrophy, congenital skos:broadMatch Orphanet:2833 semapv:UnspecifiedMatching +GARD:15171 Fascial dystrophy, congenital skos:exactMatch OMIM:228020 semapv:UnspecifiedMatching +GARD:15172 Geleophysic dysplasia 1 skos:broadMatch Orphanet:2623 semapv:UnspecifiedMatching +GARD:15172 Geleophysic dysplasia 1 skos:exactMatch OMIM:231050 semapv:UnspecifiedMatching +GARD:15173 Glycogen storage disease ic skos:broadMatch Orphanet:79259 semapv:UnspecifiedMatching +GARD:15173 Glycogen storage disease ic skos:exactMatch OMIM:232240 semapv:UnspecifiedMatching +GARD:15174 46,xy sex reversal 7 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +GARD:15174 46,xy sex reversal 7 skos:exactMatch OMIM:233420 semapv:UnspecifiedMatching +GARD:15175 Granulomatous disease, chronic, autosomal recessive, 4 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +GARD:15175 Granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch OMIM:233690 semapv:UnspecifiedMatching +GARD:15176 Granulomatous disease, chronic, autosomal recessive, 1 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +GARD:15176 Granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch OMIM:233700 semapv:UnspecifiedMatching +GARD:15177 Granulomatous disease, chronic, autosomal recessive, 2 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +GARD:15177 Granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch OMIM:233710 semapv:UnspecifiedMatching +GARD:15179 Hemolytic anemia with thermal sensitivity of red cells skos:broadMatch Orphanet:288 semapv:UnspecifiedMatching +GARD:15179 Hemolytic anemia with thermal sensitivity of red cells skos:exactMatch OMIM:235370 semapv:UnspecifiedMatching +GARD:1518 Benign familial neonatal-infantile seizures skos:exactMatch Orphanet:140927 semapv:UnspecifiedMatching +GARD:1518 Benign familial neonatal-infantile seizures skos:narrowMatch OMIM:607745 semapv:UnspecifiedMatching +GARD:15180 Hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:broadMatch Orphanet:99931 semapv:UnspecifiedMatching +GARD:15180 Hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:exactMatch OMIM:235500 semapv:UnspecifiedMatching +GARD:15181 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:broadMatch Orphanet:2136 semapv:UnspecifiedMatching +GARD:15181 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch OMIM:235510 semapv:UnspecifiedMatching +GARD:15182 Hydrolethalus syndrome 1 skos:broadMatch Orphanet:2189 semapv:UnspecifiedMatching +GARD:15182 Hydrolethalus syndrome 1 skos:exactMatch OMIM:236680 semapv:UnspecifiedMatching +GARD:15183 Hyperlysinemia due to defect in lysine transport into mitochondria skos:broadMatch Orphanet:2203 semapv:UnspecifiedMatching +GARD:15183 Hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch OMIM:238710 semapv:UnspecifiedMatching +GARD:15184 Immunodeficiency, common variable, 2 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:15184 Immunodeficiency, common variable, 2 skos:exactMatch OMIM:240500 semapv:UnspecifiedMatching +GARD:15185 Immunodeficiency 43 skos:broadMatch Orphanet:34592 semapv:UnspecifiedMatching +GARD:15185 Immunodeficiency 43 skos:exactMatch OMIM:241600 semapv:UnspecifiedMatching +GARD:15186 Hypouricemia, hypercalcinuria, and decreased bone density skos:broadMatch Orphanet:94088 semapv:UnspecifiedMatching +GARD:15186 Hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch OMIM:242050 semapv:UnspecifiedMatching +GARD:15187 Ichthyosis, congenital, autosomal recessive 2 skos:broadMatch Orphanet:281122 semapv:UnspecifiedMatching +GARD:15187 Ichthyosis, congenital, autosomal recessive 2 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +GARD:15187 Ichthyosis, congenital, autosomal recessive 2 skos:exactMatch OMIM:242100 semapv:UnspecifiedMatching +GARD:15188 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:broadMatch Orphanet:2268 semapv:UnspecifiedMatching +GARD:15188 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch OMIM:242860 semapv:UnspecifiedMatching +GARD:15189 Baraitser-winter syndrome 1 skos:broadMatch Orphanet:2995 semapv:UnspecifiedMatching +GARD:15189 Baraitser-winter syndrome 1 skos:exactMatch OMIM:243310 semapv:UnspecifiedMatching +GARD:1519 Benign familial neonatal epilepsy skos:exactMatch Orphanet:1949 semapv:UnspecifiedMatching +GARD:1519 Benign familial neonatal epilepsy skos:narrowMatch OMIM:121200 semapv:UnspecifiedMatching +GARD:1519 Benign familial neonatal epilepsy skos:narrowMatch OMIM:121201 semapv:UnspecifiedMatching +GARD:1519 Benign familial neonatal epilepsy skos:narrowMatch OMIM:269720 semapv:UnspecifiedMatching +GARD:1519 Benign familial neonatal epilepsy skos:narrowMatch OMIM:608217 semapv:UnspecifiedMatching +GARD:15190 Intrinsic factor and r binder, combined congenital deficiency of skos:broadMatch Orphanet:332 semapv:UnspecifiedMatching +GARD:15190 Intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch OMIM:243320 semapv:UnspecifiedMatching +GARD:15191 Kuru, susceptibility to skos:broadMatch Orphanet:454745 semapv:UnspecifiedMatching +GARD:15191 Kuru, susceptibility to skos:exactMatch OMIM:245300 semapv:UnspecifiedMatching +GARD:15192 Leprosy, susceptibility to, 3 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +GARD:15192 Leprosy, susceptibility to, 3 skos:exactMatch OMIM:246300 semapv:UnspecifiedMatching +GARD:15193 Split-hand/foot malformation 3 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +GARD:15193 Split-hand/foot malformation 3 skos:exactMatch OMIM:246560 semapv:UnspecifiedMatching +GARD:15194 Lymphokine deficiency skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:15194 Lymphokine deficiency skos:exactMatch OMIM:247650 semapv:UnspecifiedMatching +GARD:15195 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:broadMatch Orphanet:2241 semapv:UnspecifiedMatching +GARD:15195 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch OMIM:249210 semapv:UnspecifiedMatching +GARD:15196 Methemoglobinemia and ambiguous genitalia skos:broadMatch Orphanet:621 semapv:UnspecifiedMatching +GARD:15196 Methemoglobinemia and ambiguous genitalia skos:exactMatch OMIM:250790 semapv:UnspecifiedMatching +GARD:15197 Methemoglobinemia due to deficiency of methemoglobin reductase skos:broadMatch Orphanet:621 semapv:UnspecifiedMatching +GARD:15197 Methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch OMIM:250800 semapv:UnspecifiedMatching +GARD:15198 Microcephaly 1, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15198 Microcephaly 1, primary, autosomal recessive skos:exactMatch OMIM:251200 semapv:UnspecifiedMatching +GARD:15199 Galloway-mowat syndrome 1 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:15199 Galloway-mowat syndrome 1 skos:exactMatch OMIM:251300 semapv:UnspecifiedMatching +GARD:15200 Microphthalmia, isolated, with coloboma 4 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:15200 Microphthalmia, isolated, with coloboma 4 skos:exactMatch OMIM:251505 semapv:UnspecifiedMatching +GARD:15201 Mitochondrial complex i deficiency, nuclear type 1 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:15201 Mitochondrial complex i deficiency, nuclear type 1 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:15201 Mitochondrial complex i deficiency, nuclear type 1 skos:exactMatch OMIM:252010 semapv:UnspecifiedMatching +GARD:15202 Mitochondrial complex ii deficiency, nuclear type 1 skos:broadMatch Orphanet:3208 semapv:UnspecifiedMatching +GARD:15202 Mitochondrial complex ii deficiency, nuclear type 1 skos:exactMatch OMIM:252011 semapv:UnspecifiedMatching +GARD:15203 Monocyte chemotactic disorder skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:15203 Monocyte chemotactic disorder skos:exactMatch OMIM:252250 semapv:UnspecifiedMatching +GARD:15204 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +GARD:15204 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15204 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 skos:exactMatch OMIM:253280 semapv:UnspecifiedMatching +GARD:15205 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +GARD:15205 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15205 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 skos:exactMatch OMIM:253800 semapv:UnspecifiedMatching +GARD:15206 Myasthenic syndrome, congenital, 10 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:15206 Myasthenic syndrome, congenital, 10 skos:exactMatch OMIM:254300 semapv:UnspecifiedMatching +GARD:15207 Myopathy, myosin storage, autosomal recessive skos:broadMatch Orphanet:53698 semapv:UnspecifiedMatching +GARD:15207 Myopathy, myosin storage, autosomal recessive skos:exactMatch OMIM:255160 semapv:UnspecifiedMatching +GARD:15208 Myopathy, centronuclear, 2 skos:broadMatch Orphanet:169186 semapv:UnspecifiedMatching +GARD:15208 Myopathy, centronuclear, 2 skos:exactMatch OMIM:255200 semapv:UnspecifiedMatching +GARD:15209 Nemaline myopathy 2 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +GARD:15209 Nemaline myopathy 2 skos:broadMatch Orphanet:171433 semapv:UnspecifiedMatching +GARD:15209 Nemaline myopathy 2 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +GARD:15209 Nemaline myopathy 2 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +GARD:15209 Nemaline myopathy 2 skos:exactMatch OMIM:256030 semapv:UnspecifiedMatching +GARD:1521 Menkes disease skos:exactMatch Orphanet:565 semapv:UnspecifiedMatching +GARD:1521 Menkes disease skos:narrowMatch OMIM:309400 semapv:UnspecifiedMatching +GARD:15210 Nephrotic syndrome, type 4 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15210 Nephrotic syndrome, type 4 skos:exactMatch OMIM:256370 semapv:UnspecifiedMatching +GARD:15211 Neuroblastoma, susceptibility to, 1 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +GARD:15211 Neuroblastoma, susceptibility to, 1 skos:exactMatch OMIM:256700 semapv:UnspecifiedMatching +GARD:15212 Night blindness, congenital stationary, type 1b skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15212 Night blindness, congenital stationary, type 1b skos:exactMatch OMIM:257270 semapv:UnspecifiedMatching +GARD:15213 Oculodentodigital dysplasia, autosomal recessive skos:broadMatch Orphanet:2710 semapv:UnspecifiedMatching +GARD:15213 Oculodentodigital dysplasia, autosomal recessive skos:exactMatch OMIM:257850 semapv:UnspecifiedMatching +GARD:15214 Spermatogenic failure 1 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:15214 Spermatogenic failure 1 skos:exactMatch OMIM:258150 semapv:UnspecifiedMatching +GARD:15215 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 skos:broadMatch Orphanet:254886 semapv:UnspecifiedMatching +GARD:15215 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 skos:exactMatch OMIM:258450 semapv:UnspecifiedMatching +GARD:15216 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:broadMatch Orphanet:2796 semapv:UnspecifiedMatching +GARD:15216 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch OMIM:259100 semapv:UnspecifiedMatching +GARD:15217 Blount disease, adolescent skos:broadMatch Orphanet:2768 semapv:UnspecifiedMatching +GARD:15217 Blount disease, adolescent skos:exactMatch OMIM:259200 semapv:UnspecifiedMatching +GARD:15218 Osteoporosis, juvenile skos:broadMatch Orphanet:85193 semapv:UnspecifiedMatching +GARD:15218 Osteoporosis, juvenile skos:exactMatch OMIM:259750 semapv:UnspecifiedMatching +GARD:15219 Pachyonychia congenita, autosomal recessive skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +GARD:15219 Pachyonychia congenita, autosomal recessive skos:exactMatch OMIM:260130 semapv:UnspecifiedMatching +GARD:1522 Familial benign copper deficiency skos:exactMatch Orphanet:1551 semapv:UnspecifiedMatching +GARD:1522 Familial benign copper deficiency skos:narrowMatch OMIM:121270 semapv:UnspecifiedMatching +GARD:15220 Pancreatic agenesis 1 skos:broadMatch Orphanet:2805 semapv:UnspecifiedMatching +GARD:15220 Pancreatic agenesis 1 skos:exactMatch OMIM:260370 semapv:UnspecifiedMatching +GARD:15221 Shwachman-diamond syndrome 1 skos:broadMatch Orphanet:811 semapv:UnspecifiedMatching +GARD:15221 Shwachman-diamond syndrome 1 skos:exactMatch OMIM:260400 semapv:UnspecifiedMatching +GARD:15222 Pituitary hormone deficiency, combined, 2 skos:broadMatch Orphanet:90695 semapv:UnspecifiedMatching +GARD:15222 Pituitary hormone deficiency, combined, 2 skos:broadMatch Orphanet:95494 semapv:UnspecifiedMatching +GARD:15222 Pituitary hormone deficiency, combined, 2 skos:exactMatch OMIM:262600 semapv:UnspecifiedMatching +GARD:15223 Gillessen-kaesbach-nishimura syndrome skos:broadMatch Orphanet:79328 semapv:UnspecifiedMatching +GARD:15223 Gillessen-kaesbach-nishimura syndrome skos:exactMatch OMIM:263210 semapv:UnspecifiedMatching +GARD:15224 Short-rib thoracic dysplasia 6 with or without polydactyly skos:broadMatch Orphanet:93269 semapv:UnspecifiedMatching +GARD:15224 Short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch OMIM:263520 semapv:UnspecifiedMatching +GARD:15225 Prenatal bowing skos:broadMatch Orphanet:2292 semapv:UnspecifiedMatching +GARD:15225 Prenatal bowing skos:exactMatch OMIM:264050 semapv:UnspecifiedMatching +GARD:15226 Peroxisome biogenesis disorder 3b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15226 Peroxisome biogenesis disorder 3b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15226 Peroxisome biogenesis disorder 3b skos:exactMatch OMIM:266510 semapv:UnspecifiedMatching +GARD:15227 Short-rib thoracic dysplasia 9 with or without polydactyly skos:broadMatch Orphanet:140969 semapv:UnspecifiedMatching +GARD:15227 Short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch OMIM:266920 semapv:UnspecifiedMatching +GARD:15228 Renal tubular acidosis iii skos:broadMatch Orphanet:2785 semapv:UnspecifiedMatching +GARD:15228 Renal tubular acidosis iii skos:exactMatch OMIM:267200 semapv:UnspecifiedMatching +GARD:15229 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:broadMatch Orphanet:402041 semapv:UnspecifiedMatching +GARD:15229 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch OMIM:267300 semapv:UnspecifiedMatching +GARD:15230 Retinitis pigmentosa, late-adult onset skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15230 Retinitis pigmentosa, late-adult onset skos:exactMatch OMIM:268025 semapv:UnspecifiedMatching +GARD:15231 Retinopathy, pericentral pigmentary, autosomal recessive skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15231 Retinopathy, pericentral pigmentary, autosomal recessive skos:exactMatch OMIM:268060 semapv:UnspecifiedMatching +GARD:15232 Rheumatic fever-related antigen skos:broadMatch Orphanet:3099 semapv:UnspecifiedMatching +GARD:15232 Rheumatic fever-related antigen skos:exactMatch OMIM:268240 semapv:UnspecifiedMatching +GARD:15233 Sclerosteosis 1 skos:broadMatch Orphanet:3152 semapv:UnspecifiedMatching +GARD:15233 Sclerosteosis 1 skos:exactMatch OMIM:269500 semapv:UnspecifiedMatching +GARD:15234 Seizures, benign familial neonatal, autosomal recessive skos:broadMatch Orphanet:1949 semapv:UnspecifiedMatching +GARD:15234 Seizures, benign familial neonatal, autosomal recessive skos:exactMatch OMIM:269720 semapv:UnspecifiedMatching +GARD:15235 Spermatogenic failure 4 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:15235 Spermatogenic failure 4 skos:exactMatch OMIM:270960 semapv:UnspecifiedMatching +GARD:15236 Spherocytosis, type 3 skos:broadMatch Orphanet:822 semapv:UnspecifiedMatching +GARD:15236 Spherocytosis, type 3 skos:exactMatch OMIM:270970 semapv:UnspecifiedMatching +GARD:15237 Spondyloepiphyseal dysplasia tarda, autosomal recessive skos:broadMatch Orphanet:93284 semapv:UnspecifiedMatching +GARD:15237 Spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch OMIM:271600 semapv:UnspecifiedMatching +GARD:15238 Tetraamelia syndrome 1 skos:broadMatch Orphanet:3301 semapv:UnspecifiedMatching +GARD:15238 Tetraamelia syndrome 1 skos:exactMatch OMIM:273395 semapv:UnspecifiedMatching +GARD:15239 Three m syndrome 1 skos:broadMatch Orphanet:2616 semapv:UnspecifiedMatching +GARD:15239 Three m syndrome 1 skos:exactMatch OMIM:273750 semapv:UnspecifiedMatching +GARD:15240 Glanzmann thrombasthenia 1 skos:broadMatch Orphanet:849 semapv:UnspecifiedMatching +GARD:15240 Glanzmann thrombasthenia 1 skos:exactMatch OMIM:273800 semapv:UnspecifiedMatching +GARD:15241 Usher syndrome, type iia skos:broadMatch Orphanet:231178 semapv:UnspecifiedMatching +GARD:15241 Usher syndrome, type iia skos:exactMatch OMIM:276901 semapv:UnspecifiedMatching +GARD:15242 Usher syndrome, type iiia skos:broadMatch Orphanet:231183 semapv:UnspecifiedMatching +GARD:15242 Usher syndrome, type iiia skos:exactMatch OMIM:276902 semapv:UnspecifiedMatching +GARD:15243 Vas deferens, congenital bilateral aplasia of skos:broadMatch Orphanet:48 semapv:UnspecifiedMatching +GARD:15243 Vas deferens, congenital bilateral aplasia of skos:exactMatch OMIM:277180 semapv:UnspecifiedMatching +GARD:15244 Pontocerebellar hypoplasia, type 2a skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +GARD:15244 Pontocerebellar hypoplasia, type 2a skos:exactMatch OMIM:277470 semapv:UnspecifiedMatching +GARD:15245 Waardenburg syndrome, type 4a skos:broadMatch Orphanet:897 semapv:UnspecifiedMatching +GARD:15245 Waardenburg syndrome, type 4a skos:exactMatch OMIM:277580 semapv:UnspecifiedMatching +GARD:15246 Weill-marchesani syndrome 1 skos:broadMatch Orphanet:3449 semapv:UnspecifiedMatching +GARD:15246 Weill-marchesani syndrome 1 skos:exactMatch OMIM:277600 semapv:UnspecifiedMatching +GARD:15247 Hypotrichosis 8 skos:broadMatch Orphanet:170 semapv:UnspecifiedMatching +GARD:15247 Hypotrichosis 8 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:15247 Hypotrichosis 8 skos:exactMatch OMIM:278150 semapv:UnspecifiedMatching +GARD:15248 Myopathy due to myoadenylate deaminase deficiency skos:broadMatch Orphanet:45 semapv:UnspecifiedMatching +GARD:15248 Myopathy due to myoadenylate deaminase deficiency skos:exactMatch OMIM:615511 semapv:UnspecifiedMatching +GARD:15249 46,xx sex reversal 2 skos:broadMatch Orphanet:393 semapv:UnspecifiedMatching +GARD:15249 46,xx sex reversal 2 skos:exactMatch OMIM:278850 semapv:UnspecifiedMatching +GARD:1525 Spinocerebellar degeneration-corneal dystrophy syndrome skos:exactMatch Orphanet:3177 semapv:UnspecifiedMatching +GARD:1525 Spinocerebellar degeneration-corneal dystrophy syndrome skos:narrowMatch OMIM:271310 semapv:UnspecifiedMatching +GARD:15250 Ichthyosis, x-linked, without steroid sulfatase deficiency skos:broadMatch Orphanet:461 semapv:UnspecifiedMatching +GARD:15250 Ichthyosis, x-linked, without steroid sulfatase deficiency skos:exactMatch OMIM:300001 semapv:UnspecifiedMatching +GARD:15251 Night blindness, congenital stationary, type 2a skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15251 Night blindness, congenital stationary, type 2a skos:exactMatch OMIM:300071 semapv:UnspecifiedMatching +GARD:15253 Prostate cancer, hereditary, x-linked 1 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15253 Prostate cancer, hereditary, x-linked 1 skos:exactMatch OMIM:300147 semapv:UnspecifiedMatching +GARD:15254 Intellectual developmental disorder, x-linked, syndromic, lubs type skos:broadMatch Orphanet:1762 semapv:UnspecifiedMatching +GARD:15254 Intellectual developmental disorder, x-linked, syndromic, lubs type skos:exactMatch OMIM:300260 semapv:UnspecifiedMatching +GARD:15255 Progressive familial intrahepatic cholestasis skos:exactMatch Orphanet:172 semapv:UnspecifiedMatching +GARD:15255 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:211600 semapv:UnspecifiedMatching +GARD:15255 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:601847 semapv:UnspecifiedMatching +GARD:15255 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:602347 semapv:UnspecifiedMatching +GARD:15255 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:615878 semapv:UnspecifiedMatching +GARD:15256 Polymicrogyria, bilateral perisylvian, x-linked skos:broadMatch Orphanet:98889 semapv:UnspecifiedMatching +GARD:15256 Polymicrogyria, bilateral perisylvian, x-linked skos:exactMatch OMIM:300388 semapv:UnspecifiedMatching +GARD:15257 Fanconi anemia, complementation group b skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15257 Fanconi anemia, complementation group b skos:exactMatch OMIM:300514 semapv:UnspecifiedMatching +GARD:15258 Myopathy, congenital, with fiber-type disproportion, x-linked skos:broadMatch Orphanet:2020 semapv:UnspecifiedMatching +GARD:15258 Myopathy, congenital, with fiber-type disproportion, x-linked skos:exactMatch OMIM:300580 semapv:UnspecifiedMatching +GARD:15259 Cornelia de lange syndrome 2 skos:broadMatch Orphanet:199 semapv:UnspecifiedMatching +GARD:15259 Cornelia de lange syndrome 2 skos:exactMatch OMIM:300590 semapv:UnspecifiedMatching +GARD:15260 Prostate cancer, hereditary, x-linked 2 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15260 Prostate cancer, hereditary, x-linked 2 skos:exactMatch OMIM:300704 semapv:UnspecifiedMatching +GARD:15261 Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset skos:broadMatch Orphanet:97239 semapv:UnspecifiedMatching +GARD:15261 Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset skos:exactMatch OMIM:300717 semapv:UnspecifiedMatching +GARD:15262 Reducing body myopathy, x-linked 1b, with late childhood or adult onset skos:broadMatch Orphanet:97239 semapv:UnspecifiedMatching +GARD:15262 Reducing body myopathy, x-linked 1b, with late childhood or adult onset skos:exactMatch OMIM:300718 semapv:UnspecifiedMatching +GARD:15263 Surfactant metabolism dysfunction, pulmonary, 4 skos:broadMatch Orphanet:264675 semapv:UnspecifiedMatching +GARD:15263 Surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch OMIM:300770 semapv:UnspecifiedMatching +GARD:15264 Intellectual developmental disorder, x-linked, syndromic, raymond type skos:broadMatch Orphanet:776 semapv:UnspecifiedMatching +GARD:15264 Intellectual developmental disorder, x-linked, syndromic, raymond type skos:exactMatch OMIM:300799 semapv:UnspecifiedMatching +GARD:15265 Joubert syndrome 10 skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +GARD:15265 Joubert syndrome 10 skos:exactMatch OMIM:300804 semapv:UnspecifiedMatching +GARD:15266 Chromosome xq28 duplication syndrome skos:broadMatch Orphanet:1762 semapv:UnspecifiedMatching +GARD:15266 Chromosome xq28 duplication syndrome skos:exactMatch OMIM:300815 semapv:UnspecifiedMatching +GARD:15267 46,xx sex reversal 3 skos:broadMatch Orphanet:393 semapv:UnspecifiedMatching +GARD:15267 46,xx sex reversal 3 skos:exactMatch OMIM:300833 semapv:UnspecifiedMatching +GARD:15268 Macular degeneration, x-linked atrophic skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15268 Macular degeneration, x-linked atrophic skos:exactMatch OMIM:300834 semapv:UnspecifiedMatching +GARD:15269 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15269 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia skos:exactMatch OMIM:300857 semapv:UnspecifiedMatching +GARD:15270 Kabuki syndrome 2 skos:broadMatch Orphanet:2322 semapv:UnspecifiedMatching +GARD:15270 Kabuki syndrome 2 skos:exactMatch OMIM:300867 semapv:UnspecifiedMatching +GARD:15271 Cornelia de lange syndrome 5 skos:broadMatch Orphanet:199 semapv:UnspecifiedMatching +GARD:15271 Cornelia de lange syndrome 5 skos:exactMatch OMIM:300882 semapv:UnspecifiedMatching +GARD:15272 Linear skin defects with multiple congenital anomalies 2 skos:broadMatch Orphanet:2556 semapv:UnspecifiedMatching +GARD:15272 Linear skin defects with multiple congenital anomalies 2 skos:exactMatch OMIM:300887 semapv:UnspecifiedMatching +GARD:15273 Olmsted syndrome, x-linked skos:broadMatch Orphanet:659 semapv:UnspecifiedMatching +GARD:15273 Olmsted syndrome, x-linked skos:exactMatch OMIM:300918 semapv:UnspecifiedMatching +GARD:15274 Pituitary adenoma 2, growth hormone-secreting skos:broadMatch Orphanet:963 semapv:UnspecifiedMatching +GARD:15274 Pituitary adenoma 2, growth hormone-secreting skos:exactMatch OMIM:300943 semapv:UnspecifiedMatching +GARD:15275 Diamond-blackfan anemia 14 with mandibulofacial dysostosis skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15275 Diamond-blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch OMIM:300946 semapv:UnspecifiedMatching +GARD:15276 Linear skin defects with multiple congenital anomalies 3 skos:broadMatch Orphanet:2556 semapv:UnspecifiedMatching +GARD:15276 Linear skin defects with multiple congenital anomalies 3 skos:exactMatch OMIM:300952 semapv:UnspecifiedMatching +GARD:15277 Trichothiodystrophy 5, nonphotosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +GARD:15277 Trichothiodystrophy 5, nonphotosensitive skos:exactMatch OMIM:300953 semapv:UnspecifiedMatching +GARD:15278 Ritscher-schinzel syndrome 2 skos:broadMatch Orphanet:7 semapv:UnspecifiedMatching +GARD:15278 Ritscher-schinzel syndrome 2 skos:exactMatch OMIM:300963 semapv:UnspecifiedMatching +GARD:15279 Vas deferens, congenital bilateral aplasia of, x-linked skos:broadMatch Orphanet:48 semapv:UnspecifiedMatching +GARD:15279 Vas deferens, congenital bilateral aplasia of, x-linked skos:exactMatch OMIM:300985 semapv:UnspecifiedMatching +GARD:15280 Ciliary dyskinesia, primary, 36, x-linked skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15280 Ciliary dyskinesia, primary, 36, x-linked skos:exactMatch OMIM:300991 semapv:UnspecifiedMatching +GARD:15281 Galloway-mowat syndrome 2, x-linked skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:15281 Galloway-mowat syndrome 2, x-linked skos:exactMatch OMIM:301006 semapv:UnspecifiedMatching +GARD:15282 Intellectual developmental disorder, x-linked, syndromic, houge type skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:15282 Intellectual developmental disorder, x-linked, syndromic, houge type skos:exactMatch OMIM:301008 semapv:UnspecifiedMatching +GARD:15283 Mitochondrial complex i deficiency, nuclear type 12 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:15283 Mitochondrial complex i deficiency, nuclear type 12 skos:exactMatch OMIM:301020 semapv:UnspecifiedMatching +GARD:15284 Mitochondrial complex i deficiency, nuclear type 30 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:15284 Mitochondrial complex i deficiency, nuclear type 30 skos:exactMatch OMIM:301021 semapv:UnspecifiedMatching +GARD:15285 Nephrotic syndrome, type 20 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15285 Nephrotic syndrome, type 20 skos:exactMatch OMIM:301028 semapv:UnspecifiedMatching +GARD:15286 Developmental and epileptic encephalopathy 90 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:15286 Developmental and epileptic encephalopathy 90 skos:exactMatch OMIM:301058 semapv:UnspecifiedMatching +GARD:15287 Cardiomyopathy, dilated, 3b skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15287 Cardiomyopathy, dilated, 3b skos:exactMatch OMIM:302045 semapv:UnspecifiedMatching +GARD:15289 Diabetes insipidus, nephrogenic, 1, x-linked skos:broadMatch Orphanet:223 semapv:UnspecifiedMatching +GARD:15289 Diabetes insipidus, nephrogenic, 1, x-linked skos:exactMatch OMIM:304800 semapv:UnspecifiedMatching +GARD:1529 Corneal dystrophy-perceptive deafness syndrome skos:exactMatch Orphanet:1490 semapv:UnspecifiedMatching +GARD:1529 Corneal dystrophy-perceptive deafness syndrome skos:narrowMatch OMIM:217400 semapv:UnspecifiedMatching +GARD:15290 Dyggve-melchior-clausen syndrome, x-linked skos:broadMatch Orphanet:239 semapv:UnspecifiedMatching +GARD:15290 Dyggve-melchior-clausen syndrome, x-linked skos:exactMatch OMIM:304950 semapv:UnspecifiedMatching +GARD:15291 Epidermodysplasia verruciformis, x-linked skos:broadMatch Orphanet:302 semapv:UnspecifiedMatching +GARD:15291 Epidermodysplasia verruciformis, x-linked skos:exactMatch OMIM:305350 semapv:UnspecifiedMatching +GARD:15292 Exudative vitreoretinopathy 2, x-linked skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +GARD:15292 Exudative vitreoretinopathy 2, x-linked skos:exactMatch OMIM:305390 semapv:UnspecifiedMatching +GARD:15293 Frontometaphyseal dysplasia 1 skos:broadMatch Orphanet:1826 semapv:UnspecifiedMatching +GARD:15293 Frontometaphyseal dysplasia 1 skos:exactMatch OMIM:305620 semapv:UnspecifiedMatching +GARD:15294 Granulomatous disease, chronic, x-linked skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +GARD:15294 Granulomatous disease, chronic, x-linked skos:exactMatch OMIM:306400 semapv:UnspecifiedMatching +GARD:15295 Hernia, anterior diaphragmatic skos:broadMatch Orphanet:2140 semapv:UnspecifiedMatching +GARD:15295 Hernia, anterior diaphragmatic skos:exactMatch OMIM:306950 semapv:UnspecifiedMatching +GARD:15296 Hypouricemia, familial renal, due to tubular hypersecretion skos:broadMatch Orphanet:94088 semapv:UnspecifiedMatching +GARD:15296 Hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch OMIM:307830 semapv:UnspecifiedMatching +GARD:15297 Ifap syndrome 1, with or without bresheck syndrome skos:broadMatch Orphanet:2273 semapv:UnspecifiedMatching +GARD:15297 Ifap syndrome 1, with or without bresheck syndrome skos:exactMatch OMIM:308205 semapv:UnspecifiedMatching +GARD:15298 Developmental and epileptic encephalopathy 1 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:15298 Developmental and epileptic encephalopathy 1 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:15298 Developmental and epileptic encephalopathy 1 skos:exactMatch OMIM:308350 semapv:UnspecifiedMatching +GARD:15299 Keratosis follicularis spinulosa decalvans, x-linked skos:broadMatch Orphanet:2340 semapv:UnspecifiedMatching +GARD:15299 Keratosis follicularis spinulosa decalvans, x-linked skos:exactMatch OMIM:308800 semapv:UnspecifiedMatching +GARD:15300 Leber hereditary optic neuropathy, modifier of skos:broadMatch Orphanet:104 semapv:UnspecifiedMatching +GARD:15300 Leber hereditary optic neuropathy, modifier of skos:exactMatch OMIM:308905 semapv:UnspecifiedMatching +GARD:15301 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:broadMatch Orphanet:93622 semapv:UnspecifiedMatching +GARD:15301 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch OMIM:308990 semapv:UnspecifiedMatching +GARD:15302 Spermatogenic failure, x-linked, 2 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:15302 Spermatogenic failure, x-linked, 2 skos:exactMatch OMIM:309120 semapv:UnspecifiedMatching +GARD:15304 Microphthalmia, syndromic 1 skos:broadMatch Orphanet:568 semapv:UnspecifiedMatching +GARD:15304 Microphthalmia, syndromic 1 skos:exactMatch OMIM:309800 semapv:UnspecifiedMatching +GARD:15305 Nephrolithiasis, x-linked recessive, with renal failure skos:broadMatch Orphanet:93622 semapv:UnspecifiedMatching +GARD:15305 Nephrolithiasis, x-linked recessive, with renal failure skos:exactMatch OMIM:310468 semapv:UnspecifiedMatching +GARD:15306 Night blindness, congenital stationary, type 1a skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15306 Night blindness, congenital stationary, type 1a skos:exactMatch OMIM:310500 semapv:UnspecifiedMatching +GARD:15308 Split-hand/foot malformation 2 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +GARD:15308 Split-hand/foot malformation 2 skos:exactMatch OMIM:313350 semapv:UnspecifiedMatching +GARD:15309 Vacterl association, x-linked, with or without hydrocephalus skos:broadMatch Orphanet:3412 semapv:UnspecifiedMatching +GARD:15309 Vacterl association, x-linked, with or without hydrocephalus skos:exactMatch OMIM:314390 semapv:UnspecifiedMatching +GARD:1531 Corneodermatoosseous syndrome skos:exactMatch Orphanet:3194 semapv:UnspecifiedMatching +GARD:1531 Corneodermatoosseous syndrome skos:narrowMatch OMIM:122440 semapv:UnspecifiedMatching +GARD:15310 Retinitis pigmentosa, y-linked skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15310 Retinitis pigmentosa, y-linked skos:exactMatch OMIM:400004 semapv:UnspecifiedMatching +GARD:15311 Leber optic atrophy and dystonia skos:broadMatch Orphanet:99718 semapv:UnspecifiedMatching +GARD:15311 Leber optic atrophy and dystonia skos:exactMatch OMIM:500001 semapv:UnspecifiedMatching +GARD:15312 Myopathy, lactic acidosis, and sideroblastic anemia 3 skos:broadMatch Orphanet:2598 semapv:UnspecifiedMatching +GARD:15312 Myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch OMIM:500011 semapv:UnspecifiedMatching +GARD:15313 Wolfram syndrome, mitochondrial form skos:broadMatch Orphanet:3463 semapv:UnspecifiedMatching +GARD:15313 Wolfram syndrome, mitochondrial form skos:exactMatch OMIM:598500 semapv:UnspecifiedMatching +GARD:15314 Stargardt disease 3 skos:broadMatch Orphanet:827 semapv:UnspecifiedMatching +GARD:15314 Stargardt disease 3 skos:exactMatch OMIM:600110 semapv:UnspecifiedMatching +GARD:15315 Hirschsprung disease, susceptibility to, 2 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15315 Hirschsprung disease, susceptibility to, 2 skos:exactMatch OMIM:600155 semapv:UnspecifiedMatching +GARD:15316 Hirschsprung disease, susceptibility to, 5 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15316 Hirschsprung disease, susceptibility to, 5 skos:exactMatch OMIM:600156 semapv:UnspecifiedMatching +GARD:15317 Muscular dystrophy, scapulohumeral skos:broadMatch Orphanet:269 semapv:UnspecifiedMatching +GARD:15317 Muscular dystrophy, scapulohumeral skos:exactMatch OMIM:600416 semapv:UnspecifiedMatching +GARD:15319 Epilepsy, nocturnal frontal lobe, 1 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +GARD:15319 Epilepsy, nocturnal frontal lobe, 1 skos:exactMatch OMIM:600513 semapv:UnspecifiedMatching +GARD:15320 Uv-sensitive syndrome 1 skos:broadMatch Orphanet:178338 semapv:UnspecifiedMatching +GARD:15320 Uv-sensitive syndrome 1 skos:exactMatch OMIM:600630 semapv:UnspecifiedMatching +GARD:15321 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +GARD:15321 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement skos:exactMatch OMIM:600638 semapv:UnspecifiedMatching +GARD:15322 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:broadMatch Orphanet:275864 semapv:UnspecifiedMatching +GARD:15322 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15322 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:600795 semapv:UnspecifiedMatching +GARD:15323 Cardiomyopathy, dilated, 1b skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15323 Cardiomyopathy, dilated, 1b skos:exactMatch OMIM:600884 semapv:UnspecifiedMatching +GARD:15324 Fanconi anemia, complementation group e skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15324 Fanconi anemia, complementation group e skos:exactMatch OMIM:600901 semapv:UnspecifiedMatching +GARD:15325 Wiskott-aldrich syndrome, autosomal dominant skos:broadMatch Orphanet:906 semapv:UnspecifiedMatching +GARD:15325 Wiskott-aldrich syndrome, autosomal dominant skos:exactMatch OMIM:600903 semapv:UnspecifiedMatching +GARD:15326 Nephrotic syndrome, type 2 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15326 Nephrotic syndrome, type 2 skos:exactMatch OMIM:600995 semapv:UnspecifiedMatching +GARD:15327 Cataract 24 skos:broadMatch Orphanet:98988 semapv:UnspecifiedMatching +GARD:15327 Cataract 24 skos:exactMatch OMIM:601202 semapv:UnspecifiedMatching +GARD:15328 Wilms tumor 4 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +GARD:15328 Wilms tumor 4 skos:exactMatch OMIM:601363 semapv:UnspecifiedMatching +GARD:15329 Platelet disorder, familial, with associated myeloid malignancy skos:broadMatch Orphanet:71290 semapv:UnspecifiedMatching +GARD:15329 Platelet disorder, familial, with associated myeloid malignancy skos:exactMatch OMIM:601399 semapv:UnspecifiedMatching +GARD:1533 Coronary arterial fistula skos:exactMatch Orphanet:2041 semapv:UnspecifiedMatching +GARD:15330 Myasthenic syndrome, congenital, 1a, slow-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:15330 Myasthenic syndrome, congenital, 1a, slow-channel skos:exactMatch OMIM:601462 semapv:UnspecifiedMatching +GARD:15331 Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15331 Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch OMIM:601493 semapv:UnspecifiedMatching +GARD:15332 Cardiomyopathy, dilated, 1d skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15332 Cardiomyopathy, dilated, 1d skos:exactMatch OMIM:601494 semapv:UnspecifiedMatching +GARD:15334 Prostate cancer, hereditary, 1 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15334 Prostate cancer, hereditary, 1 skos:exactMatch OMIM:601518 semapv:UnspecifiedMatching +GARD:15335 Cataract 3, multiple types skos:broadMatch Orphanet:1377 semapv:UnspecifiedMatching +GARD:15335 Cataract 3, multiple types skos:broadMatch Orphanet:98994 semapv:UnspecifiedMatching +GARD:15335 Cataract 3, multiple types skos:exactMatch OMIM:601547 semapv:UnspecifiedMatching +GARD:15336 Wilms tumor 5 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +GARD:15336 Wilms tumor 5 skos:exactMatch OMIM:601583 semapv:UnspecifiedMatching +GARD:15337 Exudative vitreoretinopathy 4 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +GARD:15337 Exudative vitreoretinopathy 4 skos:exactMatch OMIM:601813 semapv:UnspecifiedMatching +GARD:1534 Coronary artery congenital malformation skos:exactMatch Orphanet:1081 semapv:UnspecifiedMatching +GARD:15340 Friedreich ataxia 2 skos:broadMatch Orphanet:95 semapv:UnspecifiedMatching +GARD:15340 Friedreich ataxia 2 skos:exactMatch OMIM:601992 semapv:UnspecifiedMatching +GARD:15341 Fibrosis of extraocular muscles, congenital, 2 skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +GARD:15341 Fibrosis of extraocular muscles, congenital, 2 skos:exactMatch OMIM:602078 semapv:UnspecifiedMatching +GARD:15342 Cone dystrophy 3 skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +GARD:15342 Cone dystrophy 3 skos:exactMatch OMIM:602093 semapv:UnspecifiedMatching +GARD:15343 Amyotrophic lateral sclerosis 5, juvenile skos:broadMatch Orphanet:300605 semapv:UnspecifiedMatching +GARD:15343 Amyotrophic lateral sclerosis 5, juvenile skos:exactMatch OMIM:602099 semapv:UnspecifiedMatching +GARD:15344 Nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:broadMatch Orphanet:171 semapv:UnspecifiedMatching +GARD:15344 Nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch OMIM:602114 semapv:UnspecifiedMatching +GARD:15346 Auriculocondylar syndrome 1 skos:broadMatch Orphanet:137888 semapv:UnspecifiedMatching +GARD:15346 Auriculocondylar syndrome 1 skos:exactMatch OMIM:602483 semapv:UnspecifiedMatching +GARD:15347 Chondrodysplasia punctata, brachytelephalangic, autosomal skos:broadMatch Orphanet:79345 semapv:UnspecifiedMatching +GARD:15347 Chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch OMIM:602497 semapv:UnspecifiedMatching +GARD:15348 Bartter syndrome, type 4a, neonatal, with sensorineural deafness skos:broadMatch Orphanet:89938 semapv:UnspecifiedMatching +GARD:15348 Bartter syndrome, type 4a, neonatal, with sensorineural deafness skos:exactMatch OMIM:602522 semapv:UnspecifiedMatching +GARD:15349 Ichthyosis, hystrix-like, with deafness skos:broadMatch Orphanet:477 semapv:UnspecifiedMatching +GARD:15349 Ichthyosis, hystrix-like, with deafness skos:exactMatch OMIM:602540 semapv:UnspecifiedMatching +GARD:15350 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:broadMatch Orphanet:402041 semapv:UnspecifiedMatching +GARD:15350 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch OMIM:602722 semapv:UnspecifiedMatching +GARD:15351 Prostate cancer, hereditary, 8 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15351 Prostate cancer, hereditary, 8 skos:exactMatch OMIM:602759 semapv:UnspecifiedMatching +GARD:15352 Epilepsy, nocturnal frontal lobe, 2 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +GARD:15352 Epilepsy, nocturnal frontal lobe, 2 skos:exactMatch OMIM:603204 semapv:UnspecifiedMatching +GARD:15353 Focal segmental glomerulosclerosis 1 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15353 Focal segmental glomerulosclerosis 1 skos:exactMatch OMIM:603278 semapv:UnspecifiedMatching +GARD:15354 Thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +GARD:15354 Thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch OMIM:603386 semapv:UnspecifiedMatching +GARD:15355 Fanconi anemia, complementation group f skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15355 Fanconi anemia, complementation group f skos:exactMatch OMIM:603467 semapv:UnspecifiedMatching +GARD:15356 Cone-rod dystrophy 7 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15356 Cone-rod dystrophy 7 skos:exactMatch OMIM:603649 semapv:UnspecifiedMatching +GARD:15357 Prostate cancer/brain cancer susceptibility skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15357 Prostate cancer/brain cancer susceptibility skos:exactMatch OMIM:603688 semapv:UnspecifiedMatching +GARD:15358 Papillary thyroid microcarcinoma skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +GARD:15358 Papillary thyroid microcarcinoma skos:exactMatch OMIM:603744 semapv:UnspecifiedMatching +GARD:15359 Stargardt disease 4 skos:broadMatch Orphanet:827 semapv:UnspecifiedMatching +GARD:15359 Stargardt disease 4 skos:exactMatch OMIM:603786 semapv:UnspecifiedMatching +GARD:15360 Microcephaly with simplified gyral pattern skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15360 Microcephaly with simplified gyral pattern skos:exactMatch OMIM:603802 semapv:UnspecifiedMatching +GARD:15361 Autoimmune lymphoproliferative syndrome, type iia skos:broadMatch Orphanet:3261 semapv:UnspecifiedMatching +GARD:15361 Autoimmune lymphoproliferative syndrome, type iia skos:exactMatch OMIM:603909 semapv:UnspecifiedMatching +GARD:15362 Focal segmental glomerulosclerosis 2 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15362 Focal segmental glomerulosclerosis 2 skos:exactMatch OMIM:603965 semapv:UnspecifiedMatching +GARD:15363 Cardiomyopathy, dilated, 1g skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15363 Cardiomyopathy, dilated, 1g skos:exactMatch OMIM:604145 semapv:UnspecifiedMatching +GARD:15364 Cataract 9, multiple types skos:broadMatch Orphanet:1377 semapv:UnspecifiedMatching +GARD:15364 Cataract 9, multiple types skos:exactMatch OMIM:604219 semapv:UnspecifiedMatching +GARD:15365 Cardiomyopathy, dilated, 1h skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15365 Cardiomyopathy, dilated, 1h skos:exactMatch OMIM:604288 semapv:UnspecifiedMatching +GARD:15366 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15366 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch OMIM:604317 semapv:UnspecifiedMatching +GARD:15367 Microcephaly 4, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15367 Microcephaly 4, primary, autosomal recessive skos:exactMatch OMIM:604321 semapv:UnspecifiedMatching +GARD:15368 Advanced sleep phase syndrome, familial, 1 skos:broadMatch Orphanet:164736 semapv:UnspecifiedMatching +GARD:15368 Advanced sleep phase syndrome, familial, 1 skos:exactMatch OMIM:604348 semapv:UnspecifiedMatching +GARD:1537 Corpus callosum agenesis-neuronopathy syndrome skos:exactMatch Orphanet:1496 semapv:UnspecifiedMatching +GARD:1537 Corpus callosum agenesis-neuronopathy syndrome skos:narrowMatch OMIM:218000 semapv:UnspecifiedMatching +GARD:15370 Van der woude syndrome 1, modifier of skos:broadMatch Orphanet:888 semapv:UnspecifiedMatching +GARD:15370 Van der woude syndrome 1, modifier of skos:exactMatch OMIM:604547 semapv:UnspecifiedMatching +GARD:15372 Cardiomyopathy, dilated, 1i skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15372 Cardiomyopathy, dilated, 1i skos:exactMatch OMIM:604765 semapv:UnspecifiedMatching +GARD:15373 Microcephaly 3, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15373 Microcephaly 3, primary, autosomal recessive skos:exactMatch OMIM:604804 semapv:UnspecifiedMatching +GARD:15374 Wolfram syndrome 2 skos:broadMatch Orphanet:3463 semapv:UnspecifiedMatching +GARD:15374 Wolfram syndrome 2 skos:exactMatch OMIM:604928 semapv:UnspecifiedMatching +GARD:15375 Cortisone reductase deficiency 1 skos:broadMatch Orphanet:168588 semapv:UnspecifiedMatching +GARD:15375 Cortisone reductase deficiency 1 skos:exactMatch OMIM:604931 semapv:UnspecifiedMatching +GARD:15376 Hypobetalipoproteinemia, familial, 2 skos:broadMatch Orphanet:14 semapv:UnspecifiedMatching +GARD:15376 Hypobetalipoproteinemia, familial, 2 skos:exactMatch OMIM:605019 semapv:UnspecifiedMatching +GARD:15377 Carney complex, type 2 skos:broadMatch Orphanet:1359 semapv:UnspecifiedMatching +GARD:15377 Carney complex, type 2 skos:exactMatch OMIM:605244 semapv:UnspecifiedMatching +GARD:15378 Split-hand/foot malformation 4 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +GARD:15378 Split-hand/foot malformation 4 skos:exactMatch OMIM:605289 semapv:UnspecifiedMatching +GARD:15379 Optic atrophy 4 skos:broadMatch Orphanet:98673 semapv:UnspecifiedMatching +GARD:15379 Optic atrophy 4 skos:exactMatch OMIM:605293 semapv:UnspecifiedMatching +GARD:15380 Epilepsy, nocturnal frontal lobe, 3 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +GARD:15380 Epilepsy, nocturnal frontal lobe, 3 skos:exactMatch OMIM:605375 semapv:UnspecifiedMatching +GARD:15381 Cone-rod dystrophy 8 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15381 Cone-rod dystrophy 8 skos:exactMatch OMIM:605549 semapv:UnspecifiedMatching +GARD:15382 Cardiomyopathy, dilated, 1k skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15382 Cardiomyopathy, dilated, 1k skos:exactMatch OMIM:605582 semapv:UnspecifiedMatching +GARD:15383 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:broadMatch Orphanet:166260 semapv:UnspecifiedMatching +GARD:15383 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch OMIM:605594 semapv:UnspecifiedMatching +GARD:15384 Cerebellar ataxia and hypergonadotropic hypogonadism skos:broadMatch Orphanet:1173 semapv:UnspecifiedMatching +GARD:15384 Cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch OMIM:605672 semapv:UnspecifiedMatching +GARD:15385 Microphthalmia, isolated, with coloboma 2 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:15385 Microphthalmia, isolated, with coloboma 2 skos:exactMatch OMIM:605738 semapv:UnspecifiedMatching +GARD:15386 Exudative vitreoretinopathy 3 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +GARD:15386 Exudative vitreoretinopathy 3 skos:exactMatch OMIM:605750 semapv:UnspecifiedMatching +GARD:15387 Myasthenic syndrome, congenital, 4a, slow-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:15387 Myasthenic syndrome, congenital, 4a, slow-channel skos:exactMatch OMIM:605809 semapv:UnspecifiedMatching +GARD:15388 Narcolepsy 2, susceptibility to skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +GARD:15388 Narcolepsy 2, susceptibility to skos:exactMatch OMIM:605841 semapv:UnspecifiedMatching +GARD:15389 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:broadMatch Orphanet:64753 semapv:UnspecifiedMatching +GARD:15389 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch OMIM:606002 semapv:UnspecifiedMatching +GARD:15390 Diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15390 Diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch OMIM:606164 semapv:UnspecifiedMatching +GARD:15391 Thyroid cancer, nonmedullary, 3 skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +GARD:15391 Thyroid cancer, nonmedullary, 3 skos:exactMatch OMIM:606240 semapv:UnspecifiedMatching +GARD:15392 Maturity-onset diabetes of the young skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:15392 Maturity-onset diabetes of the young skos:exactMatch OMIM:606391 semapv:UnspecifiedMatching +GARD:15393 Ichthyosis, congenital, autosomal recessive 3 skos:broadMatch Orphanet:281122 semapv:UnspecifiedMatching +GARD:15393 Ichthyosis, congenital, autosomal recessive 3 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +GARD:15393 Ichthyosis, congenital, autosomal recessive 3 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +GARD:15393 Ichthyosis, congenital, autosomal recessive 3 skos:exactMatch OMIM:606545 semapv:UnspecifiedMatching +GARD:15394 Melanoma, uveal, susceptibility to, 1 skos:broadMatch Orphanet:39044 semapv:UnspecifiedMatching +GARD:15394 Melanoma, uveal, susceptibility to, 1 skos:exactMatch OMIM:606660 semapv:UnspecifiedMatching +GARD:15395 Melanoma, uveal, susceptibility to, 2 skos:broadMatch Orphanet:39044 semapv:UnspecifiedMatching +GARD:15395 Melanoma, uveal, susceptibility to, 2 skos:exactMatch OMIM:606661 semapv:UnspecifiedMatching +GARD:15396 Waardenburg syndrome, type 2c skos:broadMatch Orphanet:895 semapv:UnspecifiedMatching +GARD:15396 Waardenburg syndrome, type 2c skos:exactMatch OMIM:606662 semapv:UnspecifiedMatching +GARD:15397 Cardiomyopathy, dilated, 1l skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15397 Cardiomyopathy, dilated, 1l skos:exactMatch OMIM:606685 semapv:UnspecifiedMatching +GARD:15398 Split-hand/foot malformation 5 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +GARD:15398 Split-hand/foot malformation 5 skos:exactMatch OMIM:606708 semapv:UnspecifiedMatching +GARD:15399 Seckel syndrome 2 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +GARD:15399 Seckel syndrome 2 skos:exactMatch OMIM:606744 semapv:UnspecifiedMatching +GARD:15400 Ciliary dyskinesia, primary, 2 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15400 Ciliary dyskinesia, primary, 2 skos:exactMatch OMIM:606763 semapv:UnspecifiedMatching +GARD:15401 Pancreatic cancer, susceptibility to, 1 skos:broadMatch Orphanet:1333 semapv:UnspecifiedMatching +GARD:15401 Pancreatic cancer, susceptibility to, 1 skos:exactMatch OMIM:606856 semapv:UnspecifiedMatching +GARD:15402 Hirschsprung disease, susceptibility to, 6 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15402 Hirschsprung disease, susceptibility to, 6 skos:exactMatch OMIM:606874 semapv:UnspecifiedMatching +GARD:15403 Hirschsprung disease, susceptibility to, 7 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15403 Hirschsprung disease, susceptibility to, 7 skos:exactMatch OMIM:606875 semapv:UnspecifiedMatching +GARD:15404 Usher syndrome, type ig skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:15404 Usher syndrome, type ig skos:exactMatch OMIM:606943 semapv:UnspecifiedMatching +GARD:15405 Senior-loken syndrome 3 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:15405 Senior-loken syndrome 3 skos:exactMatch OMIM:606995 semapv:UnspecifiedMatching +GARD:15406 Senior-loken syndrome 4 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:15406 Senior-loken syndrome 4 skos:exactMatch OMIM:606996 semapv:UnspecifiedMatching +GARD:15407 Brachydactyly, type a1, b skos:broadMatch Orphanet:93388 semapv:UnspecifiedMatching +GARD:15407 Brachydactyly, type a1, b skos:exactMatch OMIM:607004 semapv:UnspecifiedMatching +GARD:15408 Aortic aneurysm, familial thoracic 1 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:15408 Aortic aneurysm, familial thoracic 1 skos:exactMatch OMIM:607086 semapv:UnspecifiedMatching +GARD:15409 Aortic aneurysm, familial thoracic 2 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:15409 Aortic aneurysm, familial thoracic 2 skos:exactMatch OMIM:607087 semapv:UnspecifiedMatching +GARD:15410 Moyamoya disease 2 skos:broadMatch Orphanet:2573 semapv:UnspecifiedMatching +GARD:15410 Moyamoya disease 2 skos:exactMatch OMIM:607151 semapv:UnspecifiedMatching +GARD:15411 Smith-mccort dysplasia 1 skos:broadMatch Orphanet:178355 semapv:UnspecifiedMatching +GARD:15411 Smith-mccort dysplasia 1 skos:exactMatch OMIM:607326 semapv:UnspecifiedMatching +GARD:15412 Glucocorticoid deficiency 2 skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +GARD:15412 Glucocorticoid deficiency 2 skos:exactMatch OMIM:607398 semapv:UnspecifiedMatching +GARD:15413 Cardiomyopathy, dilated, 1m skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15413 Cardiomyopathy, dilated, 1m skos:exactMatch OMIM:607482 semapv:UnspecifiedMatching +GARD:15414 Atrial fibrillation, familial, 3 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15414 Atrial fibrillation, familial, 3 skos:exactMatch OMIM:607554 semapv:UnspecifiedMatching +GARD:15415 Leprosy, susceptibility to, 2 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +GARD:15415 Leprosy, susceptibility to, 2 skos:exactMatch OMIM:607572 semapv:UnspecifiedMatching +GARD:15416 Pontocerebellar hypoplasia, type 1a skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +GARD:15416 Pontocerebellar hypoplasia, type 1a skos:exactMatch OMIM:607596 semapv:UnspecifiedMatching +GARD:15417 Ichthyosis, cyclic, with epidermolytic hyperkeratosis skos:broadMatch Orphanet:312 semapv:UnspecifiedMatching +GARD:15417 Ichthyosis, cyclic, with epidermolytic hyperkeratosis skos:exactMatch OMIM:607602 semapv:UnspecifiedMatching +GARD:15418 Candidiasis, familial, 3 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:15418 Candidiasis, familial, 3 skos:exactMatch OMIM:607644 semapv:UnspecifiedMatching +GARD:15420 Hypotrichosis-lymphedema-telangiectasia syndrome skos:broadMatch Orphanet:69735 semapv:UnspecifiedMatching +GARD:15420 Hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch OMIM:607823 semapv:UnspecifiedMatching +GARD:15421 Mitral valve prolapse 2 skos:broadMatch Orphanet:741 semapv:UnspecifiedMatching +GARD:15421 Mitral valve prolapse 2 skos:exactMatch OMIM:607829 semapv:UnspecifiedMatching +GARD:15422 Focal segmental glomerulosclerosis 3, susceptibility to skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15422 Focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch OMIM:607832 semapv:UnspecifiedMatching +GARD:15423 Hypotrichosis 6 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:15423 Hypotrichosis 6 skos:exactMatch OMIM:607903 semapv:UnspecifiedMatching +GARD:15424 Periventricular heterotopia with microcephaly, autosomal recessive skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:15424 Periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch OMIM:608097 semapv:UnspecifiedMatching +GARD:15425 Periventricular nodular heterotopia 3 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:15425 Periventricular nodular heterotopia 3 skos:exactMatch OMIM:608098 semapv:UnspecifiedMatching +GARD:15426 Cone-rod dystrophy 13 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15426 Cone-rod dystrophy 13 skos:exactMatch OMIM:608194 semapv:UnspecifiedMatching +GARD:15427 Seizures, benign familial neonatal, 3 skos:broadMatch Orphanet:1949 semapv:UnspecifiedMatching +GARD:15427 Seizures, benign familial neonatal, 3 skos:exactMatch OMIM:608217 semapv:UnspecifiedMatching +GARD:15428 Weill-marchesani syndrome 2 skos:broadMatch Orphanet:3449 semapv:UnspecifiedMatching +GARD:15428 Weill-marchesani syndrome 2 skos:exactMatch OMIM:608328 semapv:UnspecifiedMatching +GARD:15429 Myopathy, myosin storage, autosomal dominant skos:broadMatch Orphanet:53698 semapv:UnspecifiedMatching +GARD:15429 Myopathy, myosin storage, autosomal dominant skos:exactMatch OMIM:608358 semapv:UnspecifiedMatching +GARD:15430 Branchiootic syndrome 3 skos:broadMatch Orphanet:52429 semapv:UnspecifiedMatching +GARD:15430 Branchiootic syndrome 3 skos:exactMatch OMIM:608389 semapv:UnspecifiedMatching +GARD:15431 Microcephaly 6, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15431 Microcephaly 6, primary, autosomal recessive skos:exactMatch OMIM:608393 semapv:UnspecifiedMatching +GARD:15432 Hirschsprung disease, susceptibility to, 8 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15432 Hirschsprung disease, susceptibility to, 8 skos:exactMatch OMIM:608462 semapv:UnspecifiedMatching +GARD:15434 Cardiomyopathy, dilated, 1o skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15434 Cardiomyopathy, dilated, 1o skos:exactMatch OMIM:608569 semapv:UnspecifiedMatching +GARD:15435 Joubert syndrome 3 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +GARD:15435 Joubert syndrome 3 skos:exactMatch OMIM:608629 semapv:UnspecifiedMatching +GARD:15436 Ciliary dyskinesia, primary, 3 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15436 Ciliary dyskinesia, primary, 3 skos:exactMatch OMIM:608644 semapv:UnspecifiedMatching +GARD:15437 Ciliary dyskinesia, primary, 4 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15437 Ciliary dyskinesia, primary, 4 skos:exactMatch OMIM:608646 semapv:UnspecifiedMatching +GARD:15438 Ciliary dyskinesia, primary, 5 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15438 Ciliary dyskinesia, primary, 5 skos:exactMatch OMIM:608647 semapv:UnspecifiedMatching +GARD:15439 Prostate cancer, hereditary, 3 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15439 Prostate cancer, hereditary, 3 skos:exactMatch OMIM:608656 semapv:UnspecifiedMatching +GARD:1544 Congenitally corrected transposition of the great arteries skos:exactMatch Orphanet:216694 semapv:UnspecifiedMatching +GARD:15440 Prostate cancer, hereditary, 4 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15440 Prostate cancer, hereditary, 4 skos:exactMatch OMIM:608658 semapv:UnspecifiedMatching +GARD:15441 Microcephaly 5, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15441 Microcephaly 5, primary, autosomal recessive skos:exactMatch OMIM:608716 semapv:UnspecifiedMatching +GARD:15442 Moyamoya disease 3 skos:broadMatch Orphanet:2573 semapv:UnspecifiedMatching +GARD:15442 Moyamoya disease 3 skos:exactMatch OMIM:608796 semapv:UnspecifiedMatching +GARD:15443 Myoclonic epilepsy, juvenile, susceptibility to, 3 skos:broadMatch Orphanet:307 semapv:UnspecifiedMatching +GARD:15443 Myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch OMIM:608816 semapv:UnspecifiedMatching +GARD:15444 Waardenburg syndrome, type 2d skos:broadMatch Orphanet:895 semapv:UnspecifiedMatching +GARD:15444 Waardenburg syndrome, type 2d skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching +GARD:15445 Myasthenic syndrome, congenital, 1b, fast-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:15445 Myasthenic syndrome, congenital, 1b, fast-channel skos:exactMatch OMIM:608930 semapv:UnspecifiedMatching +GARD:15446 Atrial fibrillation, familial, 2 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15446 Atrial fibrillation, familial, 2 skos:exactMatch OMIM:608988 semapv:UnspecifiedMatching +GARD:15447 Narcolepsy 3 skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +GARD:15447 Narcolepsy 3 skos:exactMatch OMIM:609039 semapv:UnspecifiedMatching +GARD:15448 Fanconi anemia, complementation group i skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15448 Fanconi anemia, complementation group i skos:exactMatch OMIM:609053 semapv:UnspecifiedMatching +GARD:15449 Fanconi anemia, complementation group j skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15449 Fanconi anemia, complementation group j skos:exactMatch OMIM:609054 semapv:UnspecifiedMatching +GARD:15450 Glucocorticoid deficiency 3 skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +GARD:15450 Glucocorticoid deficiency 3 skos:exactMatch OMIM:609197 semapv:UnspecifiedMatching +GARD:15451 Senior-loken syndrome 5 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:15451 Senior-loken syndrome 5 skos:exactMatch OMIM:609254 semapv:UnspecifiedMatching +GARD:15452 Nemaline myopathy 6 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +GARD:15452 Nemaline myopathy 6 skos:exactMatch OMIM:609273 semapv:UnspecifiedMatching +GARD:15453 Nemaline myopathy 1 skos:broadMatch Orphanet:171433 semapv:UnspecifiedMatching +GARD:15453 Nemaline myopathy 1 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +GARD:15453 Nemaline myopathy 1 skos:exactMatch OMIM:609284 semapv:UnspecifiedMatching +GARD:15454 Nemaline myopathy 4 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +GARD:15454 Nemaline myopathy 4 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +GARD:15454 Nemaline myopathy 4 skos:exactMatch OMIM:609285 semapv:UnspecifiedMatching +GARD:15455 Prostate cancer, hereditary, 5 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15455 Prostate cancer, hereditary, 5 skos:exactMatch OMIM:609299 semapv:UnspecifiedMatching +GARD:15456 Developmental and epileptic encephalopathy 3 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:15456 Developmental and epileptic encephalopathy 3 skos:broadMatch Orphanet:1935 semapv:UnspecifiedMatching +GARD:15456 Developmental and epileptic encephalopathy 3 skos:exactMatch OMIM:609304 semapv:UnspecifiedMatching +GARD:15457 Colorectal cancer, hereditary nonpolyposis, type 2 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +GARD:15457 Colorectal cancer, hereditary nonpolyposis, type 2 skos:exactMatch OMIM:609310 semapv:UnspecifiedMatching +GARD:15458 Cerebrorenodigital syndrome with limb malformations and triradiate acetabula skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:15458 Cerebrorenodigital syndrome with limb malformations and triradiate acetabula skos:exactMatch OMIM:609345 semapv:UnspecifiedMatching +GARD:15459 Fibrosis of extraocular muscles, congenital, 3c skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +GARD:15459 Fibrosis of extraocular muscles, congenital, 3c skos:exactMatch OMIM:609384 semapv:UnspecifiedMatching +GARD:15460 Left ventricular noncompaction 2 skos:broadMatch Orphanet:54260 semapv:UnspecifiedMatching +GARD:15460 Left ventricular noncompaction 2 skos:exactMatch OMIM:609470 semapv:UnspecifiedMatching +GARD:15461 Stickler syndrome, type i, nonsyndromic ocular skos:broadMatch Orphanet:90653 semapv:UnspecifiedMatching +GARD:15461 Stickler syndrome, type i, nonsyndromic ocular skos:exactMatch OMIM:609508 semapv:UnspecifiedMatching +GARD:15462 Prostate cancer, hereditary, 6 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15462 Prostate cancer, hereditary, 6 skos:exactMatch OMIM:609558 semapv:UnspecifiedMatching +GARD:15463 Photoparoxysmal response 2 skos:broadMatch Orphanet:166409 semapv:UnspecifiedMatching +GARD:15463 Photoparoxysmal response 2 skos:exactMatch OMIM:609572 semapv:UnspecifiedMatching +GARD:15464 Photoparoxysmal response 3 skos:broadMatch Orphanet:166409 semapv:UnspecifiedMatching +GARD:15464 Photoparoxysmal response 3 skos:exactMatch OMIM:609573 semapv:UnspecifiedMatching +GARD:15465 Joubert syndrome 4 skos:broadMatch Orphanet:220497 semapv:UnspecifiedMatching +GARD:15465 Joubert syndrome 4 skos:exactMatch OMIM:609583 semapv:UnspecifiedMatching +GARD:15466 Fibrosis of extraocular muscles, congenital, with synergistic divergence skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +GARD:15466 Fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch OMIM:609612 semapv:UnspecifiedMatching +GARD:15467 Leukemia, chronic lymphocytic, susceptibility to, 1 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +GARD:15467 Leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch OMIM:609630 semapv:UnspecifiedMatching +GARD:15469 Cardiomyopathy, dilated, 1p skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15469 Cardiomyopathy, dilated, 1p skos:exactMatch OMIM:609909 semapv:UnspecifiedMatching +GARD:15470 Cardiomyopathy, dilated, 1q skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15470 Cardiomyopathy, dilated, 1q skos:exactMatch OMIM:609915 semapv:UnspecifiedMatching +GARD:15471 Microphthalmia, isolated, with coloboma 3 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:15471 Microphthalmia, isolated, with coloboma 3 skos:exactMatch OMIM:610092 semapv:UnspecifiedMatching +GARD:15472 Aicardi-goutieres syndrome 2 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:15472 Aicardi-goutieres syndrome 2 skos:exactMatch OMIM:610181 semapv:UnspecifiedMatching +GARD:15473 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 skos:broadMatch Orphanet:1766 semapv:UnspecifiedMatching +GARD:15473 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 skos:exactMatch OMIM:610185 semapv:UnspecifiedMatching +GARD:15474 Diaphragmatic hernia 3 skos:broadMatch Orphanet:2140 semapv:UnspecifiedMatching +GARD:15474 Diaphragmatic hernia 3 skos:exactMatch OMIM:610187 semapv:UnspecifiedMatching +GARD:15475 Joubert syndrome 5 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +GARD:15475 Joubert syndrome 5 skos:exactMatch OMIM:610188 semapv:UnspecifiedMatching +GARD:15476 Senior-loken syndrome 6 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:15476 Senior-loken syndrome 6 skos:exactMatch OMIM:610189 semapv:UnspecifiedMatching +GARD:15477 Cone-rod dystrophy 10 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15477 Cone-rod dystrophy 10 skos:exactMatch OMIM:610283 semapv:UnspecifiedMatching +GARD:15478 Prostate cancer, hereditary, 7 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15478 Prostate cancer, hereditary, 7 skos:exactMatch OMIM:610321 semapv:UnspecifiedMatching +GARD:15479 Aicardi-goutieres syndrome 3 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:15479 Aicardi-goutieres syndrome 3 skos:exactMatch OMIM:610329 semapv:UnspecifiedMatching +GARD:1548 Cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch Orphanet:1389 semapv:UnspecifiedMatching +GARD:1548 Cortical blindness-intellectual disability-polydactyly syndrome skos:narrowMatch OMIM:218010 semapv:UnspecifiedMatching +GARD:15480 Aicardi-goutieres syndrome 4 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:15480 Aicardi-goutieres syndrome 4 skos:exactMatch OMIM:610333 semapv:UnspecifiedMatching +GARD:15481 Epilepsy, nocturnal frontal lobe, 4 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +GARD:15481 Epilepsy, nocturnal frontal lobe, 4 skos:exactMatch OMIM:610353 semapv:UnspecifiedMatching +GARD:15482 Diabetes mellitus, transient neonatal, 2 skos:broadMatch Orphanet:99886 semapv:UnspecifiedMatching +GARD:15482 Diabetes mellitus, transient neonatal, 2 skos:exactMatch OMIM:610374 semapv:UnspecifiedMatching +GARD:15483 West nile virus, susceptibility to skos:broadMatch Orphanet:83476 semapv:UnspecifiedMatching +GARD:15483 West nile virus, susceptibility to skos:exactMatch OMIM:610379 semapv:UnspecifiedMatching +GARD:15484 Cone-rod dystrophy 11 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15484 Cone-rod dystrophy 11 skos:exactMatch OMIM:610381 semapv:UnspecifiedMatching +GARD:15485 Cone-rod synaptic disorder, congenital nonprogressive skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15485 Cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch OMIM:610427 semapv:UnspecifiedMatching +GARD:15486 Macroglobulinemia, waldenstrom, susceptibility to, 2 skos:broadMatch Orphanet:33226 semapv:UnspecifiedMatching +GARD:15486 Macroglobulinemia, waldenstrom, susceptibility to, 2 skos:exactMatch OMIM:610430 semapv:UnspecifiedMatching +GARD:15487 Night blindness, congenital stationary, autosomal dominant 3 skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15487 Night blindness, congenital stationary, autosomal dominant 3 skos:exactMatch OMIM:610444 semapv:UnspecifiedMatching +GARD:15488 Night blindness, congenital stationary, autosomal dominant 1 skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15488 Night blindness, congenital stationary, autosomal dominant 1 skos:exactMatch OMIM:610445 semapv:UnspecifiedMatching +GARD:15489 Pigmented nodular adrenocortical disease, primary, 2 skos:broadMatch Orphanet:189439 semapv:UnspecifiedMatching +GARD:15489 Pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch OMIM:610475 semapv:UnspecifiedMatching +GARD:15490 Diabetes mellitus, transient neonatal, 3 skos:broadMatch Orphanet:99886 semapv:UnspecifiedMatching +GARD:15490 Diabetes mellitus, transient neonatal, 3 skos:exactMatch OMIM:610582 semapv:UnspecifiedMatching +GARD:15492 Split-hand/foot malformation with long bone deficiency 2 skos:broadMatch Orphanet:3329 semapv:UnspecifiedMatching +GARD:15492 Split-hand/foot malformation with long bone deficiency 2 skos:exactMatch OMIM:610685 semapv:UnspecifiedMatching +GARD:15493 Nemaline myopathy 7 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +GARD:15493 Nemaline myopathy 7 skos:exactMatch OMIM:610687 semapv:UnspecifiedMatching +GARD:15494 Joubert syndrome 6 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:15494 Joubert syndrome 6 skos:exactMatch OMIM:610688 semapv:UnspecifiedMatching +GARD:15495 Nephrotic syndrome, type 3 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15495 Nephrotic syndrome, type 3 skos:exactMatch OMIM:610725 semapv:UnspecifiedMatching +GARD:15496 Alopecia areata 2 skos:broadMatch Orphanet:700 semapv:UnspecifiedMatching +GARD:15496 Alopecia areata 2 skos:broadMatch Orphanet:701 semapv:UnspecifiedMatching +GARD:15496 Alopecia areata 2 skos:exactMatch OMIM:610753 semapv:UnspecifiedMatching +GARD:15497 Cerebrooculofacioskeletal syndrome 2 skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +GARD:15497 Cerebrooculofacioskeletal syndrome 2 skos:exactMatch OMIM:610756 semapv:UnspecifiedMatching +GARD:15498 Cerebrooculofacioskeletal syndrome 4 skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +GARD:15498 Cerebrooculofacioskeletal syndrome 4 skos:exactMatch OMIM:610758 semapv:UnspecifiedMatching +GARD:15499 Cornelia de lange syndrome 3 with or without midline brain defects skos:broadMatch Orphanet:199 semapv:UnspecifiedMatching +GARD:15499 Cornelia de lange syndrome 3 with or without midline brain defects skos:exactMatch OMIM:610759 semapv:UnspecifiedMatching +GARD:155 Laurin-Sandrow syndrome skos:exactMatch Orphanet:2378 semapv:UnspecifiedMatching +GARD:155 Laurin-Sandrow syndrome skos:narrowMatch OMIM:135750 semapv:UnspecifiedMatching +GARD:1550 Costello syndrome skos:exactMatch Orphanet:3071 semapv:UnspecifiedMatching +GARD:1550 Costello syndrome skos:narrowMatch OMIM:218040 semapv:UnspecifiedMatching +GARD:15500 Fanconi anemia, complementation group n skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15500 Fanconi anemia, complementation group n skos:exactMatch OMIM:610832 semapv:UnspecifiedMatching +GARD:15501 Mitral valve prolapse 3 skos:broadMatch Orphanet:741 semapv:UnspecifiedMatching +GARD:15501 Mitral valve prolapse 3 skos:exactMatch OMIM:610840 semapv:UnspecifiedMatching +GARD:15502 Ciliary dyskinesia, primary, 6 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15502 Ciliary dyskinesia, primary, 6 skos:exactMatch OMIM:610852 semapv:UnspecifiedMatching +GARD:15503 Branchiootorenal syndrome 2 skos:broadMatch Orphanet:107 semapv:UnspecifiedMatching +GARD:15503 Branchiootorenal syndrome 2 skos:exactMatch OMIM:610896 semapv:UnspecifiedMatching +GARD:15504 Leprosy, susceptibility to, 4 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +GARD:15504 Leprosy, susceptibility to, 4 skos:exactMatch OMIM:610988 semapv:UnspecifiedMatching +GARD:15505 Prostate cancer, hereditary, 9 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15505 Prostate cancer, hereditary, 9 skos:exactMatch OMIM:610997 semapv:UnspecifiedMatching +GARD:15506 Episodic kinesigenic dyskinesia 2 skos:broadMatch Orphanet:98809 semapv:UnspecifiedMatching +GARD:15506 Episodic kinesigenic dyskinesia 2 skos:exactMatch OMIM:611031 semapv:UnspecifiedMatching +GARD:15507 Prostate cancer, hereditary, 10 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15507 Prostate cancer, hereditary, 10 skos:exactMatch OMIM:611100 semapv:UnspecifiedMatching +GARD:15508 Retinitis pigmentosa 37 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15508 Retinitis pigmentosa 37 skos:exactMatch OMIM:611131 semapv:UnspecifiedMatching +GARD:15509 Meckel syndrome, type 4 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:15509 Meckel syndrome, type 4 skos:exactMatch OMIM:611134 semapv:UnspecifiedMatching +GARD:1551 Congenitally short costocoracoid ligament skos:exactMatch Orphanet:2391 semapv:UnspecifiedMatching +GARD:1551 Congenitally short costocoracoid ligament skos:narrowMatch OMIM:122580 semapv:UnspecifiedMatching +GARD:15510 Paroxysmal nonkinesigenic dyskinesia 2 skos:broadMatch Orphanet:98810 semapv:UnspecifiedMatching +GARD:15510 Paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch OMIM:611147 semapv:UnspecifiedMatching +GARD:15511 Short-rib thoracic dysplasia 2 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:15511 Short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch OMIM:611263 semapv:UnspecifiedMatching +GARD:15512 Atrial septal defect 4 skos:broadMatch Orphanet:99103 semapv:UnspecifiedMatching +GARD:15512 Atrial septal defect 4 skos:exactMatch OMIM:611363 semapv:UnspecifiedMatching +GARD:15513 Myoclonic epilepsy, juvenile, susceptibility to, 4 skos:broadMatch Orphanet:307 semapv:UnspecifiedMatching +GARD:15513 Myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch OMIM:611364 semapv:UnspecifiedMatching +GARD:15514 Usher syndrome, type iid skos:broadMatch Orphanet:231178 semapv:UnspecifiedMatching +GARD:15514 Usher syndrome, type iid skos:exactMatch OMIM:611383 semapv:UnspecifiedMatching +GARD:15515 Cardiomyopathy, dilated, 1w skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15515 Cardiomyopathy, dilated, 1w skos:exactMatch OMIM:611407 semapv:UnspecifiedMatching +GARD:15516 Atrial fibrillation, familial, 4 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15516 Atrial fibrillation, familial, 4 skos:exactMatch OMIM:611493 semapv:UnspecifiedMatching +GARD:15517 Atrial fibrillation, familial, 5 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15517 Atrial fibrillation, familial, 5 skos:exactMatch OMIM:611494 semapv:UnspecifiedMatching +GARD:15518 Leopard syndrome 2 skos:broadMatch Orphanet:500 semapv:UnspecifiedMatching +GARD:15518 Leopard syndrome 2 skos:exactMatch OMIM:611554 semapv:UnspecifiedMatching +GARD:15519 Joubert syndrome 7 skos:broadMatch Orphanet:220497 semapv:UnspecifiedMatching +GARD:15519 Joubert syndrome 7 skos:exactMatch OMIM:611560 semapv:UnspecifiedMatching +GARD:15520 Meckel syndrome, type 5 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:15520 Meckel syndrome, type 5 skos:exactMatch OMIM:611561 semapv:UnspecifiedMatching +GARD:15521 Waardenburg syndrome, type 2e skos:broadMatch Orphanet:895 semapv:UnspecifiedMatching +GARD:15521 Waardenburg syndrome, type 2e skos:exactMatch OMIM:611584 semapv:UnspecifiedMatching +GARD:15522 Cardiomyopathy, dilated, 1x skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15522 Cardiomyopathy, dilated, 1x skos:exactMatch OMIM:611615 semapv:UnspecifiedMatching +GARD:15523 Epilepsy, familial temporal lobe, 4 skos:broadMatch Orphanet:98819 semapv:UnspecifiedMatching +GARD:15523 Epilepsy, familial temporal lobe, 4 skos:exactMatch OMIM:611631 semapv:UnspecifiedMatching +GARD:15524 Microphthalmia, isolated, with coloboma 5 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:15524 Microphthalmia, isolated, with coloboma 5 skos:exactMatch OMIM:611638 semapv:UnspecifiedMatching +GARD:15525 Hirschsprung disease, susceptibility to, 9 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15525 Hirschsprung disease, susceptibility to, 9 skos:exactMatch OMIM:611644 semapv:UnspecifiedMatching +GARD:15526 Brugada syndrome 2 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:15526 Brugada syndrome 2 skos:exactMatch OMIM:611777 semapv:UnspecifiedMatching +GARD:15527 Aortic aneurysm, familial thoracic 6 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:15527 Aortic aneurysm, familial thoracic 6 skos:exactMatch OMIM:611788 semapv:UnspecifiedMatching +GARD:15528 Elliptocytosis 1 skos:broadMatch Orphanet:288 semapv:UnspecifiedMatching +GARD:15528 Elliptocytosis 1 skos:exactMatch OMIM:611804 semapv:UnspecifiedMatching +GARD:15529 Prostate cancer, hereditary, 12 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15529 Prostate cancer, hereditary, 12 skos:exactMatch OMIM:611868 semapv:UnspecifiedMatching +GARD:15530 Cardiomyopathy, dilated, 1y skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15530 Cardiomyopathy, dilated, 1y skos:exactMatch OMIM:611878 semapv:UnspecifiedMatching +GARD:15531 Cardiomyopathy, dilated, 1z skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15531 Cardiomyopathy, dilated, 1z skos:exactMatch OMIM:611879 semapv:UnspecifiedMatching +GARD:15532 Cardiomyopathy, dilated, 2a skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15532 Cardiomyopathy, dilated, 2a skos:exactMatch OMIM:611880 semapv:UnspecifiedMatching +GARD:15533 Ciliary dyskinesia, primary, 7 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15533 Ciliary dyskinesia, primary, 7 skos:exactMatch OMIM:611884 semapv:UnspecifiedMatching +GARD:15534 Prostate cancer, hereditary, 13 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15534 Prostate cancer, hereditary, 13 skos:exactMatch OMIM:611928 semapv:UnspecifiedMatching +GARD:15535 Ventricular tachycardia, catecholaminergic polymorphic, 2 skos:broadMatch Orphanet:3286 semapv:UnspecifiedMatching +GARD:15535 Ventricular tachycardia, catecholaminergic polymorphic, 2 skos:exactMatch OMIM:611938 semapv:UnspecifiedMatching +GARD:15536 Prostate cancer, hereditary, 11 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15536 Prostate cancer, hereditary, 11 skos:exactMatch OMIM:611955 semapv:UnspecifiedMatching +GARD:15537 Prostate cancer, hereditary, 14 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15537 Prostate cancer, hereditary, 14 skos:exactMatch OMIM:611958 semapv:UnspecifiedMatching +GARD:15538 Prostate cancer, hereditary, 15 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15538 Prostate cancer, hereditary, 15 skos:exactMatch OMIM:611959 semapv:UnspecifiedMatching +GARD:15539 Coenzyme q10 deficiency, primary, 4 skos:broadMatch Orphanet:139485 semapv:UnspecifiedMatching +GARD:15539 Coenzyme q10 deficiency, primary, 4 skos:exactMatch OMIM:612016 semapv:UnspecifiedMatching +GARD:15540 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:15540 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15540 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch OMIM:612069 semapv:UnspecifiedMatching +GARD:15541 Hypouricemia, renal, 2 skos:broadMatch Orphanet:94088 semapv:UnspecifiedMatching +GARD:15541 Hypouricemia, renal, 2 skos:exactMatch OMIM:612076 semapv:UnspecifiedMatching +GARD:15542 Ectodermal dysplasia and immunodeficiency 2 skos:broadMatch Orphanet:98813 semapv:UnspecifiedMatching +GARD:15542 Ectodermal dysplasia and immunodeficiency 2 skos:exactMatch OMIM:612132 semapv:UnspecifiedMatching +GARD:15543 Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15543 Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction skos:exactMatch OMIM:612158 semapv:UnspecifiedMatching +GARD:15544 Atrial fibrillation, familial, 6 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15544 Atrial fibrillation, familial, 6 skos:exactMatch OMIM:612201 semapv:UnspecifiedMatching +GARD:15545 Atrial fibrillation, familial, 7 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15545 Atrial fibrillation, familial, 7 skos:exactMatch OMIM:612240 semapv:UnspecifiedMatching +GARD:15546 Ciliary dyskinesia, primary, 8 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15546 Ciliary dyskinesia, primary, 8 skos:exactMatch OMIM:612274 semapv:UnspecifiedMatching +GARD:15547 Ichthyosis, congenital, autosomal recessive 6 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +GARD:15547 Ichthyosis, congenital, autosomal recessive 6 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +GARD:15547 Ichthyosis, congenital, autosomal recessive 6 skos:exactMatch OMIM:612281 semapv:UnspecifiedMatching +GARD:15548 Meckel syndrome, type 6 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:15548 Meckel syndrome, type 6 skos:exactMatch OMIM:612284 semapv:UnspecifiedMatching +GARD:15549 Joubert syndrome 9 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +GARD:15549 Joubert syndrome 9 skos:exactMatch OMIM:612285 semapv:UnspecifiedMatching +GARD:1555 Pelviscapular dysplasia skos:exactMatch Orphanet:93333 semapv:UnspecifiedMatching +GARD:1555 Pelviscapular dysplasia skos:narrowMatch OMIM:260660 semapv:UnspecifiedMatching +GARD:15550 Joubert syndrome 8 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:15550 Joubert syndrome 8 skos:exactMatch OMIM:612291 semapv:UnspecifiedMatching +GARD:15551 Porokeratosis 5, disseminated superficial actinic type skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +GARD:15551 Porokeratosis 5, disseminated superficial actinic type skos:exactMatch OMIM:612293 semapv:UnspecifiedMatching +GARD:15552 Porokeratosis 6, multiple types skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +GARD:15552 Porokeratosis 6, multiple types skos:exactMatch OMIM:612353 semapv:UnspecifiedMatching +GARD:15553 Pontocerebellar hypoplasia, type 2b skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +GARD:15553 Pontocerebellar hypoplasia, type 2b skos:exactMatch OMIM:612389 semapv:UnspecifiedMatching +GARD:15554 Pontocerebellar hypoplasia, type 2c skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +GARD:15554 Pontocerebellar hypoplasia, type 2c skos:exactMatch OMIM:612390 semapv:UnspecifiedMatching +GARD:15555 Narcolepsy 4, susceptibility to skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +GARD:15555 Narcolepsy 4, susceptibility to skos:exactMatch OMIM:612417 semapv:UnspecifiedMatching +GARD:15556 Epilepsy, progressive myoclonic, 1b skos:broadMatch Orphanet:308 semapv:UnspecifiedMatching +GARD:15556 Epilepsy, progressive myoclonic, 1b skos:exactMatch OMIM:612437 semapv:UnspecifiedMatching +GARD:15557 Leukodystrophy, hypomyelinating, 6 skos:broadMatch Orphanet:139441 semapv:UnspecifiedMatching +GARD:15557 Leukodystrophy, hypomyelinating, 6 skos:exactMatch OMIM:612438 semapv:UnspecifiedMatching +GARD:15558 Ciliary dyskinesia, primary, 9 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15558 Ciliary dyskinesia, primary, 9 skos:exactMatch OMIM:612444 semapv:UnspecifiedMatching +GARD:15559 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome skos:broadMatch Orphanet:893 semapv:UnspecifiedMatching +GARD:15559 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome skos:exactMatch OMIM:612469 semapv:UnspecifiedMatching +GARD:15560 Ciliary dyskinesia, primary, 10 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15560 Ciliary dyskinesia, primary, 10 skos:exactMatch OMIM:612518 semapv:UnspecifiedMatching +GARD:15561 Diamond-blackfan anemia 4 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15561 Diamond-blackfan anemia 4 skos:exactMatch OMIM:612527 semapv:UnspecifiedMatching +GARD:15562 Diamond-blackfan anemia 5 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15562 Diamond-blackfan anemia 5 skos:exactMatch OMIM:612528 semapv:UnspecifiedMatching +GARD:15563 Amelogenesis imperfecta, hypomaturation type, iia2 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +GARD:15563 Amelogenesis imperfecta, hypomaturation type, iia2 skos:exactMatch OMIM:612529 semapv:UnspecifiedMatching +GARD:15564 Focal segmental glomerulosclerosis 4, susceptibility to skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15564 Focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch OMIM:612551 semapv:UnspecifiedMatching +GARD:15565 Leukemia, chronic lymphocytic, susceptibility to, 3 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +GARD:15565 Leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch OMIM:612557 semapv:UnspecifiedMatching +GARD:15566 Leukemia, chronic lymphocytic, susceptibility to, 4 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +GARD:15566 Leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch OMIM:612558 semapv:UnspecifiedMatching +GARD:15567 Leukemia, chronic lymphocytic, susceptibility to, 5 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +GARD:15567 Leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch OMIM:612559 semapv:UnspecifiedMatching +GARD:15568 Diamond-blackfan anemia 6 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15568 Diamond-blackfan anemia 6 skos:exactMatch OMIM:612561 semapv:UnspecifiedMatching +GARD:15569 Diamond-blackfan anemia 7 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15569 Diamond-blackfan anemia 7 skos:exactMatch OMIM:612562 semapv:UnspecifiedMatching +GARD:15570 Diamond-blackfan anemia 8 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15570 Diamond-blackfan anemia 8 skos:exactMatch OMIM:612563 semapv:UnspecifiedMatching +GARD:15571 Retinitis pigmentosa 46 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15571 Retinitis pigmentosa 46 skos:exactMatch OMIM:612572 semapv:UnspecifiedMatching +GARD:15572 Chromosome 17p13.3, telomeric, duplication syndrome skos:broadMatch Orphanet:3329 semapv:UnspecifiedMatching +GARD:15572 Chromosome 17p13.3, telomeric, duplication syndrome skos:exactMatch OMIM:612576 semapv:UnspecifiedMatching +GARD:15573 Usher syndrome, type ih skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:15573 Usher syndrome, type ih skos:exactMatch OMIM:612632 semapv:UnspecifiedMatching +GARD:15574 Ciliary dyskinesia, primary, 11 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15574 Ciliary dyskinesia, primary, 11 skos:exactMatch OMIM:612649 semapv:UnspecifiedMatching +GARD:15575 Ciliary dyskinesia, primary, 12 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15575 Ciliary dyskinesia, primary, 12 skos:exactMatch OMIM:612650 semapv:UnspecifiedMatching +GARD:15576 Spherocytosis, type 4 skos:broadMatch Orphanet:822 semapv:UnspecifiedMatching +GARD:15576 Spherocytosis, type 4 skos:exactMatch OMIM:612653 semapv:UnspecifiedMatching +GARD:15577 Cone-rod dystrophy 12 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15577 Cone-rod dystrophy 12 skos:exactMatch OMIM:612657 semapv:UnspecifiedMatching +GARD:15578 Spherocytosis, type 5 skos:broadMatch Orphanet:822 semapv:UnspecifiedMatching +GARD:15578 Spherocytosis, type 5 skos:exactMatch OMIM:612690 semapv:UnspecifiedMatching +GARD:15579 Agammaglobulinemia 6, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +GARD:15579 Agammaglobulinemia 6, autosomal recessive skos:exactMatch OMIM:612692 semapv:UnspecifiedMatching +GARD:1558 Coxoauricular syndrome skos:exactMatch Orphanet:1508 semapv:UnspecifiedMatching +GARD:1558 Coxoauricular syndrome skos:narrowMatch OMIM:122780 semapv:UnspecifiedMatching +GARD:15580 Microcephaly 7, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15580 Microcephaly 7, primary, autosomal recessive skos:exactMatch OMIM:612703 semapv:UnspecifiedMatching +GARD:15581 Dyschromatosis universalis hereditaria 2 skos:broadMatch Orphanet:241 semapv:UnspecifiedMatching +GARD:15581 Dyschromatosis universalis hereditaria 2 skos:exactMatch OMIM:612715 semapv:UnspecifiedMatching +GARD:15582 Cone-rod dystrophy 9 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15582 Cone-rod dystrophy 9 skos:exactMatch OMIM:612775 semapv:UnspecifiedMatching +GARD:15583 Question mark ears, isolated skos:broadMatch Orphanet:137888 semapv:UnspecifiedMatching +GARD:15583 Question mark ears, isolated skos:exactMatch OMIM:612798 semapv:UnspecifiedMatching +GARD:15584 Brugada syndrome 5 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:15584 Brugada syndrome 5 skos:exactMatch OMIM:612838 semapv:UnspecifiedMatching +GARD:15585 Hypotrichosis 5 skos:broadMatch Orphanet:444 semapv:UnspecifiedMatching +GARD:15585 Hypotrichosis 5 skos:exactMatch OMIM:612841 semapv:UnspecifiedMatching +GARD:15586 Keratosis follicularis spinulosa decalvans, autosomal dominant skos:broadMatch Orphanet:2340 semapv:UnspecifiedMatching +GARD:15586 Keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch OMIM:612843 semapv:UnspecifiedMatching +GARD:15587 Narcolepsy 5, susceptibility to skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +GARD:15587 Narcolepsy 5, susceptibility to skos:exactMatch OMIM:612851 semapv:UnspecifiedMatching +GARD:15588 Cardiomyopathy, dilated, 1bb skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15588 Cardiomyopathy, dilated, 1bb skos:exactMatch OMIM:612877 semapv:UnspecifiedMatching +GARD:15589 Chromosome 5q14.3 deletion syndrome, distal skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:15589 Chromosome 5q14.3 deletion syndrome, distal skos:exactMatch OMIM:612881 semapv:UnspecifiedMatching +GARD:15590 Keratosis palmoplantaris striata ii skos:broadMatch Orphanet:50942 semapv:UnspecifiedMatching +GARD:15590 Keratosis palmoplantaris striata ii skos:exactMatch OMIM:612908 semapv:UnspecifiedMatching +GARD:15591 Three m syndrome 2 skos:broadMatch Orphanet:2616 semapv:UnspecifiedMatching +GARD:15591 Three m syndrome 2 skos:exactMatch OMIM:612921 semapv:UnspecifiedMatching +GARD:15592 Spastic paraplegia 50, autosomal recessive skos:broadMatch Orphanet:280763 semapv:UnspecifiedMatching +GARD:15592 Spastic paraplegia 50, autosomal recessive skos:exactMatch OMIM:612936 semapv:UnspecifiedMatching +GARD:15593 Retinitis pigmentosa 42 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15593 Retinitis pigmentosa 42 skos:exactMatch OMIM:612943 semapv:UnspecifiedMatching +GARD:15595 Long qt syndrome 12 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:15595 Long qt syndrome 12 skos:exactMatch OMIM:612955 semapv:UnspecifiedMatching +GARD:15596 Ventricular fibrillation, paroxysmal familial, 2 skos:broadMatch Orphanet:228140 semapv:UnspecifiedMatching +GARD:15596 Ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch OMIM:612956 semapv:UnspecifiedMatching +GARD:15597 Multiple synostoses syndrome 3 skos:broadMatch Orphanet:3237 semapv:UnspecifiedMatching +GARD:15597 Multiple synostoses syndrome 3 skos:exactMatch OMIM:612961 semapv:UnspecifiedMatching +GARD:15598 46,xy sex reversal 3 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +GARD:15598 46,xy sex reversal 3 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +GARD:15598 46,xy sex reversal 3 skos:exactMatch OMIM:612965 semapv:UnspecifiedMatching +GARD:15599 Cataract 34, multiple types skos:broadMatch Orphanet:708 semapv:UnspecifiedMatching +GARD:15599 Cataract 34, multiple types skos:exactMatch OMIM:612968 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:narrowMatch OMIM:236670 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:narrowMatch OMIM:253280 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:narrowMatch OMIM:253800 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:narrowMatch OMIM:613150 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:narrowMatch OMIM:613153 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:narrowMatch OMIM:613154 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:narrowMatch OMIM:615181 semapv:UnspecifiedMatching +GARD:156 Muscle-eye-brain disease skos:narrowMatch OMIM:615350 semapv:UnspecifiedMatching +GARD:15600 Immunodeficiency 83, susceptibility to viral infections skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +GARD:15600 Immunodeficiency 83, susceptibility to viral infections skos:exactMatch OMIM:613002 semapv:UnspecifiedMatching +GARD:15601 Biliary cirrhosis, primary, 2 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +GARD:15601 Biliary cirrhosis, primary, 2 skos:exactMatch OMIM:613007 semapv:UnspecifiedMatching +GARD:15602 Biliary cirrhosis, primary, 3 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +GARD:15602 Biliary cirrhosis, primary, 3 skos:exactMatch OMIM:613008 semapv:UnspecifiedMatching +GARD:15603 Neuroblastoma, susceptibility to, 2 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +GARD:15603 Neuroblastoma, susceptibility to, 2 skos:exactMatch OMIM:613013 semapv:UnspecifiedMatching +GARD:15604 Neuroblastoma, susceptibility to, 3 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +GARD:15604 Neuroblastoma, susceptibility to, 3 skos:exactMatch OMIM:613014 semapv:UnspecifiedMatching +GARD:15605 Neuroblastoma, susceptibility to, 4 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +GARD:15605 Neuroblastoma, susceptibility to, 4 skos:exactMatch OMIM:613015 semapv:UnspecifiedMatching +GARD:15606 Neuroblastoma, susceptibility to, 5 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +GARD:15606 Neuroblastoma, susceptibility to, 5 skos:exactMatch OMIM:613016 semapv:UnspecifiedMatching +GARD:15607 Neuroblastoma, susceptibility to, 6 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +GARD:15607 Neuroblastoma, susceptibility to, 6 skos:exactMatch OMIM:613017 semapv:UnspecifiedMatching +GARD:15608 Follicular lymphoma, susceptibility to, 1 skos:broadMatch Orphanet:545 semapv:UnspecifiedMatching +GARD:15608 Follicular lymphoma, susceptibility to, 1 skos:exactMatch OMIM:613024 semapv:UnspecifiedMatching +GARD:15609 Atrial fibrillation, familial, 8 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15609 Atrial fibrillation, familial, 8 skos:exactMatch OMIM:613055 semapv:UnspecifiedMatching +GARD:1561 Crandall syndrome skos:exactMatch Orphanet:202 semapv:UnspecifiedMatching +GARD:15610 Metaphyseal anadysplasia 2 skos:broadMatch Orphanet:1040 semapv:UnspecifiedMatching +GARD:15610 Metaphyseal anadysplasia 2 skos:exactMatch OMIM:613073 semapv:UnspecifiedMatching +GARD:15611 46,xy sex reversal 5 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +GARD:15611 46,xy sex reversal 5 skos:exactMatch OMIM:613080 semapv:UnspecifiedMatching +GARD:15612 Bartter syndrome, type 4b, neonatal, with sensorineural deafness skos:broadMatch Orphanet:89938 semapv:UnspecifiedMatching +GARD:15612 Bartter syndrome, type 4b, neonatal, with sensorineural deafness skos:exactMatch OMIM:613090 semapv:UnspecifiedMatching +GARD:15613 Short-rib thoracic dysplasia 3 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:15613 Short-rib thoracic dysplasia 3 with or without polydactyly skos:broadMatch Orphanet:93269 semapv:UnspecifiedMatching +GARD:15613 Short-rib thoracic dysplasia 3 with or without polydactyly skos:broadMatch Orphanet:93271 semapv:UnspecifiedMatching +GARD:15613 Short-rib thoracic dysplasia 3 with or without polydactyly skos:exactMatch OMIM:613091 semapv:UnspecifiedMatching +GARD:15614 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +GARD:15614 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch OMIM:613101 semapv:UnspecifiedMatching +GARD:15615 Choroidal dystrophy, central areolar 2 skos:broadMatch Orphanet:75377 semapv:UnspecifiedMatching +GARD:15615 Choroidal dystrophy, central areolar 2 skos:exactMatch OMIM:613105 semapv:UnspecifiedMatching +GARD:15616 Neutropenia, severe congenital, 2, autosomal dominant skos:broadMatch Orphanet:486 semapv:UnspecifiedMatching +GARD:15616 Neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch OMIM:613107 semapv:UnspecifiedMatching +GARD:15617 Candidiasis, familial, 4 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:15617 Candidiasis, familial, 4 skos:exactMatch OMIM:613108 semapv:UnspecifiedMatching +GARD:15618 Neuropathy, hereditary sensory and autonomic, type iib skos:broadMatch Orphanet:970 semapv:UnspecifiedMatching +GARD:15618 Neuropathy, hereditary sensory and autonomic, type iib skos:exactMatch OMIM:613115 semapv:UnspecifiedMatching +GARD:15619 Brugada syndrome 6 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:15619 Brugada syndrome 6 skos:exactMatch OMIM:613119 semapv:UnspecifiedMatching +GARD:15620 Brugada syndrome 7 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:15620 Brugada syndrome 7 skos:exactMatch OMIM:613120 semapv:UnspecifiedMatching +GARD:15621 Cardiomyopathy, dilated, 1cc skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15621 Cardiomyopathy, dilated, 1cc skos:exactMatch OMIM:613122 semapv:UnspecifiedMatching +GARD:15622 Brugada syndrome 8 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:15622 Brugada syndrome 8 skos:exactMatch OMIM:613123 semapv:UnspecifiedMatching +GARD:15623 Choroidal dystrophy, central areolar, 3 skos:broadMatch Orphanet:75377 semapv:UnspecifiedMatching +GARD:15623 Choroidal dystrophy, central areolar, 3 skos:exactMatch OMIM:613144 semapv:UnspecifiedMatching +GARD:15624 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +GARD:15624 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15624 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 skos:exactMatch OMIM:613150 semapv:UnspecifiedMatching +GARD:15625 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +GARD:15625 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15625 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 skos:exactMatch OMIM:613153 semapv:UnspecifiedMatching +GARD:15626 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +GARD:15626 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15626 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 skos:exactMatch OMIM:613154 semapv:UnspecifiedMatching +GARD:15627 Cardiomyopathy, dilated, 1dd skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15627 Cardiomyopathy, dilated, 1dd skos:exactMatch OMIM:613172 semapv:UnspecifiedMatching +GARD:15628 Ciliary dyskinesia, primary, 13 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15628 Ciliary dyskinesia, primary, 13 skos:exactMatch OMIM:613193 semapv:UnspecifiedMatching +GARD:15629 Retinitis pigmentosa 50 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15629 Retinitis pigmentosa 50 skos:exactMatch OMIM:613194 semapv:UnspecifiedMatching +GARD:15630 Amelogenesis imperfecta, hypomaturation type, iia3 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +GARD:15630 Amelogenesis imperfecta, hypomaturation type, iia3 skos:exactMatch OMIM:613211 semapv:UnspecifiedMatching +GARD:15631 Night blindness, congenital stationary, type 1c skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15631 Night blindness, congenital stationary, type 1c skos:exactMatch OMIM:613216 semapv:UnspecifiedMatching +GARD:15632 Leprosy, susceptibility to, 5 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +GARD:15632 Leprosy, susceptibility to, 5 skos:exactMatch OMIM:613223 semapv:UnspecifiedMatching +GARD:15633 Factor xiii, a subunit, deficiency of skos:broadMatch Orphanet:331 semapv:UnspecifiedMatching +GARD:15633 Factor xiii, a subunit, deficiency of skos:exactMatch OMIM:613225 semapv:UnspecifiedMatching +GARD:15634 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 skos:broadMatch Orphanet:1766 semapv:UnspecifiedMatching +GARD:15634 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 skos:exactMatch OMIM:613227 semapv:UnspecifiedMatching +GARD:15635 Factor xiii, b subunit, deficiency of skos:broadMatch Orphanet:331 semapv:UnspecifiedMatching +GARD:15635 Factor xiii, b subunit, deficiency of skos:exactMatch OMIM:613235 semapv:UnspecifiedMatching +GARD:15636 Focal segmental glomerulosclerosis 5 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15636 Focal segmental glomerulosclerosis 5 skos:exactMatch OMIM:613237 semapv:UnspecifiedMatching +GARD:15637 Thyrotoxic periodic paralysis, susceptibility to, 2 skos:broadMatch Orphanet:79102 semapv:UnspecifiedMatching +GARD:15637 Thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch OMIM:613239 semapv:UnspecifiedMatching +GARD:15638 Colorectal cancer, hereditary nonpolyposis, type 8 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +GARD:15638 Colorectal cancer, hereditary nonpolyposis, type 8 skos:exactMatch OMIM:613244 semapv:UnspecifiedMatching +GARD:15639 Cardiomyopathy, dilated, 1ee skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15639 Cardiomyopathy, dilated, 1ee skos:exactMatch OMIM:613252 semapv:UnspecifiedMatching +GARD:1564 Cranio-osteoarthropathy skos:exactMatch Orphanet:1525 semapv:UnspecifiedMatching +GARD:1564 Cranio-osteoarthropathy skos:narrowMatch OMIM:259100 semapv:UnspecifiedMatching +GARD:15640 Tuberous sclerosis 2 skos:broadMatch Orphanet:805 semapv:UnspecifiedMatching +GARD:15640 Tuberous sclerosis 2 skos:exactMatch OMIM:613254 semapv:UnspecifiedMatching +GARD:15641 Waardenburg syndrome, type 4b skos:broadMatch Orphanet:897 semapv:UnspecifiedMatching +GARD:15641 Waardenburg syndrome, type 4b skos:exactMatch OMIM:613265 semapv:UnspecifiedMatching +GARD:15642 Waardenburg syndrome, type 4c skos:broadMatch Orphanet:897 semapv:UnspecifiedMatching +GARD:15642 Waardenburg syndrome, type 4c skos:exactMatch OMIM:613266 semapv:UnspecifiedMatching +GARD:15643 Cardiomyopathy, dilated, 1ff skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15643 Cardiomyopathy, dilated, 1ff skos:exactMatch OMIM:613286 semapv:UnspecifiedMatching +GARD:15644 Diamond-blackfan anemia 9 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15644 Diamond-blackfan anemia 9 skos:exactMatch OMIM:613308 semapv:UnspecifiedMatching +GARD:15645 Diamond-blackfan anemia 10 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15645 Diamond-blackfan anemia 10 skos:exactMatch OMIM:613309 semapv:UnspecifiedMatching +GARD:15646 Exudative vitreoretinopathy 5 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +GARD:15646 Exudative vitreoretinopathy 5 skos:exactMatch OMIM:613310 semapv:UnspecifiedMatching +GARD:15647 Hemochromatosis, type 2b skos:broadMatch Orphanet:79230 semapv:UnspecifiedMatching +GARD:15647 Hemochromatosis, type 2b skos:exactMatch OMIM:613313 semapv:UnspecifiedMatching +GARD:15648 Miyoshi muscular dystrophy 2 skos:broadMatch Orphanet:45448 semapv:UnspecifiedMatching +GARD:15648 Miyoshi muscular dystrophy 2 skos:exactMatch OMIM:613318 semapv:UnspecifiedMatching +GARD:15649 Hypokalemic periodic paralysis, type 2 skos:broadMatch Orphanet:681 semapv:UnspecifiedMatching +GARD:15649 Hypokalemic periodic paralysis, type 2 skos:exactMatch OMIM:613345 semapv:UnspecifiedMatching +GARD:15650 Pancreatic cancer, susceptibility to, 2 skos:broadMatch Orphanet:1333 semapv:UnspecifiedMatching +GARD:15650 Pancreatic cancer, susceptibility to, 2 skos:exactMatch OMIM:613347 semapv:UnspecifiedMatching +GARD:15651 Pancreatic cancer, susceptibility to, 3 skos:broadMatch Orphanet:1333 semapv:UnspecifiedMatching +GARD:15651 Pancreatic cancer, susceptibility to, 3 skos:exactMatch OMIM:613348 semapv:UnspecifiedMatching +GARD:15652 Maturity-onset diabetes of the young, type 10 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:15652 Maturity-onset diabetes of the young, type 10 skos:exactMatch OMIM:613370 semapv:UnspecifiedMatching +GARD:15653 Maturity-onset diabetes of the young, type 11 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:15653 Maturity-onset diabetes of the young, type 11 skos:exactMatch OMIM:613375 semapv:UnspecifiedMatching +GARD:15654 Brachydactyly, type e2 skos:broadMatch Orphanet:93387 semapv:UnspecifiedMatching +GARD:15654 Brachydactyly, type e2 skos:exactMatch OMIM:613382 semapv:UnspecifiedMatching +GARD:15655 Fanconi renotubular syndrome 2 skos:broadMatch Orphanet:3337 semapv:UnspecifiedMatching +GARD:15655 Fanconi renotubular syndrome 2 skos:exactMatch OMIM:613388 semapv:UnspecifiedMatching +GARD:15656 Fanconi anemia, complementation group o skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15656 Fanconi anemia, complementation group o skos:exactMatch OMIM:613390 semapv:UnspecifiedMatching +GARD:15657 Breast-ovarian cancer, familial, susceptibility to, 3 skos:broadMatch Orphanet:145 semapv:UnspecifiedMatching +GARD:15657 Breast-ovarian cancer, familial, susceptibility to, 3 skos:exactMatch OMIM:613399 semapv:UnspecifiedMatching +GARD:15658 Arthrogryposis, renal dysfunction, and cholestasis 2 skos:broadMatch Orphanet:2697 semapv:UnspecifiedMatching +GARD:15658 Arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch OMIM:613404 semapv:UnspecifiedMatching +GARD:15659 Leprosy, susceptibility to, 6 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +GARD:15659 Leprosy, susceptibility to, 6 skos:exactMatch OMIM:613407 semapv:UnspecifiedMatching +GARD:15660 Oguchi disease 2 skos:broadMatch Orphanet:75382 semapv:UnspecifiedMatching +GARD:15660 Oguchi disease 2 skos:exactMatch OMIM:613411 semapv:UnspecifiedMatching +GARD:15661 Cardiomyopathy, dilated, 1r skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15661 Cardiomyopathy, dilated, 1r skos:exactMatch OMIM:613424 semapv:UnspecifiedMatching +GARD:15662 Retinitis pigmentosa 54 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15662 Retinitis pigmentosa 54 skos:exactMatch OMIM:613428 semapv:UnspecifiedMatching +GARD:15663 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15663 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia skos:exactMatch OMIM:613435 semapv:UnspecifiedMatching +GARD:15664 Rett syndrome, congenital variant skos:broadMatch Orphanet:3095 semapv:UnspecifiedMatching +GARD:15664 Rett syndrome, congenital variant skos:exactMatch OMIM:613454 semapv:UnspecifiedMatching +GARD:15665 Retinitis pigmentosa 51 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15665 Retinitis pigmentosa 51 skos:exactMatch OMIM:613464 semapv:UnspecifiedMatching +GARD:15666 Long qt syndrome 13 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:15666 Long qt syndrome 13 skos:exactMatch OMIM:613485 semapv:UnspecifiedMatching +GARD:15667 Myxoid liposarcoma skos:broadMatch Orphanet:99967 semapv:UnspecifiedMatching +GARD:15667 Myxoid liposarcoma skos:exactMatch OMIM:613488 semapv:UnspecifiedMatching +GARD:15668 Immunodeficiency, common variable, 3 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:15668 Immunodeficiency, common variable, 3 skos:exactMatch OMIM:613493 semapv:UnspecifiedMatching +GARD:15669 Immunodeficiency, common variable, 4 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:15669 Immunodeficiency, common variable, 4 skos:exactMatch OMIM:613494 semapv:UnspecifiedMatching +GARD:1567 Craniodiaphyseal dysplasia skos:exactMatch Orphanet:1513 semapv:UnspecifiedMatching +GARD:1567 Craniodiaphyseal dysplasia skos:narrowMatch OMIM:122860 semapv:UnspecifiedMatching +GARD:1567 Craniodiaphyseal dysplasia skos:narrowMatch OMIM:218300 semapv:UnspecifiedMatching +GARD:15670 Immunodeficiency, common variable, 5 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:15670 Immunodeficiency, common variable, 5 skos:exactMatch OMIM:613495 semapv:UnspecifiedMatching +GARD:15671 Immunodeficiency, common variable, 6 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:15671 Immunodeficiency, common variable, 6 skos:exactMatch OMIM:613496 semapv:UnspecifiedMatching +GARD:15672 Agammaglobulinemia 2, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +GARD:15672 Agammaglobulinemia 2, autosomal recessive skos:exactMatch OMIM:613500 semapv:UnspecifiedMatching +GARD:15673 Agammaglobulinemia 3, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +GARD:15673 Agammaglobulinemia 3, autosomal recessive skos:exactMatch OMIM:613501 semapv:UnspecifiedMatching +GARD:15674 Agammaglobulinemia 4, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +GARD:15674 Agammaglobulinemia 4, autosomal recessive skos:exactMatch OMIM:613502 semapv:UnspecifiedMatching +GARD:15675 Agammaglobulinemia 5, autosomal dominant skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +GARD:15675 Agammaglobulinemia 5, autosomal dominant skos:exactMatch OMIM:613506 semapv:UnspecifiedMatching +GARD:15676 Myopathy, lactic acidosis, and sideroblastic anemia 2 skos:broadMatch Orphanet:2598 semapv:UnspecifiedMatching +GARD:15676 Myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch OMIM:613561 semapv:UnspecifiedMatching +GARD:15677 Retinitis pigmentosa 55 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15677 Retinitis pigmentosa 55 skos:exactMatch OMIM:613575 semapv:UnspecifiedMatching +GARD:15678 Retinitis pigmentosa 56 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15678 Retinitis pigmentosa 56 skos:exactMatch OMIM:613581 semapv:UnspecifiedMatching +GARD:15679 Retinitis pigmentosa 57 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15679 Retinitis pigmentosa 57 skos:exactMatch OMIM:613582 semapv:UnspecifiedMatching +GARD:15680 Cranioectodermal dysplasia 2 skos:broadMatch Orphanet:1515 semapv:UnspecifiedMatching +GARD:15680 Cranioectodermal dysplasia 2 skos:exactMatch OMIM:613610 semapv:UnspecifiedMatching +GARD:15681 Senior-loken syndrome 7 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:15681 Senior-loken syndrome 7 skos:exactMatch OMIM:613615 semapv:UnspecifiedMatching +GARD:15682 Retinitis pigmentosa 58 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15682 Retinitis pigmentosa 58 skos:exactMatch OMIM:613617 semapv:UnspecifiedMatching +GARD:15683 Neuropathy, hereditary sensory and autonomic, type ic skos:broadMatch Orphanet:36386 semapv:UnspecifiedMatching +GARD:15683 Neuropathy, hereditary sensory and autonomic, type ic skos:exactMatch OMIM:613640 semapv:UnspecifiedMatching +GARD:15684 Cardiomyopathy, dilated, 1gg skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15684 Cardiomyopathy, dilated, 1gg skos:exactMatch OMIM:613642 semapv:UnspecifiedMatching +GARD:15685 D-2-hydroxyglutaric aciduria 2 skos:broadMatch Orphanet:79315 semapv:UnspecifiedMatching +GARD:15685 D-2-hydroxyglutaric aciduria 2 skos:exactMatch OMIM:613657 semapv:UnspecifiedMatching +GARD:15686 Cone-rod dystrophy 15 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15686 Cone-rod dystrophy 15 skos:exactMatch OMIM:613660 semapv:UnspecifiedMatching +GARD:15687 Seckel syndrome 4 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +GARD:15687 Seckel syndrome 4 skos:exactMatch OMIM:613676 semapv:UnspecifiedMatching +GARD:15688 Chromosome 2q31.1 duplication syndrome skos:broadMatch Orphanet:1836 semapv:UnspecifiedMatching +GARD:15688 Chromosome 2q31.1 duplication syndrome skos:exactMatch OMIM:613681 semapv:UnspecifiedMatching +GARD:15689 Cardiomyopathy, dilated, 1u skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15689 Cardiomyopathy, dilated, 1u skos:exactMatch OMIM:613694 semapv:UnspecifiedMatching +GARD:15690 Cardiomyopathy, dilated, 1v skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15690 Cardiomyopathy, dilated, 1v skos:exactMatch OMIM:613697 semapv:UnspecifiedMatching +GARD:15691 Klippel-feil syndrome 3, autosomal dominant skos:broadMatch Orphanet:2345 semapv:UnspecifiedMatching +GARD:15691 Klippel-feil syndrome 3, autosomal dominant skos:exactMatch OMIM:613702 semapv:UnspecifiedMatching +GARD:15692 Microphthalmia, isolated, with coloboma 6 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:15692 Microphthalmia, isolated, with coloboma 6 skos:exactMatch OMIM:613703 semapv:UnspecifiedMatching +GARD:15693 Noonan syndrome 7 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:15693 Noonan syndrome 7 skos:exactMatch OMIM:613706 semapv:UnspecifiedMatching +GARD:15694 Leopard syndrome 3 skos:broadMatch Orphanet:500 semapv:UnspecifiedMatching +GARD:15694 Leopard syndrome 3 skos:exactMatch OMIM:613707 semapv:UnspecifiedMatching +GARD:15695 Neuropathy, hereditary sensory, type id skos:broadMatch Orphanet:36386 semapv:UnspecifiedMatching +GARD:15695 Neuropathy, hereditary sensory, type id skos:exactMatch OMIM:613708 semapv:UnspecifiedMatching +GARD:15696 Hirschsprung disease, susceptibility to, 3 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15696 Hirschsprung disease, susceptibility to, 3 skos:exactMatch OMIM:613711 semapv:UnspecifiedMatching +GARD:15697 Hirschsprung disease, susceptibility to, 4 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:15697 Hirschsprung disease, susceptibility to, 4 skos:exactMatch OMIM:613712 semapv:UnspecifiedMatching +GARD:15698 Treacher collins syndrome 2 skos:broadMatch Orphanet:861 semapv:UnspecifiedMatching +GARD:15698 Treacher collins syndrome 2 skos:exactMatch OMIM:613717 semapv:UnspecifiedMatching +GARD:15699 Developmental and epileptic encephalopathy 11 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:15699 Developmental and epileptic encephalopathy 11 skos:exactMatch OMIM:613721 semapv:UnspecifiedMatching +GARD:157 Hirschsprung disease-deafness-polydactyly syndrome skos:exactMatch Orphanet:2155 semapv:UnspecifiedMatching +GARD:157 Hirschsprung disease-deafness-polydactyly syndrome skos:narrowMatch OMIM:235740 semapv:UnspecifiedMatching +GARD:15700 Retinitis pigmentosa 27 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15700 Retinitis pigmentosa 27 skos:exactMatch OMIM:613750 semapv:UnspecifiedMatching +GARD:15701 Retinitis pigmentosa 49 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15701 Retinitis pigmentosa 49 skos:exactMatch OMIM:613756 semapv:UnspecifiedMatching +GARD:15702 Retinitis pigmentosa 47 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15702 Retinitis pigmentosa 47 skos:exactMatch OMIM:613758 semapv:UnspecifiedMatching +GARD:15703 46,xy sex reversal 6 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +GARD:15703 46,xy sex reversal 6 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +GARD:15703 46,xy sex reversal 6 skos:exactMatch OMIM:613762 semapv:UnspecifiedMatching +GARD:15704 Retinitis pigmentosa 45 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15704 Retinitis pigmentosa 45 skos:exactMatch OMIM:613767 semapv:UnspecifiedMatching +GARD:15705 Retinitis pigmentosa 44 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15705 Retinitis pigmentosa 44 skos:exactMatch OMIM:613769 semapv:UnspecifiedMatching +GARD:15706 Aortic aneurysm, familial thoracic 7 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:15706 Aortic aneurysm, familial thoracic 7 skos:exactMatch OMIM:613780 semapv:UnspecifiedMatching +GARD:15707 Complement component c1s deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +GARD:15707 Complement component c1s deficiency skos:exactMatch OMIM:613783 semapv:UnspecifiedMatching +GARD:15708 Meier-gorlin syndrome 2 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +GARD:15708 Meier-gorlin syndrome 2 skos:exactMatch OMIM:613800 semapv:UnspecifiedMatching +GARD:15709 Retinitis pigmentosa 40 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15709 Retinitis pigmentosa 40 skos:exactMatch OMIM:613801 semapv:UnspecifiedMatching +GARD:1571 Craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 semapv:UnspecifiedMatching +GARD:1571 Craniofacial-deafness-hand syndrome skos:narrowMatch OMIM:122880 semapv:UnspecifiedMatching +GARD:15710 Meier-gorlin syndrome 3 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +GARD:15710 Meier-gorlin syndrome 3 skos:exactMatch OMIM:613803 semapv:UnspecifiedMatching +GARD:15711 Meier-gorlin syndrome 4 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +GARD:15711 Meier-gorlin syndrome 4 skos:exactMatch OMIM:613804 semapv:UnspecifiedMatching +GARD:15712 Meier-gorlin syndrome 5 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +GARD:15712 Meier-gorlin syndrome 5 skos:exactMatch OMIM:613805 semapv:UnspecifiedMatching +GARD:15713 Ciliary dyskinesia, primary, 14 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15713 Ciliary dyskinesia, primary, 14 skos:exactMatch OMIM:613807 semapv:UnspecifiedMatching +GARD:15714 Ciliary dyskinesia, primary, 15 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15714 Ciliary dyskinesia, primary, 15 skos:exactMatch OMIM:613808 semapv:UnspecifiedMatching +GARD:15715 Retinitis pigmentosa 39 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15715 Retinitis pigmentosa 39 skos:exactMatch OMIM:613809 semapv:UnspecifiedMatching +GARD:15716 Retinitis pigmentosa 43 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15716 Retinitis pigmentosa 43 skos:exactMatch OMIM:613810 semapv:UnspecifiedMatching +GARD:15717 Pontocerebellar hypoplasia, type 2d skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +GARD:15717 Pontocerebellar hypoplasia, type 2d skos:exactMatch OMIM:613811 semapv:UnspecifiedMatching +GARD:15718 Short-rib thoracic dysplasia 4 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:15718 Short-rib thoracic dysplasia 4 with or without polydactyly skos:exactMatch OMIM:613819 semapv:UnspecifiedMatching +GARD:15719 Seckel syndrome 5 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +GARD:15719 Seckel syndrome 5 skos:exactMatch OMIM:613823 semapv:UnspecifiedMatching +GARD:15720 Retinitis pigmentosa 48 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15720 Retinitis pigmentosa 48 skos:exactMatch OMIM:613827 semapv:UnspecifiedMatching +GARD:15721 Night blindness, congenital stationary, type 1d skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15721 Night blindness, congenital stationary, type 1d skos:exactMatch OMIM:613830 semapv:UnspecifiedMatching +GARD:15722 Osteogenesis imperfecta, type xii skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:15722 Osteogenesis imperfecta, type xii skos:exactMatch OMIM:613849 semapv:UnspecifiedMatching +GARD:15723 Achromatopsia 4 skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +GARD:15723 Achromatopsia 4 skos:exactMatch OMIM:613856 semapv:UnspecifiedMatching +GARD:15724 Retinitis pigmentosa 59 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15724 Retinitis pigmentosa 59 skos:exactMatch OMIM:613861 semapv:UnspecifiedMatching +GARD:15725 Retinitis pigmentosa 38 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15725 Retinitis pigmentosa 38 skos:exactMatch OMIM:613862 semapv:UnspecifiedMatching +GARD:15726 Cardiomyopathy, dilated, 1hh skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15726 Cardiomyopathy, dilated, 1hh skos:exactMatch OMIM:613881 semapv:UnspecifiedMatching +GARD:15727 Meckel syndrome, type 8 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:15727 Meckel syndrome, type 8 skos:exactMatch OMIM:613885 semapv:UnspecifiedMatching +GARD:15728 Megalencephalic leukoencephalopathy with subcortical cysts 2a skos:broadMatch Orphanet:2478 semapv:UnspecifiedMatching +GARD:15728 Megalencephalic leukoencephalopathy with subcortical cysts 2a skos:exactMatch OMIM:613925 semapv:UnspecifiedMatching +GARD:15729 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation skos:broadMatch Orphanet:210548 semapv:UnspecifiedMatching +GARD:15729 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation skos:broadMatch Orphanet:2478 semapv:UnspecifiedMatching +GARD:15729 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation skos:exactMatch OMIM:613926 semapv:UnspecifiedMatching +GARD:15730 Alopecia-intellectual disability syndrome 3 skos:broadMatch Orphanet:2850 semapv:UnspecifiedMatching +GARD:15730 Alopecia-intellectual disability syndrome 3 skos:exactMatch OMIM:613930 semapv:UnspecifiedMatching +GARD:15731 Fanconi anemia, complementation group p skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15731 Fanconi anemia, complementation group p skos:exactMatch OMIM:613951 semapv:UnspecifiedMatching +GARD:15732 Immunodeficiency 51 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:15732 Immunodeficiency 51 skos:exactMatch OMIM:613953 semapv:UnspecifiedMatching +GARD:15733 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:15733 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15733 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch OMIM:613954 semapv:UnspecifiedMatching +GARD:15734 Spermatogenic failure 8 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:15734 Spermatogenic failure 8 skos:exactMatch OMIM:613957 semapv:UnspecifiedMatching +GARD:15735 Spermatogenic failure 9 skos:broadMatch Orphanet:171709 semapv:UnspecifiedMatching +GARD:15735 Spermatogenic failure 9 skos:exactMatch OMIM:613958 semapv:UnspecifiedMatching +GARD:15736 Granulomatous disease, chronic, autosomal recessive, 3 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +GARD:15736 Granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch OMIM:613960 semapv:UnspecifiedMatching +GARD:15737 Atrial fibrillation, familial, 9 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15737 Atrial fibrillation, familial, 9 skos:exactMatch OMIM:613980 semapv:UnspecifiedMatching +GARD:15738 Retinitis pigmentosa 60 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15738 Retinitis pigmentosa 60 skos:exactMatch OMIM:613983 semapv:UnspecifiedMatching +GARD:15739 Dyskeratosis congenita, autosomal recessive 2 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:15739 Dyskeratosis congenita, autosomal recessive 2 skos:exactMatch OMIM:613987 semapv:UnspecifiedMatching +GARD:15740 Dyskeratosis congenita, autosomal recessive 3 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:15740 Dyskeratosis congenita, autosomal recessive 3 skos:exactMatch OMIM:613988 semapv:UnspecifiedMatching +GARD:15741 Dyskeratosis congenita, autosomal dominant 2 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:15741 Dyskeratosis congenita, autosomal dominant 2 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +GARD:15741 Dyskeratosis congenita, autosomal dominant 2 skos:exactMatch OMIM:613989 semapv:UnspecifiedMatching +GARD:15742 Dyskeratosis congenita, autosomal dominant 3 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:15742 Dyskeratosis congenita, autosomal dominant 3 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +GARD:15742 Dyskeratosis congenita, autosomal dominant 3 skos:exactMatch OMIM:613990 semapv:UnspecifiedMatching +GARD:15743 Ciliary dyskinesia, primary, 16 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15743 Ciliary dyskinesia, primary, 16 skos:exactMatch OMIM:614017 semapv:UnspecifiedMatching +GARD:15744 Ventricular tachycardia, catecholaminergic polymorphic, 3 skos:broadMatch Orphanet:3286 semapv:UnspecifiedMatching +GARD:15744 Ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch OMIM:614021 semapv:UnspecifiedMatching +GARD:15745 Atrial fibrillation, familial, 10 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15745 Atrial fibrillation, familial, 10 skos:exactMatch OMIM:614022 semapv:UnspecifiedMatching +GARD:15746 Moyamoya disease 5 skos:broadMatch Orphanet:2573 semapv:UnspecifiedMatching +GARD:15746 Moyamoya disease 5 skos:exactMatch OMIM:614042 semapv:UnspecifiedMatching +GARD:15747 Atrial fibrillation, familial, 11 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15747 Atrial fibrillation, familial, 11 skos:exactMatch OMIM:614049 semapv:UnspecifiedMatching +GARD:15748 Atrial fibrillation, familial, 12 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15748 Atrial fibrillation, familial, 12 skos:exactMatch OMIM:614050 semapv:UnspecifiedMatching +GARD:15749 Spastic paraplegia 47, autosomal recessive skos:broadMatch Orphanet:280763 semapv:UnspecifiedMatching +GARD:15749 Spastic paraplegia 47, autosomal recessive skos:exactMatch OMIM:614066 semapv:UnspecifiedMatching +GARD:1575 Non-syndromic bilambdoid and sagittal craniosynostosis skos:exactMatch Orphanet:1516 semapv:UnspecifiedMatching +GARD:1575 Non-syndromic bilambdoid and sagittal craniosynostosis skos:narrowMatch OMIM:218350 semapv:UnspecifiedMatching +GARD:15750 Spastic paraplegia 52, autosomal recessive skos:broadMatch Orphanet:280763 semapv:UnspecifiedMatching +GARD:15750 Spastic paraplegia 52, autosomal recessive skos:exactMatch OMIM:614067 semapv:UnspecifiedMatching +GARD:15751 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:broadMatch Orphanet:2268 semapv:UnspecifiedMatching +GARD:15751 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch OMIM:614069 semapv:UnspecifiedMatching +GARD:15752 Aspergillosis, susceptibility to skos:broadMatch Orphanet:1163 semapv:UnspecifiedMatching +GARD:15752 Aspergillosis, susceptibility to skos:exactMatch OMIM:614079 semapv:UnspecifiedMatching +GARD:15753 Fanconi anemia, complementation group g skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15753 Fanconi anemia, complementation group g skos:exactMatch OMIM:614082 semapv:UnspecifiedMatching +GARD:15754 Fanconi anemia, complementation group l skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15754 Fanconi anemia, complementation group l skos:exactMatch OMIM:614083 semapv:UnspecifiedMatching +GARD:15755 Atrial septal defect 3 skos:broadMatch Orphanet:99103 semapv:UnspecifiedMatching +GARD:15755 Atrial septal defect 3 skos:exactMatch OMIM:614089 semapv:UnspecifiedMatching +GARD:15756 Short-rib thoracic dysplasia 7 with or without polydactyly skos:broadMatch Orphanet:93271 semapv:UnspecifiedMatching +GARD:15756 Short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch OMIM:614091 semapv:UnspecifiedMatching +GARD:15757 Cranioectodermal dysplasia 3 skos:broadMatch Orphanet:1515 semapv:UnspecifiedMatching +GARD:15757 Cranioectodermal dysplasia 3 skos:exactMatch OMIM:614099 semapv:UnspecifiedMatching +GARD:15758 Mosaic variegated aneuploidy syndrome 2 skos:broadMatch Orphanet:1052 semapv:UnspecifiedMatching +GARD:15758 Mosaic variegated aneuploidy syndrome 2 skos:exactMatch OMIM:614114 semapv:UnspecifiedMatching +GARD:15759 Hydrolethalus syndrome 2 skos:broadMatch Orphanet:2189 semapv:UnspecifiedMatching +GARD:15759 Hydrolethalus syndrome 2 skos:exactMatch OMIM:614120 semapv:UnspecifiedMatching +GARD:15760 Perrault syndrome 3 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +GARD:15760 Perrault syndrome 3 skos:exactMatch OMIM:614129 semapv:UnspecifiedMatching +GARD:15761 Focal segmental glomerulosclerosis 6 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15761 Focal segmental glomerulosclerosis 6 skos:exactMatch OMIM:614131 semapv:UnspecifiedMatching +GARD:15762 Nail disorder, nonsyndromic congenital, 9 skos:broadMatch Orphanet:90390 semapv:UnspecifiedMatching +GARD:15762 Nail disorder, nonsyndromic congenital, 9 skos:exactMatch OMIM:614149 semapv:UnspecifiedMatching +GARD:15763 Paragangliomas 5 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:15763 Paragangliomas 5 skos:exactMatch OMIM:614165 semapv:UnspecifiedMatching +GARD:15764 Brittle cornea syndrome 2 skos:broadMatch Orphanet:90354 semapv:UnspecifiedMatching +GARD:15764 Brittle cornea syndrome 2 skos:exactMatch OMIM:614170 semapv:UnspecifiedMatching +GARD:15765 Joubert syndrome 13 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:15765 Joubert syndrome 13 skos:exactMatch OMIM:614173 semapv:UnspecifiedMatching +GARD:15766 Retinitis pigmentosa 61 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15766 Retinitis pigmentosa 61 skos:exactMatch OMIM:614180 semapv:UnspecifiedMatching +GARD:15767 Retinitis pigmentosa 62 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15767 Retinitis pigmentosa 62 skos:exactMatch OMIM:614181 semapv:UnspecifiedMatching +GARD:15768 Geleophysic dysplasia 2 skos:broadMatch Orphanet:2623 semapv:UnspecifiedMatching +GARD:15768 Geleophysic dysplasia 2 skos:exactMatch OMIM:614185 semapv:UnspecifiedMatching +GARD:15769 Pigmented nodular adrenocortical disease, primary, 3 skos:broadMatch Orphanet:189439 semapv:UnspecifiedMatching +GARD:15769 Pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch OMIM:614190 semapv:UnspecifiedMatching +GARD:15770 Nephrotic syndrome, type 6 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15770 Nephrotic syndrome, type 6 skos:exactMatch OMIM:614196 semapv:UnspecifiedMatching +GARD:15771 Myasthenic syndrome, congenital, 16 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:15771 Myasthenic syndrome, congenital, 16 skos:exactMatch OMIM:614198 semapv:UnspecifiedMatching +GARD:15772 Three m syndrome 3 skos:broadMatch Orphanet:2616 semapv:UnspecifiedMatching +GARD:15772 Three m syndrome 3 skos:exactMatch OMIM:614205 semapv:UnspecifiedMatching +GARD:15773 Meckel syndrome, type 9 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:15773 Meckel syndrome, type 9 skos:exactMatch OMIM:614209 semapv:UnspecifiedMatching +GARD:15774 Neuropathy, hereditary sensory, type iic skos:broadMatch Orphanet:970 semapv:UnspecifiedMatching +GARD:15774 Neuropathy, hereditary sensory, type iic skos:exactMatch OMIM:614213 semapv:UnspecifiedMatching +GARD:15775 Adams-oliver syndrome 2 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +GARD:15775 Adams-oliver syndrome 2 skos:exactMatch OMIM:614219 semapv:UnspecifiedMatching +GARD:15776 Biliary cirrhosis, primary, 4 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +GARD:15776 Biliary cirrhosis, primary, 4 skos:exactMatch OMIM:614220 semapv:UnspecifiedMatching +GARD:15777 Biliary cirrhosis, primary, 5 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +GARD:15777 Biliary cirrhosis, primary, 5 skos:exactMatch OMIM:614221 semapv:UnspecifiedMatching +GARD:15778 Warburg micro syndrome 3 skos:broadMatch Orphanet:2510 semapv:UnspecifiedMatching +GARD:15778 Warburg micro syndrome 3 skos:exactMatch OMIM:614222 semapv:UnspecifiedMatching +GARD:15779 Narcolepsy 6, susceptibility to skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +GARD:15779 Narcolepsy 6, susceptibility to skos:exactMatch OMIM:614223 semapv:UnspecifiedMatching +GARD:1578 Craniofrontonasal dysplasia skos:exactMatch Orphanet:1520 semapv:UnspecifiedMatching +GARD:1578 Craniofrontonasal dysplasia skos:narrowMatch OMIM:304110 semapv:UnspecifiedMatching +GARD:15780 Warburg micro syndrome 2 skos:broadMatch Orphanet:2510 semapv:UnspecifiedMatching +GARD:15780 Warburg micro syndrome 2 skos:exactMatch OMIM:614225 semapv:UnspecifiedMatching +GARD:15781 Hypotrichosis 9 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:15781 Hypotrichosis 9 skos:exactMatch OMIM:614237 semapv:UnspecifiedMatching +GARD:15782 Hypotrichosis 10 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:15782 Hypotrichosis 10 skos:exactMatch OMIM:614238 semapv:UnspecifiedMatching +GARD:15783 Narcolepsy 7 skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +GARD:15783 Narcolepsy 7 skos:exactMatch OMIM:614250 semapv:UnspecifiedMatching +GARD:15784 Epilepsy, juvenile myoclonic, susceptibility to, 9 skos:broadMatch Orphanet:307 semapv:UnspecifiedMatching +GARD:15784 Epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch OMIM:614280 semapv:UnspecifiedMatching +GARD:15785 Breast-ovarian cancer, familial, susceptibility to, 4 skos:broadMatch Orphanet:145 semapv:UnspecifiedMatching +GARD:15785 Breast-ovarian cancer, familial, susceptibility to, 4 skos:exactMatch OMIM:614291 semapv:UnspecifiedMatching +GARD:15786 Sclerosteosis 2 skos:broadMatch Orphanet:3152 semapv:UnspecifiedMatching +GARD:15786 Sclerosteosis 2 skos:exactMatch OMIM:614305 semapv:UnspecifiedMatching +GARD:15787 Alpha-methylacyl-coa racemase deficiency skos:broadMatch Orphanet:79095 semapv:UnspecifiedMatching +GARD:15787 Alpha-methylacyl-coa racemase deficiency skos:exactMatch OMIM:614307 semapv:UnspecifiedMatching +GARD:15788 Pancreatic cancer, susceptibility to, 4 skos:broadMatch Orphanet:1333 semapv:UnspecifiedMatching +GARD:15788 Pancreatic cancer, susceptibility to, 4 skos:exactMatch OMIM:614320 semapv:UnspecifiedMatching +GARD:15789 Colorectal cancer, hereditary nonpolyposis, type 6 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +GARD:15789 Colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch OMIM:614331 semapv:UnspecifiedMatching +GARD:15790 Arthrogryposis, distal, type 1b skos:broadMatch Orphanet:1146 semapv:UnspecifiedMatching +GARD:15790 Arthrogryposis, distal, type 1b skos:exactMatch OMIM:614335 semapv:UnspecifiedMatching +GARD:15791 Colorectal cancer, hereditary nonpolyposis, type 4 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +GARD:15791 Colorectal cancer, hereditary nonpolyposis, type 4 skos:exactMatch OMIM:614337 semapv:UnspecifiedMatching +GARD:15792 Colorectal cancer, hereditary nonpolyposis, type 5 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +GARD:15792 Colorectal cancer, hereditary nonpolyposis, type 5 skos:exactMatch OMIM:614350 semapv:UnspecifiedMatching +GARD:15793 Surfactant metabolism dysfunction, pulmonary, 5 skos:broadMatch Orphanet:264675 semapv:UnspecifiedMatching +GARD:15793 Surfactant metabolism dysfunction, pulmonary, 5 skos:exactMatch OMIM:614370 semapv:UnspecifiedMatching +GARD:15794 Amyotrophic lateral sclerosis 16, juvenile skos:broadMatch Orphanet:300605 semapv:UnspecifiedMatching +GARD:15794 Amyotrophic lateral sclerosis 16, juvenile skos:exactMatch OMIM:614373 semapv:UnspecifiedMatching +GARD:15795 Short-rib thoracic dysplasia 5 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:15795 Short-rib thoracic dysplasia 5 with or without polydactyly skos:exactMatch OMIM:614376 semapv:UnspecifiedMatching +GARD:15796 Cranioectodermal dysplasia 4 skos:broadMatch Orphanet:1515 semapv:UnspecifiedMatching +GARD:15796 Cranioectodermal dysplasia 4 skos:exactMatch OMIM:614378 semapv:UnspecifiedMatching +GARD:15797 Complement component 4b deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +GARD:15797 Complement component 4b deficiency skos:exactMatch OMIM:614379 semapv:UnspecifiedMatching +GARD:15798 Complement component 4a deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +GARD:15798 Complement component 4a deficiency skos:exactMatch OMIM:614380 semapv:UnspecifiedMatching +GARD:15799 Colorectal cancer, hereditary nonpolyposis, type 7 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +GARD:15799 Colorectal cancer, hereditary nonpolyposis, type 7 skos:exactMatch OMIM:614385 semapv:UnspecifiedMatching +GARD:158 Sarcosinemia skos:exactMatch Orphanet:3129 semapv:UnspecifiedMatching +GARD:158 Sarcosinemia skos:narrowMatch OMIM:268900 semapv:UnspecifiedMatching +GARD:15800 Cataract 37 skos:broadMatch Orphanet:98989 semapv:UnspecifiedMatching +GARD:15800 Cataract 37 skos:exactMatch OMIM:614422 semapv:UnspecifiedMatching +GARD:15801 Joubert syndrome 14 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +GARD:15801 Joubert syndrome 14 skos:broadMatch Orphanet:220497 semapv:UnspecifiedMatching +GARD:15801 Joubert syndrome 14 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +GARD:15801 Joubert syndrome 14 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:15801 Joubert syndrome 14 skos:exactMatch OMIM:614424 semapv:UnspecifiedMatching +GARD:15802 Cutis laxa, autosomal dominant 2 skos:broadMatch Orphanet:90348 semapv:UnspecifiedMatching +GARD:15802 Cutis laxa, autosomal dominant 2 skos:exactMatch OMIM:614434 semapv:UnspecifiedMatching +GARD:15803 Hypoplastic left heart syndrome 2 skos:broadMatch Orphanet:2248 semapv:UnspecifiedMatching +GARD:15803 Hypoplastic left heart syndrome 2 skos:exactMatch OMIM:614435 semapv:UnspecifiedMatching +GARD:15804 Cutis laxa, autosomal recessive, type ib skos:broadMatch Orphanet:90349 semapv:UnspecifiedMatching +GARD:15804 Cutis laxa, autosomal recessive, type ib skos:exactMatch OMIM:614437 semapv:UnspecifiedMatching +GARD:15805 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:broadMatch Orphanet:2796 semapv:UnspecifiedMatching +GARD:15805 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:exactMatch OMIM:614441 semapv:UnspecifiedMatching +GARD:15806 Joubert syndrome 15 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +GARD:15806 Joubert syndrome 15 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:15806 Joubert syndrome 15 skos:exactMatch OMIM:614464 semapv:UnspecifiedMatching +GARD:15807 Joubert syndrome 16 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +GARD:15807 Joubert syndrome 16 skos:exactMatch OMIM:614465 semapv:UnspecifiedMatching +GARD:15808 Brain small vessel disease 2 skos:broadMatch Orphanet:99810 semapv:UnspecifiedMatching +GARD:15808 Brain small vessel disease 2 skos:exactMatch OMIM:614483 semapv:UnspecifiedMatching +GARD:15809 Wiskott-aldrich syndrome 2 skos:broadMatch Orphanet:906 semapv:UnspecifiedMatching +GARD:15809 Wiskott-aldrich syndrome 2 skos:exactMatch OMIM:614493 semapv:UnspecifiedMatching +GARD:1581 Craniometaphyseal dysplasia, autosomal dominant skos:broadMatch Orphanet:1522 semapv:UnspecifiedMatching +GARD:1581 Craniometaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:123000 semapv:UnspecifiedMatching +GARD:15810 Retinitis pigmentosa 63 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15810 Retinitis pigmentosa 63 skos:exactMatch OMIM:614494 semapv:UnspecifiedMatching +GARD:15811 Microphthalmia, isolated, with coloboma 7 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:15811 Microphthalmia, isolated, with coloboma 7 skos:exactMatch OMIM:614497 semapv:UnspecifiedMatching +GARD:15812 Cone-rod dystrophy 16 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15812 Cone-rod dystrophy 16 skos:exactMatch OMIM:614500 semapv:UnspecifiedMatching +GARD:15813 Usher syndrome, type iiib skos:broadMatch Orphanet:231183 semapv:UnspecifiedMatching +GARD:15813 Usher syndrome, type iiib skos:exactMatch OMIM:614504 semapv:UnspecifiedMatching +GARD:15814 Mirror movements 2 skos:broadMatch Orphanet:238722 semapv:UnspecifiedMatching +GARD:15814 Mirror movements 2 skos:exactMatch OMIM:614508 semapv:UnspecifiedMatching +GARD:15815 Fibrochondrogenesis 2 skos:broadMatch Orphanet:2021 semapv:UnspecifiedMatching +GARD:15815 Fibrochondrogenesis 2 skos:exactMatch OMIM:614524 semapv:UnspecifiedMatching +GARD:15816 Night blindness, congenital stationary, type 1e skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15816 Night blindness, congenital stationary, type 1e skos:exactMatch OMIM:614565 semapv:UnspecifiedMatching +GARD:15817 Baraitser-winter syndrome 2 skos:broadMatch Orphanet:2995 semapv:UnspecifiedMatching +GARD:15817 Baraitser-winter syndrome 2 skos:exactMatch OMIM:614583 semapv:UnspecifiedMatching +GARD:15818 Olmsted syndrome 1 skos:broadMatch Orphanet:659 semapv:UnspecifiedMatching +GARD:15818 Olmsted syndrome 1 skos:exactMatch OMIM:614594 semapv:UnspecifiedMatching +GARD:15819 Trichohepatoenteric syndrome 2 skos:broadMatch Orphanet:84064 semapv:UnspecifiedMatching +GARD:15819 Trichohepatoenteric syndrome 2 skos:exactMatch OMIM:614602 semapv:UnspecifiedMatching +GARD:1582 Craniometaphyseal dysplasia, autosomal recessive skos:broadMatch Orphanet:1522 semapv:UnspecifiedMatching +GARD:1582 Craniometaphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:218400 semapv:UnspecifiedMatching +GARD:15820 Coffin-siris syndrome 2 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:15820 Coffin-siris syndrome 2 skos:exactMatch OMIM:614607 semapv:UnspecifiedMatching +GARD:15821 Coffin-siris syndrome 3 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:15821 Coffin-siris syndrome 3 skos:exactMatch OMIM:614608 semapv:UnspecifiedMatching +GARD:15822 Coffin-siris syndrome 4 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:15822 Coffin-siris syndrome 4 skos:exactMatch OMIM:614609 semapv:UnspecifiedMatching +GARD:15823 Acrodysostosis 2 with or without hormone resistance skos:broadMatch Orphanet:280651 semapv:UnspecifiedMatching +GARD:15823 Acrodysostosis 2 with or without hormone resistance skos:broadMatch Orphanet:950 semapv:UnspecifiedMatching +GARD:15823 Acrodysostosis 2 with or without hormone resistance skos:exactMatch OMIM:614613 semapv:UnspecifiedMatching +GARD:15824 Joubert syndrome 17 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:15824 Joubert syndrome 17 skos:exactMatch OMIM:614615 semapv:UnspecifiedMatching +GARD:15825 Hyperekplexia 3 skos:broadMatch Orphanet:3197 semapv:UnspecifiedMatching +GARD:15825 Hyperekplexia 3 skos:exactMatch OMIM:614618 semapv:UnspecifiedMatching +GARD:15826 Hyperekplexia 2 skos:broadMatch Orphanet:3197 semapv:UnspecifiedMatching +GARD:15826 Hyperekplexia 2 skos:exactMatch OMIM:614619 semapv:UnspecifiedMatching +GARD:15827 Uv-sensitive syndrome 2 skos:broadMatch Orphanet:178338 semapv:UnspecifiedMatching +GARD:15827 Uv-sensitive syndrome 2 skos:exactMatch OMIM:614621 semapv:UnspecifiedMatching +GARD:15828 Uv-sensitive syndrome 3 skos:broadMatch Orphanet:178338 semapv:UnspecifiedMatching +GARD:15828 Uv-sensitive syndrome 3 skos:exactMatch OMIM:614640 semapv:UnspecifiedMatching +GARD:15829 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15829 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:exactMatch OMIM:614643 semapv:UnspecifiedMatching +GARD:1583 Craniomicromelic syndrome skos:exactMatch Orphanet:1524 semapv:UnspecifiedMatching +GARD:1583 Craniomicromelic syndrome skos:narrowMatch OMIM:602558 semapv:UnspecifiedMatching +GARD:15830 Cortisone reductase deficiency 2 skos:broadMatch Orphanet:168588 semapv:UnspecifiedMatching +GARD:15830 Cortisone reductase deficiency 2 skos:exactMatch OMIM:614662 semapv:UnspecifiedMatching +GARD:15831 Auriculocondylar syndrome 2 skos:broadMatch Orphanet:137888 semapv:UnspecifiedMatching +GARD:15831 Auriculocondylar syndrome 2 skos:exactMatch OMIM:614669 semapv:UnspecifiedMatching +GARD:15832 Cardiomyopathy, dilated, 2b skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15832 Cardiomyopathy, dilated, 2b skos:exactMatch OMIM:614672 semapv:UnspecifiedMatching +GARD:15833 Microcephaly 8, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15833 Microcephaly 8, primary, autosomal recessive skos:exactMatch OMIM:614673 semapv:UnspecifiedMatching +GARD:15834 Pontocerebellar hypoplasia, type 1b skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +GARD:15834 Pontocerebellar hypoplasia, type 1b skos:exactMatch OMIM:614678 semapv:UnspecifiedMatching +GARD:15835 Ciliary dyskinesia, primary, 17 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15835 Ciliary dyskinesia, primary, 17 skos:exactMatch OMIM:614679 semapv:UnspecifiedMatching +GARD:15836 Immunodeficiency, common variable, 7 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:15836 Immunodeficiency, common variable, 7 skos:exactMatch OMIM:614699 semapv:UnspecifiedMatching +GARD:15837 Cornelia de lange syndrome 4 with or without midline brain defects skos:broadMatch Orphanet:199 semapv:UnspecifiedMatching +GARD:15837 Cornelia de lange syndrome 4 with or without midline brain defects skos:exactMatch OMIM:614701 semapv:UnspecifiedMatching +GARD:15838 Porokeratosis 7, multiple types skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +GARD:15838 Porokeratosis 7, multiple types skos:exactMatch OMIM:614714 semapv:UnspecifiedMatching +GARD:15839 Prostate cancer, hereditary, 2 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:15839 Prostate cancer, hereditary, 2 skos:exactMatch OMIM:614731 semapv:UnspecifiedMatching +GARD:15840 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +GARD:15840 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency skos:exactMatch OMIM:614736 semapv:UnspecifiedMatching +GARD:15841 Amyotrophic lateral sclerosis 18 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15841 Amyotrophic lateral sclerosis 18 skos:exactMatch OMIM:614808 semapv:UnspecifiedMatching +GARD:15842 Adams-oliver syndrome 3 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +GARD:15842 Adams-oliver syndrome 3 skos:exactMatch OMIM:614814 semapv:UnspecifiedMatching +GARD:15843 Joubert syndrome 18 skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +GARD:15843 Joubert syndrome 18 skos:exactMatch OMIM:614815 semapv:UnspecifiedMatching +GARD:15844 Weill-marchesani syndrome 3 skos:broadMatch Orphanet:3449 semapv:UnspecifiedMatching +GARD:15844 Weill-marchesani syndrome 3 skos:exactMatch OMIM:614819 semapv:UnspecifiedMatching +GARD:15845 Alternating hemiplegia of childhood 2 skos:broadMatch Orphanet:2131 semapv:UnspecifiedMatching +GARD:15845 Alternating hemiplegia of childhood 2 skos:exactMatch OMIM:614820 semapv:UnspecifiedMatching +GARD:15846 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15846 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:exactMatch OMIM:614830 semapv:UnspecifiedMatching +GARD:15847 Amelogenesis imperfecta, hypomaturation type, iia4 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +GARD:15847 Amelogenesis imperfecta, hypomaturation type, iia4 skos:exactMatch OMIM:614832 semapv:UnspecifiedMatching +GARD:15848 Thyrotoxic periodic paralysis, susceptibility to, 3 skos:broadMatch Orphanet:79102 semapv:UnspecifiedMatching +GARD:15848 Thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch OMIM:614834 semapv:UnspecifiedMatching +GARD:15849 Hypogonadotropic hypogonadism 8 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:15849 Hypogonadotropic hypogonadism 8 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15849 Hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch OMIM:614837 semapv:UnspecifiedMatching +GARD:15850 Hypogonadotropic hypogonadism 9 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:15850 Hypogonadotropic hypogonadism 9 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15850 Hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch OMIM:614838 semapv:UnspecifiedMatching +GARD:15851 Hypogonadotropic hypogonadism 11 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:15851 Hypogonadotropic hypogonadism 11 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15851 Hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch OMIM:614840 semapv:UnspecifiedMatching +GARD:15852 Nephronophthisis 15 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:15852 Nephronophthisis 15 skos:exactMatch OMIM:614845 semapv:UnspecifiedMatching +GARD:15853 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +GARD:15853 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 skos:exactMatch OMIM:614849 semapv:UnspecifiedMatching +GARD:15854 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +GARD:15854 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 skos:exactMatch OMIM:614850 semapv:UnspecifiedMatching +GARD:15855 Microcephaly 9, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:15855 Microcephaly 9, primary, autosomal recessive skos:exactMatch OMIM:614852 semapv:UnspecifiedMatching +GARD:15856 Osteogenesis imperfecta, type xiii skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:15856 Osteogenesis imperfecta, type xiii skos:exactMatch OMIM:614856 semapv:UnspecifiedMatching +GARD:15857 Hypogonadotropic hypogonadism 14 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:15857 Hypogonadotropic hypogonadism 14 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15857 Hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch OMIM:614858 semapv:UnspecifiedMatching +GARD:15858 Peroxisome biogenesis disorder 3a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15858 Peroxisome biogenesis disorder 3a (zellweger) skos:exactMatch OMIM:614859 semapv:UnspecifiedMatching +GARD:15859 Peroxisome biogenesis disorder 4a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15859 Peroxisome biogenesis disorder 4a (zellweger) skos:exactMatch OMIM:614862 semapv:UnspecifiedMatching +GARD:15860 Peroxisome biogenesis disorder 4b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15860 Peroxisome biogenesis disorder 4b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15860 Peroxisome biogenesis disorder 4b skos:exactMatch OMIM:614863 semapv:UnspecifiedMatching +GARD:15861 Peroxisome biogenesis disorder 5a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15861 Peroxisome biogenesis disorder 5a (zellweger) skos:exactMatch OMIM:614866 semapv:UnspecifiedMatching +GARD:15862 Peroxisome biogenesis disorder 5b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15862 Peroxisome biogenesis disorder 5b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15862 Peroxisome biogenesis disorder 5b skos:exactMatch OMIM:614867 semapv:UnspecifiedMatching +GARD:15863 Usher syndrome, type ij skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:15863 Usher syndrome, type ij skos:exactMatch OMIM:614869 semapv:UnspecifiedMatching +GARD:15864 Peroxisome biogenesis disorder 6a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15864 Peroxisome biogenesis disorder 6a (zellweger) skos:exactMatch OMIM:614870 semapv:UnspecifiedMatching +GARD:15865 Peroxisome biogenesis disorder 6b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15865 Peroxisome biogenesis disorder 6b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15865 Peroxisome biogenesis disorder 6b skos:exactMatch OMIM:614871 semapv:UnspecifiedMatching +GARD:15866 Peroxisome biogenesis disorder 7a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15866 Peroxisome biogenesis disorder 7a (zellweger) skos:exactMatch OMIM:614872 semapv:UnspecifiedMatching +GARD:15867 Peroxisome biogenesis disorder 7b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15867 Peroxisome biogenesis disorder 7b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15867 Peroxisome biogenesis disorder 7b skos:exactMatch OMIM:614873 semapv:UnspecifiedMatching +GARD:15868 Ciliary dyskinesia, primary, 18 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15868 Ciliary dyskinesia, primary, 18 skos:exactMatch OMIM:614874 semapv:UnspecifiedMatching +GARD:15869 Peroxisome biogenesis disorder 8a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15869 Peroxisome biogenesis disorder 8a (zellweger) skos:exactMatch OMIM:614876 semapv:UnspecifiedMatching +GARD:15870 Peroxisome biogenesis disorder 8b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15870 Peroxisome biogenesis disorder 8b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15870 Peroxisome biogenesis disorder 8b skos:exactMatch OMIM:614877 semapv:UnspecifiedMatching +GARD:15871 Peroxisome biogenesis disorder 9b skos:broadMatch Orphanet:773 semapv:UnspecifiedMatching +GARD:15871 Peroxisome biogenesis disorder 9b skos:exactMatch OMIM:614879 semapv:UnspecifiedMatching +GARD:15872 Hypogonadotropic hypogonadism 15 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:15872 Hypogonadotropic hypogonadism 15 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15872 Hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch OMIM:614880 semapv:UnspecifiedMatching +GARD:15873 Peroxisome biogenesis disorder 10a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15873 Peroxisome biogenesis disorder 10a (zellweger) skos:exactMatch OMIM:614882 semapv:UnspecifiedMatching +GARD:15874 Peroxisome biogenesis disorder 11a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15874 Peroxisome biogenesis disorder 11a (zellweger) skos:exactMatch OMIM:614883 semapv:UnspecifiedMatching +GARD:15875 Peroxisome biogenesis disorder 11b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15875 Peroxisome biogenesis disorder 11b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15875 Peroxisome biogenesis disorder 11b skos:exactMatch OMIM:614885 semapv:UnspecifiedMatching +GARD:15876 Peroxisome biogenesis disorder 12a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15876 Peroxisome biogenesis disorder 12a (zellweger) skos:exactMatch OMIM:614886 semapv:UnspecifiedMatching +GARD:15877 Peroxisome biogenesis disorder 13a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:15877 Peroxisome biogenesis disorder 13a (zellweger) skos:exactMatch OMIM:614887 semapv:UnspecifiedMatching +GARD:15878 Hypogonadotropic hypogonadism 16 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15878 Hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch OMIM:614897 semapv:UnspecifiedMatching +GARD:15879 Diamond-blackfan anemia 11 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15879 Diamond-blackfan anemia 11 skos:exactMatch OMIM:614900 semapv:UnspecifiedMatching +GARD:15880 Ventricular tachycardia, catecholaminergic polymorphic, 4 skos:broadMatch Orphanet:3286 semapv:UnspecifiedMatching +GARD:15880 Ventricular tachycardia, catecholaminergic polymorphic, 4 skos:exactMatch OMIM:614916 semapv:UnspecifiedMatching +GARD:15881 Peroxisome biogenesis disorder 14b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:15881 Peroxisome biogenesis disorder 14b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:15881 Peroxisome biogenesis disorder 14b skos:exactMatch OMIM:614920 semapv:UnspecifiedMatching +GARD:15882 Perrault syndrome 2 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +GARD:15882 Perrault syndrome 2 skos:exactMatch OMIM:614926 semapv:UnspecifiedMatching +GARD:15883 Ciliary dyskinesia, primary, 19 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15883 Ciliary dyskinesia, primary, 19 skos:exactMatch OMIM:614935 semapv:UnspecifiedMatching +GARD:15884 Palmoplantar keratoderma, punctate type ib skos:broadMatch Orphanet:79501 semapv:UnspecifiedMatching +GARD:15884 Palmoplantar keratoderma, punctate type ib skos:exactMatch OMIM:614936 semapv:UnspecifiedMatching +GARD:15885 Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive skos:broadMatch Orphanet:248 semapv:UnspecifiedMatching +GARD:15885 Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:614941 semapv:UnspecifiedMatching +GARD:15886 Developmental and epileptic encephalopathy 14 skos:broadMatch Orphanet:293181 semapv:UnspecifiedMatching +GARD:15886 Developmental and epileptic encephalopathy 14 skos:exactMatch OMIM:614959 semapv:UnspecifiedMatching +GARD:15887 Joubert syndrome 20 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +GARD:15887 Joubert syndrome 20 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:15887 Joubert syndrome 20 skos:exactMatch OMIM:614970 semapv:UnspecifiedMatching +GARD:15888 Cholestasis, intrahepatic, of pregnancy 3 skos:broadMatch Orphanet:69665 semapv:UnspecifiedMatching +GARD:15888 Cholestasis, intrahepatic, of pregnancy 3 skos:exactMatch OMIM:614972 semapv:UnspecifiedMatching +GARD:15889 Carpenter syndrome 2 skos:broadMatch Orphanet:65759 semapv:UnspecifiedMatching +GARD:15889 Carpenter syndrome 2 skos:exactMatch OMIM:614976 semapv:UnspecifiedMatching +GARD:15890 Usher syndrome, type ik skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:15890 Usher syndrome, type ik skos:exactMatch OMIM:614990 semapv:UnspecifiedMatching +GARD:15891 Epilepsy, nocturnal frontal lobe, 5 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +GARD:15891 Epilepsy, nocturnal frontal lobe, 5 skos:exactMatch OMIM:615005 semapv:UnspecifiedMatching +GARD:15892 Developmental and epileptic encephalopathy 15 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:15892 Developmental and epileptic encephalopathy 15 skos:exactMatch OMIM:615006 semapv:UnspecifiedMatching +GARD:15893 Basal ganglia calcification, idiopathic, 4 skos:broadMatch Orphanet:1980 semapv:UnspecifiedMatching +GARD:15893 Basal ganglia calcification, idiopathic, 4 skos:exactMatch OMIM:615007 semapv:UnspecifiedMatching +GARD:15894 Aicardi-goutieres syndrome 6 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:15894 Aicardi-goutieres syndrome 6 skos:exactMatch OMIM:615010 semapv:UnspecifiedMatching +GARD:15895 Ichthyosis, congenital, autosomal recessive 7 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +GARD:15895 Ichthyosis, congenital, autosomal recessive 7 skos:exactMatch OMIM:615022 semapv:UnspecifiedMatching +GARD:15896 Ichthyosis, congenital, autosomal recessive 9 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +GARD:15896 Ichthyosis, congenital, autosomal recessive 9 skos:exactMatch OMIM:615023 semapv:UnspecifiedMatching +GARD:15897 Ichthyosis, congenital, autosomal recessive 10 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +GARD:15897 Ichthyosis, congenital, autosomal recessive 10 skos:exactMatch OMIM:615024 semapv:UnspecifiedMatching +GARD:15898 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15898 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:exactMatch OMIM:615041 semapv:UnspecifiedMatching +GARD:15899 Night blindness, congenital stationary, type 1f skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:15899 Night blindness, congenital stationary, type 1f skos:exactMatch OMIM:615058 semapv:UnspecifiedMatching +GARD:159 Scalp-ear-nipple syndrome skos:exactMatch Orphanet:2036 semapv:UnspecifiedMatching +GARD:159 Scalp-ear-nipple syndrome skos:narrowMatch OMIM:181270 semapv:UnspecifiedMatching +GARD:15900 Hypotrichosis 11 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:15900 Hypotrichosis 11 skos:exactMatch OMIM:615059 semapv:UnspecifiedMatching +GARD:15901 Osteogenesis imperfecta, type xiv skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:15901 Osteogenesis imperfecta, type xiv skos:exactMatch OMIM:615066 semapv:UnspecifiedMatching +GARD:15902 Ciliary dyskinesia, primary, 20 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15902 Ciliary dyskinesia, primary, 20 skos:exactMatch OMIM:615067 semapv:UnspecifiedMatching +GARD:15903 Brachydactyly, type a1, c skos:broadMatch Orphanet:93388 semapv:UnspecifiedMatching +GARD:15903 Brachydactyly, type a1, c skos:exactMatch OMIM:615072 semapv:UnspecifiedMatching +GARD:15904 Spermatogenic failure 11 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:15904 Spermatogenic failure 11 skos:exactMatch OMIM:615081 semapv:UnspecifiedMatching +GARD:15905 Osteopetrosis, autosomal recessive 8 skos:broadMatch Orphanet:667 semapv:UnspecifiedMatching +GARD:15905 Osteopetrosis, autosomal recessive 8 skos:exactMatch OMIM:615085 semapv:UnspecifiedMatching +GARD:15906 Left ventricular noncompaction 7 skos:broadMatch Orphanet:54260 semapv:UnspecifiedMatching +GARD:15906 Left ventricular noncompaction 7 skos:exactMatch OMIM:615092 semapv:UnspecifiedMatching +GARD:15907 Urofacial syndrome 2 skos:broadMatch Orphanet:2704 semapv:UnspecifiedMatching +GARD:15907 Urofacial syndrome 2 skos:exactMatch OMIM:615112 semapv:UnspecifiedMatching +GARD:15908 Myasthenic syndrome, congenital, 8 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:15908 Myasthenic syndrome, congenital, 8 skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:15908 Myasthenic syndrome, congenital, 8 skos:exactMatch OMIM:615120 semapv:UnspecifiedMatching +GARD:15909 Microphthalmia, isolated, with coloboma 9 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:15909 Microphthalmia, isolated, with coloboma 9 skos:exactMatch OMIM:615145 semapv:UnspecifiedMatching +GARD:15910 Mitochondrial complex iii deficiency, nuclear type 2 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:15910 Mitochondrial complex iii deficiency, nuclear type 2 skos:exactMatch OMIM:615157 semapv:UnspecifiedMatching +GARD:15911 Mitochondrial complex iii deficiency, nuclear type 3 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:15911 Mitochondrial complex iii deficiency, nuclear type 3 skos:exactMatch OMIM:615158 semapv:UnspecifiedMatching +GARD:15912 Mitochondrial complex iii deficiency, nuclear type 4 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:15912 Mitochondrial complex iii deficiency, nuclear type 4 skos:exactMatch OMIM:615159 semapv:UnspecifiedMatching +GARD:15913 Mitochondrial complex iii deficiency, nuclear type 5 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:15913 Mitochondrial complex iii deficiency, nuclear type 5 skos:exactMatch OMIM:615160 semapv:UnspecifiedMatching +GARD:15914 Cone-rod dystrophy 17 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15914 Cone-rod dystrophy 17 skos:exactMatch OMIM:615163 semapv:UnspecifiedMatching +GARD:15915 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +GARD:15915 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15915 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:exactMatch OMIM:615181 semapv:UnspecifiedMatching +GARD:15916 Cardiomyopathy, dilated, 1ii skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15916 Cardiomyopathy, dilated, 1ii skos:exactMatch OMIM:615184 semapv:UnspecifiedMatching +GARD:15917 Dyskeratosis congenita, autosomal recessive 5 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:15917 Dyskeratosis congenita, autosomal recessive 5 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +GARD:15917 Dyskeratosis congenita, autosomal recessive 5 skos:exactMatch OMIM:615190 semapv:UnspecifiedMatching +GARD:15918 Agammaglobulinemia 7, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +GARD:15918 Agammaglobulinemia 7, autosomal recessive skos:exactMatch OMIM:615214 semapv:UnspecifiedMatching +GARD:15919 Osteogenesis imperfecta, type xv skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:15919 Osteogenesis imperfecta, type xv skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:15919 Osteogenesis imperfecta, type xv skos:exactMatch OMIM:615220 semapv:UnspecifiedMatching +GARD:15920 Bone mineral density quantitative trait locus 16 skos:broadMatch Orphanet:85193 semapv:UnspecifiedMatching +GARD:15920 Bone mineral density quantitative trait locus 16 skos:exactMatch OMIM:615221 semapv:UnspecifiedMatching +GARD:15921 Smith-mccort dysplasia 2 skos:broadMatch Orphanet:178355 semapv:UnspecifiedMatching +GARD:15921 Smith-mccort dysplasia 2 skos:exactMatch OMIM:615222 semapv:UnspecifiedMatching +GARD:15922 Advanced sleep phase syndrome, familial, 2 skos:broadMatch Orphanet:164736 semapv:UnspecifiedMatching +GARD:15922 Advanced sleep phase syndrome, familial, 2 skos:exactMatch OMIM:615224 semapv:UnspecifiedMatching +GARD:15923 Retinitis pigmentosa 66 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15923 Retinitis pigmentosa 66 skos:exactMatch OMIM:615233 semapv:UnspecifiedMatching +GARD:15924 Cardiomyopathy, dilated, 1jj skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15924 Cardiomyopathy, dilated, 1jj skos:exactMatch OMIM:615235 semapv:UnspecifiedMatching +GARD:15925 Nephrotic syndrome, type 8 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15925 Nephrotic syndrome, type 8 skos:exactMatch OMIM:615244 semapv:UnspecifiedMatching +GARD:15926 Cardiomyopathy, dilated, 1kk skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:15926 Cardiomyopathy, dilated, 1kk skos:exactMatch OMIM:615248 semapv:UnspecifiedMatching +GARD:15927 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15927 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:exactMatch OMIM:615249 semapv:UnspecifiedMatching +GARD:15928 Hypogonadotropic hypogonadism 17 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:15928 Hypogonadotropic hypogonadism 17 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15928 Hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch OMIM:615266 semapv:UnspecifiedMatching +GARD:15929 Hypogonadotropic hypogonadism 18 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15929 Hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch OMIM:615267 semapv:UnspecifiedMatching +GARD:15930 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 skos:broadMatch Orphanet:1766 semapv:UnspecifiedMatching +GARD:15930 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 skos:exactMatch OMIM:615268 semapv:UnspecifiedMatching +GARD:15931 Hypogonadotropic hypogonadism 19 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:15931 Hypogonadotropic hypogonadism 19 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15931 Hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch OMIM:615269 semapv:UnspecifiedMatching +GARD:15932 Hypogonadotropic hypogonadism 20 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:15932 Hypogonadotropic hypogonadism 20 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15932 Hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch OMIM:615270 semapv:UnspecifiedMatching +GARD:15933 Hypogonadotropic hypogonadism 21 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:15933 Hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch OMIM:615271 semapv:UnspecifiedMatching +GARD:15934 Fanconi anemia, complementation group q skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:15934 Fanconi anemia, complementation group q skos:exactMatch OMIM:615272 semapv:UnspecifiedMatching +GARD:15935 Cardiofaciocutaneous syndrome 2 skos:broadMatch Orphanet:1340 semapv:UnspecifiedMatching +GARD:15935 Cardiofaciocutaneous syndrome 2 skos:exactMatch OMIM:615278 semapv:UnspecifiedMatching +GARD:15936 Cardiofaciocutaneous syndrome 3 skos:broadMatch Orphanet:1340 semapv:UnspecifiedMatching +GARD:15936 Cardiofaciocutaneous syndrome 3 skos:exactMatch OMIM:615279 semapv:UnspecifiedMatching +GARD:15937 Cardiofaciocutaneous syndrome 4 skos:broadMatch Orphanet:1340 semapv:UnspecifiedMatching +GARD:15937 Cardiofaciocutaneous syndrome 4 skos:exactMatch OMIM:615280 semapv:UnspecifiedMatching +GARD:15938 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:15938 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 skos:exactMatch OMIM:615287 semapv:UnspecifiedMatching +GARD:15939 Myofibromatosis, infantile, 2 skos:broadMatch Orphanet:2591 semapv:UnspecifiedMatching +GARD:15939 Myofibromatosis, infantile, 2 skos:exactMatch OMIM:615293 semapv:UnspecifiedMatching +GARD:15940 Ciliary dyskinesia, primary, 21 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15940 Ciliary dyskinesia, primary, 21 skos:exactMatch OMIM:615294 semapv:UnspecifiedMatching +GARD:15941 Adams-oliver syndrome 4 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +GARD:15941 Adams-oliver syndrome 4 skos:exactMatch OMIM:615297 semapv:UnspecifiedMatching +GARD:15942 Symphalangism, proximal, 1b skos:broadMatch Orphanet:3250 semapv:UnspecifiedMatching +GARD:15942 Symphalangism, proximal, 1b skos:exactMatch OMIM:615298 semapv:UnspecifiedMatching +GARD:15943 Perrault syndrome 4 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +GARD:15943 Perrault syndrome 4 skos:exactMatch OMIM:615300 semapv:UnspecifiedMatching +GARD:15944 Dowling-degos disease 2 skos:broadMatch Orphanet:79145 semapv:UnspecifiedMatching +GARD:15944 Dowling-degos disease 2 skos:exactMatch OMIM:615327 semapv:UnspecifiedMatching +GARD:15945 Developmental and epileptic encephalopathy 16 skos:broadMatch Orphanet:293181 semapv:UnspecifiedMatching +GARD:15945 Developmental and epileptic encephalopathy 16 skos:exactMatch OMIM:615338 semapv:UnspecifiedMatching +GARD:15946 Nemaline myopathy 8 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +GARD:15946 Nemaline myopathy 8 skos:exactMatch OMIM:615348 semapv:UnspecifiedMatching +GARD:15947 Ehlers-danlos syndrome, spondylodysplastic type, 2 skos:broadMatch Orphanet:75496 semapv:UnspecifiedMatching +GARD:15947 Ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch OMIM:615349 semapv:UnspecifiedMatching +GARD:15948 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +GARD:15948 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 skos:exactMatch OMIM:615350 semapv:UnspecifiedMatching +GARD:15949 Noonan syndrome 8 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:15949 Noonan syndrome 8 skos:exactMatch OMIM:615355 semapv:UnspecifiedMatching +GARD:15950 Leber congenital amaurosis 17 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:15950 Leber congenital amaurosis 17 skos:exactMatch OMIM:615360 semapv:UnspecifiedMatching +GARD:15951 Hypocalcemia, autosomal dominant 2 skos:broadMatch Orphanet:428 semapv:UnspecifiedMatching +GARD:15951 Hypocalcemia, autosomal dominant 2 skos:exactMatch OMIM:615361 semapv:UnspecifiedMatching +GARD:15952 Left ventricular noncompaction 8 skos:broadMatch Orphanet:54260 semapv:UnspecifiedMatching +GARD:15952 Left ventricular noncompaction 8 skos:exactMatch OMIM:615373 semapv:UnspecifiedMatching +GARD:15953 Cone-rod dystrophy 18 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:15953 Cone-rod dystrophy 18 skos:exactMatch OMIM:615374 semapv:UnspecifiedMatching +GARD:15954 Atrial fibrillation, familial, 13 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15954 Atrial fibrillation, familial, 13 skos:exactMatch OMIM:615377 semapv:UnspecifiedMatching +GARD:15955 Atrial fibrillation, familial, 14 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:15955 Atrial fibrillation, familial, 14 skos:exactMatch OMIM:615378 semapv:UnspecifiedMatching +GARD:15956 Left ventricular noncompaction 10 skos:broadMatch Orphanet:54260 semapv:UnspecifiedMatching +GARD:15956 Left ventricular noncompaction 10 skos:exactMatch OMIM:615396 semapv:UnspecifiedMatching +GARD:15957 Meckel syndrome, type 11 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:15957 Meckel syndrome, type 11 skos:exactMatch OMIM:615397 semapv:UnspecifiedMatching +GARD:15958 Paroxysmal nocturnal hemoglobinuria 2 skos:broadMatch Orphanet:447 semapv:UnspecifiedMatching +GARD:15958 Paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch OMIM:615399 semapv:UnspecifiedMatching +GARD:15959 Dyschromatosis universalis hereditaria 3 skos:broadMatch Orphanet:241 semapv:UnspecifiedMatching +GARD:15959 Dyschromatosis universalis hereditaria 3 skos:exactMatch OMIM:615402 semapv:UnspecifiedMatching +GARD:15960 Spermatogenic failure 12 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:15960 Spermatogenic failure 12 skos:exactMatch OMIM:615413 semapv:UnspecifiedMatching +GARD:15961 Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive skos:broadMatch Orphanet:1369 semapv:UnspecifiedMatching +GARD:15961 Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive skos:exactMatch OMIM:615418 semapv:UnspecifiedMatching +GARD:15962 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 skos:broadMatch Orphanet:52430 semapv:UnspecifiedMatching +GARD:15962 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 skos:exactMatch OMIM:615422 semapv:UnspecifiedMatching +GARD:15963 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 skos:broadMatch Orphanet:52430 semapv:UnspecifiedMatching +GARD:15963 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 skos:exactMatch OMIM:615424 semapv:UnspecifiedMatching +GARD:15964 Amyotrophic lateral sclerosis 20 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15964 Amyotrophic lateral sclerosis 20 skos:exactMatch OMIM:615426 semapv:UnspecifiedMatching +GARD:15965 Retinitis pigmentosa 82 with or without situs inversus skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15965 Retinitis pigmentosa 82 with or without situs inversus skos:exactMatch OMIM:615434 semapv:UnspecifiedMatching +GARD:15966 Aortic aneurysm, familial thoracic 8 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:15966 Aortic aneurysm, familial thoracic 8 skos:exactMatch OMIM:615436 semapv:UnspecifiedMatching +GARD:15967 Cardiac arrhythmia syndrome, with or without skeletal muscle weakness skos:broadMatch Orphanet:3286 semapv:UnspecifiedMatching +GARD:15967 Cardiac arrhythmia syndrome, with or without skeletal muscle weakness skos:exactMatch OMIM:615441 semapv:UnspecifiedMatching +GARD:15968 Ciliary dyskinesia, primary, 22 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15968 Ciliary dyskinesia, primary, 22 skos:exactMatch OMIM:615444 semapv:UnspecifiedMatching +GARD:15969 Ciliary dyskinesia, primary, 23 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15969 Ciliary dyskinesia, primary, 23 skos:exactMatch OMIM:615451 semapv:UnspecifiedMatching +GARD:15970 Mitochondrial complex iii deficiency, nuclear type 6 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:15970 Mitochondrial complex iii deficiency, nuclear type 6 skos:exactMatch OMIM:615453 semapv:UnspecifiedMatching +GARD:15971 Ciliary dyskinesia, primary, 24 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15971 Ciliary dyskinesia, primary, 24 skos:exactMatch OMIM:615481 semapv:UnspecifiedMatching +GARD:15972 Ciliary dyskinesia, primary, 25 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15972 Ciliary dyskinesia, primary, 25 skos:exactMatch OMIM:615482 semapv:UnspecifiedMatching +GARD:15973 Basal ganglia calcification, idiopathic, 5 skos:broadMatch Orphanet:1980 semapv:UnspecifiedMatching +GARD:15973 Basal ganglia calcification, idiopathic, 5 skos:exactMatch OMIM:615483 semapv:UnspecifiedMatching +GARD:15974 Ciliary dyskinesia, primary, 26 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15974 Ciliary dyskinesia, primary, 26 skos:exactMatch OMIM:615500 semapv:UnspecifiedMatching +GARD:15975 Short-rib thoracic dysplasia 8 with or without polydactyly skos:broadMatch Orphanet:93271 semapv:UnspecifiedMatching +GARD:15975 Short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch OMIM:615503 semapv:UnspecifiedMatching +GARD:15976 Ciliary dyskinesia, primary, 27 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15976 Ciliary dyskinesia, primary, 27 skos:exactMatch OMIM:615504 semapv:UnspecifiedMatching +GARD:15977 Ciliary dyskinesia, primary, 28 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:15977 Ciliary dyskinesia, primary, 28 skos:exactMatch OMIM:615505 semapv:UnspecifiedMatching +GARD:15978 Telangiectasia, hereditary hemorrhagic, type 5 skos:broadMatch Orphanet:774 semapv:UnspecifiedMatching +GARD:15978 Telangiectasia, hereditary hemorrhagic, type 5 skos:exactMatch OMIM:615506 semapv:UnspecifiedMatching +GARD:15979 Immunodeficiency 14a, autosomal dominant skos:broadMatch Orphanet:397596 semapv:UnspecifiedMatching +GARD:15979 Immunodeficiency 14a, autosomal dominant skos:exactMatch OMIM:615513 semapv:UnspecifiedMatching +GARD:15980 Amyotrophic lateral sclerosis 19 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:15980 Amyotrophic lateral sclerosis 19 skos:exactMatch OMIM:615515 semapv:UnspecifiedMatching +GARD:15981 Candidiasis, familial, 8 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:15981 Candidiasis, familial, 8 skos:exactMatch OMIM:615527 semapv:UnspecifiedMatching +GARD:15982 Ehlers-danlos syndrome, musculocontractural type, 2 skos:broadMatch Orphanet:2953 semapv:UnspecifiedMatching +GARD:15982 Ehlers-danlos syndrome, musculocontractural type, 2 skos:exactMatch OMIM:615539 semapv:UnspecifiedMatching +GARD:15983 Periventricular nodular heterotopia 6 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:15983 Periventricular nodular heterotopia 6 skos:exactMatch OMIM:615544 semapv:UnspecifiedMatching +GARD:15984 Van maldergem syndrome 2 skos:broadMatch Orphanet:314679 semapv:UnspecifiedMatching +GARD:15984 Van maldergem syndrome 2 skos:exactMatch OMIM:615546 semapv:UnspecifiedMatching +GARD:15985 Diamond-blackfan anemia 12 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:15985 Diamond-blackfan anemia 12 skos:exactMatch OMIM:615550 semapv:UnspecifiedMatching +GARD:15986 Melioidosis, susceptibility to skos:broadMatch Orphanet:31202 semapv:UnspecifiedMatching +GARD:15986 Melioidosis, susceptibility to skos:exactMatch OMIM:615557 semapv:UnspecifiedMatching +GARD:15987 Autoimmune lymphoproliferative syndrome, type iii skos:broadMatch Orphanet:3261 semapv:UnspecifiedMatching +GARD:15987 Autoimmune lymphoproliferative syndrome, type iii skos:exactMatch OMIM:615559 semapv:UnspecifiedMatching +GARD:15988 Retinitis pigmentosa 67 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:15988 Retinitis pigmentosa 67 skos:exactMatch OMIM:615565 semapv:UnspecifiedMatching +GARD:15989 Nephrotic syndrome, type 9 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:15989 Nephrotic syndrome, type 9 skos:exactMatch OMIM:615573 semapv:UnspecifiedMatching +GARD:15990 Immunodeficiency, common variable, 10 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:15990 Immunodeficiency, common variable, 10 skos:exactMatch OMIM:615577 semapv:UnspecifiedMatching +GARD:15991 Fanconi renotubular syndrome 3 skos:broadMatch Orphanet:3337 semapv:UnspecifiedMatching +GARD:15991 Fanconi renotubular syndrome 3 skos:exactMatch OMIM:615605 semapv:UnspecifiedMatching +GARD:15992 Cholangiocarcinoma, susceptibility to skos:broadMatch Orphanet:70567 semapv:UnspecifiedMatching +GARD:15992 Cholangiocarcinoma, susceptibility to skos:exactMatch OMIM:615619 semapv:UnspecifiedMatching +GARD:15993 Short-rib thoracic dysplasia 10 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:15993 Short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch OMIM:615630 semapv:UnspecifiedMatching +GARD:15994 Anemia, congenital dyserythropoietic, type ib skos:broadMatch Orphanet:98869 semapv:UnspecifiedMatching +GARD:15994 Anemia, congenital dyserythropoietic, type ib skos:exactMatch OMIM:615631 semapv:UnspecifiedMatching +GARD:15995 Neuropathy, hereditary sensory, type if skos:broadMatch Orphanet:36386 semapv:UnspecifiedMatching +GARD:15995 Neuropathy, hereditary sensory, type if skos:exactMatch OMIM:615632 semapv:UnspecifiedMatching +GARD:15996 Short-rib thoracic dysplasia 11 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:15996 Short-rib thoracic dysplasia 11 with or without polydactyly skos:broadMatch Orphanet:93271 semapv:UnspecifiedMatching +GARD:15996 Short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch OMIM:615633 semapv:UnspecifiedMatching +GARD:15997 Joubert syndrome 21 skos:broadMatch Orphanet:397715 semapv:UnspecifiedMatching +GARD:15997 Joubert syndrome 21 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:15997 Joubert syndrome 21 skos:exactMatch OMIM:615636 semapv:UnspecifiedMatching +GARD:15998 Warburg micro syndrome 4 skos:broadMatch Orphanet:2510 semapv:UnspecifiedMatching +GARD:15998 Warburg micro syndrome 4 skos:exactMatch OMIM:615663 semapv:UnspecifiedMatching +GARD:15999 Joubert syndrome 22 skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +GARD:15999 Joubert syndrome 22 skos:exactMatch OMIM:615665 semapv:UnspecifiedMatching +GARD:16 Ocular motor apraxia, Cogan type skos:exactMatch Orphanet:1125 semapv:UnspecifiedMatching +GARD:16 Ocular motor apraxia, Cogan type skos:narrowMatch OMIM:257550 semapv:UnspecifiedMatching +GARD:160 Satoyoshi syndrome skos:exactMatch Orphanet:3130 semapv:UnspecifiedMatching +GARD:160 Satoyoshi syndrome skos:narrowMatch OMIM:600705 semapv:UnspecifiedMatching +GARD:16000 Schwannomatosis 2 skos:broadMatch Orphanet:93921 semapv:UnspecifiedMatching +GARD:16000 Schwannomatosis 2 skos:exactMatch OMIM:615670 semapv:UnspecifiedMatching +GARD:16001 Dowling-degos disease 3 skos:broadMatch Orphanet:79145 semapv:UnspecifiedMatching +GARD:16001 Dowling-degos disease 3 skos:exactMatch OMIM:615674 semapv:UnspecifiedMatching +GARD:16002 Dowling-degos disease 4 skos:broadMatch Orphanet:79145 semapv:UnspecifiedMatching +GARD:16002 Dowling-degos disease 4 skos:exactMatch OMIM:615696 semapv:UnspecifiedMatching +GARD:16003 Auriculocondylar syndrome 3 skos:broadMatch Orphanet:137888 semapv:UnspecifiedMatching +GARD:16003 Auriculocondylar syndrome 3 skos:exactMatch OMIM:615706 semapv:UnspecifiedMatching +GARD:16004 Retinitis pigmentosa 68 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16004 Retinitis pigmentosa 68 skos:exactMatch OMIM:615725 semapv:UnspecifiedMatching +GARD:16005 Pachyonychia congenita 3 skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +GARD:16005 Pachyonychia congenita 3 skos:exactMatch OMIM:615726 semapv:UnspecifiedMatching +GARD:16006 Pachyonychia congenita 4 skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +GARD:16006 Pachyonychia congenita 4 skos:exactMatch OMIM:615728 semapv:UnspecifiedMatching +GARD:16007 Nemaline myopathy 9 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +GARD:16007 Nemaline myopathy 9 skos:broadMatch Orphanet:171433 semapv:UnspecifiedMatching +GARD:16007 Nemaline myopathy 9 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +GARD:16007 Nemaline myopathy 9 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +GARD:16007 Nemaline myopathy 9 skos:exactMatch OMIM:615731 semapv:UnspecifiedMatching +GARD:16008 Developmental and epileptic encephalopathy 19 skos:broadMatch Orphanet:33069 semapv:UnspecifiedMatching +GARD:16008 Developmental and epileptic encephalopathy 19 skos:exactMatch OMIM:615744 semapv:UnspecifiedMatching +GARD:16009 Polymicrogyria, bilateral perisylvian, autosomal recessive skos:broadMatch Orphanet:98889 semapv:UnspecifiedMatching +GARD:16009 Polymicrogyria, bilateral perisylvian, autosomal recessive skos:exactMatch OMIM:615752 semapv:UnspecifiedMatching +GARD:1601 Craniosynostosis, Philadelphia type skos:exactMatch Orphanet:1527 semapv:UnspecifiedMatching +GARD:1601 Craniosynostosis, Philadelphia type skos:narrowMatch OMIM:185900 semapv:UnspecifiedMatching +GARD:16010 Atrial fibrillation, familial, 15 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:16010 Atrial fibrillation, familial, 15 skos:exactMatch OMIM:615770 semapv:UnspecifiedMatching +GARD:16011 Retinitis pigmentosa 69 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16011 Retinitis pigmentosa 69 skos:exactMatch OMIM:615780 semapv:UnspecifiedMatching +GARD:16012 White sponge nevus 2 skos:broadMatch Orphanet:171723 semapv:UnspecifiedMatching +GARD:16012 White sponge nevus 2 skos:exactMatch OMIM:615785 semapv:UnspecifiedMatching +GARD:16013 Seckel syndrome 8 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +GARD:16013 Seckel syndrome 8 skos:exactMatch OMIM:615807 semapv:UnspecifiedMatching +GARD:16014 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:broadMatch Orphanet:65282 semapv:UnspecifiedMatching +GARD:16014 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch OMIM:615821 semapv:UnspecifiedMatching +GARD:16015 Mitochondrial complex iii deficiency, nuclear type 7 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:16015 Mitochondrial complex iii deficiency, nuclear type 7 skos:exactMatch OMIM:615824 semapv:UnspecifiedMatching +GARD:16016 Pigmented nodular adrenocortical disease, primary, 4 skos:broadMatch Orphanet:189439 semapv:UnspecifiedMatching +GARD:16016 Pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch OMIM:615830 semapv:UnspecifiedMatching +GARD:16017 Developmental and epileptic encephalopathy 21 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16017 Developmental and epileptic encephalopathy 21 skos:exactMatch OMIM:615833 semapv:UnspecifiedMatching +GARD:16018 Mitochondrial complex iii deficiency, nuclear type 8 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:16018 Mitochondrial complex iii deficiency, nuclear type 8 skos:exactMatch OMIM:615838 semapv:UnspecifiedMatching +GARD:16019 Spermatogenic failure 13 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16019 Spermatogenic failure 13 skos:exactMatch OMIM:615841 semapv:UnspecifiedMatching +GARD:1602 Baller-Gerold syndrome skos:exactMatch Orphanet:1225 semapv:UnspecifiedMatching +GARD:1602 Baller-Gerold syndrome skos:narrowMatch OMIM:218600 semapv:UnspecifiedMatching +GARD:16020 Spermatogenic failure 14 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16020 Spermatogenic failure 14 skos:exactMatch OMIM:615842 semapv:UnspecifiedMatching +GARD:16021 Aicardi-goutieres syndrome 7 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:16021 Aicardi-goutieres syndrome 7 skos:exactMatch OMIM:615846 semapv:UnspecifiedMatching +GARD:16022 Cone-rod dystrophy 19 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:16022 Cone-rod dystrophy 19 skos:exactMatch OMIM:615860 semapv:UnspecifiedMatching +GARD:16023 Coffin-siris syndrome 9 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:16023 Coffin-siris syndrome 9 skos:exactMatch OMIM:615866 semapv:UnspecifiedMatching +GARD:16024 Developmental and epileptic encephalopathy 24 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16024 Developmental and epileptic encephalopathy 24 skos:exactMatch OMIM:615871 semapv:UnspecifiedMatching +GARD:16025 Ciliary dyskinesia, primary, 29 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16025 Ciliary dyskinesia, primary, 29 skos:exactMatch OMIM:615872 semapv:UnspecifiedMatching +GARD:16026 Myopathy, tubular aggregate, 2 skos:broadMatch Orphanet:2593 semapv:UnspecifiedMatching +GARD:16026 Myopathy, tubular aggregate, 2 skos:exactMatch OMIM:615883 semapv:UnspecifiedMatching +GARD:16027 Hypotrichosis 12 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:16027 Hypotrichosis 12 skos:exactMatch OMIM:615885 semapv:UnspecifiedMatching +GARD:16028 Amelogenesis imperfecta, hypomaturation type, iia5 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +GARD:16028 Amelogenesis imperfecta, hypomaturation type, iia5 skos:exactMatch OMIM:615887 semapv:UnspecifiedMatching +GARD:16029 Hypotrichosis 13 skos:broadMatch Orphanet:170 semapv:UnspecifiedMatching +GARD:16029 Hypotrichosis 13 skos:exactMatch OMIM:615896 semapv:UnspecifiedMatching +GARD:16030 Diamond-blackfan anemia 13 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:16030 Diamond-blackfan anemia 13 skos:exactMatch OMIM:615909 semapv:UnspecifiedMatching +GARD:16031 Cardiomyopathy, dilated, 1nn skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:16031 Cardiomyopathy, dilated, 1nn skos:exactMatch OMIM:615916 semapv:UnspecifiedMatching +GARD:16032 Retinitis pigmentosa 70 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16032 Retinitis pigmentosa 70 skos:exactMatch OMIM:615922 semapv:UnspecifiedMatching +GARD:16033 Pancreatic agenesis 2 skos:broadMatch Orphanet:2805 semapv:UnspecifiedMatching +GARD:16033 Pancreatic agenesis 2 skos:exactMatch OMIM:615935 semapv:UnspecifiedMatching +GARD:16034 Acth-independent macronodular adrenal hyperplasia 2 skos:broadMatch Orphanet:189427 semapv:UnspecifiedMatching +GARD:16034 Acth-independent macronodular adrenal hyperplasia 2 skos:exactMatch OMIM:615954 semapv:UnspecifiedMatching +GARD:16035 Myopathy, centronuclear, 5 skos:broadMatch Orphanet:169186 semapv:UnspecifiedMatching +GARD:16035 Myopathy, centronuclear, 5 skos:exactMatch OMIM:615959 semapv:UnspecifiedMatching +GARD:16036 Cone-rod dystrophy 20 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:16036 Cone-rod dystrophy 20 skos:exactMatch OMIM:615973 semapv:UnspecifiedMatching +GARD:16037 Bardet-biedl syndrome 13 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16037 Bardet-biedl syndrome 13 skos:exactMatch OMIM:615990 semapv:UnspecifiedMatching +GARD:16038 Bardet-biedl syndrome 14 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16038 Bardet-biedl syndrome 14 skos:exactMatch OMIM:615991 semapv:UnspecifiedMatching +GARD:16039 Bardet-biedl syndrome 15 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16039 Bardet-biedl syndrome 15 skos:exactMatch OMIM:615992 semapv:UnspecifiedMatching +GARD:16040 Bardet-biedl syndrome 16 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16040 Bardet-biedl syndrome 16 skos:exactMatch OMIM:615993 semapv:UnspecifiedMatching +GARD:16041 Bardet-biedl syndrome 17 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16041 Bardet-biedl syndrome 17 skos:exactMatch OMIM:615994 semapv:UnspecifiedMatching +GARD:16042 Bardet-biedl syndrome 18 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16042 Bardet-biedl syndrome 18 skos:exactMatch OMIM:615995 semapv:UnspecifiedMatching +GARD:16043 Bardet-biedl syndrome 19 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16043 Bardet-biedl syndrome 19 skos:exactMatch OMIM:615996 semapv:UnspecifiedMatching +GARD:16044 Breasts and/or nipples, aplasia or hypoplasia of, 2 skos:broadMatch Orphanet:180188 semapv:UnspecifiedMatching +GARD:16044 Breasts and/or nipples, aplasia or hypoplasia of, 2 skos:exactMatch OMIM:616001 semapv:UnspecifiedMatching +GARD:16045 Focal segmental glomerulosclerosis 7 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16045 Focal segmental glomerulosclerosis 7 skos:exactMatch OMIM:616002 semapv:UnspecifiedMatching +GARD:16046 Immunodeficiency 36 skos:broadMatch Orphanet:397596 semapv:UnspecifiedMatching +GARD:16046 Immunodeficiency 36 skos:exactMatch OMIM:616005 semapv:UnspecifiedMatching +GARD:16047 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:broadMatch Orphanet:2136 semapv:UnspecifiedMatching +GARD:16047 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:exactMatch OMIM:616006 semapv:UnspecifiedMatching +GARD:16048 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:broadMatch Orphanet:93111 semapv:UnspecifiedMatching +GARD:16048 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:exactMatch OMIM:616026 semapv:UnspecifiedMatching +GARD:16049 Adams-oliver syndrome 5 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +GARD:16049 Adams-oliver syndrome 5 skos:exactMatch OMIM:616028 semapv:UnspecifiedMatching +GARD:1605 Craniotelencephalic dysplasia skos:exactMatch Orphanet:1528 semapv:UnspecifiedMatching +GARD:1605 Craniotelencephalic dysplasia skos:narrowMatch OMIM:218670 semapv:UnspecifiedMatching +GARD:16050 Hypogonadotropic hypogonadism 22 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:16050 Hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch OMIM:616030 semapv:UnspecifiedMatching +GARD:16051 Focal segmental glomerulosclerosis 8 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16051 Focal segmental glomerulosclerosis 8 skos:exactMatch OMIM:616032 semapv:UnspecifiedMatching +GARD:16052 Ciliary dyskinesia, primary, 30 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16052 Ciliary dyskinesia, primary, 30 skos:exactMatch OMIM:616037 semapv:UnspecifiedMatching +GARD:16053 Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:16053 Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant skos:exactMatch OMIM:616040 semapv:UnspecifiedMatching +GARD:16054 Microcephaly 13, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16054 Microcephaly 13, primary, autosomal recessive skos:exactMatch OMIM:616051 semapv:UnspecifiedMatching +GARD:16055 Mirror movements 3 skos:broadMatch Orphanet:238722 semapv:UnspecifiedMatching +GARD:16055 Mirror movements 3 skos:exactMatch OMIM:616059 semapv:UnspecifiedMatching +GARD:16056 Porokeratosis 8, disseminated superficial actinic type skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +GARD:16056 Porokeratosis 8, disseminated superficial actinic type skos:exactMatch OMIM:616063 semapv:UnspecifiedMatching +GARD:16057 Microcephaly 12, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16057 Microcephaly 12, primary, autosomal recessive skos:exactMatch OMIM:616080 semapv:UnspecifiedMatching +GARD:16058 Pontocerebellar hypoplasia, type 1c skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +GARD:16058 Pontocerebellar hypoplasia, type 1c skos:exactMatch OMIM:616081 semapv:UnspecifiedMatching +GARD:16059 Psoriasis 15, pustular, susceptibility to skos:broadMatch Orphanet:247353 semapv:UnspecifiedMatching +GARD:16059 Psoriasis 15, pustular, susceptibility to skos:exactMatch OMIM:616106 semapv:UnspecifiedMatching +GARD:16060 Mitochondrial complex iii deficiency, nuclear type 9 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:16060 Mitochondrial complex iii deficiency, nuclear type 9 skos:exactMatch OMIM:616111 semapv:UnspecifiedMatching +GARD:16061 Familial cold autoinflammatory syndrome 4 skos:broadMatch Orphanet:47045 semapv:UnspecifiedMatching +GARD:16061 Familial cold autoinflammatory syndrome 4 skos:exactMatch OMIM:616115 semapv:UnspecifiedMatching +GARD:16062 Perrault syndrome 5 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +GARD:16062 Perrault syndrome 5 skos:exactMatch OMIM:616138 semapv:UnspecifiedMatching +GARD:16063 Developmental and epileptic encephalopathy 27 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:16063 Developmental and epileptic encephalopathy 27 skos:exactMatch OMIM:616139 semapv:UnspecifiedMatching +GARD:16064 Macular dystrophy, vitelliform, 4 skos:broadMatch Orphanet:99000 semapv:UnspecifiedMatching +GARD:16064 Macular dystrophy, vitelliform, 4 skos:exactMatch OMIM:616151 semapv:UnspecifiedMatching +GARD:16065 Macular dystrophy, vitelliform, 5 skos:broadMatch Orphanet:99000 semapv:UnspecifiedMatching +GARD:16065 Macular dystrophy, vitelliform, 5 skos:exactMatch OMIM:616152 semapv:UnspecifiedMatching +GARD:16066 Nemaline myopathy 10 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +GARD:16066 Nemaline myopathy 10 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +GARD:16066 Nemaline myopathy 10 skos:exactMatch OMIM:616165 semapv:UnspecifiedMatching +GARD:16067 Aortic aneurysm, familial thoracic 9 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:16067 Aortic aneurysm, familial thoracic 9 skos:exactMatch OMIM:616166 semapv:UnspecifiedMatching +GARD:16068 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:16068 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia skos:exactMatch OMIM:616208 semapv:UnspecifiedMatching +GARD:16069 Developmental and epileptic encephalopathy 28 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16069 Developmental and epileptic encephalopathy 28 skos:exactMatch OMIM:616211 semapv:UnspecifiedMatching +GARD:16070 Focal segmental glomerulosclerosis 9 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16070 Focal segmental glomerulosclerosis 9 skos:exactMatch OMIM:616220 semapv:UnspecifiedMatching +GARD:16071 Amelogenesis imperfecta, type ih skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +GARD:16071 Amelogenesis imperfecta, type ih skos:broadMatch Orphanet:100032 semapv:UnspecifiedMatching +GARD:16071 Amelogenesis imperfecta, type ih skos:exactMatch OMIM:616221 semapv:UnspecifiedMatching +GARD:16072 Osteogenesis imperfecta, type xvi skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:16072 Osteogenesis imperfecta, type xvi skos:exactMatch OMIM:616229 semapv:UnspecifiedMatching +GARD:16073 Long qt syndrome 14 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:16073 Long qt syndrome 14 skos:exactMatch OMIM:616247 semapv:UnspecifiedMatching +GARD:16074 Long qt syndrome 15 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:16074 Long qt syndrome 15 skos:exactMatch OMIM:616249 semapv:UnspecifiedMatching +GARD:16075 Congenital limbs-face contractures-hypotonia-developmental delay syndrome skos:exactMatch Orphanet:562528 semapv:UnspecifiedMatching +GARD:16075 Congenital limbs-face contractures-hypotonia-developmental delay syndrome skos:narrowMatch OMIM:616266 semapv:UnspecifiedMatching +GARD:16076 Amelogenesis imperfecta, type if skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +GARD:16076 Amelogenesis imperfecta, type if skos:exactMatch OMIM:616270 semapv:UnspecifiedMatching +GARD:16077 Cole-carpenter syndrome 2 skos:broadMatch Orphanet:2050 semapv:UnspecifiedMatching +GARD:16077 Cole-carpenter syndrome 2 skos:exactMatch OMIM:616294 semapv:UnspecifiedMatching +GARD:16078 Singleton-merten syndrome 2 skos:broadMatch Orphanet:85191 semapv:UnspecifiedMatching +GARD:16078 Singleton-merten syndrome 2 skos:exactMatch OMIM:616298 semapv:UnspecifiedMatching +GARD:16079 Short-rib thoracic dysplasia 13 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:16079 Short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch OMIM:616300 semapv:UnspecifiedMatching +GARD:1608 X-linked creatine transporter deficiency skos:exactMatch Orphanet:52503 semapv:UnspecifiedMatching +GARD:1608 X-linked creatine transporter deficiency skos:narrowMatch OMIM:300352 semapv:UnspecifiedMatching +GARD:16080 Myasthenic syndrome, congenital, 17 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16080 Myasthenic syndrome, congenital, 17 skos:exactMatch OMIM:616304 semapv:UnspecifiedMatching +GARD:16081 Senior-loken syndrome 8 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:16081 Senior-loken syndrome 8 skos:exactMatch OMIM:616307 semapv:UnspecifiedMatching +GARD:16082 Intellectual developmental disorder, autosomal dominant 33 skos:broadMatch Orphanet:2514 semapv:UnspecifiedMatching +GARD:16082 Intellectual developmental disorder, autosomal dominant 33 skos:exactMatch OMIM:616311 semapv:UnspecifiedMatching +GARD:16083 Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16083 Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:616314 semapv:UnspecifiedMatching +GARD:16084 Myasthenic syndrome, congenital, 3a, slow-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16084 Myasthenic syndrome, congenital, 3a, slow-channel skos:exactMatch OMIM:616321 semapv:UnspecifiedMatching +GARD:16085 Myasthenic syndrome, congenital, 3b, fast-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16085 Myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch OMIM:616322 semapv:UnspecifiedMatching +GARD:16086 Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16086 Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:616323 semapv:UnspecifiedMatching +GARD:16087 Myasthenic syndrome, congenital, 4b, fast-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16087 Myasthenic syndrome, congenital, 4b, fast-channel skos:exactMatch OMIM:616324 semapv:UnspecifiedMatching +GARD:16088 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16088 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:616325 semapv:UnspecifiedMatching +GARD:16089 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16089 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:616326 semapv:UnspecifiedMatching +GARD:1609 Creeping myiasis skos:exactMatch Orphanet:504 semapv:UnspecifiedMatching +GARD:16090 Maturity-onset diabetes of the young, type 13 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:16090 Maturity-onset diabetes of the young, type 13 skos:exactMatch OMIM:616329 semapv:UnspecifiedMatching +GARD:16091 Myasthenic syndrome, congenital, 18 skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:16091 Myasthenic syndrome, congenital, 18 skos:exactMatch OMIM:616330 semapv:UnspecifiedMatching +GARD:16092 Developmental and epileptic encephalopathy 29 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16092 Developmental and epileptic encephalopathy 29 skos:exactMatch OMIM:616339 semapv:UnspecifiedMatching +GARD:16093 Developmental and epileptic encephalopathy 30 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16093 Developmental and epileptic encephalopathy 30 skos:broadMatch Orphanet:1935 semapv:UnspecifiedMatching +GARD:16093 Developmental and epileptic encephalopathy 30 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:16093 Developmental and epileptic encephalopathy 30 skos:exactMatch OMIM:616341 semapv:UnspecifiedMatching +GARD:16094 Developmental and epileptic encephalopathy 31 skos:broadMatch Orphanet:2382 semapv:UnspecifiedMatching +GARD:16094 Developmental and epileptic encephalopathy 31 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16094 Developmental and epileptic encephalopathy 31 skos:exactMatch OMIM:616346 semapv:UnspecifiedMatching +GARD:16095 Dyskeratosis congenita, autosomal recessive 6 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:16095 Dyskeratosis congenita, autosomal recessive 6 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +GARD:16095 Dyskeratosis congenita, autosomal recessive 6 skos:exactMatch OMIM:616353 semapv:UnspecifiedMatching +GARD:16096 Developmental and epileptic encephalopathy 32 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16096 Developmental and epileptic encephalopathy 32 skos:exactMatch OMIM:616366 semapv:UnspecifiedMatching +GARD:16097 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 skos:broadMatch Orphanet:2032 semapv:UnspecifiedMatching +GARD:16097 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 skos:exactMatch OMIM:616371 semapv:UnspecifiedMatching +GARD:16098 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 skos:broadMatch Orphanet:2032 semapv:UnspecifiedMatching +GARD:16098 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 skos:exactMatch OMIM:616373 semapv:UnspecifiedMatching +GARD:16099 Night blindness, congenital stationary, type 1g skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:16099 Night blindness, congenital stationary, type 1g skos:exactMatch OMIM:616389 semapv:UnspecifiedMatching +GARD:16100 Trichothiodystrophy 2, photosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +GARD:16100 Trichothiodystrophy 2, photosensitive skos:exactMatch OMIM:616390 semapv:UnspecifiedMatching +GARD:16101 Retinitis pigmentosa 71 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16101 Retinitis pigmentosa 71 skos:exactMatch OMIM:616394 semapv:UnspecifiedMatching +GARD:16102 Trichothiodystrophy 3, photosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +GARD:16102 Trichothiodystrophy 3, photosensitive skos:exactMatch OMIM:616395 semapv:UnspecifiedMatching +GARD:16103 Dystonia 26, myoclonic skos:broadMatch Orphanet:36899 semapv:UnspecifiedMatching +GARD:16103 Dystonia 26, myoclonic skos:exactMatch OMIM:616398 semapv:UnspecifiedMatching +GARD:16104 Brugada syndrome 9 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +GARD:16104 Brugada syndrome 9 skos:exactMatch OMIM:616399 semapv:UnspecifiedMatching +GARD:16105 Microcephaly 14, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16105 Microcephaly 14, primary, autosomal recessive skos:exactMatch OMIM:616402 semapv:UnspecifiedMatching +GARD:16106 Developmental and epileptic encephalopathy 33 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16106 Developmental and epileptic encephalopathy 33 skos:exactMatch OMIM:616409 semapv:UnspecifiedMatching +GARD:16107 Basal ganglia calcification, idiopathic, 6 skos:broadMatch Orphanet:1980 semapv:UnspecifiedMatching +GARD:16107 Basal ganglia calcification, idiopathic, 6 skos:exactMatch OMIM:616413 semapv:UnspecifiedMatching +GARD:16108 Myoclonic-atonic epilepsy skos:broadMatch Orphanet:1942 semapv:UnspecifiedMatching +GARD:16108 Myoclonic-atonic epilepsy skos:exactMatch OMIM:616421 semapv:UnspecifiedMatching +GARD:16109 46,xy sex reversal 10 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +GARD:16109 46,xy sex reversal 10 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +GARD:16109 46,xy sex reversal 10 skos:exactMatch OMIM:616425 semapv:UnspecifiedMatching +GARD:1611 Crisponi syndrome skos:exactMatch Orphanet:1545 semapv:UnspecifiedMatching +GARD:16110 Microphthalmia, isolated, with coloboma 10 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:16110 Microphthalmia, isolated, with coloboma 10 skos:exactMatch OMIM:616428 semapv:UnspecifiedMatching +GARD:16111 Fanconi anemia, complementation group t skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:16111 Fanconi anemia, complementation group t skos:exactMatch OMIM:616435 semapv:UnspecifiedMatching +GARD:16112 Epilepsy, familial temporal lobe, 7 skos:broadMatch Orphanet:101046 semapv:UnspecifiedMatching +GARD:16112 Epilepsy, familial temporal lobe, 7 skos:exactMatch OMIM:616436 semapv:UnspecifiedMatching +GARD:16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:broadMatch Orphanet:275864 semapv:UnspecifiedMatching +GARD:16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch OMIM:616437 semapv:UnspecifiedMatching +GARD:16114 Candidiasis, familial, 9 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +GARD:16114 Candidiasis, familial, 9 skos:exactMatch OMIM:616445 semapv:UnspecifiedMatching +GARD:16115 Zimmermann-laband syndrome 2 skos:broadMatch Orphanet:3473 semapv:UnspecifiedMatching +GARD:16115 Zimmermann-laband syndrome 2 skos:exactMatch OMIM:616455 semapv:UnspecifiedMatching +GARD:16116 Epilepsy, familial temporal lobe, 8 skos:broadMatch Orphanet:101046 semapv:UnspecifiedMatching +GARD:16116 Epilepsy, familial temporal lobe, 8 skos:exactMatch OMIM:616461 semapv:UnspecifiedMatching +GARD:16117 Acrofacial dysostosis, cincinnati type skos:broadMatch Orphanet:1200 semapv:UnspecifiedMatching +GARD:16117 Acrofacial dysostosis, cincinnati type skos:exactMatch OMIM:616462 semapv:UnspecifiedMatching +GARD:16118 Exudative vitreoretinopathy 6 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +GARD:16118 Exudative vitreoretinopathy 6 skos:exactMatch OMIM:616468 semapv:UnspecifiedMatching +GARD:16119 Retinitis pigmentosa 72 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16119 Retinitis pigmentosa 72 skos:exactMatch OMIM:616469 semapv:UnspecifiedMatching +GARD:16120 Ullrich congenital muscular dystrophy 2 skos:broadMatch Orphanet:75840 semapv:UnspecifiedMatching +GARD:16120 Ullrich congenital muscular dystrophy 2 skos:exactMatch OMIM:616470 semapv:UnspecifiedMatching +GARD:16121 Bethlem myopathy 2 skos:broadMatch Orphanet:610 semapv:UnspecifiedMatching +GARD:16121 Bethlem myopathy 2 skos:exactMatch OMIM:616471 semapv:UnspecifiedMatching +GARD:16122 Ciliary dyskinesia, primary, 32 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16122 Ciliary dyskinesia, primary, 32 skos:exactMatch OMIM:616481 semapv:UnspecifiedMatching +GARD:16123 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16123 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch OMIM:616486 semapv:UnspecifiedMatching +GARD:16124 Joubert syndrome 23 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16124 Joubert syndrome 23 skos:exactMatch OMIM:616490 semapv:UnspecifiedMatching +GARD:16125 Cone-rod dystrophy 21 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:16125 Cone-rod dystrophy 21 skos:exactMatch OMIM:616502 semapv:UnspecifiedMatching +GARD:16126 Osteogenesis imperfecta, type xvii skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:16126 Osteogenesis imperfecta, type xvii skos:exactMatch OMIM:616507 semapv:UnspecifiedMatching +GARD:16127 Cataract 44 skos:broadMatch Orphanet:98994 semapv:UnspecifiedMatching +GARD:16127 Cataract 44 skos:exactMatch OMIM:616509 semapv:UnspecifiedMatching +GARD:16128 Maturity-onset diabetes of the young, type 14 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:16128 Maturity-onset diabetes of the young, type 14 skos:exactMatch OMIM:616511 semapv:UnspecifiedMatching +GARD:16129 Achromatopsia 7 skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +GARD:16129 Achromatopsia 7 skos:exactMatch OMIM:616517 semapv:UnspecifiedMatching +GARD:1613 Familial exudative vitreoretinopathy skos:exactMatch Orphanet:891 semapv:UnspecifiedMatching +GARD:1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:133780 semapv:UnspecifiedMatching +GARD:1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:305390 semapv:UnspecifiedMatching +GARD:1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:601813 semapv:UnspecifiedMatching +GARD:1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:605750 semapv:UnspecifiedMatching +GARD:1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:613310 semapv:UnspecifiedMatching +GARD:1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:616468 semapv:UnspecifiedMatching +GARD:1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:617572 semapv:UnspecifiedMatching +GARD:16130 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities skos:broadMatch Orphanet:98889 semapv:UnspecifiedMatching +GARD:16130 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities skos:exactMatch OMIM:616531 semapv:UnspecifiedMatching +GARD:16131 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +GARD:16131 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 skos:exactMatch OMIM:616532 semapv:UnspecifiedMatching +GARD:16132 Thyroid cancer, nonmedullary, 4 skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +GARD:16132 Thyroid cancer, nonmedullary, 4 skos:exactMatch OMIM:616534 semapv:UnspecifiedMatching +GARD:16133 Thyroid cancer, nonmedullary, 5 skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +GARD:16133 Thyroid cancer, nonmedullary, 5 skos:exactMatch OMIM:616535 semapv:UnspecifiedMatching +GARD:16134 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:16134 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 skos:exactMatch OMIM:616538 semapv:UnspecifiedMatching +GARD:16135 Retinitis pigmentosa 73 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16135 Retinitis pigmentosa 73 skos:exactMatch OMIM:616544 semapv:UnspecifiedMatching +GARD:16136 Dyskeratosis congenita, autosomal dominant 6 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +GARD:16136 Dyskeratosis congenita, autosomal dominant 6 skos:broadMatch Orphanet:397692 semapv:UnspecifiedMatching +GARD:16136 Dyskeratosis congenita, autosomal dominant 6 skos:exactMatch OMIM:616553 semapv:UnspecifiedMatching +GARD:16137 Noonan syndrome 9 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:16137 Noonan syndrome 9 skos:exactMatch OMIM:616559 semapv:UnspecifiedMatching +GARD:16138 Retinitis pigmentosa 74 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16138 Retinitis pigmentosa 74 skos:exactMatch OMIM:616562 semapv:UnspecifiedMatching +GARD:16139 Noonan syndrome 10 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:16139 Noonan syndrome 10 skos:exactMatch OMIM:616564 semapv:UnspecifiedMatching +GARD:1614 Cataract-nephropathy-encephalopathy syndrome skos:exactMatch Orphanet:1380 semapv:UnspecifiedMatching +GARD:1614 Cataract-nephropathy-encephalopathy syndrome skos:narrowMatch OMIM:218900 semapv:UnspecifiedMatching +GARD:16140 Cerebrooculofacioskeletal syndrome 3 skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +GARD:16140 Cerebrooculofacioskeletal syndrome 3 skos:exactMatch OMIM:616570 semapv:UnspecifiedMatching +GARD:16141 Immunodeficiency, common variable, 12, with autoimmunity skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:16141 Immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch OMIM:616576 semapv:UnspecifiedMatching +GARD:16142 Adams-oliver syndrome 6 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +GARD:16142 Adams-oliver syndrome 6 skos:exactMatch OMIM:616589 semapv:UnspecifiedMatching +GARD:16143 Cutis laxa, autosomal dominant 3 skos:broadMatch Orphanet:90348 semapv:UnspecifiedMatching +GARD:16143 Cutis laxa, autosomal dominant 3 skos:exactMatch OMIM:616603 semapv:UnspecifiedMatching +GARD:16144 Heimler syndrome 2 skos:broadMatch Orphanet:3220 semapv:UnspecifiedMatching +GARD:16144 Heimler syndrome 2 skos:exactMatch OMIM:616617 semapv:UnspecifiedMatching +GARD:16145 Senior-loken syndrome 9 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:16145 Senior-loken syndrome 9 skos:exactMatch OMIM:616629 semapv:UnspecifiedMatching +GARD:16146 Porokeratosis 9, multiple types skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +GARD:16146 Porokeratosis 9, multiple types skos:exactMatch OMIM:616631 semapv:UnspecifiedMatching +GARD:16147 Developmental and epileptic encephalopathy 34 skos:broadMatch Orphanet:293181 semapv:UnspecifiedMatching +GARD:16147 Developmental and epileptic encephalopathy 34 skos:exactMatch OMIM:616645 semapv:UnspecifiedMatching +GARD:16148 Optic atrophy 8 skos:broadMatch Orphanet:1215 semapv:UnspecifiedMatching +GARD:16148 Optic atrophy 8 skos:exactMatch OMIM:616648 semapv:UnspecifiedMatching +GARD:16149 Spherocytosis, type 2 skos:broadMatch Orphanet:822 semapv:UnspecifiedMatching +GARD:16149 Spherocytosis, type 2 skos:exactMatch OMIM:616649 semapv:UnspecifiedMatching +GARD:16150 Joubert syndrome 24 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16150 Joubert syndrome 24 skos:exactMatch OMIM:616654 semapv:UnspecifiedMatching +GARD:16151 Microcephaly 16, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16151 Microcephaly 16, primary, autosomal recessive skos:exactMatch OMIM:616681 semapv:UnspecifiedMatching +GARD:16152 Dehydrated hereditary stomatocytosis 2 skos:broadMatch Orphanet:3202 semapv:UnspecifiedMatching +GARD:16152 Dehydrated hereditary stomatocytosis 2 skos:exactMatch OMIM:616689 semapv:UnspecifiedMatching +GARD:16153 Myasthenic syndrome, congenital, 19 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:16153 Myasthenic syndrome, congenital, 19 skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:16153 Myasthenic syndrome, congenital, 19 skos:exactMatch OMIM:616720 semapv:UnspecifiedMatching +GARD:16154 Ciliary dyskinesia, primary, 33 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16154 Ciliary dyskinesia, primary, 33 skos:exactMatch OMIM:616726 semapv:UnspecifiedMatching +GARD:16155 Nephrotic syndrome, type 11 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16155 Nephrotic syndrome, type 11 skos:exactMatch OMIM:616730 semapv:UnspecifiedMatching +GARD:16156 Skin creases, congenital symmetric circumferential, 2 skos:broadMatch Orphanet:2505 semapv:UnspecifiedMatching +GARD:16156 Skin creases, congenital symmetric circumferential, 2 skos:exactMatch OMIM:616734 semapv:UnspecifiedMatching +GARD:16157 Woolly hair, autosomal recessive 3 skos:broadMatch Orphanet:170 semapv:UnspecifiedMatching +GARD:16157 Woolly hair, autosomal recessive 3 skos:exactMatch OMIM:616760 semapv:UnspecifiedMatching +GARD:16158 Seckel syndrome 9 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +GARD:16158 Seckel syndrome 9 skos:exactMatch OMIM:616777 semapv:UnspecifiedMatching +GARD:16159 Joubert syndrome 25 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16159 Joubert syndrome 25 skos:exactMatch OMIM:616781 semapv:UnspecifiedMatching +GARD:16160 Joubert syndrome 26 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16160 Joubert syndrome 26 skos:exactMatch OMIM:616784 semapv:UnspecifiedMatching +GARD:16161 Neuroblastoma, susceptibility to, 7 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +GARD:16161 Neuroblastoma, susceptibility to, 7 skos:exactMatch OMIM:616792 semapv:UnspecifiedMatching +GARD:16162 Wilms tumor 6 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +GARD:16162 Wilms tumor 6 skos:exactMatch OMIM:616806 semapv:UnspecifiedMatching +GARD:16163 Meier-gorlin syndrome 6 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +GARD:16163 Meier-gorlin syndrome 6 skos:exactMatch OMIM:616835 semapv:UnspecifiedMatching +GARD:16164 Brachydactyly, type a1, d skos:broadMatch Orphanet:93388 semapv:UnspecifiedMatching +GARD:16164 Brachydactyly, type a1, d skos:exactMatch OMIM:616849 semapv:UnspecifiedMatching +GARD:16165 Advanced sleep phase syndrome, familial, 3 skos:broadMatch Orphanet:164736 semapv:UnspecifiedMatching +GARD:16165 Advanced sleep phase syndrome, familial, 3 skos:exactMatch OMIM:616882 semapv:UnspecifiedMatching +GARD:16166 Nephrotic syndrome, type 12 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16166 Nephrotic syndrome, type 12 skos:exactMatch OMIM:616892 semapv:UnspecifiedMatching +GARD:16167 Nephrotic syndrome, type 13 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16167 Nephrotic syndrome, type 13 skos:exactMatch OMIM:616893 semapv:UnspecifiedMatching +GARD:16168 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:broadMatch Orphanet:2268 semapv:UnspecifiedMatching +GARD:16168 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch OMIM:616910 semapv:UnspecifiedMatching +GARD:16169 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:broadMatch Orphanet:2268 semapv:UnspecifiedMatching +GARD:16169 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch OMIM:616911 semapv:UnspecifiedMatching +GARD:1617 Crossed polysyndactyly skos:exactMatch Orphanet:2935 semapv:UnspecifiedMatching +GARD:1617 Crossed polysyndactyly skos:narrowMatch OMIM:175690 semapv:UnspecifiedMatching +GARD:16170 Coffin-siris syndrome 5 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:16170 Coffin-siris syndrome 5 skos:exactMatch OMIM:616938 semapv:UnspecifiedMatching +GARD:16171 Agammaglobulinemia 8a, autosomal dominant skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +GARD:16171 Agammaglobulinemia 8a, autosomal dominant skos:exactMatch OMIM:616941 semapv:UnspecifiedMatching +GARD:16172 Trichothiodystrophy 6, nonphotosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +GARD:16172 Trichothiodystrophy 6, nonphotosensitive skos:exactMatch OMIM:616943 semapv:UnspecifiedMatching +GARD:16173 Spermatogenic failure 15 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16173 Spermatogenic failure 15 skos:exactMatch OMIM:616950 semapv:UnspecifiedMatching +GARD:16174 Polycystic liver disease 2 with or without kidney cysts skos:broadMatch Orphanet:2924 semapv:UnspecifiedMatching +GARD:16174 Polycystic liver disease 2 with or without kidney cysts skos:exactMatch OMIM:617004 semapv:UnspecifiedMatching +GARD:16175 Developmental and epileptic encephalopathy 38 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16175 Developmental and epileptic encephalopathy 38 skos:exactMatch OMIM:617020 semapv:UnspecifiedMatching +GARD:16176 Retinitis pigmentosa 75 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16176 Retinitis pigmentosa 75 skos:exactMatch OMIM:617023 semapv:UnspecifiedMatching +GARD:16177 Night blindness, congenital stationary, type 1h skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:16177 Night blindness, congenital stationary, type 1h skos:exactMatch OMIM:617024 semapv:UnspecifiedMatching +GARD:16178 Pontocerebellar hypoplasia, type 2f skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +GARD:16178 Pontocerebellar hypoplasia, type 2f skos:exactMatch OMIM:617026 semapv:UnspecifiedMatching +GARD:16180 Hermansky-pudlak syndrome 10 skos:broadMatch Orphanet:183678 semapv:UnspecifiedMatching +GARD:16180 Hermansky-pudlak syndrome 10 skos:exactMatch OMIM:617050 semapv:UnspecifiedMatching +GARD:16181 Meier-gorlin syndrome 7 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +GARD:16181 Meier-gorlin syndrome 7 skos:exactMatch OMIM:617063 semapv:UnspecifiedMatching +GARD:16182 Developmental and epileptic encephalopathy 40 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:16182 Developmental and epileptic encephalopathy 40 skos:exactMatch OMIM:617065 semapv:UnspecifiedMatching +GARD:16183 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 skos:broadMatch Orphanet:254886 semapv:UnspecifiedMatching +GARD:16183 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 skos:exactMatch OMIM:617069 semapv:UnspecifiedMatching +GARD:16184 Nasopharyngeal carcinoma, susceptibility to, 3 skos:broadMatch Orphanet:150 semapv:UnspecifiedMatching +GARD:16184 Nasopharyngeal carcinoma, susceptibility to, 3 skos:exactMatch OMIM:617075 semapv:UnspecifiedMatching +GARD:16185 Short-rib thoracic dysplasia 15 with polydactyly skos:broadMatch Orphanet:289 semapv:UnspecifiedMatching +GARD:16185 Short-rib thoracic dysplasia 15 with polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:16185 Short-rib thoracic dysplasia 15 with polydactyly skos:exactMatch OMIM:617088 semapv:UnspecifiedMatching +GARD:16186 Microcephaly 17, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16186 Microcephaly 17, primary, autosomal recessive skos:exactMatch OMIM:617090 semapv:UnspecifiedMatching +GARD:16187 Ciliary dyskinesia, primary, 34 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16187 Ciliary dyskinesia, primary, 34 skos:exactMatch OMIM:617091 semapv:UnspecifiedMatching +GARD:16188 Ciliary dyskinesia, primary, 35 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16188 Ciliary dyskinesia, primary, 35 skos:exactMatch OMIM:617092 semapv:UnspecifiedMatching +GARD:16189 Short-rib thoracic dysplasia 16 with or without polydactyly skos:broadMatch Orphanet:1515 semapv:UnspecifiedMatching +GARD:16189 Short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch OMIM:617102 semapv:UnspecifiedMatching +GARD:16190 Developmental and epileptic encephalopathy 41 skos:broadMatch Orphanet:1935 semapv:UnspecifiedMatching +GARD:16190 Developmental and epileptic encephalopathy 41 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16190 Developmental and epileptic encephalopathy 41 skos:exactMatch OMIM:617105 semapv:UnspecifiedMatching +GARD:16191 Developmental and epileptic encephalopathy 42 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16191 Developmental and epileptic encephalopathy 42 skos:exactMatch OMIM:617106 semapv:UnspecifiedMatching +GARD:16192 Developmental and epileptic encephalopathy 43 skos:broadMatch Orphanet:2382 semapv:UnspecifiedMatching +GARD:16192 Developmental and epileptic encephalopathy 43 skos:exactMatch OMIM:617113 semapv:UnspecifiedMatching +GARD:16193 Bardet-biedl syndrome 22 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16193 Bardet-biedl syndrome 22 skos:exactMatch OMIM:617119 semapv:UnspecifiedMatching +GARD:16194 Joubert syndrome 27 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16194 Joubert syndrome 27 skos:exactMatch OMIM:617120 semapv:UnspecifiedMatching +GARD:16195 Joubert syndrome 28 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +GARD:16195 Joubert syndrome 28 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16195 Joubert syndrome 28 skos:exactMatch OMIM:617121 semapv:UnspecifiedMatching +GARD:16196 Retinitis pigmentosa 76 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16196 Retinitis pigmentosa 76 skos:exactMatch OMIM:617123 semapv:UnspecifiedMatching +GARD:16197 Orofaciodigital syndrome xv skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +GARD:16197 Orofaciodigital syndrome xv skos:exactMatch OMIM:617127 semapv:UnspecifiedMatching +GARD:16198 Developmental and epileptic encephalopathy 44 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16198 Developmental and epileptic encephalopathy 44 skos:exactMatch OMIM:617132 semapv:UnspecifiedMatching +GARD:16199 Frontometaphyseal dysplasia 2 skos:broadMatch Orphanet:1826 semapv:UnspecifiedMatching +GARD:16199 Frontometaphyseal dysplasia 2 skos:exactMatch OMIM:617137 semapv:UnspecifiedMatching +GARD:162 Cleft palate-large ears-small head syndrome skos:exactMatch Orphanet:2013 semapv:UnspecifiedMatching +GARD:162 Cleft palate-large ears-small head syndrome skos:narrowMatch OMIM:181180 semapv:UnspecifiedMatching +GARD:1620 Cryptogenic organizing pneumonia skos:exactMatch Orphanet:1302 semapv:UnspecifiedMatching +GARD:16200 Aniridia 2 skos:broadMatch Orphanet:250923 semapv:UnspecifiedMatching +GARD:16200 Aniridia 2 skos:exactMatch OMIM:617141 semapv:UnspecifiedMatching +GARD:16201 Aniridia 3 skos:broadMatch Orphanet:250923 semapv:UnspecifiedMatching +GARD:16201 Aniridia 3 skos:exactMatch OMIM:617142 semapv:UnspecifiedMatching +GARD:16202 Myasthenic syndrome, congenital, 20, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:16202 Myasthenic syndrome, congenital, 20, presynaptic skos:exactMatch OMIM:617143 semapv:UnspecifiedMatching +GARD:16203 Developmental and epileptic encephalopathy 45 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16203 Developmental and epileptic encephalopathy 45 skos:exactMatch OMIM:617153 semapv:UnspecifiedMatching +GARD:16204 Myopathy, distal, with rimmed vacuoles skos:broadMatch Orphanet:602 semapv:UnspecifiedMatching +GARD:16204 Myopathy, distal, with rimmed vacuoles skos:exactMatch OMIM:617158 semapv:UnspecifiedMatching +GARD:16205 Developmental and epileptic encephalopathy 46 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16205 Developmental and epileptic encephalopathy 46 skos:exactMatch OMIM:617162 semapv:UnspecifiedMatching +GARD:16206 Developmental and epileptic encephalopathy 47 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16206 Developmental and epileptic encephalopathy 47 skos:exactMatch OMIM:617166 semapv:UnspecifiedMatching +GARD:16207 Aortic aneurysm, familial thoracic 10 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:16207 Aortic aneurysm, familial thoracic 10 skos:exactMatch OMIM:617168 semapv:UnspecifiedMatching +GARD:16208 Intellectual developmental disorder, autosomal recessive 74 skos:broadMatch Orphanet:821 semapv:UnspecifiedMatching +GARD:16208 Intellectual developmental disorder, autosomal recessive 74 skos:exactMatch OMIM:617169 semapv:UnspecifiedMatching +GARD:16209 Ehlers-danlos syndrome, periodontal type, 2 skos:broadMatch Orphanet:75392 semapv:UnspecifiedMatching +GARD:16209 Ehlers-danlos syndrome, periodontal type, 2 skos:exactMatch OMIM:617174 semapv:UnspecifiedMatching +GARD:16210 Periventricular nodular heterotopia 7 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:16210 Periventricular nodular heterotopia 7 skos:exactMatch OMIM:617201 semapv:UnspecifiedMatching +GARD:16211 Amelogenesis imperfecta, hypomaturation type, iia6 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +GARD:16211 Amelogenesis imperfecta, hypomaturation type, iia6 skos:exactMatch OMIM:617217 semapv:UnspecifiedMatching +GARD:16212 Myasthenic syndrome, congenital, 21, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:16212 Myasthenic syndrome, congenital, 21, presynaptic skos:exactMatch OMIM:617239 semapv:UnspecifiedMatching +GARD:16213 Fanconi anemia, complementation group v skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:16213 Fanconi anemia, complementation group v skos:exactMatch OMIM:617243 semapv:UnspecifiedMatching +GARD:16214 Fanconi anemia, complementation group r skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:16214 Fanconi anemia, complementation group r skos:exactMatch OMIM:617244 semapv:UnspecifiedMatching +GARD:16215 Fanconi anemia, complementation group u skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:16215 Fanconi anemia, complementation group u skos:exactMatch OMIM:617247 semapv:UnspecifiedMatching +GARD:16216 Uncombable hair syndrome 2 skos:broadMatch Orphanet:1410 semapv:UnspecifiedMatching +GARD:16216 Uncombable hair syndrome 2 skos:exactMatch OMIM:617251 semapv:UnspecifiedMatching +GARD:16217 Uncombable hair syndrome 3 skos:broadMatch Orphanet:1410 semapv:UnspecifiedMatching +GARD:16217 Uncombable hair syndrome 3 skos:exactMatch OMIM:617252 semapv:UnspecifiedMatching +GARD:16218 Developmental and epileptic encephalopathy 48 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16218 Developmental and epileptic encephalopathy 48 skos:exactMatch OMIM:617276 semapv:UnspecifiedMatching +GARD:16219 Atrial fibrillation, familial, 18 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:16219 Atrial fibrillation, familial, 18 skos:exactMatch OMIM:617280 semapv:UnspecifiedMatching +GARD:16220 Amelogenesis imperfecta, type ij skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +GARD:16220 Amelogenesis imperfecta, type ij skos:exactMatch OMIM:617297 semapv:UnspecifiedMatching +GARD:16221 Retinitis pigmentosa 77 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16221 Retinitis pigmentosa 77 skos:exactMatch OMIM:617304 semapv:UnspecifiedMatching +GARD:16222 Nemaline myopathy 11, autosomal recessive skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +GARD:16222 Nemaline myopathy 11, autosomal recessive skos:exactMatch OMIM:617336 semapv:UnspecifiedMatching +GARD:16223 Developmental and epileptic encephalopathy 52 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16223 Developmental and epileptic encephalopathy 52 skos:exactMatch OMIM:617350 semapv:UnspecifiedMatching +GARD:16224 Developmental and epileptic encephalopathy 53 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16224 Developmental and epileptic encephalopathy 53 skos:exactMatch OMIM:617389 semapv:UnspecifiedMatching +GARD:16225 Developmental and epileptic encephalopathy 54 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16225 Developmental and epileptic encephalopathy 54 skos:exactMatch OMIM:617391 semapv:UnspecifiedMatching +GARD:16226 Bardet-biedl syndrome 21 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:16226 Bardet-biedl syndrome 21 skos:exactMatch OMIM:617406 semapv:UnspecifiedMatching +GARD:16227 Diamond-blackfan anemia 16 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:16227 Diamond-blackfan anemia 16 skos:exactMatch OMIM:617408 semapv:UnspecifiedMatching +GARD:16228 Diamond-blackfan anemia 17 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:16228 Diamond-blackfan anemia 17 skos:exactMatch OMIM:617409 semapv:UnspecifiedMatching +GARD:16229 Retinitis pigmentosa 78 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16229 Retinitis pigmentosa 78 skos:exactMatch OMIM:617433 semapv:UnspecifiedMatching +GARD:16230 Bleeding disorder, platelet-type, 21 skos:broadMatch Orphanet:851 semapv:UnspecifiedMatching +GARD:16230 Bleeding disorder, platelet-type, 21 skos:exactMatch OMIM:617443 semapv:UnspecifiedMatching +GARD:16231 Retinitis pigmentosa 79 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16231 Retinitis pigmentosa 79 skos:exactMatch OMIM:617460 semapv:UnspecifiedMatching +GARD:16232 Neurodevelopmental disorder with involuntary movements skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16232 Neurodevelopmental disorder with involuntary movements skos:exactMatch OMIM:617493 semapv:UnspecifiedMatching +GARD:16233 Microcephaly 18, primary, autosomal dominant skos:broadMatch Orphanet:2514 semapv:UnspecifiedMatching +GARD:16233 Microcephaly 18, primary, autosomal dominant skos:exactMatch OMIM:617520 semapv:UnspecifiedMatching +GARD:16234 Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development skos:broadMatch Orphanet:2744 semapv:UnspecifiedMatching +GARD:16234 Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development skos:exactMatch OMIM:617542 semapv:UnspecifiedMatching +GARD:16235 Cohen-gibson syndrome skos:broadMatch Orphanet:3447 semapv:UnspecifiedMatching +GARD:16235 Cohen-gibson syndrome skos:exactMatch OMIM:617561 semapv:UnspecifiedMatching +GARD:16236 Meckel syndrome 13 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:16236 Meckel syndrome 13 skos:exactMatch OMIM:617562 semapv:UnspecifiedMatching +GARD:16237 Perrault syndrome 6 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +GARD:16237 Perrault syndrome 6 skos:exactMatch OMIM:617565 semapv:UnspecifiedMatching +GARD:16238 Exudative vitreoretinopathy 7 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +GARD:16238 Exudative vitreoretinopathy 7 skos:exactMatch OMIM:617572 semapv:UnspecifiedMatching +GARD:16239 Ciliary dyskinesia, primary, 37 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16239 Ciliary dyskinesia, primary, 37 skos:exactMatch OMIM:617577 semapv:UnspecifiedMatching +GARD:16240 Mosaic variegated aneuploidy syndrome 3 skos:broadMatch Orphanet:1052 semapv:UnspecifiedMatching +GARD:16240 Mosaic variegated aneuploidy syndrome 3 skos:exactMatch OMIM:617598 semapv:UnspecifiedMatching +GARD:16241 Developmental and epileptic encephalopathy 55 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16241 Developmental and epileptic encephalopathy 55 skos:exactMatch OMIM:617599 semapv:UnspecifiedMatching +GARD:16242 Polycystic kidney disease 5 skos:broadMatch Orphanet:731 semapv:UnspecifiedMatching +GARD:16242 Polycystic kidney disease 5 skos:exactMatch OMIM:617610 semapv:UnspecifiedMatching +GARD:16243 Joubert syndrome 30 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16243 Joubert syndrome 30 skos:exactMatch OMIM:617622 semapv:UnspecifiedMatching +GARD:16244 Blepharocheilodontic syndrome 2 skos:broadMatch Orphanet:1997 semapv:UnspecifiedMatching +GARD:16244 Blepharocheilodontic syndrome 2 skos:exactMatch OMIM:617681 semapv:UnspecifiedMatching +GARD:16245 Spermatogenic failure 22 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16245 Spermatogenic failure 22 skos:exactMatch OMIM:617706 semapv:UnspecifiedMatching +GARD:16246 Spermatogenic failure 23 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16246 Spermatogenic failure 23 skos:exactMatch OMIM:617707 semapv:UnspecifiedMatching +GARD:16247 Galloway-mowat syndrome 3 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:16247 Galloway-mowat syndrome 3 skos:exactMatch OMIM:617729 semapv:UnspecifiedMatching +GARD:16248 Galloway-mowat syndrome 4 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:16248 Galloway-mowat syndrome 4 skos:exactMatch OMIM:617730 semapv:UnspecifiedMatching +GARD:16249 Galloway-mowat syndrome 5 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:16249 Galloway-mowat syndrome 5 skos:exactMatch OMIM:617731 semapv:UnspecifiedMatching +GARD:16250 Myopathy, centronuclear, 6, with fiber-type disproportion skos:broadMatch Orphanet:2020 semapv:UnspecifiedMatching +GARD:16250 Myopathy, centronuclear, 6, with fiber-type disproportion skos:exactMatch OMIM:617760 semapv:UnspecifiedMatching +GARD:16251 Joubert syndrome 31 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16251 Joubert syndrome 31 skos:exactMatch OMIM:617761 semapv:UnspecifiedMatching +GARD:16252 Retinitis pigmentosa 80 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16252 Retinitis pigmentosa 80 skos:exactMatch OMIM:617781 semapv:UnspecifiedMatching +GARD:16253 Microcephaly 19, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16253 Microcephaly 19, primary, autosomal recessive skos:exactMatch OMIM:617800 semapv:UnspecifiedMatching +GARD:16254 Coffin-siris syndrome 6 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:16254 Coffin-siris syndrome 6 skos:exactMatch OMIM:617808 semapv:UnspecifiedMatching +GARD:16255 Geleophysic dysplasia 3 skos:broadMatch Orphanet:2623 semapv:UnspecifiedMatching +GARD:16255 Geleophysic dysplasia 3 skos:exactMatch OMIM:617809 semapv:UnspecifiedMatching +GARD:16256 Ehlers-danlos syndrome, arthrochalasia type, 2 skos:broadMatch Orphanet:1899 semapv:UnspecifiedMatching +GARD:16256 Ehlers-danlos syndrome, arthrochalasia type, 2 skos:exactMatch OMIM:617821 semapv:UnspecifiedMatching +GARD:16257 Glucocorticoid deficiency 5 skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +GARD:16257 Glucocorticoid deficiency 5 skos:exactMatch OMIM:617825 semapv:UnspecifiedMatching +GARD:16258 Developmental and epileptic encephalopathy 92 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16258 Developmental and epileptic encephalopathy 92 skos:exactMatch OMIM:617829 semapv:UnspecifiedMatching +GARD:16259 Developmental and epileptic encephalopathy 58 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16259 Developmental and epileptic encephalopathy 58 skos:exactMatch OMIM:617830 semapv:UnspecifiedMatching +GARD:1626 Currarino syndrome skos:exactMatch Orphanet:1552 semapv:UnspecifiedMatching +GARD:1626 Currarino syndrome skos:narrowMatch OMIM:176450 semapv:UnspecifiedMatching +GARD:16260 Intellectual developmental disorder, autosomal dominant 55, with seizures skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16260 Intellectual developmental disorder, autosomal dominant 55, with seizures skos:exactMatch OMIM:617831 semapv:UnspecifiedMatching +GARD:16261 Developmental delay and seizures with or without movement abnormalities skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16261 Developmental delay and seizures with or without movement abnormalities skos:exactMatch OMIM:617836 semapv:UnspecifiedMatching +GARD:16262 Amyotrophic lateral sclerosis 23 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:16262 Amyotrophic lateral sclerosis 23 skos:exactMatch OMIM:617839 semapv:UnspecifiedMatching +GARD:16263 Li-fraumeni syndrome 2 skos:broadMatch Orphanet:524 semapv:UnspecifiedMatching +GARD:16263 Li-fraumeni syndrome 2 skos:exactMatch OMIM:609265 semapv:UnspecifiedMatching +GARD:16264 Fanconi anemia, complementation group s skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:16264 Fanconi anemia, complementation group s skos:exactMatch OMIM:617883 semapv:UnspecifiedMatching +GARD:16265 Amyotrophic lateral sclerosis, susceptibility to, 24 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:16265 Amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch OMIM:617892 semapv:UnspecifiedMatching +GARD:16266 Leukodystrophy, hypomyelinating, 14 skos:broadMatch Orphanet:139441 semapv:UnspecifiedMatching +GARD:16266 Leukodystrophy, hypomyelinating, 14 skos:exactMatch OMIM:617899 semapv:UnspecifiedMatching +GARD:16267 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +GARD:16267 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:exactMatch OMIM:617900 semapv:UnspecifiedMatching +GARD:16268 Microcephaly 20, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16268 Microcephaly 20, primary, autosomal recessive skos:exactMatch OMIM:617914 semapv:UnspecifiedMatching +GARD:16269 Epilepsy, juvenile myoclonic, susceptibility to, 10 skos:broadMatch Orphanet:307 semapv:UnspecifiedMatching +GARD:16269 Epilepsy, juvenile myoclonic, susceptibility to, 10 skos:exactMatch OMIM:617924 semapv:UnspecifiedMatching +GARD:16270 Developmental and epileptic encephalopathy 60 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:16270 Developmental and epileptic encephalopathy 60 skos:exactMatch OMIM:617929 semapv:UnspecifiedMatching +GARD:16271 Developmental and epileptic encephalopathy 62 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16271 Developmental and epileptic encephalopathy 62 skos:exactMatch OMIM:617938 semapv:UnspecifiedMatching +GARD:16272 Shwachman-diamond syndrome 2 skos:broadMatch Orphanet:811 semapv:UnspecifiedMatching +GARD:16272 Shwachman-diamond syndrome 2 skos:exactMatch OMIM:617941 semapv:UnspecifiedMatching +GARD:16273 Elliptocytosis 3 skos:broadMatch Orphanet:288 semapv:UnspecifiedMatching +GARD:16273 Elliptocytosis 3 skos:exactMatch OMIM:617948 semapv:UnspecifiedMatching +GARD:16274 Spermatogenic failure 25 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16274 Spermatogenic failure 25 skos:exactMatch OMIM:617960 semapv:UnspecifiedMatching +GARD:16275 Rh-null, amorph type skos:broadMatch Orphanet:71275 semapv:UnspecifiedMatching +GARD:16275 Rh-null, amorph type skos:exactMatch OMIM:617970 semapv:UnspecifiedMatching +GARD:16276 Methemoglobinemia, beta type skos:broadMatch Orphanet:330041 semapv:UnspecifiedMatching +GARD:16276 Methemoglobinemia, beta type skos:exactMatch OMIM:617971 semapv:UnspecifiedMatching +GARD:16277 Methemoglobinemia, alpha type skos:broadMatch Orphanet:330041 semapv:UnspecifiedMatching +GARD:16277 Methemoglobinemia, alpha type skos:exactMatch OMIM:617973 semapv:UnspecifiedMatching +GARD:16278 Microcephaly 21, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16278 Microcephaly 21, primary, autosomal recessive skos:exactMatch OMIM:617983 semapv:UnspecifiedMatching +GARD:16279 Microcephaly 22, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16279 Microcephaly 22, primary, autosomal recessive skos:exactMatch OMIM:617984 semapv:UnspecifiedMatching +GARD:16280 Microcephaly 23, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16280 Microcephaly 23, primary, autosomal recessive skos:exactMatch OMIM:617985 semapv:UnspecifiedMatching +GARD:16281 Tumoral calcinosis, hyperphosphatemic, familial, 2 skos:broadMatch Orphanet:306661 semapv:UnspecifiedMatching +GARD:16281 Tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch OMIM:617993 semapv:UnspecifiedMatching +GARD:16282 Tumoral calcinosis, hyperphosphatemic, familial, 3 skos:broadMatch Orphanet:306661 semapv:UnspecifiedMatching +GARD:16282 Tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch OMIM:617994 semapv:UnspecifiedMatching +GARD:16283 Developmental and epileptic encephalopathy 65 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16283 Developmental and epileptic encephalopathy 65 skos:exactMatch OMIM:618008 semapv:UnspecifiedMatching +GARD:16284 Hyperekplexia 4 skos:broadMatch Orphanet:3197 semapv:UnspecifiedMatching +GARD:16284 Hyperekplexia 4 skos:exactMatch OMIM:618011 semapv:UnspecifiedMatching +GARD:16285 Developmental and epileptic encephalopathy 93 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16285 Developmental and epileptic encephalopathy 93 skos:exactMatch OMIM:618012 semapv:UnspecifiedMatching +GARD:16286 Tetraamelia syndrome 2 skos:broadMatch Orphanet:3301 semapv:UnspecifiedMatching +GARD:16286 Tetraamelia syndrome 2 skos:exactMatch OMIM:618021 semapv:UnspecifiedMatching +GARD:16287 Coffin-siris syndrome 7 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:16287 Coffin-siris syndrome 7 skos:exactMatch OMIM:618027 semapv:UnspecifiedMatching +GARD:16288 Ciliary dyskinesia, primary, 38 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16288 Ciliary dyskinesia, primary, 38 skos:exactMatch OMIM:618063 semapv:UnspecifiedMatching +GARD:16289 Pontocerebellar hypoplasia, type 1d skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +GARD:16289 Pontocerebellar hypoplasia, type 1d skos:exactMatch OMIM:618065 semapv:UnspecifiedMatching +GARD:1629 Cutaneous larva migrans skos:exactMatch Orphanet:423717 semapv:UnspecifiedMatching +GARD:16290 Spermatogenic failure 28 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16290 Spermatogenic failure 28 skos:exactMatch OMIM:618086 semapv:UnspecifiedMatching +GARD:16291 Spermatogenic failure 30 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16291 Spermatogenic failure 30 skos:exactMatch OMIM:618110 semapv:UnspecifiedMatching +GARD:16292 Spermatogenic failure 32 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16292 Spermatogenic failure 32 skos:exactMatch OMIM:618115 semapv:UnspecifiedMatching +GARD:16293 Polydactyly, postaxial, type a8 skos:broadMatch Orphanet:289 semapv:UnspecifiedMatching +GARD:16293 Polydactyly, postaxial, type a8 skos:exactMatch OMIM:618123 semapv:UnspecifiedMatching +GARD:16294 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:16294 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 skos:exactMatch OMIM:618135 semapv:UnspecifiedMatching +GARD:16295 Developmental and epileptic encephalopathy 67 skos:broadMatch Orphanet:2382 semapv:UnspecifiedMatching +GARD:16295 Developmental and epileptic encephalopathy 67 skos:exactMatch OMIM:618141 semapv:UnspecifiedMatching +GARD:16296 Hennekam lymphangiectasia-lymphedema syndrome 3 skos:broadMatch Orphanet:2136 semapv:UnspecifiedMatching +GARD:16296 Hennekam lymphangiectasia-lymphedema syndrome 3 skos:exactMatch OMIM:618154 semapv:UnspecifiedMatching +GARD:16297 Joubert syndrome 35 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16297 Joubert syndrome 35 skos:exactMatch OMIM:618161 semapv:UnspecifiedMatching +GARD:16298 Retinitis pigmentosa 83 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16298 Retinitis pigmentosa 83 skos:exactMatch OMIM:618173 semapv:UnspecifiedMatching +GARD:16299 Nephrotic syndrome, type 17 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16299 Nephrotic syndrome, type 17 skos:exactMatch OMIM:618176 semapv:UnspecifiedMatching +GARD:16300 Nephrotic syndrome, type 18 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16300 Nephrotic syndrome, type 18 skos:exactMatch OMIM:618177 semapv:UnspecifiedMatching +GARD:16301 Nephrotic syndrome, type 19 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16301 Nephrotic syndrome, type 19 skos:exactMatch OMIM:618178 semapv:UnspecifiedMatching +GARD:16302 Microcephaly 24, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16302 Microcephaly 24, primary, autosomal recessive skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16302 Microcephaly 24, primary, autosomal recessive skos:exactMatch OMIM:618179 semapv:UnspecifiedMatching +GARD:16303 Periventricular nodular heterotopia 8 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:16303 Periventricular nodular heterotopia 8 skos:exactMatch OMIM:618185 semapv:UnspecifiedMatching +GARD:16304 Hyperparathyroidism, transient neonatal skos:broadMatch Orphanet:417 semapv:UnspecifiedMatching +GARD:16304 Hyperparathyroidism, transient neonatal skos:exactMatch OMIM:618188 semapv:UnspecifiedMatching +GARD:16305 Cardiomyopathy, dilated, 2c skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:16305 Cardiomyopathy, dilated, 2c skos:exactMatch OMIM:618189 semapv:UnspecifiedMatching +GARD:16306 Intellectual developmental disorder and retinitis pigmentosa skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16306 Intellectual developmental disorder and retinitis pigmentosa skos:exactMatch OMIM:618195 semapv:UnspecifiedMatching +GARD:16307 Capillary malformation-arteriovenous malformation 2 skos:broadMatch Orphanet:1053 semapv:UnspecifiedMatching +GARD:16307 Capillary malformation-arteriovenous malformation 2 skos:exactMatch OMIM:618196 semapv:UnspecifiedMatching +GARD:16308 Myasthenic syndrome, congenital, 23, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:16308 Myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch OMIM:618197 semapv:UnspecifiedMatching +GARD:16309 Myasthenic syndrome, congenital, 24, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:16309 Myasthenic syndrome, congenital, 24, presynaptic skos:exactMatch OMIM:618198 semapv:UnspecifiedMatching +GARD:16310 Developmental and epileptic encephalopathy 68 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16310 Developmental and epileptic encephalopathy 68 skos:exactMatch OMIM:618201 semapv:UnspecifiedMatching +GARD:16311 Retinitis pigmentosa 84 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16311 Retinitis pigmentosa 84 skos:exactMatch OMIM:618220 semapv:UnspecifiedMatching +GARD:16312 Mitochondrial complex i deficiency, nuclear type 2 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16312 Mitochondrial complex i deficiency, nuclear type 2 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16312 Mitochondrial complex i deficiency, nuclear type 2 skos:exactMatch OMIM:618222 semapv:UnspecifiedMatching +GARD:16313 Mitochondrial complex i deficiency, nuclear type 3 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16313 Mitochondrial complex i deficiency, nuclear type 3 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16313 Mitochondrial complex i deficiency, nuclear type 3 skos:exactMatch OMIM:618224 semapv:UnspecifiedMatching +GARD:16314 Mitochondrial complex i deficiency, nuclear type 4 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16314 Mitochondrial complex i deficiency, nuclear type 4 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16314 Mitochondrial complex i deficiency, nuclear type 4 skos:exactMatch OMIM:618225 semapv:UnspecifiedMatching +GARD:16315 Mitochondrial complex i deficiency, nuclear type 5 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16315 Mitochondrial complex i deficiency, nuclear type 5 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16315 Mitochondrial complex i deficiency, nuclear type 5 skos:exactMatch OMIM:618226 semapv:UnspecifiedMatching +GARD:16316 Mitochondrial complex i deficiency, nuclear type 6 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16316 Mitochondrial complex i deficiency, nuclear type 6 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16316 Mitochondrial complex i deficiency, nuclear type 6 skos:broadMatch Orphanet:70474 semapv:UnspecifiedMatching +GARD:16316 Mitochondrial complex i deficiency, nuclear type 6 skos:exactMatch OMIM:618228 semapv:UnspecifiedMatching +GARD:16317 Mitochondrial complex i deficiency, nuclear type 7 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16317 Mitochondrial complex i deficiency, nuclear type 7 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16317 Mitochondrial complex i deficiency, nuclear type 7 skos:exactMatch OMIM:618229 semapv:UnspecifiedMatching +GARD:16318 Mitochondrial complex i deficiency, nuclear type 8 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16318 Mitochondrial complex i deficiency, nuclear type 8 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16318 Mitochondrial complex i deficiency, nuclear type 8 skos:exactMatch OMIM:618230 semapv:UnspecifiedMatching +GARD:16319 Mitochondrial complex i deficiency, nuclear type 9 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16319 Mitochondrial complex i deficiency, nuclear type 9 skos:exactMatch OMIM:618232 semapv:UnspecifiedMatching +GARD:16320 Mitochondrial complex i deficiency, nuclear type 10 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16320 Mitochondrial complex i deficiency, nuclear type 10 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16320 Mitochondrial complex i deficiency, nuclear type 10 skos:exactMatch OMIM:618233 semapv:UnspecifiedMatching +GARD:16321 Mitochondrial complex i deficiency, nuclear type 11 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16321 Mitochondrial complex i deficiency, nuclear type 11 skos:exactMatch OMIM:618234 semapv:UnspecifiedMatching +GARD:16322 Mitochondrial complex i deficiency, nuclear type 14 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16322 Mitochondrial complex i deficiency, nuclear type 14 skos:exactMatch OMIM:618236 semapv:UnspecifiedMatching +GARD:16323 Mitochondrial complex i deficiency, nuclear type 15 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16323 Mitochondrial complex i deficiency, nuclear type 15 skos:exactMatch OMIM:618237 semapv:UnspecifiedMatching +GARD:16324 Mitochondrial complex i deficiency, nuclear type 16 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16324 Mitochondrial complex i deficiency, nuclear type 16 skos:exactMatch OMIM:618238 semapv:UnspecifiedMatching +GARD:16325 Mitochondrial complex i deficiency, nuclear type 18 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16325 Mitochondrial complex i deficiency, nuclear type 18 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16325 Mitochondrial complex i deficiency, nuclear type 18 skos:exactMatch OMIM:618240 semapv:UnspecifiedMatching +GARD:16326 Mitochondrial complex i deficiency, nuclear type 19 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:16326 Mitochondrial complex i deficiency, nuclear type 19 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16326 Mitochondrial complex i deficiency, nuclear type 19 skos:exactMatch OMIM:618241 semapv:UnspecifiedMatching +GARD:16327 Mitochondrial complex i deficiency, nuclear type 21 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16327 Mitochondrial complex i deficiency, nuclear type 21 skos:exactMatch OMIM:618242 semapv:UnspecifiedMatching +GARD:16328 Mitochondrial complex i deficiency, nuclear type 24 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16328 Mitochondrial complex i deficiency, nuclear type 24 skos:exactMatch OMIM:618245 semapv:UnspecifiedMatching +GARD:16329 Mitochondrial complex i deficiency, nuclear type 25 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16329 Mitochondrial complex i deficiency, nuclear type 25 skos:exactMatch OMIM:618246 semapv:UnspecifiedMatching +GARD:1633 Cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch Orphanet:2881 semapv:UnspecifiedMatching +GARD:1633 Cutaneous photosensitivity-lethal colitis syndrome skos:narrowMatch OMIM:219095 semapv:UnspecifiedMatching +GARD:16330 Mitochondrial complex i deficiency, nuclear type 29 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16330 Mitochondrial complex i deficiency, nuclear type 29 skos:exactMatch OMIM:618250 semapv:UnspecifiedMatching +GARD:16331 Mitochondrial complex i deficiency, nuclear type 31 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16331 Mitochondrial complex i deficiency, nuclear type 31 skos:exactMatch OMIM:618251 semapv:UnspecifiedMatching +GARD:16332 Mitochondrial complex i deficiency, nuclear type 33 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16332 Mitochondrial complex i deficiency, nuclear type 33 skos:exactMatch OMIM:618253 semapv:UnspecifiedMatching +GARD:16333 Mirror movements 4 skos:broadMatch Orphanet:238722 semapv:UnspecifiedMatching +GARD:16333 Mirror movements 4 skos:exactMatch OMIM:618264 semapv:UnspecifiedMatching +GARD:16334 Epidermodysplasia verruciformis, susceptibility to, 3 skos:broadMatch Orphanet:302 semapv:UnspecifiedMatching +GARD:16334 Epidermodysplasia verruciformis, susceptibility to, 3 skos:exactMatch OMIM:618267 semapv:UnspecifiedMatching +GARD:16335 Hypotrichosis 14 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:16335 Hypotrichosis 14 skos:exactMatch OMIM:618275 semapv:UnspecifiedMatching +GARD:16336 Developmental and epileptic encephalopathy 70 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:16336 Developmental and epileptic encephalopathy 70 skos:exactMatch OMIM:618298 semapv:UnspecifiedMatching +GARD:16337 Epidermodysplasia verruciformis, susceptibility to, 5 skos:broadMatch Orphanet:302 semapv:UnspecifiedMatching +GARD:16337 Epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch OMIM:618309 semapv:UnspecifiedMatching +GARD:16338 Diamond-blackfan anemia 18 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:16338 Diamond-blackfan anemia 18 skos:exactMatch OMIM:618310 semapv:UnspecifiedMatching +GARD:16339 Diamond-blackfan anemia 19 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:16339 Diamond-blackfan anemia 19 skos:exactMatch OMIM:618312 semapv:UnspecifiedMatching +GARD:16340 Diamond-blackfan anemia 20 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:16340 Diamond-blackfan anemia 20 skos:exactMatch OMIM:618313 semapv:UnspecifiedMatching +GARD:16341 Myasthenic syndrome, congenital, 25, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:16341 Myasthenic syndrome, congenital, 25, presynaptic skos:exactMatch OMIM:618323 semapv:UnspecifiedMatching +GARD:16342 Retinitis pigmentosa 85 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16342 Retinitis pigmentosa 85 skos:exactMatch OMIM:618345 semapv:UnspecifiedMatching +GARD:16343 Galloway-mowat syndrome 6 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:16343 Galloway-mowat syndrome 6 skos:exactMatch OMIM:618347 semapv:UnspecifiedMatching +GARD:16344 Galloway-mowat syndrome 7 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:16344 Galloway-mowat syndrome 7 skos:exactMatch OMIM:618348 semapv:UnspecifiedMatching +GARD:16345 Galloway-mowat syndrome 8 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:16345 Galloway-mowat syndrome 8 skos:exactMatch OMIM:618349 semapv:UnspecifiedMatching +GARD:16346 Microcephaly 25, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +GARD:16346 Microcephaly 25, primary, autosomal recessive skos:exactMatch OMIM:618351 semapv:UnspecifiedMatching +GARD:16347 Coffin-siris syndrome 8 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:16347 Coffin-siris syndrome 8 skos:exactMatch OMIM:618362 semapv:UnspecifiedMatching +GARD:16348 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:broadMatch Orphanet:93359 semapv:UnspecifiedMatching +GARD:16348 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch OMIM:618395 semapv:UnspecifiedMatching +GARD:16349 Developmental and epileptic encephalopathy 74 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16349 Developmental and epileptic encephalopathy 74 skos:exactMatch OMIM:618396 semapv:UnspecifiedMatching +GARD:16350 Cataract 48 skos:broadMatch Orphanet:98994 semapv:UnspecifiedMatching +GARD:16350 Cataract 48 skos:exactMatch OMIM:618415 semapv:UnspecifiedMatching +GARD:16351 Arthrogryposis, distal, type 2b2 skos:broadMatch Orphanet:1146 semapv:UnspecifiedMatching +GARD:16351 Arthrogryposis, distal, type 2b2 skos:broadMatch Orphanet:1147 semapv:UnspecifiedMatching +GARD:16351 Arthrogryposis, distal, type 2b2 skos:exactMatch OMIM:618435 semapv:UnspecifiedMatching +GARD:16352 Developmental and epileptic encephalopathy 75 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16352 Developmental and epileptic encephalopathy 75 skos:exactMatch OMIM:618437 semapv:UnspecifiedMatching +GARD:16353 Ciliary dyskinesia, primary, 41 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16353 Ciliary dyskinesia, primary, 41 skos:exactMatch OMIM:618449 semapv:UnspecifiedMatching +GARD:16354 Paragangliomas 6 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:16354 Paragangliomas 6 skos:exactMatch OMIM:618464 semapv:UnspecifiedMatching +GARD:16355 Developmental and epileptic encephalopathy 76 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16355 Developmental and epileptic encephalopathy 76 skos:exactMatch OMIM:618468 semapv:UnspecifiedMatching +GARD:16356 Paragangliomas 7 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:16356 Paragangliomas 7 skos:exactMatch OMIM:618475 semapv:UnspecifiedMatching +GARD:16357 Noonan syndrome 11 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:16357 Noonan syndrome 11 skos:exactMatch OMIM:618499 semapv:UnspecifiedMatching +GARD:16358 Coffin-siris syndrome 10 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:16358 Coffin-siris syndrome 10 skos:exactMatch OMIM:618506 semapv:UnspecifiedMatching +GARD:16359 Leber congenital amaurosis 19 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:16359 Leber congenital amaurosis 19 skos:exactMatch OMIM:618513 semapv:UnspecifiedMatching +GARD:16360 Immunodeficiency 64 skos:broadMatch Orphanet:3261 semapv:UnspecifiedMatching +GARD:16360 Immunodeficiency 64 skos:exactMatch OMIM:618534 semapv:UnspecifiedMatching +GARD:16361 Ectodermal dysplasia 15, hypohidrotic/hair type skos:broadMatch Orphanet:248 semapv:UnspecifiedMatching +GARD:16361 Ectodermal dysplasia 15, hypohidrotic/hair type skos:exactMatch OMIM:618535 semapv:UnspecifiedMatching +GARD:16362 Trichothiodystrophy 7, nonphotosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +GARD:16362 Trichothiodystrophy 7, nonphotosensitive skos:exactMatch OMIM:618546 semapv:UnspecifiedMatching +GARD:16363 Multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16363 Multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch OMIM:618548 semapv:UnspecifiedMatching +GARD:16364 Night blindness, congenital stationary, type1i skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:16364 Night blindness, congenital stationary, type1i skos:exactMatch OMIM:618555 semapv:UnspecifiedMatching +GARD:16365 Developmental and epileptic encephalopathy 78 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16365 Developmental and epileptic encephalopathy 78 skos:exactMatch OMIM:618557 semapv:UnspecifiedMatching +GARD:16366 Developmental and epileptic encephalopathy 79 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16366 Developmental and epileptic encephalopathy 79 skos:exactMatch OMIM:618559 semapv:UnspecifiedMatching +GARD:16367 Intellectual developmental disorder, autosomal dominant 60, with seizures skos:broadMatch Orphanet:1942 semapv:UnspecifiedMatching +GARD:16367 Intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch OMIM:618587 semapv:UnspecifiedMatching +GARD:16368 Retinitis pigmentosa 86 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16368 Retinitis pigmentosa 86 skos:exactMatch OMIM:618613 semapv:UnspecifiedMatching +GARD:16369 Noonan syndrome 12 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:16369 Noonan syndrome 12 skos:exactMatch OMIM:618624 semapv:UnspecifiedMatching +GARD:16370 Usher syndrome, type 1m skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:16370 Usher syndrome, type 1m skos:exactMatch OMIM:618632 semapv:UnspecifiedMatching +GARD:16371 Zimmermann-laband syndrome 3 skos:broadMatch Orphanet:3473 semapv:UnspecifiedMatching +GARD:16371 Zimmermann-laband syndrome 3 skos:exactMatch OMIM:618658 semapv:UnspecifiedMatching +GARD:16372 Sitosterolemia 2 skos:broadMatch Orphanet:2882 semapv:UnspecifiedMatching +GARD:16372 Sitosterolemia 2 skos:exactMatch OMIM:618666 semapv:UnspecifiedMatching +GARD:16373 Ciliary dyskinesia, primary, 42 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16373 Ciliary dyskinesia, primary, 42 skos:exactMatch OMIM:618695 semapv:UnspecifiedMatching +GARD:16374 Retinitis pigmentosa 87 with choroidal involvement skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16374 Retinitis pigmentosa 87 with choroidal involvement skos:exactMatch OMIM:618697 semapv:UnspecifiedMatching +GARD:16375 Neutropenia, severe congenital, 8, autosomal dominant skos:broadMatch Orphanet:486 semapv:UnspecifiedMatching +GARD:16375 Neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch OMIM:618752 semapv:UnspecifiedMatching +GARD:16376 Joubert syndrome 36 skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +GARD:16376 Joubert syndrome 36 skos:exactMatch OMIM:618763 semapv:UnspecifiedMatching +GARD:16377 Mitochondrial complex iii deficiency, nuclear type 10 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:16377 Mitochondrial complex iii deficiency, nuclear type 10 skos:exactMatch OMIM:618775 semapv:UnspecifiedMatching +GARD:16378 Mitochondrial complex i deficiency, nuclear type 34 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16378 Mitochondrial complex i deficiency, nuclear type 34 skos:exactMatch OMIM:618776 semapv:UnspecifiedMatching +GARD:16379 Coffin-siris syndrome 11 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:16379 Coffin-siris syndrome 11 skos:exactMatch OMIM:618779 semapv:UnspecifiedMatching +GARD:1638 Autosomal recessive cutis laxa type 2A skos:exactMatch Orphanet:357058 semapv:UnspecifiedMatching +GARD:1638 Autosomal recessive cutis laxa type 2A skos:narrowMatch OMIM:219200 semapv:UnspecifiedMatching +GARD:1638 Autosomal recessive cutis laxa type 2A skos:narrowMatch OMIM:278250 semapv:UnspecifiedMatching +GARD:16380 Ciliary dyskinesia, primary, 44 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16380 Ciliary dyskinesia, primary, 44 skos:exactMatch OMIM:618781 semapv:UnspecifiedMatching +GARD:16381 Imagawa-matsumoto syndrome skos:broadMatch Orphanet:3447 semapv:UnspecifiedMatching +GARD:16381 Imagawa-matsumoto syndrome skos:exactMatch OMIM:618786 semapv:UnspecifiedMatching +GARD:16382 Juvenile arthritis skos:broadMatch Orphanet:85414 semapv:UnspecifiedMatching +GARD:16382 Juvenile arthritis skos:exactMatch OMIM:618795 semapv:UnspecifiedMatching +GARD:16383 Ciliary dyskinesia, primary, 45 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:16383 Ciliary dyskinesia, primary, 45 skos:exactMatch OMIM:618801 semapv:UnspecifiedMatching +GARD:16384 Basal ganglia calcification, idiopathic, 8, autosomal recessive skos:broadMatch Orphanet:1980 semapv:UnspecifiedMatching +GARD:16384 Basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch OMIM:618824 semapv:UnspecifiedMatching +GARD:16385 Retinitis pigmentosa 88 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:16385 Retinitis pigmentosa 88 skos:exactMatch OMIM:618826 semapv:UnspecifiedMatching +GARD:16386 Alopecia-intellectual disability syndrome 4 skos:broadMatch Orphanet:2850 semapv:UnspecifiedMatching +GARD:16386 Alopecia-intellectual disability syndrome 4 skos:exactMatch OMIM:618840 semapv:UnspecifiedMatching +GARD:16387 Hypogonadotropic hypogonadism 25 with anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:16387 Hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch OMIM:618841 semapv:UnspecifiedMatching +GARD:16388 Diabetes mellitus, permanent neonatal, 2 skos:broadMatch Orphanet:99885 semapv:UnspecifiedMatching +GARD:16388 Diabetes mellitus, permanent neonatal, 2 skos:exactMatch OMIM:618856 semapv:UnspecifiedMatching +GARD:16389 Diabetes mellitus, permanent neonatal, 3 skos:broadMatch Orphanet:99885 semapv:UnspecifiedMatching +GARD:16389 Diabetes mellitus, permanent neonatal, 3 skos:exactMatch OMIM:618857 semapv:UnspecifiedMatching +GARD:1639 Autosomal dominant cutis laxa skos:exactMatch Orphanet:90348 semapv:UnspecifiedMatching +GARD:1639 Autosomal dominant cutis laxa skos:narrowMatch OMIM:123700 semapv:UnspecifiedMatching +GARD:1639 Autosomal dominant cutis laxa skos:narrowMatch OMIM:614434 semapv:UnspecifiedMatching +GARD:1639 Autosomal dominant cutis laxa skos:narrowMatch OMIM:616603 semapv:UnspecifiedMatching +GARD:16390 Diabetes mellitus, permanent neonatal, 4 skos:broadMatch Orphanet:99885 semapv:UnspecifiedMatching +GARD:16390 Diabetes mellitus, permanent neonatal, 4 skos:exactMatch OMIM:618858 semapv:UnspecifiedMatching +GARD:16391 Developmental and epileptic encephalopathy 86 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16391 Developmental and epileptic encephalopathy 86 skos:exactMatch OMIM:618910 semapv:UnspecifiedMatching +GARD:16392 Fanconi renotubular syndrome 5 skos:broadMatch Orphanet:3337 semapv:UnspecifiedMatching +GARD:16392 Fanconi renotubular syndrome 5 skos:exactMatch OMIM:618913 semapv:UnspecifiedMatching +GARD:16393 Developmental and epileptic encephalopathy 87 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16393 Developmental and epileptic encephalopathy 87 skos:exactMatch OMIM:618916 semapv:UnspecifiedMatching +GARD:16394 Periventricular nodular heterotopia 9 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:16394 Periventricular nodular heterotopia 9 skos:exactMatch OMIM:618918 semapv:UnspecifiedMatching +GARD:16395 Granulomatous disease, chronic, autosomal recessive, 5 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +GARD:16395 Granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch OMIM:618935 semapv:UnspecifiedMatching +GARD:16396 Treacher collins syndrome 4 skos:broadMatch Orphanet:861 semapv:UnspecifiedMatching +GARD:16396 Treacher collins syndrome 4 skos:exactMatch OMIM:618939 semapv:UnspecifiedMatching +GARD:16397 Oculopharyngodistal myopathy 2 skos:broadMatch Orphanet:98897 semapv:UnspecifiedMatching +GARD:16397 Oculopharyngodistal myopathy 2 skos:exactMatch OMIM:618940 semapv:UnspecifiedMatching +GARD:16398 Developmental and epileptic encephalopathy 88 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16398 Developmental and epileptic encephalopathy 88 skos:exactMatch OMIM:618959 semapv:UnspecifiedMatching +GARD:16399 Optic atrophy 12 skos:broadMatch Orphanet:98673 semapv:UnspecifiedMatching +GARD:16399 Optic atrophy 12 skos:exactMatch OMIM:618977 semapv:UnspecifiedMatching +GARD:16400 Immune dysregulation and systemic hyperinflammation syndrome skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +GARD:16400 Immune dysregulation and systemic hyperinflammation syndrome skos:exactMatch OMIM:618998 semapv:UnspecifiedMatching +GARD:16401 Mitochondrial complex i deficiency, nuclear type 35 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16401 Mitochondrial complex i deficiency, nuclear type 35 skos:exactMatch OMIM:619003 semapv:UnspecifiedMatching +GARD:16402 Ifap syndrome 2 skos:broadMatch Orphanet:2273 semapv:UnspecifiedMatching +GARD:16402 Ifap syndrome 2 skos:exactMatch OMIM:619016 semapv:UnspecifiedMatching +GARD:16403 Coenzyme q10 deficiency, primary, 9 skos:broadMatch Orphanet:139485 semapv:UnspecifiedMatching +GARD:16403 Coenzyme q10 deficiency, primary, 9 skos:exactMatch OMIM:619028 semapv:UnspecifiedMatching +GARD:16404 Mitochondrial complex iv deficiency, nuclear type 3 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16404 Mitochondrial complex iv deficiency, nuclear type 3 skos:exactMatch OMIM:619046 semapv:UnspecifiedMatching +GARD:16405 Mitochondrial complex iv deficiency, nuclear type 4 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16405 Mitochondrial complex iv deficiency, nuclear type 4 skos:exactMatch OMIM:619048 semapv:UnspecifiedMatching +GARD:16406 Mitochondrial complex iv deficiency, nuclear type 7 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16406 Mitochondrial complex iv deficiency, nuclear type 7 skos:exactMatch OMIM:619051 semapv:UnspecifiedMatching +GARD:16407 Mitochondrial complex iv deficiency, nuclear type 8 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16407 Mitochondrial complex iv deficiency, nuclear type 8 skos:exactMatch OMIM:619052 semapv:UnspecifiedMatching +GARD:16408 Mitochondrial complex iv deficiency, nuclear type 10 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16408 Mitochondrial complex iv deficiency, nuclear type 10 skos:exactMatch OMIM:619053 semapv:UnspecifiedMatching +GARD:16409 Mitochondrial complex iv deficiency, nuclear type 11 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16409 Mitochondrial complex iv deficiency, nuclear type 11 skos:exactMatch OMIM:619054 semapv:UnspecifiedMatching +GARD:1641 Autosomal recessive cutis laxa type 2B skos:exactMatch Orphanet:357064 semapv:UnspecifiedMatching +GARD:1641 Autosomal recessive cutis laxa type 2B skos:narrowMatch OMIM:612940 semapv:UnspecifiedMatching +GARD:16410 Mitochondrial complex iv deficiency, nuclear type 12 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16410 Mitochondrial complex iv deficiency, nuclear type 12 skos:exactMatch OMIM:619055 semapv:UnspecifiedMatching +GARD:16411 Mitochondrial complex iv deficiency, nuclear type 14 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16411 Mitochondrial complex iv deficiency, nuclear type 14 skos:exactMatch OMIM:619058 semapv:UnspecifiedMatching +GARD:16412 Mitochondrial complex iv deficiency, nuclear type 15 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16412 Mitochondrial complex iv deficiency, nuclear type 15 skos:exactMatch OMIM:619059 semapv:UnspecifiedMatching +GARD:16413 Mitochondrial complex iv deficiency, nuclear type 16 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16413 Mitochondrial complex iv deficiency, nuclear type 16 skos:exactMatch OMIM:619060 semapv:UnspecifiedMatching +GARD:16414 Mitochondrial complex iv deficiency, nuclear type 17 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16414 Mitochondrial complex iv deficiency, nuclear type 17 skos:exactMatch OMIM:619061 semapv:UnspecifiedMatching +GARD:16415 Mitochondrial complex iv deficiency, nuclear type 18 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16415 Mitochondrial complex iv deficiency, nuclear type 18 skos:exactMatch OMIM:619062 semapv:UnspecifiedMatching +GARD:16416 Mitochondrial complex iv deficiency, nuclear type 19 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16416 Mitochondrial complex iv deficiency, nuclear type 19 skos:exactMatch OMIM:619063 semapv:UnspecifiedMatching +GARD:16417 Mitochondrial complex iv deficiency, nuclear type 20 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16417 Mitochondrial complex iv deficiency, nuclear type 20 skos:exactMatch OMIM:619064 semapv:UnspecifiedMatching +GARD:16418 Mitochondrial complex iv deficiency, nuclear type 21 skos:broadMatch Orphanet:70472 semapv:UnspecifiedMatching +GARD:16418 Mitochondrial complex iv deficiency, nuclear type 21 skos:exactMatch OMIM:619065 semapv:UnspecifiedMatching +GARD:16419 Noonan syndrome 13 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:16419 Noonan syndrome 13 skos:exactMatch OMIM:619087 semapv:UnspecifiedMatching +GARD:16420 Spermatogenic failure 48 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16420 Spermatogenic failure 48 skos:exactMatch OMIM:619108 semapv:UnspecifiedMatching +GARD:16421 Arthrogryposis, distal, type 1c skos:broadMatch Orphanet:1146 semapv:UnspecifiedMatching +GARD:16421 Arthrogryposis, distal, type 1c skos:exactMatch OMIM:619110 semapv:UnspecifiedMatching +GARD:16422 Coach syndrome 2 skos:broadMatch Orphanet:1454 semapv:UnspecifiedMatching +GARD:16422 Coach syndrome 2 skos:exactMatch OMIM:619111 semapv:UnspecifiedMatching +GARD:16423 Coach syndrome 3 skos:broadMatch Orphanet:1454 semapv:UnspecifiedMatching +GARD:16423 Coach syndrome 3 skos:exactMatch OMIM:619113 semapv:UnspecifiedMatching +GARD:16424 Developmental and epileptic encephalopathy 89 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +GARD:16424 Developmental and epileptic encephalopathy 89 skos:exactMatch OMIM:619124 semapv:UnspecifiedMatching +GARD:16425 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:16425 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:16425 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch OMIM:619133 semapv:UnspecifiedMatching +GARD:16426 Ritscher-schinzel syndrome 3 skos:broadMatch Orphanet:7 semapv:UnspecifiedMatching +GARD:16426 Ritscher-schinzel syndrome 3 skos:exactMatch OMIM:619135 semapv:UnspecifiedMatching +GARD:16427 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:16427 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:16427 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:exactMatch OMIM:619141 semapv:UnspecifiedMatching +GARD:16428 Nephrotic syndrome, type 22 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16428 Nephrotic syndrome, type 22 skos:exactMatch OMIM:619155 semapv:UnspecifiedMatching +GARD:16429 Mitochondrial complex ii deficiency, nuclear type 2 skos:broadMatch Orphanet:3208 semapv:UnspecifiedMatching +GARD:16429 Mitochondrial complex ii deficiency, nuclear type 2 skos:exactMatch OMIM:619166 semapv:UnspecifiedMatching +GARD:1643 Primary cutis verticis gyrata skos:exactMatch Orphanet:671 semapv:UnspecifiedMatching +GARD:16430 Mitochondrial complex ii deficiency, nuclear type 3 skos:broadMatch Orphanet:3208 semapv:UnspecifiedMatching +GARD:16430 Mitochondrial complex ii deficiency, nuclear type 3 skos:exactMatch OMIM:619167 semapv:UnspecifiedMatching +GARD:16431 Mitochondrial complex i deficiency, nuclear type 36 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16431 Mitochondrial complex i deficiency, nuclear type 36 skos:exactMatch OMIM:619170 semapv:UnspecifiedMatching +GARD:16432 Microcephaly 26, primary, autosomal dominant skos:broadMatch Orphanet:2514 semapv:UnspecifiedMatching +GARD:16432 Microcephaly 26, primary, autosomal dominant skos:exactMatch OMIM:619179 semapv:UnspecifiedMatching +GARD:16433 Microcephaly 27, primary, autosomal dominant skos:broadMatch Orphanet:2514 semapv:UnspecifiedMatching +GARD:16433 Microcephaly 27, primary, autosomal dominant skos:exactMatch OMIM:619180 semapv:UnspecifiedMatching +GARD:16434 Joubert syndrome 37 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:16434 Joubert syndrome 37 skos:exactMatch OMIM:619185 semapv:UnspecifiedMatching +GARD:16435 Nephrotic syndrome, type 23 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:16435 Nephrotic syndrome, type 23 skos:exactMatch OMIM:619201 semapv:UnspecifiedMatching +GARD:16436 Spermatogenic failure 52 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:16436 Spermatogenic failure 52 skos:exactMatch OMIM:619202 semapv:UnspecifiedMatching +GARD:16437 Olmsted syndrome 2 skos:broadMatch Orphanet:659 semapv:UnspecifiedMatching +GARD:16437 Olmsted syndrome 2 skos:exactMatch OMIM:619208 semapv:UnspecifiedMatching +GARD:16438 Mitochondrial complex ii deficiency, nuclear type 4 skos:broadMatch Orphanet:3208 semapv:UnspecifiedMatching +GARD:16438 Mitochondrial complex ii deficiency, nuclear type 4 skos:exactMatch OMIM:619224 semapv:UnspecifiedMatching +GARD:16439 Glanzmann thrombasthenia 2 skos:broadMatch Orphanet:849 semapv:UnspecifiedMatching +GARD:16439 Glanzmann thrombasthenia 2 skos:exactMatch OMIM:619267 semapv:UnspecifiedMatching +GARD:16440 Mitochondrial complex i deficiency, nuclear type 37 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:16440 Mitochondrial complex i deficiency, nuclear type 37 skos:exactMatch OMIM:619272 semapv:UnspecifiedMatching +GARD:16441 Pontocerebellar hypoplasia, type 1e skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +GARD:16441 Pontocerebellar hypoplasia, type 1e skos:exactMatch OMIM:619303 semapv:UnspecifiedMatching +GARD:16442 Pontocerebellar hypoplasia, type 1f skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +GARD:16442 Pontocerebellar hypoplasia, type 1f skos:exactMatch OMIM:619304 semapv:UnspecifiedMatching +GARD:16443 Coffin-siris syndrome 12 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:16443 Coffin-siris syndrome 12 skos:exactMatch OMIM:619325 semapv:UnspecifiedMatching +GARD:16444 Bartsocas-papas syndrome 2 skos:broadMatch Orphanet:1234 semapv:UnspecifiedMatching +GARD:16444 Bartsocas-papas syndrome 2 skos:exactMatch OMIM:619339 semapv:UnspecifiedMatching +GARD:16445 Developmental and epileptic encephalopathy 96 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:16445 Developmental and epileptic encephalopathy 96 skos:exactMatch OMIM:619340 semapv:UnspecifiedMatching +GARD:16446 Visceral myopathy 2 skos:broadMatch Orphanet:2604 semapv:UnspecifiedMatching +GARD:16446 Visceral myopathy 2 skos:exactMatch OMIM:619350 semapv:UnspecifiedMatching +GARD:16447 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:broadMatch Orphanet:2241 semapv:UnspecifiedMatching +GARD:16447 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:exactMatch OMIM:619351 semapv:UnspecifiedMatching +GARD:16448 Mitochondrial complex iv deficiency, nuclear type 22 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:16448 Mitochondrial complex iv deficiency, nuclear type 22 skos:exactMatch OMIM:619355 semapv:UnspecifiedMatching +GARD:16449 Cone dystrophy 4 skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +GARD:16449 Cone dystrophy 4 skos:exactMatch OMIM:613093 semapv:UnspecifiedMatching +GARD:16450 Cowden syndrome 1 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +GARD:16450 Cowden syndrome 1 skos:exactMatch OMIM:158350 semapv:UnspecifiedMatching +GARD:16451 Desbuquois dysplasia 1 skos:broadMatch Orphanet:1425 semapv:UnspecifiedMatching +GARD:16451 Desbuquois dysplasia 1 skos:exactMatch OMIM:251450 semapv:UnspecifiedMatching +GARD:16452 Xeroderma pigmentosum, complementation group d skos:broadMatch Orphanet:220295 semapv:UnspecifiedMatching +GARD:16452 Xeroderma pigmentosum, complementation group d skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +GARD:16452 Xeroderma pigmentosum, complementation group d skos:exactMatch OMIM:278730 semapv:UnspecifiedMatching +GARD:16453 Lymphatic malformation 2 skos:broadMatch Orphanet:79452 semapv:UnspecifiedMatching +GARD:16453 Lymphatic malformation 2 skos:exactMatch OMIM:611944 semapv:UnspecifiedMatching +GARD:16454 Intellectual developmental disorder, autosomal dominant 3 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16454 Intellectual developmental disorder, autosomal dominant 3 skos:exactMatch OMIM:612580 semapv:UnspecifiedMatching +GARD:16455 Intellectual developmental disorder, autosomal dominant 4 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16455 Intellectual developmental disorder, autosomal dominant 4 skos:exactMatch OMIM:612581 semapv:UnspecifiedMatching +GARD:16456 Lymphatic malformation 3 skos:broadMatch Orphanet:79452 semapv:UnspecifiedMatching +GARD:16456 Lymphatic malformation 3 skos:exactMatch OMIM:613480 semapv:UnspecifiedMatching +GARD:16457 Ichthyosis, congenital, autosomal recessive 8 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +GARD:16457 Ichthyosis, congenital, autosomal recessive 8 skos:exactMatch OMIM:613943 semapv:UnspecifiedMatching +GARD:16458 Intellectual developmental disorder, autosomal dominant 2 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16458 Intellectual developmental disorder, autosomal dominant 2 skos:exactMatch OMIM:614113 semapv:UnspecifiedMatching +GARD:16459 Nescav syndrome skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16459 Nescav syndrome skos:exactMatch OMIM:614255 semapv:UnspecifiedMatching +GARD:1646 Thyrocerebrorenal syndrome skos:exactMatch Orphanet:3327 semapv:UnspecifiedMatching +GARD:1646 Thyrocerebrorenal syndrome skos:narrowMatch OMIM:274240 semapv:UnspecifiedMatching +GARD:16460 Intellectual developmental disorder, autosomal dominant 10 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16460 Intellectual developmental disorder, autosomal dominant 10 skos:exactMatch OMIM:614256 semapv:UnspecifiedMatching +GARD:16461 Chromosome 20q11-q12 deletion syndrome skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16461 Chromosome 20q11-q12 deletion syndrome skos:exactMatch OMIM:614257 semapv:UnspecifiedMatching +GARD:16462 Intellectual developmental disorder, autosomal dominant 13 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16462 Intellectual developmental disorder, autosomal dominant 13 skos:exactMatch OMIM:614563 semapv:UnspecifiedMatching +GARD:16463 Cowden syndrome 4 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +GARD:16463 Cowden syndrome 4 skos:exactMatch OMIM:615107 semapv:UnspecifiedMatching +GARD:16464 Cowden syndrome 5 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +GARD:16464 Cowden syndrome 5 skos:exactMatch OMIM:615108 semapv:UnspecifiedMatching +GARD:16465 Cowden syndrome 6 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +GARD:16465 Cowden syndrome 6 skos:exactMatch OMIM:615109 semapv:UnspecifiedMatching +GARD:16466 Desbuquois dysplasia 2 skos:broadMatch Orphanet:1425 semapv:UnspecifiedMatching +GARD:16466 Desbuquois dysplasia 2 skos:exactMatch OMIM:615777 semapv:UnspecifiedMatching +GARD:16467 Vulto-van silfhout-de vries syndrome skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16467 Vulto-van silfhout-de vries syndrome skos:exactMatch OMIM:615828 semapv:UnspecifiedMatching +GARD:16468 Lymphatic malformation 4 skos:broadMatch Orphanet:79452 semapv:UnspecifiedMatching +GARD:16468 Lymphatic malformation 4 skos:exactMatch OMIM:615907 semapv:UnspecifiedMatching +GARD:16469 Intellectual developmental disorder, autosomal dominant 38 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16469 Intellectual developmental disorder, autosomal dominant 38 skos:exactMatch OMIM:616393 semapv:UnspecifiedMatching +GARD:16470 Cowden syndrome 7 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +GARD:16470 Cowden syndrome 7 skos:exactMatch OMIM:616858 semapv:UnspecifiedMatching +GARD:16471 Ichthyosis, congenital, autosomal recessive 14 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +GARD:16471 Ichthyosis, congenital, autosomal recessive 14 skos:exactMatch OMIM:617571 semapv:UnspecifiedMatching +GARD:16472 Intellectual developmental disorder, autosomal dominant 52 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16472 Intellectual developmental disorder, autosomal dominant 52 skos:exactMatch OMIM:617796 semapv:UnspecifiedMatching +GARD:16473 Intellectual developmental disorder, autosomal dominant 53 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16473 Intellectual developmental disorder, autosomal dominant 53 skos:exactMatch OMIM:617798 semapv:UnspecifiedMatching +GARD:16474 Intellectual developmental disorder, autosomal dominant 54 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16474 Intellectual developmental disorder, autosomal dominant 54 skos:exactMatch OMIM:617799 semapv:UnspecifiedMatching +GARD:16475 Intellectual developmental disorder, autosomal recessive 63 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16475 Intellectual developmental disorder, autosomal recessive 63 skos:exactMatch OMIM:618095 semapv:UnspecifiedMatching +GARD:16476 Intellectual developmental disorder, autosomal dominant 58 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16476 Intellectual developmental disorder, autosomal dominant 58 skos:exactMatch OMIM:618106 semapv:UnspecifiedMatching +GARD:16477 Global developmental delay with or without impaired intellectual development skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16477 Global developmental delay with or without impaired intellectual development skos:exactMatch OMIM:618330 semapv:UnspecifiedMatching +GARD:16478 Intellectual developmental disorder, autosomal dominant 64 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:16478 Intellectual developmental disorder, autosomal dominant 64 skos:exactMatch OMIM:619188 semapv:UnspecifiedMatching +GARD:16479 Mitochondrial DNA-related progressive external ophthalmoplegia skos:exactMatch Orphanet:663 semapv:UnspecifiedMatching +GARD:16480 Sorsby pseudoinflammatory fundus dystrophy skos:exactMatch Orphanet:59181 semapv:UnspecifiedMatching +GARD:16480 Sorsby pseudoinflammatory fundus dystrophy skos:narrowMatch OMIM:136900 semapv:UnspecifiedMatching +GARD:16480 Sorsby pseudoinflammatory fundus dystrophy skos:narrowMatch OMIM:264420 semapv:UnspecifiedMatching +GARD:16481 Methylmalonic aciduria due to transcobalamin receptor defect skos:exactMatch Orphanet:280183 semapv:UnspecifiedMatching +GARD:16481 Methylmalonic aciduria due to transcobalamin receptor defect skos:narrowMatch OMIM:613646 semapv:UnspecifiedMatching +GARD:16482 Rieger anomaly skos:exactMatch Orphanet:91483 semapv:UnspecifiedMatching +GARD:16482 Rieger anomaly skos:narrowMatch OMIM:137600 semapv:UnspecifiedMatching +GARD:16482 Rieger anomaly skos:narrowMatch OMIM:601631 semapv:UnspecifiedMatching +GARD:16482 Rieger anomaly skos:narrowMatch OMIM:602482 semapv:UnspecifiedMatching +GARD:16483 Infantile liver failure syndrome 3 skos:broadMatch Orphanet:464724 semapv:UnspecifiedMatching +GARD:16483 Infantile liver failure syndrome 3 skos:exactMatch OMIM:618641 semapv:UnspecifiedMatching +GARD:16484 Anterior segment developmental anomaly without extraocular manifestations skos:exactMatch Orphanet:98634 semapv:UnspecifiedMatching +GARD:16485 Axenfeld anomaly skos:exactMatch Orphanet:98978 semapv:UnspecifiedMatching +GARD:16485 Axenfeld anomaly skos:narrowMatch OMIM:601631 semapv:UnspecifiedMatching +GARD:16485 Axenfeld anomaly skos:narrowMatch OMIM:602482 semapv:UnspecifiedMatching +GARD:16486 Autosomal dominant progressive external ophthalmoplegia skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching +GARD:16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:157640 semapv:UnspecifiedMatching +GARD:16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:609283 semapv:UnspecifiedMatching +GARD:16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:609286 semapv:UnspecifiedMatching +GARD:16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:610131 semapv:UnspecifiedMatching +GARD:16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:613077 semapv:UnspecifiedMatching +GARD:16487 C3 glomerulonephritis skos:exactMatch Orphanet:329931 semapv:UnspecifiedMatching +GARD:16487 C3 glomerulonephritis skos:narrowMatch OMIM:614809 semapv:UnspecifiedMatching +GARD:16489 Complement component 3 deficiency skos:exactMatch Orphanet:280133 semapv:UnspecifiedMatching +GARD:16489 Complement component 3 deficiency skos:narrowMatch OMIM:613779 semapv:UnspecifiedMatching +GARD:16490 Primary early-onset glaucoma skos:exactMatch Orphanet:156005 semapv:UnspecifiedMatching +GARD:16491 Aortic aneurysm, familial abdominal, 1 skos:broadMatch Orphanet:86 semapv:UnspecifiedMatching +GARD:16491 Aortic aneurysm, familial abdominal, 1 skos:exactMatch OMIM:100070 semapv:UnspecifiedMatching +GARD:16492 Aortic aneurysm, familial abdominal, 2 skos:broadMatch Orphanet:86 semapv:UnspecifiedMatching +GARD:16492 Aortic aneurysm, familial abdominal, 2 skos:exactMatch OMIM:609782 semapv:UnspecifiedMatching +GARD:16493 Aortic aneurysm, familial abdominal, 3 skos:broadMatch Orphanet:86 semapv:UnspecifiedMatching +GARD:16493 Aortic aneurysm, familial abdominal, 3 skos:exactMatch OMIM:611891 semapv:UnspecifiedMatching +GARD:16494 Aortic aneurysm, familial abdominal, 4 skos:broadMatch Orphanet:86 semapv:UnspecifiedMatching +GARD:16494 Aortic aneurysm, familial abdominal, 4 skos:exactMatch OMIM:614375 semapv:UnspecifiedMatching +GARD:16495 Fetal akinesia deformation sequence 2 skos:broadMatch Orphanet:994 semapv:UnspecifiedMatching +GARD:16495 Fetal akinesia deformation sequence 2 skos:exactMatch OMIM:618388 semapv:UnspecifiedMatching +GARD:16496 Fetal akinesia deformation sequence 3 skos:broadMatch Orphanet:994 semapv:UnspecifiedMatching +GARD:16496 Fetal akinesia deformation sequence 3 skos:exactMatch OMIM:618389 semapv:UnspecifiedMatching +GARD:16497 Fetal akinesia deformation sequence 4 skos:broadMatch Orphanet:994 semapv:UnspecifiedMatching +GARD:16497 Fetal akinesia deformation sequence 4 skos:exactMatch OMIM:618393 semapv:UnspecifiedMatching +GARD:16498 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +GARD:16498 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 skos:exactMatch OMIM:609283 semapv:UnspecifiedMatching +GARD:16499 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +GARD:16499 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 skos:exactMatch OMIM:609286 semapv:UnspecifiedMatching +GARD:16500 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +GARD:16500 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 skos:exactMatch OMIM:610131 semapv:UnspecifiedMatching +GARD:16501 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +GARD:16501 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 skos:exactMatch OMIM:613077 semapv:UnspecifiedMatching +GARD:16502 Otofaciocervical syndrome 1 skos:broadMatch Orphanet:2792 semapv:UnspecifiedMatching +GARD:16502 Otofaciocervical syndrome 1 skos:exactMatch OMIM:166780 semapv:UnspecifiedMatching +GARD:16503 Otofaciocervical syndrome 2, with t-cell deficiency skos:broadMatch Orphanet:2792 semapv:UnspecifiedMatching +GARD:16503 Otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch OMIM:615560 semapv:UnspecifiedMatching +GARD:16504 Seizures, benign familial infantile, 2 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +GARD:16504 Seizures, benign familial infantile, 2 skos:exactMatch OMIM:605751 semapv:UnspecifiedMatching +GARD:16505 Seizures, benign familial infantile, 4 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +GARD:16505 Seizures, benign familial infantile, 4 skos:exactMatch OMIM:612627 semapv:UnspecifiedMatching +GARD:16506 Seizures, benign familial infantile, 5 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +GARD:16506 Seizures, benign familial infantile, 5 skos:exactMatch OMIM:617080 semapv:UnspecifiedMatching +GARD:16507 Alzheimer disease 5 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16507 Alzheimer disease 5 skos:exactMatch OMIM:602096 semapv:UnspecifiedMatching +GARD:16508 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16508 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch OMIM:605055 semapv:UnspecifiedMatching +GARD:16509 Alzheimer disease 6 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16509 Alzheimer disease 6 skos:exactMatch OMIM:605526 semapv:UnspecifiedMatching +GARD:16510 Alzheimer disease 7 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16510 Alzheimer disease 7 skos:exactMatch OMIM:606187 semapv:UnspecifiedMatching +GARD:16511 Alzheimer disease 4 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16511 Alzheimer disease 4 skos:exactMatch OMIM:606889 semapv:UnspecifiedMatching +GARD:16512 Alzheimer disease 8 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16512 Alzheimer disease 8 skos:exactMatch OMIM:607116 semapv:UnspecifiedMatching +GARD:16513 Alzheimer disease 3 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16513 Alzheimer disease 3 skos:exactMatch OMIM:607822 semapv:UnspecifiedMatching +GARD:16514 Alzheimer disease 10 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16514 Alzheimer disease 10 skos:exactMatch OMIM:609636 semapv:UnspecifiedMatching +GARD:16515 Alzheimer disease 11 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16515 Alzheimer disease 11 skos:exactMatch OMIM:609790 semapv:UnspecifiedMatching +GARD:16516 Alzheimer disease 12 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16516 Alzheimer disease 12 skos:exactMatch OMIM:611073 semapv:UnspecifiedMatching +GARD:16517 Alzheimer disease 13 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16517 Alzheimer disease 13 skos:exactMatch OMIM:611152 semapv:UnspecifiedMatching +GARD:16518 Alzheimer disease 14 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:16518 Alzheimer disease 14 skos:exactMatch OMIM:611154 semapv:UnspecifiedMatching +GARD:16519 Septooptic dysplasia skos:broadMatch Orphanet:95494 semapv:UnspecifiedMatching +GARD:16519 Septooptic dysplasia skos:exactMatch OMIM:182230 semapv:UnspecifiedMatching +GARD:16520 Pituitary hormone deficiency, combined, 6 skos:broadMatch Orphanet:95494 semapv:UnspecifiedMatching +GARD:16520 Pituitary hormone deficiency, combined, 6 skos:exactMatch OMIM:613986 semapv:UnspecifiedMatching +GARD:16521 Seizures, benign familial infantile, 3 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +GARD:16521 Seizures, benign familial infantile, 3 skos:exactMatch OMIM:607745 semapv:UnspecifiedMatching +GARD:16522 Citrullinemia skos:exactMatch Orphanet:187 semapv:UnspecifiedMatching +GARD:16523 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching +GARD:16523 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232200 semapv:UnspecifiedMatching +GARD:16523 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232220 semapv:UnspecifiedMatching +GARD:16523 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232240 semapv:UnspecifiedMatching +GARD:16524 Focal facial dermal dysplasia type I skos:exactMatch Orphanet:79133 semapv:UnspecifiedMatching +GARD:16524 Focal facial dermal dysplasia type I skos:narrowMatch OMIM:136500 semapv:UnspecifiedMatching +GARD:16526 Crigler-Najjar syndrome skos:exactMatch Orphanet:205 semapv:UnspecifiedMatching +GARD:16526 Crigler-Najjar syndrome skos:narrowMatch OMIM:218800 semapv:UnspecifiedMatching +GARD:16526 Crigler-Najjar syndrome skos:narrowMatch OMIM:606785 semapv:UnspecifiedMatching +GARD:16527 Ependymal tumor skos:exactMatch Orphanet:301 semapv:UnspecifiedMatching +GARD:16527 Ependymal tumor skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +GARD:16528 Erythrokeratodermia variabilis skos:exactMatch Orphanet:317 semapv:UnspecifiedMatching +GARD:16528 Erythrokeratodermia variabilis skos:narrowMatch OMIM:133200 semapv:UnspecifiedMatching +GARD:16528 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617524 semapv:UnspecifiedMatching +GARD:16528 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617525 semapv:UnspecifiedMatching +GARD:16528 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617526 semapv:UnspecifiedMatching +GARD:16529 Classic Hodgkin lymphoma skos:exactMatch Orphanet:391 semapv:UnspecifiedMatching +GARD:16529 Classic Hodgkin lymphoma skos:narrowMatch OMIM:236000 semapv:UnspecifiedMatching +GARD:16529 Classic Hodgkin lymphoma skos:narrowMatch OMIM:300221 semapv:UnspecifiedMatching +GARD:16529 Classic Hodgkin lymphoma skos:narrowMatch OMIM:400021 semapv:UnspecifiedMatching +GARD:16530 Primary hyperoxaluria skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching +GARD:16530 Primary hyperoxaluria skos:narrowMatch OMIM:259900 semapv:UnspecifiedMatching +GARD:16530 Primary hyperoxaluria skos:narrowMatch OMIM:260000 semapv:UnspecifiedMatching +GARD:16530 Primary hyperoxaluria skos:narrowMatch OMIM:613616 semapv:UnspecifiedMatching +GARD:16531 Idiopathic/heritable pulmonary arterial hypertension skos:exactMatch Orphanet:422 semapv:UnspecifiedMatching +GARD:16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:178600 semapv:UnspecifiedMatching +GARD:16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:265400 semapv:UnspecifiedMatching +GARD:16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615342 semapv:UnspecifiedMatching +GARD:16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615343 semapv:UnspecifiedMatching +GARD:16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615344 semapv:UnspecifiedMatching +GARD:16532 Familial hypoaldosteronism skos:exactMatch Orphanet:427 semapv:UnspecifiedMatching +GARD:16532 Familial hypoaldosteronism skos:narrowMatch OMIM:203400 semapv:UnspecifiedMatching +GARD:16532 Familial hypoaldosteronism skos:narrowMatch OMIM:606984 semapv:UnspecifiedMatching +GARD:16532 Familial hypoaldosteronism skos:narrowMatch OMIM:610600 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:146110 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:147950 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:244200 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:308700 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:610628 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:612370 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:612702 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614837 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614838 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614839 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614840 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614841 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614842 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614858 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614880 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:615266 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:615269 semapv:UnspecifiedMatching +GARD:16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:615270 semapv:UnspecifiedMatching +GARD:16534 Non-syndromic anorectal malformation skos:exactMatch Orphanet:557 semapv:UnspecifiedMatching +GARD:16534 Non-syndromic anorectal malformation skos:narrowMatch OMIM:107100 semapv:UnspecifiedMatching +GARD:16534 Non-syndromic anorectal malformation skos:narrowMatch OMIM:207500 semapv:UnspecifiedMatching +GARD:16534 Non-syndromic anorectal malformation skos:narrowMatch OMIM:301800 semapv:UnspecifiedMatching +GARD:16535 Marfan syndrome skos:exactMatch Orphanet:558 semapv:UnspecifiedMatching +GARD:16535 Marfan syndrome skos:narrowMatch OMIM:154700 semapv:UnspecifiedMatching +GARD:16535 Marfan syndrome skos:narrowMatch OMIM:610168 semapv:UnspecifiedMatching +GARD:16536 Multiminicore myopathy skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +GARD:16536 Multiminicore myopathy skos:narrowMatch OMIM:117000 semapv:UnspecifiedMatching +GARD:16536 Multiminicore myopathy skos:narrowMatch OMIM:255320 semapv:UnspecifiedMatching +GARD:16536 Multiminicore myopathy skos:narrowMatch OMIM:602771 semapv:UnspecifiedMatching +GARD:16537 Homocystinuria without methylmalonic aciduria skos:exactMatch Orphanet:622 semapv:UnspecifiedMatching +GARD:16537 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:236270 semapv:UnspecifiedMatching +GARD:16537 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:250940 semapv:UnspecifiedMatching +GARD:16537 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +GARD:16538 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:exactMatch Orphanet:632 semapv:UnspecifiedMatching +GARD:16538 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:narrowMatch OMIM:307200 semapv:UnspecifiedMatching +GARD:16539 LCAT deficiency skos:exactMatch Orphanet:650 semapv:UnspecifiedMatching +GARD:16539 LCAT deficiency skos:narrowMatch OMIM:136120 semapv:UnspecifiedMatching +GARD:16539 LCAT deficiency skos:narrowMatch OMIM:245900 semapv:UnspecifiedMatching +GARD:1654 Familial aortic dissection skos:exactMatch Orphanet:229 semapv:UnspecifiedMatching +GARD:1654 Familial aortic dissection skos:narrowMatch OMIM:607086 semapv:UnspecifiedMatching +GARD:16540 Omphalocele skos:exactMatch Orphanet:660 semapv:UnspecifiedMatching +GARD:16540 Omphalocele skos:narrowMatch OMIM:164750 semapv:UnspecifiedMatching +GARD:16540 Omphalocele skos:narrowMatch OMIM:310980 semapv:UnspecifiedMatching +GARD:16541 Hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch Orphanet:712 semapv:UnspecifiedMatching +GARD:16541 Hemolytic anemia due to glucophosphate isomerase deficiency skos:narrowMatch OMIM:613470 semapv:UnspecifiedMatching +GARD:16542 Porokeratosis plantaris palmaris et disseminata skos:exactMatch Orphanet:737 semapv:UnspecifiedMatching +GARD:16542 Porokeratosis plantaris palmaris et disseminata skos:narrowMatch OMIM:175850 semapv:UnspecifiedMatching +GARD:16543 Severe hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch Orphanet:743 semapv:UnspecifiedMatching +GARD:16543 Severe hereditary thrombophilia due to congenital protein S deficiency skos:narrowMatch OMIM:612336 semapv:UnspecifiedMatching +GARD:16543 Severe hereditary thrombophilia due to congenital protein S deficiency skos:narrowMatch OMIM:614514 semapv:UnspecifiedMatching +GARD:16544 Severe hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch Orphanet:745 semapv:UnspecifiedMatching +GARD:16544 Severe hereditary thrombophilia due to congenital protein C deficiency skos:narrowMatch OMIM:176860 semapv:UnspecifiedMatching +GARD:16544 Severe hereditary thrombophilia due to congenital protein C deficiency skos:narrowMatch OMIM:612304 semapv:UnspecifiedMatching +GARD:16545 Pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:756 semapv:UnspecifiedMatching +GARD:16545 Pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:177735 semapv:UnspecifiedMatching +GARD:16545 Pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:264350 semapv:UnspecifiedMatching +GARD:16546 Central precocious puberty skos:exactMatch Orphanet:759 semapv:UnspecifiedMatching +GARD:16546 Central precocious puberty skos:narrowMatch OMIM:176400 semapv:UnspecifiedMatching +GARD:16546 Central precocious puberty skos:narrowMatch OMIM:615346 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:192500 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:220400 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:600919 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:601005 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:603830 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:611818 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:611819 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:611820 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:612347 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:612955 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:613485 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:613688 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:613693 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:613695 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:616247 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:616249 semapv:UnspecifiedMatching +GARD:16547 Familial long QT syndrome skos:narrowMatch OMIM:618447 semapv:UnspecifiedMatching +GARD:16548 Estrogen resistance syndrome skos:exactMatch Orphanet:785 semapv:UnspecifiedMatching +GARD:16548 Estrogen resistance syndrome skos:narrowMatch OMIM:615363 semapv:UnspecifiedMatching +GARD:16549 Encephalopathy due to sulfite oxidase deficiency skos:exactMatch Orphanet:833 semapv:UnspecifiedMatching +GARD:16549 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:252150 semapv:UnspecifiedMatching +GARD:16549 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:252160 semapv:UnspecifiedMatching +GARD:16549 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:272300 semapv:UnspecifiedMatching +GARD:16549 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:615501 semapv:UnspecifiedMatching +GARD:16550 Lown-Ganong-Levine syndrome skos:exactMatch Orphanet:844 semapv:UnspecifiedMatching +GARD:16550 Lown-Ganong-Levine syndrome skos:narrowMatch OMIM:108950 semapv:UnspecifiedMatching +GARD:16551 Acro-renal-ocular syndrome skos:exactMatch Orphanet:959 semapv:UnspecifiedMatching +GARD:16551 Acro-renal-ocular syndrome skos:narrowMatch OMIM:607323 semapv:UnspecifiedMatching +GARD:16552 Testicular regression syndrome skos:exactMatch Orphanet:983 semapv:UnspecifiedMatching +GARD:16552 Testicular regression syndrome skos:narrowMatch OMIM:273250 semapv:UnspecifiedMatching +GARD:16553 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:1014 semapv:UnspecifiedMatching +GARD:16553 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:narrowMatch OMIM:601217 semapv:UnspecifiedMatching +GARD:16554 Autosomal recessive amelia skos:exactMatch Orphanet:1027 semapv:UnspecifiedMatching +GARD:16554 Autosomal recessive amelia skos:narrowMatch OMIM:601360 semapv:UnspecifiedMatching +GARD:16555 Microlissencephaly skos:exactMatch Orphanet:1083 semapv:UnspecifiedMatching +GARD:16555 Microlissencephaly skos:narrowMatch OMIM:614019 semapv:UnspecifiedMatching +GARD:16555 Microlissencephaly skos:narrowMatch OMIM:616212 semapv:UnspecifiedMatching +GARD:16556 Sheldon-Hall syndrome skos:exactMatch Orphanet:1147 semapv:UnspecifiedMatching +GARD:16556 Sheldon-Hall syndrome skos:narrowMatch OMIM:601680 semapv:UnspecifiedMatching +GARD:16556 Sheldon-Hall syndrome skos:narrowMatch OMIM:616266 semapv:UnspecifiedMatching +GARD:16556 Sheldon-Hall syndrome skos:narrowMatch OMIM:618435 semapv:UnspecifiedMatching +GARD:16557 Congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch Orphanet:1166 semapv:UnspecifiedMatching +GARD:16557 Congenital unilateral hypoplasia of depressor anguli oris skos:narrowMatch OMIM:125520 semapv:UnspecifiedMatching +GARD:16558 X-linked progressive cerebellar ataxia skos:exactMatch Orphanet:1175 semapv:UnspecifiedMatching +GARD:16558 X-linked progressive cerebellar ataxia skos:narrowMatch OMIM:302500 semapv:UnspecifiedMatching +GARD:16559 Ataxia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:1178 semapv:UnspecifiedMatching +GARD:16559 Ataxia-tapetoretinal degeneration syndrome skos:narrowMatch OMIM:272600 semapv:UnspecifiedMatching +GARD:16560 Spastic ataxia with congenital miosis skos:exactMatch Orphanet:1182 semapv:UnspecifiedMatching +GARD:16560 Spastic ataxia with congenital miosis skos:narrowMatch OMIM:108650 semapv:UnspecifiedMatching +GARD:16561 TMEM70-related mitochondrial encephalo-cardio-myopathy skos:exactMatch Orphanet:1194 semapv:UnspecifiedMatching +GARD:16561 TMEM70-related mitochondrial encephalo-cardio-myopathy skos:narrowMatch OMIM:614052 semapv:UnspecifiedMatching +GARD:16562 Brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch Orphanet:1295 semapv:UnspecifiedMatching +GARD:16562 Brachytelephalangy-dysmorphism-Kallmann syndrome skos:narrowMatch OMIM:113480 semapv:UnspecifiedMatching +GARD:16563 Hyperkeratosis-hyperpigmentation syndrome skos:exactMatch Orphanet:1336 semapv:UnspecifiedMatching +GARD:16563 Hyperkeratosis-hyperpigmentation syndrome skos:narrowMatch OMIM:144190 semapv:UnspecifiedMatching +GARD:16564 Atrial standstill skos:exactMatch Orphanet:1344 semapv:UnspecifiedMatching +GARD:16564 Atrial standstill skos:narrowMatch OMIM:108770 semapv:UnspecifiedMatching +GARD:16564 Atrial standstill skos:narrowMatch OMIM:615745 semapv:UnspecifiedMatching +GARD:16565 Chondrodysplasia-disorder of sex development syndrome skos:exactMatch Orphanet:1422 semapv:UnspecifiedMatching +GARD:16565 Chondrodysplasia-disorder of sex development syndrome skos:narrowMatch OMIM:600092 semapv:UnspecifiedMatching +GARD:16566 Atrial septal defect-atrioventricular conduction defects syndrome skos:exactMatch Orphanet:1479 semapv:UnspecifiedMatching +GARD:16566 Atrial septal defect-atrioventricular conduction defects syndrome skos:narrowMatch OMIM:108900 semapv:UnspecifiedMatching +GARD:16567 Cooper-Jabs syndrome skos:exactMatch Orphanet:1488 semapv:UnspecifiedMatching +GARD:16567 Cooper-Jabs syndrome skos:narrowMatch OMIM:209770 semapv:UnspecifiedMatching +GARD:16568 Autosomal recessive Robinow syndrome skos:exactMatch Orphanet:1507 semapv:UnspecifiedMatching +GARD:16568 Autosomal recessive Robinow syndrome skos:narrowMatch OMIM:268310 semapv:UnspecifiedMatching +GARD:16568 Autosomal recessive Robinow syndrome skos:narrowMatch OMIM:618529 semapv:UnspecifiedMatching +GARD:16569 Fatal infantile cytochrome C oxidase deficiency skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching +GARD:16569 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:604377 semapv:UnspecifiedMatching +GARD:16569 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:615119 semapv:UnspecifiedMatching +GARD:16569 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:616500 semapv:UnspecifiedMatching +GARD:16569 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:616501 semapv:UnspecifiedMatching +GARD:16570 Monosomy 13q14 skos:exactMatch Orphanet:1587 semapv:UnspecifiedMatching +GARD:16570 Monosomy 13q14 skos:narrowMatch OMIM:613884 semapv:UnspecifiedMatching +GARD:16571 Distal monosomy 13q skos:exactMatch Orphanet:1590 semapv:UnspecifiedMatching +GARD:16571 Distal monosomy 13q skos:narrowMatch OMIM:602553 semapv:UnspecifiedMatching +GARD:16572 Distal monosomy 15q skos:exactMatch Orphanet:1596 semapv:UnspecifiedMatching +GARD:16572 Distal monosomy 15q skos:narrowMatch OMIM:612626 semapv:UnspecifiedMatching +GARD:16573 3q13 microdeletion syndrome skos:exactMatch Orphanet:1621 semapv:UnspecifiedMatching +GARD:16573 3q13 microdeletion syndrome skos:narrowMatch OMIM:615433 semapv:UnspecifiedMatching +GARD:16574 Partial chromosome Y deletion skos:exactMatch Orphanet:1646 semapv:UnspecifiedMatching +GARD:16574 Partial chromosome Y deletion skos:narrowMatch OMIM:400042 semapv:UnspecifiedMatching +GARD:16574 Partial chromosome Y deletion skos:narrowMatch OMIM:415000 semapv:UnspecifiedMatching +GARD:16575 Dentin dysplasia skos:exactMatch Orphanet:1653 semapv:UnspecifiedMatching +GARD:16575 Dentin dysplasia skos:narrowMatch OMIM:125400 semapv:UnspecifiedMatching +GARD:16575 Dentin dysplasia skos:narrowMatch OMIM:125420 semapv:UnspecifiedMatching +GARD:16576 Chronic diarrhea with villous atrophy skos:exactMatch Orphanet:1670 semapv:UnspecifiedMatching +GARD:16576 Chronic diarrhea with villous atrophy skos:narrowMatch OMIM:520100 semapv:UnspecifiedMatching +GARD:16576 Chronic diarrhea with villous atrophy skos:narrowMatch OMIM:618662 semapv:UnspecifiedMatching +GARD:16577 Arterial dissection-lentiginosis syndrome skos:exactMatch Orphanet:1682 semapv:UnspecifiedMatching +GARD:16577 Arterial dissection-lentiginosis syndrome skos:narrowMatch OMIM:600459 semapv:UnspecifiedMatching +GARD:16578 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch Orphanet:1812 semapv:UnspecifiedMatching +GARD:16578 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:narrowMatch OMIM:225040 semapv:UnspecifiedMatching +GARD:16579 Renal agenesis, bilateral skos:exactMatch Orphanet:1848 semapv:UnspecifiedMatching +GARD:16579 Renal agenesis, bilateral skos:narrowMatch OMIM:191830 semapv:UnspecifiedMatching +GARD:16579 Renal agenesis, bilateral skos:narrowMatch OMIM:617805 semapv:UnspecifiedMatching +GARD:16580 Diabetic embryopathy skos:exactMatch Orphanet:1926 semapv:UnspecifiedMatching +GARD:16580 Diabetic embryopathy skos:narrowMatch OMIM:601759 semapv:UnspecifiedMatching +GARD:16581 Early myoclonic encephalopathy skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching +GARD:16581 Early myoclonic encephalopathy skos:narrowMatch OMIM:609304 semapv:UnspecifiedMatching +GARD:16581 Early myoclonic encephalopathy skos:narrowMatch OMIM:616341 semapv:UnspecifiedMatching +GARD:16581 Early myoclonic encephalopathy skos:narrowMatch OMIM:617105 semapv:UnspecifiedMatching +GARD:16582 Hereditary gingival fibromatosis skos:exactMatch Orphanet:2024 semapv:UnspecifiedMatching +GARD:16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:135300 semapv:UnspecifiedMatching +GARD:16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:605544 semapv:UnspecifiedMatching +GARD:16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:609955 semapv:UnspecifiedMatching +GARD:16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:611010 semapv:UnspecifiedMatching +GARD:16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:617626 semapv:UnspecifiedMatching +GARD:16583 Juvenile hyaline fibromatosis skos:exactMatch Orphanet:2028 semapv:UnspecifiedMatching +GARD:16583 Juvenile hyaline fibromatosis skos:narrowMatch OMIM:228600 semapv:UnspecifiedMatching +GARD:16584 X-linked intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching +GARD:16584 X-linked intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:300088 semapv:UnspecifiedMatching +GARD:16584 X-linked intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:300423 semapv:UnspecifiedMatching +GARD:16584 X-linked intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:300607 semapv:UnspecifiedMatching +GARD:16585 46,XX ovotesticular disorder of sex development skos:exactMatch Orphanet:2138 semapv:UnspecifiedMatching +GARD:16585 46,XX ovotesticular disorder of sex development skos:narrowMatch OMIM:400045 semapv:UnspecifiedMatching +GARD:16586 Nodular neuronal heterotopia skos:exactMatch Orphanet:2149 semapv:UnspecifiedMatching +GARD:16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:300049 semapv:UnspecifiedMatching +GARD:16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:608097 semapv:UnspecifiedMatching +GARD:16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:608098 semapv:UnspecifiedMatching +GARD:16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:612881 semapv:UnspecifiedMatching +GARD:16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:615544 semapv:UnspecifiedMatching +GARD:16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:617201 semapv:UnspecifiedMatching +GARD:16587 Idiopathic hypercalciuria skos:exactMatch Orphanet:2197 semapv:UnspecifiedMatching +GARD:16587 Idiopathic hypercalciuria skos:narrowMatch OMIM:143870 semapv:UnspecifiedMatching +GARD:16587 Idiopathic hypercalciuria skos:narrowMatch OMIM:607258 semapv:UnspecifiedMatching +GARD:16588 Primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch Orphanet:2232 semapv:UnspecifiedMatching +GARD:16588 Primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:narrowMatch OMIM:241090 semapv:UnspecifiedMatching +GARD:16589 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch Orphanet:2239 semapv:UnspecifiedMatching +GARD:16589 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:narrowMatch OMIM:146200 semapv:UnspecifiedMatching +GARD:16589 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:narrowMatch OMIM:307700 semapv:UnspecifiedMatching +GARD:16590 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2250 semapv:UnspecifiedMatching +GARD:16590 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:narrowMatch OMIM:603457 semapv:UnspecifiedMatching +GARD:16591 Primary pulmonary hypoplasia skos:exactMatch Orphanet:2257 semapv:UnspecifiedMatching +GARD:16591 Primary pulmonary hypoplasia skos:narrowMatch OMIM:265430 semapv:UnspecifiedMatching +GARD:16592 Congenital short bowel syndrome skos:exactMatch Orphanet:2301 semapv:UnspecifiedMatching +GARD:16592 Congenital short bowel syndrome skos:narrowMatch OMIM:300048 semapv:UnspecifiedMatching +GARD:16592 Congenital short bowel syndrome skos:narrowMatch OMIM:615237 semapv:UnspecifiedMatching +GARD:16593 Absence deformity of leg-cataract syndrome skos:exactMatch Orphanet:2310 semapv:UnspecifiedMatching +GARD:16593 Absence deformity of leg-cataract syndrome skos:narrowMatch OMIM:246000 semapv:UnspecifiedMatching +GARD:16594 Kenny-Caffey syndrome skos:exactMatch Orphanet:2333 semapv:UnspecifiedMatching +GARD:16594 Kenny-Caffey syndrome skos:narrowMatch OMIM:127000 semapv:UnspecifiedMatching +GARD:16594 Kenny-Caffey syndrome skos:narrowMatch OMIM:244460 semapv:UnspecifiedMatching +GARD:16595 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch Orphanet:2370 semapv:UnspecifiedMatching +GARD:16595 Larsen-like osseous dysplasia-short stature syndrome skos:narrowMatch OMIM:608545 semapv:UnspecifiedMatching +GARD:16596 Congenital laryngeal web skos:exactMatch Orphanet:2374 semapv:UnspecifiedMatching +GARD:16596 Congenital laryngeal web skos:narrowMatch OMIM:150360 semapv:UnspecifiedMatching +GARD:16597 Laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch Orphanet:2375 semapv:UnspecifiedMatching +GARD:16597 Laryngeal abductor paralysis-intellectual disability syndrome skos:narrowMatch OMIM:308850 semapv:UnspecifiedMatching +GARD:16598 Macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch Orphanet:2429 semapv:UnspecifiedMatching +GARD:16598 Macrocephaly-spastic paraplegia-dysmorphism syndrome skos:narrowMatch OMIM:600302 semapv:UnspecifiedMatching +GARD:16599 Congenital macroglossia skos:exactMatch Orphanet:2430 semapv:UnspecifiedMatching +GARD:16599 Congenital macroglossia skos:narrowMatch OMIM:153630 semapv:UnspecifiedMatching +GARD:166 Schizencephaly skos:exactMatch Orphanet:799 semapv:UnspecifiedMatching +GARD:166 Schizencephaly skos:narrowMatch OMIM:269160 semapv:UnspecifiedMatching +GARD:16600 Mucocutaneous venous malformations skos:exactMatch Orphanet:2451 semapv:UnspecifiedMatching +GARD:16600 Mucocutaneous venous malformations skos:narrowMatch OMIM:600195 semapv:UnspecifiedMatching +GARD:16601 Megalencephaly skos:exactMatch Orphanet:2477 semapv:UnspecifiedMatching +GARD:16601 Megalencephaly skos:narrowMatch OMIM:155350 semapv:UnspecifiedMatching +GARD:16601 Megalencephaly skos:narrowMatch OMIM:248000 semapv:UnspecifiedMatching +GARD:16602 Upper limb defect-eye and ear abnormalities syndrome skos:exactMatch Orphanet:2489 semapv:UnspecifiedMatching +GARD:16602 Upper limb defect-eye and ear abnormalities syndrome skos:narrowMatch OMIM:274205 semapv:UnspecifiedMatching +GARD:16603 Autosomal recessive chorioretinopathy-microcephaly syndrome skos:exactMatch Orphanet:2518 semapv:UnspecifiedMatching +GARD:16603 Autosomal recessive chorioretinopathy-microcephaly syndrome skos:narrowMatch OMIM:251270 semapv:UnspecifiedMatching +GARD:16603 Autosomal recessive chorioretinopathy-microcephaly syndrome skos:narrowMatch OMIM:616335 semapv:UnspecifiedMatching +GARD:16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching +GARD:16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:narrowMatch OMIM:616286 semapv:UnspecifiedMatching +GARD:16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:narrowMatch OMIM:616287 semapv:UnspecifiedMatching +GARD:16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:narrowMatch OMIM:617468 semapv:UnspecifiedMatching +GARD:16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:narrowMatch OMIM:618186 semapv:UnspecifiedMatching +GARD:16605 Adult idiopathic neutropenia skos:exactMatch Orphanet:2688 semapv:UnspecifiedMatching +GARD:16605 Adult idiopathic neutropenia skos:narrowMatch OMIM:607847 semapv:UnspecifiedMatching +GARD:16606 Oculo-palato-cerebral syndrome skos:exactMatch Orphanet:2714 semapv:UnspecifiedMatching +GARD:16606 Oculo-palato-cerebral syndrome skos:narrowMatch OMIM:257910 semapv:UnspecifiedMatching +GARD:16607 Oculotrichodysplasia skos:exactMatch Orphanet:2718 semapv:UnspecifiedMatching +GARD:16607 Oculotrichodysplasia skos:narrowMatch OMIM:257960 semapv:UnspecifiedMatching +GARD:16608 Omodysplasia skos:exactMatch Orphanet:2733 semapv:UnspecifiedMatching +GARD:16608 Omodysplasia skos:narrowMatch OMIM:164745 semapv:UnspecifiedMatching +GARD:16608 Omodysplasia skos:narrowMatch OMIM:258315 semapv:UnspecifiedMatching +GARD:16609 Familial recurrent peripheral facial palsy skos:exactMatch Orphanet:2809 semapv:UnspecifiedMatching +GARD:16609 Familial recurrent peripheral facial palsy skos:narrowMatch OMIM:134200 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:exactMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:300557 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:600116 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:602404 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:605909 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:606324 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:606852 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:610297 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:613643 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:615528 semapv:UnspecifiedMatching +GARD:16610 Young-onset Parkinson disease skos:narrowMatch OMIM:616840 semapv:UnspecifiedMatching +GARD:16611 Pelvis-shoulder dysplasia skos:exactMatch Orphanet:2839 semapv:UnspecifiedMatching +GARD:16611 Pelvis-shoulder dysplasia skos:narrowMatch OMIM:169550 semapv:UnspecifiedMatching +GARD:16612 Short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch Orphanet:2868 semapv:UnspecifiedMatching +GARD:16612 Short stature-valvular heart disease-characteristic facies syndrome skos:narrowMatch OMIM:126190 semapv:UnspecifiedMatching +GARD:16613 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch Orphanet:2880 semapv:UnspecifiedMatching +GARD:16613 Phosphoenolpyruvate carboxykinase deficiency skos:narrowMatch OMIM:261650 semapv:UnspecifiedMatching +GARD:16613 Phosphoenolpyruvate carboxykinase deficiency skos:narrowMatch OMIM:261680 semapv:UnspecifiedMatching +GARD:16614 Postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch Orphanet:2916 semapv:UnspecifiedMatching +GARD:16614 Postaxial polydactyly-dental and vertebral anomalies syndrome skos:narrowMatch OMIM:263540 semapv:UnspecifiedMatching +GARD:16615 Absent thumb-short stature-immunodeficiency syndrome skos:exactMatch Orphanet:2951 semapv:UnspecifiedMatching +GARD:16615 Absent thumb-short stature-immunodeficiency syndrome skos:narrowMatch OMIM:274190 semapv:UnspecifiedMatching +GARD:16616 Leukocyte adhesion deficiency skos:exactMatch Orphanet:2968 semapv:UnspecifiedMatching +GARD:16616 Leukocyte adhesion deficiency skos:narrowMatch OMIM:116920 semapv:UnspecifiedMatching +GARD:16616 Leukocyte adhesion deficiency skos:narrowMatch OMIM:266265 semapv:UnspecifiedMatching +GARD:16616 Leukocyte adhesion deficiency skos:narrowMatch OMIM:612840 semapv:UnspecifiedMatching +GARD:16617 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch Orphanet:2975 semapv:UnspecifiedMatching +GARD:16617 46,XX disorder of sex development-skeletal anomalies syndrome skos:narrowMatch OMIM:264270 semapv:UnspecifiedMatching +GARD:16618 Blepharophimosis-intellectual disability syndrome, SBBYS type skos:exactMatch Orphanet:3047 semapv:UnspecifiedMatching +GARD:16618 Blepharophimosis-intellectual disability syndrome, SBBYS type skos:narrowMatch OMIM:603736 semapv:UnspecifiedMatching +GARD:16619 Fixed subaortic stenosis skos:exactMatch Orphanet:3092 semapv:UnspecifiedMatching +GARD:16619 Fixed subaortic stenosis skos:narrowMatch OMIM:271950 semapv:UnspecifiedMatching +GARD:16620 Autosomal dominant Robinow syndrome skos:exactMatch Orphanet:3107 semapv:UnspecifiedMatching +GARD:16620 Autosomal dominant Robinow syndrome skos:narrowMatch OMIM:180700 semapv:UnspecifiedMatching +GARD:16620 Autosomal dominant Robinow syndrome skos:narrowMatch OMIM:616331 semapv:UnspecifiedMatching +GARD:16620 Autosomal dominant Robinow syndrome skos:narrowMatch OMIM:616894 semapv:UnspecifiedMatching +GARD:16621 Alpha-N-acetylgalactosaminidase deficiency skos:exactMatch Orphanet:3137 semapv:UnspecifiedMatching +GARD:16621 Alpha-N-acetylgalactosaminidase deficiency skos:narrowMatch OMIM:609241 semapv:UnspecifiedMatching +GARD:16621 Alpha-N-acetylgalactosaminidase deficiency skos:narrowMatch OMIM:609242 semapv:UnspecifiedMatching +GARD:16622 X-linked spasticity-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:3175 semapv:UnspecifiedMatching +GARD:16622 X-linked spasticity-intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:308350 semapv:UnspecifiedMatching +GARD:16623 Congenital pulmonary valvar stenosis skos:exactMatch Orphanet:3189 semapv:UnspecifiedMatching +GARD:16623 Congenital pulmonary valvar stenosis skos:narrowMatch OMIM:265500 semapv:UnspecifiedMatching +GARD:16624 Deafness-onychodystrophy syndrome skos:exactMatch Orphanet:3231 semapv:UnspecifiedMatching +GARD:16624 Deafness-onychodystrophy syndrome skos:narrowMatch OMIM:124480 semapv:UnspecifiedMatching +GARD:16624 Deafness-onychodystrophy syndrome skos:narrowMatch OMIM:220500 semapv:UnspecifiedMatching +GARD:16625 Idiopathic hypereosinophilic syndrome skos:exactMatch Orphanet:3260 semapv:UnspecifiedMatching +GARD:16625 Idiopathic hypereosinophilic syndrome skos:narrowMatch OMIM:607685 semapv:UnspecifiedMatching +GARD:16626 Non-syndromic metopic craniosynostosis skos:exactMatch Orphanet:3366 semapv:UnspecifiedMatching +GARD:16626 Non-syndromic metopic craniosynostosis skos:narrowMatch OMIM:190440 semapv:UnspecifiedMatching +GARD:16626 Non-syndromic metopic craniosynostosis skos:narrowMatch OMIM:614485 semapv:UnspecifiedMatching +GARD:16627 Truncus arteriosus skos:exactMatch Orphanet:3384 semapv:UnspecifiedMatching +GARD:16627 Truncus arteriosus skos:narrowMatch OMIM:217095 semapv:UnspecifiedMatching +GARD:16628 Hereditary xanthinuria skos:exactMatch Orphanet:3467 semapv:UnspecifiedMatching +GARD:16628 Hereditary xanthinuria skos:narrowMatch OMIM:278300 semapv:UnspecifiedMatching +GARD:16628 Hereditary xanthinuria skos:narrowMatch OMIM:603592 semapv:UnspecifiedMatching +GARD:16629 Hereditary central diabetes insipidus skos:exactMatch Orphanet:30925 semapv:UnspecifiedMatching +GARD:16629 Hereditary central diabetes insipidus skos:narrowMatch OMIM:125700 semapv:UnspecifiedMatching +GARD:16629 Hereditary central diabetes insipidus skos:narrowMatch OMIM:304900 semapv:UnspecifiedMatching +GARD:16630 Neuroectodermal melanolysosomal disease skos:exactMatch Orphanet:33445 semapv:UnspecifiedMatching +GARD:16630 Neuroectodermal melanolysosomal disease skos:narrowMatch OMIM:256710 semapv:UnspecifiedMatching +GARD:16631 Glutamate-cysteine ligase deficiency skos:exactMatch Orphanet:33574 semapv:UnspecifiedMatching +GARD:16631 Glutamate-cysteine ligase deficiency skos:narrowMatch OMIM:230450 semapv:UnspecifiedMatching +GARD:16632 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch Orphanet:35078 semapv:UnspecifiedMatching +GARD:16632 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:narrowMatch OMIM:600802 semapv:UnspecifiedMatching +GARD:16633 Non-syndromic sagittal craniosynostosis skos:exactMatch Orphanet:35093 semapv:UnspecifiedMatching +GARD:16633 Non-syndromic sagittal craniosynostosis skos:narrowMatch OMIM:123100 semapv:UnspecifiedMatching +GARD:16633 Non-syndromic sagittal craniosynostosis skos:narrowMatch OMIM:600775 semapv:UnspecifiedMatching +GARD:16633 Non-syndromic sagittal craniosynostosis skos:narrowMatch OMIM:615529 semapv:UnspecifiedMatching +GARD:16634 Non-syndromic bicoronal craniosynostosis skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching +GARD:16634 Non-syndromic bicoronal craniosynostosis skos:narrowMatch OMIM:123100 semapv:UnspecifiedMatching +GARD:16634 Non-syndromic bicoronal craniosynostosis skos:narrowMatch OMIM:615314 semapv:UnspecifiedMatching +GARD:16634 Non-syndromic bicoronal craniosynostosis skos:narrowMatch OMIM:616602 semapv:UnspecifiedMatching +GARD:16635 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch Orphanet:35120 semapv:UnspecifiedMatching +GARD:16635 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:narrowMatch OMIM:266120 semapv:UnspecifiedMatching +GARD:16636 Lysosomal acid phosphatase deficiency skos:exactMatch Orphanet:35121 semapv:UnspecifiedMatching +GARD:16636 Lysosomal acid phosphatase deficiency skos:narrowMatch OMIM:200950 semapv:UnspecifiedMatching +GARD:16637 Nanophthalmos skos:exactMatch Orphanet:35612 semapv:UnspecifiedMatching +GARD:16637 Nanophthalmos skos:narrowMatch OMIM:600165 semapv:UnspecifiedMatching +GARD:16637 Nanophthalmos skos:narrowMatch OMIM:609549 semapv:UnspecifiedMatching +GARD:16637 Nanophthalmos skos:narrowMatch OMIM:611897 semapv:UnspecifiedMatching +GARD:16637 Nanophthalmos skos:narrowMatch OMIM:613517 semapv:UnspecifiedMatching +GARD:16637 Nanophthalmos skos:narrowMatch OMIM:615972 semapv:UnspecifiedMatching +GARD:16638 ALDH18A1-related De Barsy syndrome skos:exactMatch Orphanet:35664 semapv:UnspecifiedMatching +GARD:16638 ALDH18A1-related De Barsy syndrome skos:narrowMatch OMIM:219150 semapv:UnspecifiedMatching +GARD:16639 Combined deficiency of factor V and factor VIII skos:exactMatch Orphanet:35909 semapv:UnspecifiedMatching +GARD:16639 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:227300 semapv:UnspecifiedMatching +GARD:16639 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:227310 semapv:UnspecifiedMatching +GARD:16639 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:613625 semapv:UnspecifiedMatching +GARD:16640 Distal monosomy 1q skos:exactMatch Orphanet:36367 semapv:UnspecifiedMatching +GARD:16640 Distal monosomy 1q skos:narrowMatch OMIM:612337 semapv:UnspecifiedMatching +GARD:16641 Episodic ataxia type 1 skos:exactMatch Orphanet:37612 semapv:UnspecifiedMatching +GARD:16641 Episodic ataxia type 1 skos:narrowMatch OMIM:160120 semapv:UnspecifiedMatching +GARD:16642 Graft versus host disease skos:exactMatch Orphanet:39812 semapv:UnspecifiedMatching +GARD:16642 Graft versus host disease skos:narrowMatch OMIM:614395 semapv:UnspecifiedMatching +GARD:16643 Hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch Orphanet:43115 semapv:UnspecifiedMatching +GARD:16643 Hereditary myopathy with lactic acidosis due to ISCU deficiency skos:narrowMatch OMIM:255125 semapv:UnspecifiedMatching +GARD:16644 Proximal renal tubular acidosis skos:exactMatch Orphanet:47159 semapv:UnspecifiedMatching +GARD:16644 Proximal renal tubular acidosis skos:narrowMatch OMIM:179830 semapv:UnspecifiedMatching +GARD:16644 Proximal renal tubular acidosis skos:narrowMatch OMIM:604278 semapv:UnspecifiedMatching +GARD:16645 Congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch Orphanet:48431 semapv:UnspecifiedMatching +GARD:16645 Congenital cataracts-facial dysmorphism-neuropathy syndrome skos:narrowMatch OMIM:604168 semapv:UnspecifiedMatching +GARD:16646 Lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch Orphanet:50811 semapv:UnspecifiedMatching +GARD:16646 Lipodystrophy-intellectual disability-deafness syndrome skos:narrowMatch OMIM:608154 semapv:UnspecifiedMatching +GARD:16647 Craniolenticulosutural dysplasia skos:exactMatch Orphanet:50814 semapv:UnspecifiedMatching +GARD:16647 Craniolenticulosutural dysplasia skos:narrowMatch OMIM:607812 semapv:UnspecifiedMatching +GARD:16648 Branchiogenic deafness syndrome skos:exactMatch Orphanet:50815 semapv:UnspecifiedMatching +GARD:16648 Branchiogenic deafness syndrome skos:narrowMatch OMIM:609166 semapv:UnspecifiedMatching +GARD:16649 Schöpf-Schulz-Passarge syndrome skos:exactMatch Orphanet:50944 semapv:UnspecifiedMatching +GARD:16649 Schöpf-Schulz-Passarge syndrome skos:narrowMatch OMIM:224750 semapv:UnspecifiedMatching +GARD:16650 Familial short QT syndrome skos:exactMatch Orphanet:51083 semapv:UnspecifiedMatching +GARD:16650 Familial short QT syndrome skos:narrowMatch OMIM:609620 semapv:UnspecifiedMatching +GARD:16650 Familial short QT syndrome skos:narrowMatch OMIM:609621 semapv:UnspecifiedMatching +GARD:16650 Familial short QT syndrome skos:narrowMatch OMIM:609622 semapv:UnspecifiedMatching +GARD:16651 Torsade-de-pointes syndrome with short coupling interval skos:exactMatch Orphanet:51084 semapv:UnspecifiedMatching +GARD:16651 Torsade-de-pointes syndrome with short coupling interval skos:narrowMatch OMIM:613600 semapv:UnspecifiedMatching +GARD:16652 Braddock syndrome skos:exactMatch Orphanet:52047 semapv:UnspecifiedMatching +GARD:16652 Braddock syndrome skos:narrowMatch OMIM:608406 semapv:UnspecifiedMatching +GARD:16653 Craniosynostosis-intracranial calcifications syndrome skos:exactMatch Orphanet:52054 semapv:UnspecifiedMatching +GARD:16653 Craniosynostosis-intracranial calcifications syndrome skos:narrowMatch OMIM:608432 semapv:UnspecifiedMatching +GARD:16654 Ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch Orphanet:52056 semapv:UnspecifiedMatching +GARD:16654 Ulnar/fibula ray defect-brachydactyly syndrome skos:narrowMatch OMIM:608571 semapv:UnspecifiedMatching +GARD:16655 Retinitis punctata albescens skos:exactMatch Orphanet:52427 semapv:UnspecifiedMatching +GARD:16655 Retinitis punctata albescens skos:narrowMatch OMIM:136880 semapv:UnspecifiedMatching +GARD:16656 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity skos:exactMatch Orphanet:53583 semapv:UnspecifiedMatching +GARD:16656 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity skos:narrowMatch OMIM:601042 semapv:UnspecifiedMatching +GARD:16657 Congenital cornea plana skos:exactMatch Orphanet:53691 semapv:UnspecifiedMatching +GARD:16657 Congenital cornea plana skos:narrowMatch OMIM:121400 semapv:UnspecifiedMatching +GARD:16657 Congenital cornea plana skos:narrowMatch OMIM:217300 semapv:UnspecifiedMatching +GARD:16658 Arthrogryposis-anterior horn cell disease syndrome skos:exactMatch Orphanet:53696 semapv:UnspecifiedMatching +GARD:16658 Arthrogryposis-anterior horn cell disease syndrome skos:narrowMatch OMIM:611890 semapv:UnspecifiedMatching +GARD:16659 Thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:54057 semapv:UnspecifiedMatching +GARD:16659 Thrombotic thrombocytopenic purpura skos:narrowMatch OMIM:274150 semapv:UnspecifiedMatching +GARD:1666 Hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch Orphanet:2181 semapv:UnspecifiedMatching +GARD:1666 Hydrocephaly-tall stature-joint laxity syndrome skos:narrowMatch OMIM:236660 semapv:UnspecifiedMatching +GARD:16660 Adamantinoma skos:exactMatch Orphanet:55881 semapv:UnspecifiedMatching +GARD:16660 Adamantinoma skos:narrowMatch OMIM:102660 semapv:UnspecifiedMatching +GARD:16661 Schilder disease skos:exactMatch Orphanet:59298 semapv:UnspecifiedMatching +GARD:16661 Schilder disease skos:narrowMatch OMIM:272100 semapv:UnspecifiedMatching +GARD:16662 Enlarged parietal foramina skos:exactMatch Orphanet:60015 semapv:UnspecifiedMatching +GARD:16662 Enlarged parietal foramina skos:narrowMatch OMIM:168500 semapv:UnspecifiedMatching +GARD:16662 Enlarged parietal foramina skos:narrowMatch OMIM:609566 semapv:UnspecifiedMatching +GARD:16662 Enlarged parietal foramina skos:narrowMatch OMIM:609597 semapv:UnspecifiedMatching +GARD:16663 Pulmonary nodular lymphoid hyperplasia skos:exactMatch Orphanet:60026 semapv:UnspecifiedMatching +GARD:16663 Pulmonary nodular lymphoid hyperplasia skos:narrowMatch OMIM:178610 semapv:UnspecifiedMatching +GARD:16664 Idiopathic bronchiectasis skos:exactMatch Orphanet:60033 semapv:UnspecifiedMatching +GARD:16664 Idiopathic bronchiectasis skos:narrowMatch OMIM:211400 semapv:UnspecifiedMatching +GARD:16664 Idiopathic bronchiectasis skos:narrowMatch OMIM:613021 semapv:UnspecifiedMatching +GARD:16664 Idiopathic bronchiectasis skos:narrowMatch OMIM:613071 semapv:UnspecifiedMatching +GARD:16665 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis skos:exactMatch Orphanet:63269 semapv:UnspecifiedMatching +GARD:16665 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis skos:narrowMatch OMIM:201750 semapv:UnspecifiedMatching +GARD:16666 Distal myopathy with posterior leg and anterior hand involvement skos:exactMatch Orphanet:63273 semapv:UnspecifiedMatching +GARD:16666 Distal myopathy with posterior leg and anterior hand involvement skos:narrowMatch OMIM:614065 semapv:UnspecifiedMatching +GARD:16667 Childhood absence epilepsy skos:exactMatch Orphanet:64280 semapv:UnspecifiedMatching +GARD:16667 Childhood absence epilepsy skos:narrowMatch OMIM:600131 semapv:UnspecifiedMatching +GARD:16667 Childhood absence epilepsy skos:narrowMatch OMIM:607681 semapv:UnspecifiedMatching +GARD:16667 Childhood absence epilepsy skos:narrowMatch OMIM:611136 semapv:UnspecifiedMatching +GARD:16667 Childhood absence epilepsy skos:narrowMatch OMIM:611942 semapv:UnspecifiedMatching +GARD:16667 Childhood absence epilepsy skos:narrowMatch OMIM:612269 semapv:UnspecifiedMatching +GARD:16668 Ovarian hyperstimulation syndrome skos:exactMatch Orphanet:64739 semapv:UnspecifiedMatching +GARD:16668 Ovarian hyperstimulation syndrome skos:narrowMatch OMIM:608115 semapv:UnspecifiedMatching +GARD:16669 Beta-ureidopropionase deficiency skos:exactMatch Orphanet:65287 semapv:UnspecifiedMatching +GARD:16669 Beta-ureidopropionase deficiency skos:narrowMatch OMIM:613161 semapv:UnspecifiedMatching +GARD:16670 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch Orphanet:65288 semapv:UnspecifiedMatching +GARD:16670 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:narrowMatch OMIM:609069 semapv:UnspecifiedMatching +GARD:16671 Isolated focal cortical dysplasia skos:exactMatch Orphanet:65683 semapv:UnspecifiedMatching +GARD:16671 Isolated focal cortical dysplasia skos:narrowMatch OMIM:607341 semapv:UnspecifiedMatching +GARD:16672 Arthrogryposis-severe scoliosis syndrome skos:exactMatch Orphanet:65720 semapv:UnspecifiedMatching +GARD:16672 Arthrogryposis-severe scoliosis syndrome skos:narrowMatch OMIM:609128 semapv:UnspecifiedMatching +GARD:16673 Congenital pseudoarthrosis of the clavicle skos:exactMatch Orphanet:66630 semapv:UnspecifiedMatching +GARD:16673 Congenital pseudoarthrosis of the clavicle skos:narrowMatch OMIM:118980 semapv:UnspecifiedMatching +GARD:16674 Diaphanospondylodysostosis skos:exactMatch Orphanet:66637 semapv:UnspecifiedMatching +GARD:16674 Diaphanospondylodysostosis skos:narrowMatch OMIM:608022 semapv:UnspecifiedMatching +GARD:16675 Hyaluronidase deficiency skos:exactMatch Orphanet:67041 semapv:UnspecifiedMatching +GARD:16675 Hyaluronidase deficiency skos:narrowMatch OMIM:601492 semapv:UnspecifiedMatching +GARD:16676 Thrombocytopenia with congenital dyserythropoietic anemia skos:exactMatch Orphanet:67044 semapv:UnspecifiedMatching +GARD:16676 Thrombocytopenia with congenital dyserythropoietic anemia skos:narrowMatch OMIM:300367 semapv:UnspecifiedMatching +GARD:16677 X-linked intellectual disability with isolated growth hormone deficiency skos:exactMatch Orphanet:67045 semapv:UnspecifiedMatching +GARD:16677 X-linked intellectual disability with isolated growth hormone deficiency skos:narrowMatch OMIM:300123 semapv:UnspecifiedMatching +GARD:16678 Idiopathic steroid-sensitive nephrotic syndrome skos:exactMatch Orphanet:69061 semapv:UnspecifiedMatching +GARD:16678 Idiopathic steroid-sensitive nephrotic syndrome skos:narrowMatch OMIM:615861 semapv:UnspecifiedMatching +GARD:16679 Odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch Orphanet:69082 semapv:UnspecifiedMatching +GARD:16679 Odonto-tricho-ungual-digito-palmar syndrome skos:narrowMatch OMIM:601957 semapv:UnspecifiedMatching +GARD:16680 Pure hair and nail ectodermal dysplasia skos:exactMatch Orphanet:69084 semapv:UnspecifiedMatching +GARD:16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:602032 semapv:UnspecifiedMatching +GARD:16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:614927 semapv:UnspecifiedMatching +GARD:16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:614928 semapv:UnspecifiedMatching +GARD:16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:614929 semapv:UnspecifiedMatching +GARD:16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:614931 semapv:UnspecifiedMatching +GARD:16681 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch Orphanet:69088 semapv:UnspecifiedMatching +GARD:16681 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:narrowMatch OMIM:300291 semapv:UnspecifiedMatching +GARD:16682 Anonychia with flexural pigmentation skos:exactMatch Orphanet:69125 semapv:UnspecifiedMatching +GARD:16682 Anonychia with flexural pigmentation skos:narrowMatch OMIM:106750 semapv:UnspecifiedMatching +GARD:16683 Low phospholipid-associated cholelithiasis skos:exactMatch Orphanet:69663 semapv:UnspecifiedMatching +GARD:16683 Low phospholipid-associated cholelithiasis skos:narrowMatch OMIM:600803 semapv:UnspecifiedMatching +GARD:16684 Bosley-Salih-Alorainy syndrome skos:exactMatch Orphanet:69737 semapv:UnspecifiedMatching +GARD:16684 Bosley-Salih-Alorainy syndrome skos:narrowMatch OMIM:601536 semapv:UnspecifiedMatching +GARD:16685 Leigh syndrome with cardiomyopathy skos:exactMatch Orphanet:70474 semapv:UnspecifiedMatching +GARD:16685 Leigh syndrome with cardiomyopathy skos:narrowMatch OMIM:256000 semapv:UnspecifiedMatching +GARD:16685 Leigh syndrome with cardiomyopathy skos:narrowMatch OMIM:618228 semapv:UnspecifiedMatching +GARD:16685 Leigh syndrome with cardiomyopathy skos:narrowMatch OMIM:618252 semapv:UnspecifiedMatching +GARD:16686 Split hand-split foot-deafness syndrome skos:exactMatch Orphanet:71271 semapv:UnspecifiedMatching +GARD:16686 Split hand-split foot-deafness syndrome skos:narrowMatch OMIM:220600 semapv:UnspecifiedMatching +GARD:16687 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch Orphanet:71289 semapv:UnspecifiedMatching +GARD:16687 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:narrowMatch OMIM:605432 semapv:UnspecifiedMatching +GARD:16687 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:narrowMatch OMIM:616738 semapv:UnspecifiedMatching +GARD:16688 Familial thrombocytosis skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching +GARD:16688 Familial thrombocytosis skos:narrowMatch OMIM:187950 semapv:UnspecifiedMatching +GARD:16688 Familial thrombocytosis skos:narrowMatch OMIM:601977 semapv:UnspecifiedMatching +GARD:16688 Familial thrombocytosis skos:narrowMatch OMIM:614521 semapv:UnspecifiedMatching +GARD:16689 Obesity due to prohormone convertase I deficiency skos:exactMatch Orphanet:71528 semapv:UnspecifiedMatching +GARD:16689 Obesity due to prohormone convertase I deficiency skos:narrowMatch OMIM:600955 semapv:UnspecifiedMatching +GARD:1669 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch Orphanet:1566 semapv:UnspecifiedMatching +GARD:1669 Dandy-Walker malformation-postaxial polydactyly syndrome skos:narrowMatch OMIM:220220 semapv:UnspecifiedMatching +GARD:16690 Obesity due to melanocortin 4 receptor deficiency skos:exactMatch Orphanet:71529 semapv:UnspecifiedMatching +GARD:16690 Obesity due to melanocortin 4 receptor deficiency skos:narrowMatch OMIM:601665 semapv:UnspecifiedMatching +GARD:16690 Obesity due to melanocortin 4 receptor deficiency skos:narrowMatch OMIM:618406 semapv:UnspecifiedMatching +GARD:16691 Bleeding diathesis due to a collagen receptor defect skos:exactMatch Orphanet:73271 semapv:UnspecifiedMatching +GARD:16691 Bleeding diathesis due to a collagen receptor defect skos:narrowMatch OMIM:614200 semapv:UnspecifiedMatching +GARD:16691 Bleeding diathesis due to a collagen receptor defect skos:narrowMatch OMIM:614201 semapv:UnspecifiedMatching +GARD:16692 Familial isolated restrictive cardiomyopathy skos:exactMatch Orphanet:75249 semapv:UnspecifiedMatching +GARD:16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:115210 semapv:UnspecifiedMatching +GARD:16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:609578 semapv:UnspecifiedMatching +GARD:16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:612422 semapv:UnspecifiedMatching +GARD:16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:615248 semapv:UnspecifiedMatching +GARD:16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:617047 semapv:UnspecifiedMatching +GARD:16693 Retinal arterial tortuosity skos:exactMatch Orphanet:75326 semapv:UnspecifiedMatching +GARD:16693 Retinal arterial tortuosity skos:narrowMatch OMIM:180000 semapv:UnspecifiedMatching +GARD:16694 Cystoid macular dystrophy skos:exactMatch Orphanet:75381 semapv:UnspecifiedMatching +GARD:16694 Cystoid macular dystrophy skos:narrowMatch OMIM:153880 semapv:UnspecifiedMatching +GARD:16695 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch Orphanet:75391 semapv:UnspecifiedMatching +GARD:16695 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:narrowMatch OMIM:609981 semapv:UnspecifiedMatching +GARD:16696 Juvenile polyposis of infancy skos:exactMatch Orphanet:79076 semapv:UnspecifiedMatching +GARD:16696 Juvenile polyposis of infancy skos:narrowMatch OMIM:175050 semapv:UnspecifiedMatching +GARD:16696 Juvenile polyposis of infancy skos:narrowMatch OMIM:612242 semapv:UnspecifiedMatching +GARD:16697 Grange syndrome skos:exactMatch Orphanet:79094 semapv:UnspecifiedMatching +GARD:16697 Grange syndrome skos:narrowMatch OMIM:602531 semapv:UnspecifiedMatching +GARD:16698 Eiken syndrome skos:exactMatch Orphanet:79106 semapv:UnspecifiedMatching +GARD:16698 Eiken syndrome skos:narrowMatch OMIM:600002 semapv:UnspecifiedMatching +GARD:16699 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome skos:exactMatch Orphanet:79118 semapv:UnspecifiedMatching +GARD:16699 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome skos:narrowMatch OMIM:610199 semapv:UnspecifiedMatching +GARD:16700 Lymphoid interstitial pneumonia skos:exactMatch Orphanet:79128 semapv:UnspecifiedMatching +GARD:16700 Lymphoid interstitial pneumonia skos:narrowMatch OMIM:247610 semapv:UnspecifiedMatching +GARD:16701 DEND syndrome skos:exactMatch Orphanet:79134 semapv:UnspecifiedMatching +GARD:16701 DEND syndrome skos:narrowMatch OMIM:606176 semapv:UnspecifiedMatching +GARD:16702 Episodic ataxia type 3 skos:exactMatch Orphanet:79135 semapv:UnspecifiedMatching +GARD:16702 Episodic ataxia type 3 skos:narrowMatch OMIM:606554 semapv:UnspecifiedMatching +GARD:16703 Episodic ataxia type 4 skos:exactMatch Orphanet:79136 semapv:UnspecifiedMatching +GARD:16703 Episodic ataxia type 4 skos:narrowMatch OMIM:606552 semapv:UnspecifiedMatching +GARD:16704 Generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch Orphanet:79137 semapv:UnspecifiedMatching +GARD:16704 Generalized epilepsy-paroxysmal dyskinesia syndrome skos:narrowMatch OMIM:609446 semapv:UnspecifiedMatching +GARD:16705 Hereditary painful callosities skos:exactMatch Orphanet:79141 semapv:UnspecifiedMatching +GARD:16705 Hereditary painful callosities skos:narrowMatch OMIM:114140 semapv:UnspecifiedMatching +GARD:16706 Familial progressive hyperpigmentation skos:exactMatch Orphanet:79146 semapv:UnspecifiedMatching +GARD:16706 Familial progressive hyperpigmentation skos:narrowMatch OMIM:145250 semapv:UnspecifiedMatching +GARD:16706 Familial progressive hyperpigmentation skos:narrowMatch OMIM:614233 semapv:UnspecifiedMatching +GARD:16707 Acrokeratosis verruciformis of Hopf skos:exactMatch Orphanet:79151 semapv:UnspecifiedMatching +GARD:16707 Acrokeratosis verruciformis of Hopf skos:narrowMatch OMIM:101900 semapv:UnspecifiedMatching +GARD:16708 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch Orphanet:79154 semapv:UnspecifiedMatching +GARD:16708 2-aminoadipic 2-oxoadipic aciduria skos:narrowMatch OMIM:204750 semapv:UnspecifiedMatching +GARD:16709 Seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch Orphanet:79156 semapv:UnspecifiedMatching +GARD:16709 Seizures-intellectual disability due to hydroxylysinuria syndrome skos:narrowMatch OMIM:236900 semapv:UnspecifiedMatching +GARD:1671 Multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch Orphanet:2091 semapv:UnspecifiedMatching +GARD:1671 Multinodular goiter-cystic kidney-polydactyly syndrome skos:narrowMatch OMIM:138790 semapv:UnspecifiedMatching +GARD:16710 Hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch Orphanet:79233 semapv:UnspecifiedMatching +GARD:16710 Hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:narrowMatch OMIM:300323 semapv:UnspecifiedMatching +GARD:16711 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency skos:exactMatch Orphanet:79240 semapv:UnspecifiedMatching +GARD:16711 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency skos:narrowMatch OMIM:261750 semapv:UnspecifiedMatching +GARD:16712 Pyruvate dehydrogenase E2 deficiency skos:exactMatch Orphanet:79244 semapv:UnspecifiedMatching +GARD:16712 Pyruvate dehydrogenase E2 deficiency skos:narrowMatch OMIM:245348 semapv:UnspecifiedMatching +GARD:16713 Congenital bile acid synthesis defect type 3 skos:exactMatch Orphanet:79302 semapv:UnspecifiedMatching +GARD:16713 Congenital bile acid synthesis defect type 3 skos:narrowMatch OMIM:613812 semapv:UnspecifiedMatching +GARD:16714 Vitamin B12-unresponsive methylmalonic acidemia type mut- skos:exactMatch Orphanet:79312 semapv:UnspecifiedMatching +GARD:16714 Vitamin B12-unresponsive methylmalonic acidemia type mut- skos:narrowMatch OMIM:251000 semapv:UnspecifiedMatching +GARD:16715 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch Orphanet:79346 semapv:UnspecifiedMatching +GARD:16715 Chondrodysplasia punctata, tibial-metacarpal type skos:narrowMatch OMIM:118651 semapv:UnspecifiedMatching +GARD:16716 Chondrodysplasia punctata, Toriello type skos:exactMatch Orphanet:79347 semapv:UnspecifiedMatching +GARD:16716 Chondrodysplasia punctata, Toriello type skos:narrowMatch OMIM:215105 semapv:UnspecifiedMatching +GARD:16717 3-phosphoserine phosphatase deficiency, infantile/juvenile form skos:exactMatch Orphanet:79350 semapv:UnspecifiedMatching +GARD:16717 3-phosphoserine phosphatase deficiency, infantile/juvenile form skos:narrowMatch OMIM:614023 semapv:UnspecifiedMatching +GARD:16718 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form skos:exactMatch Orphanet:79351 semapv:UnspecifiedMatching +GARD:16718 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form skos:narrowMatch OMIM:601815 semapv:UnspecifiedMatching +GARD:16719 Keratoderma hereditarium mutilans with ichthyosis skos:exactMatch Orphanet:79395 semapv:UnspecifiedMatching +GARD:16719 Keratoderma hereditarium mutilans with ichthyosis skos:narrowMatch OMIM:604117 semapv:UnspecifiedMatching +GARD:16720 Recessive dystrophic epidermolysis bullosa inversa skos:exactMatch Orphanet:79409 semapv:UnspecifiedMatching +GARD:16720 Recessive dystrophic epidermolysis bullosa inversa skos:narrowMatch OMIM:226600 semapv:UnspecifiedMatching +GARD:16721 Oculocutaneous albinism type 1A skos:exactMatch Orphanet:79431 semapv:UnspecifiedMatching +GARD:16721 Oculocutaneous albinism type 1A skos:narrowMatch OMIM:203100 semapv:UnspecifiedMatching +GARD:16722 Oculocutaneous albinism type 4 skos:exactMatch Orphanet:79435 semapv:UnspecifiedMatching +GARD:16722 Oculocutaneous albinism type 4 skos:narrowMatch OMIM:606574 semapv:UnspecifiedMatching +GARD:16723 Maculopapular cutaneous mastocytosis skos:exactMatch Orphanet:79457 semapv:UnspecifiedMatching +GARD:16723 Maculopapular cutaneous mastocytosis skos:narrowMatch OMIM:154800 semapv:UnspecifiedMatching +GARD:16724 Cholesterol-ester transfer protein deficiency skos:exactMatch Orphanet:79506 semapv:UnspecifiedMatching +GARD:16724 Cholesterol-ester transfer protein deficiency skos:narrowMatch OMIM:143470 semapv:UnspecifiedMatching +GARD:16724 Cholesterol-ester transfer protein deficiency skos:narrowMatch OMIM:614028 semapv:UnspecifiedMatching +GARD:16725 Hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch Orphanet:79507 semapv:UnspecifiedMatching +GARD:16725 Hypotonia-failure to thrive-microcephaly syndrome skos:narrowMatch OMIM:614037 semapv:UnspecifiedMatching +GARD:16726 Autosomal recessive hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:79643 semapv:UnspecifiedMatching +GARD:16726 Autosomal recessive hyperinsulinism due to SUR1 deficiency skos:narrowMatch OMIM:256450 semapv:UnspecifiedMatching +GARD:16727 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:79644 semapv:UnspecifiedMatching +GARD:16727 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:narrowMatch OMIM:601820 semapv:UnspecifiedMatching +GARD:16728 Glomuvenous malformation skos:exactMatch Orphanet:83454 semapv:UnspecifiedMatching +GARD:16728 Glomuvenous malformation skos:narrowMatch OMIM:138000 semapv:UnspecifiedMatching +GARD:16729 Enteric anendocrinosis skos:exactMatch Orphanet:83620 semapv:UnspecifiedMatching +GARD:16729 Enteric anendocrinosis skos:narrowMatch OMIM:610370 semapv:UnspecifiedMatching +GARD:16730 Senior-Boichis syndrome skos:exactMatch Orphanet:84081 semapv:UnspecifiedMatching +GARD:16730 Senior-Boichis syndrome skos:narrowMatch OMIM:613550 semapv:UnspecifiedMatching +GARD:16730 Senior-Boichis syndrome skos:narrowMatch OMIM:616217 semapv:UnspecifiedMatching +GARD:16731 Hereditary thermosensitive neuropathy skos:exactMatch Orphanet:84093 semapv:UnspecifiedMatching +GARD:16731 Hereditary thermosensitive neuropathy skos:narrowMatch OMIM:602107 semapv:UnspecifiedMatching +GARD:16732 Desmin-related myopathy with Mallory body-like inclusions skos:exactMatch Orphanet:84132 semapv:UnspecifiedMatching +GARD:16732 Desmin-related myopathy with Mallory body-like inclusions skos:narrowMatch OMIM:602771 semapv:UnspecifiedMatching +GARD:16733 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch Orphanet:85112 semapv:UnspecifiedMatching +GARD:16733 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:narrowMatch OMIM:610644 semapv:UnspecifiedMatching +GARD:16734 Bothnia retinal dystrophy skos:exactMatch Orphanet:85128 semapv:UnspecifiedMatching +GARD:16734 Bothnia retinal dystrophy skos:narrowMatch OMIM:607475 semapv:UnspecifiedMatching +GARD:16735 Familial digital arthropathy-brachydactyly skos:exactMatch Orphanet:85169 semapv:UnspecifiedMatching +GARD:16735 Familial digital arthropathy-brachydactyly skos:narrowMatch OMIM:606835 semapv:UnspecifiedMatching +GARD:16736 Microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch Orphanet:85172 semapv:UnspecifiedMatching +GARD:16736 Microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:narrowMatch OMIM:618150 semapv:UnspecifiedMatching +GARD:16737 Craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch Orphanet:85184 semapv:UnspecifiedMatching +GARD:16737 Craniometadiaphyseal dysplasia, wormian bone type skos:narrowMatch OMIM:269300 semapv:UnspecifiedMatching +GARD:16738 Metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch Orphanet:85188 semapv:UnspecifiedMatching +GARD:16738 Metaphyseal dysplasia, Braun-Tinschert type skos:narrowMatch OMIM:605946 semapv:UnspecifiedMatching +GARD:16739 Calvarial doughnut lesions-bone fragility syndrome skos:exactMatch Orphanet:85192 semapv:UnspecifiedMatching +GARD:16739 Calvarial doughnut lesions-bone fragility syndrome skos:narrowMatch OMIM:126550 semapv:UnspecifiedMatching +GARD:16740 Spondylo-ocular syndrome skos:exactMatch Orphanet:85194 semapv:UnspecifiedMatching +GARD:16740 Spondylo-ocular syndrome skos:narrowMatch OMIM:605822 semapv:UnspecifiedMatching +GARD:16741 Genochondromatosis type 1 skos:exactMatch Orphanet:85197 semapv:UnspecifiedMatching +GARD:16741 Genochondromatosis type 1 skos:narrowMatch OMIM:137360 semapv:UnspecifiedMatching +GARD:16742 X-linked intellectual disability, Armfield type skos:exactMatch Orphanet:85276 semapv:UnspecifiedMatching +GARD:16742 X-linked intellectual disability, Armfield type skos:narrowMatch OMIM:300261 semapv:UnspecifiedMatching +GARD:16743 X-linked intellectual disability, Cantagrel type skos:exactMatch Orphanet:85277 semapv:UnspecifiedMatching +GARD:16743 X-linked intellectual disability, Cantagrel type skos:narrowMatch OMIM:300912 semapv:UnspecifiedMatching +GARD:16744 KDM5C-related syndromic X-linked intellectual disability skos:exactMatch Orphanet:85279 semapv:UnspecifiedMatching +GARD:16744 KDM5C-related syndromic X-linked intellectual disability skos:narrowMatch OMIM:300534 semapv:UnspecifiedMatching +GARD:16745 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch Orphanet:85280 semapv:UnspecifiedMatching +GARD:16745 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:narrowMatch OMIM:300471 semapv:UnspecifiedMatching +GARD:16746 BRESEK syndrome skos:exactMatch Orphanet:85284 semapv:UnspecifiedMatching +GARD:16746 BRESEK syndrome skos:narrowMatch OMIM:308205 semapv:UnspecifiedMatching +GARD:16747 X-linked intellectual disability, Wilson type skos:exactMatch Orphanet:85290 semapv:UnspecifiedMatching +GARD:16747 X-linked intellectual disability, Wilson type skos:narrowMatch OMIM:309545 semapv:UnspecifiedMatching +GARD:16748 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch Orphanet:85294 semapv:UnspecifiedMatching +GARD:16748 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:narrowMatch OMIM:300491 semapv:UnspecifiedMatching +GARD:16749 HSD10 disease, atypical type skos:exactMatch Orphanet:85295 semapv:UnspecifiedMatching +GARD:16749 HSD10 disease, atypical type skos:narrowMatch OMIM:300438 semapv:UnspecifiedMatching +GARD:16750 Deafness-intellectual disability syndrome, Martin-Probst type skos:exactMatch Orphanet:85321 semapv:UnspecifiedMatching +GARD:16750 Deafness-intellectual disability syndrome, Martin-Probst type skos:narrowMatch OMIM:300519 semapv:UnspecifiedMatching +GARD:16751 X-linked intellectual disability, Shrimpton type skos:exactMatch Orphanet:85324 semapv:UnspecifiedMatching +GARD:16751 X-linked intellectual disability, Shrimpton type skos:narrowMatch OMIM:300709 semapv:UnspecifiedMatching +GARD:16752 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome skos:exactMatch Orphanet:85329 semapv:UnspecifiedMatching +GARD:16752 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome skos:narrowMatch OMIM:304340 semapv:UnspecifiedMatching +GARD:16753 Fried syndrome skos:exactMatch Orphanet:85335 semapv:UnspecifiedMatching +GARD:16753 Fried syndrome skos:narrowMatch OMIM:304340 semapv:UnspecifiedMatching +GARD:16754 ATTRV30M amyloidosis skos:exactMatch Orphanet:85447 semapv:UnspecifiedMatching +GARD:16754 ATTRV30M amyloidosis skos:narrowMatch OMIM:105210 semapv:UnspecifiedMatching +GARD:16755 ATTRV122I amyloidosis skos:exactMatch Orphanet:85451 semapv:UnspecifiedMatching +GARD:16755 ATTRV122I amyloidosis skos:narrowMatch OMIM:105210 semapv:UnspecifiedMatching +GARD:16756 X-linked reticulate pigmentary disorder skos:exactMatch Orphanet:85453 semapv:UnspecifiedMatching +GARD:16756 X-linked reticulate pigmentary disorder skos:narrowMatch OMIM:301220 semapv:UnspecifiedMatching +GARD:16757 Helicoid peripapillary chorioretinal degeneration skos:exactMatch Orphanet:86813 semapv:UnspecifiedMatching +GARD:16757 Helicoid peripapillary chorioretinal degeneration skos:narrowMatch OMIM:108985 semapv:UnspecifiedMatching +GARD:16758 Benign adult familial myoclonic epilepsy skos:exactMatch Orphanet:86814 semapv:UnspecifiedMatching +GARD:16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:601068 semapv:UnspecifiedMatching +GARD:16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:607876 semapv:UnspecifiedMatching +GARD:16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:613608 semapv:UnspecifiedMatching +GARD:16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:615127 semapv:UnspecifiedMatching +GARD:16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:615400 semapv:UnspecifiedMatching +GARD:16759 Aplasia of lacrimal and salivary glands skos:exactMatch Orphanet:86815 semapv:UnspecifiedMatching +GARD:16759 Aplasia of lacrimal and salivary glands skos:narrowMatch OMIM:180920 semapv:UnspecifiedMatching +GARD:16760 Hemolytic anemia due to adenylate kinase deficiency skos:exactMatch Orphanet:86817 semapv:UnspecifiedMatching +GARD:16760 Hemolytic anemia due to adenylate kinase deficiency skos:narrowMatch OMIM:612631 semapv:UnspecifiedMatching +GARD:16761 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch Orphanet:86818 semapv:UnspecifiedMatching +GARD:16761 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:narrowMatch OMIM:300194 semapv:UnspecifiedMatching +GARD:16761 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:narrowMatch OMIM:300990 semapv:UnspecifiedMatching +GARD:16762 Atrichia with papular lesions skos:exactMatch Orphanet:86819 semapv:UnspecifiedMatching +GARD:16762 Atrichia with papular lesions skos:narrowMatch OMIM:209500 semapv:UnspecifiedMatching +GARD:16763 Lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch Orphanet:86822 semapv:UnspecifiedMatching +GARD:16763 Lissencephaly type 3-metacarpal bone dysplasia syndrome skos:narrowMatch OMIM:601160 semapv:UnspecifiedMatching +GARD:16764 Chronic myeloproliferative disease, unclassifiable skos:exactMatch Orphanet:86830 semapv:UnspecifiedMatching +GARD:16764 Chronic myeloproliferative disease, unclassifiable skos:narrowMatch OMIM:131440 semapv:UnspecifiedMatching +GARD:16765 Interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 semapv:UnspecifiedMatching +GARD:16765 Interdigitating dendritic cell sarcoma skos:narrowMatch OMIM:267730 semapv:UnspecifiedMatching +GARD:16766 Keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch Orphanet:86919 semapv:UnspecifiedMatching +GARD:16766 Keratosis palmaris et plantaris-clinodactyly syndrome skos:narrowMatch OMIM:148520 semapv:UnspecifiedMatching +GARD:16767 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch Orphanet:86923 semapv:UnspecifiedMatching +GARD:16767 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:narrowMatch OMIM:244850 semapv:UnspecifiedMatching +GARD:16768 Tritanopia skos:exactMatch Orphanet:88629 semapv:UnspecifiedMatching +GARD:16768 Tritanopia skos:narrowMatch OMIM:190900 semapv:UnspecifiedMatching +GARD:16769 Terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch Orphanet:88630 semapv:UnspecifiedMatching +GARD:16769 Terminal osseous dysplasia-pigmentary defects syndrome skos:narrowMatch OMIM:300244 semapv:UnspecifiedMatching +GARD:16770 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates skos:exactMatch Orphanet:88635 semapv:UnspecifiedMatching +GARD:16770 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates skos:narrowMatch OMIM:616231 semapv:UnspecifiedMatching +GARD:16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:exactMatch Orphanet:88637 semapv:UnspecifiedMatching +GARD:16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +GARD:16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:narrowMatch OMIM:614381 semapv:UnspecifiedMatching +GARD:16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:narrowMatch OMIM:616494 semapv:UnspecifiedMatching +GARD:16772 Autosomal dominant progressive nephropathy with hypertension skos:exactMatch Orphanet:88659 semapv:UnspecifiedMatching +GARD:16772 Autosomal dominant progressive nephropathy with hypertension skos:narrowMatch OMIM:161900 semapv:UnspecifiedMatching +GARD:16773 Hepatocellular carcinoma skos:exactMatch Orphanet:88673 semapv:UnspecifiedMatching +GARD:16773 Hepatocellular carcinoma skos:narrowMatch OMIM:114550 semapv:UnspecifiedMatching +GARD:16774 X-linked Alport syndrome skos:exactMatch Orphanet:88917 semapv:UnspecifiedMatching +GARD:16774 X-linked Alport syndrome skos:narrowMatch OMIM:301050 semapv:UnspecifiedMatching +GARD:16775 Pseudohypoaldosteronism type 2A skos:exactMatch Orphanet:88938 semapv:UnspecifiedMatching +GARD:16775 Pseudohypoaldosteronism type 2A skos:narrowMatch OMIM:145260 semapv:UnspecifiedMatching +GARD:16776 Pseudohypoaldosteronism type 2B skos:exactMatch Orphanet:88939 semapv:UnspecifiedMatching +GARD:16776 Pseudohypoaldosteronism type 2B skos:narrowMatch OMIM:614491 semapv:UnspecifiedMatching +GARD:16777 Pseudohypoaldosteronism type 2C skos:exactMatch Orphanet:88940 semapv:UnspecifiedMatching +GARD:16777 Pseudohypoaldosteronism type 2C skos:narrowMatch OMIM:614492 semapv:UnspecifiedMatching +GARD:16778 Autosomal recessive generalized epidermolysis bullosa simplex skos:exactMatch Orphanet:89838 semapv:UnspecifiedMatching +GARD:16778 Autosomal recessive generalized epidermolysis bullosa simplex skos:narrowMatch OMIM:601001 semapv:UnspecifiedMatching +GARD:16779 Dystrophic epidermolysis bullosa pruriginosa skos:exactMatch Orphanet:89843 semapv:UnspecifiedMatching +GARD:16779 Dystrophic epidermolysis bullosa pruriginosa skos:narrowMatch OMIM:604129 semapv:UnspecifiedMatching +GARD:16780 Lissencephaly syndrome, Norman-Roberts type skos:exactMatch Orphanet:89844 semapv:UnspecifiedMatching +GARD:16780 Lissencephaly syndrome, Norman-Roberts type skos:narrowMatch OMIM:257320 semapv:UnspecifiedMatching +GARD:16781 Autosomal dominant hypophosphatemic rickets skos:exactMatch Orphanet:89937 semapv:UnspecifiedMatching +GARD:16781 Autosomal dominant hypophosphatemic rickets skos:narrowMatch OMIM:193100 semapv:UnspecifiedMatching +GARD:16782 X-linked cone dysfunction syndrome with myopia skos:exactMatch Orphanet:90001 semapv:UnspecifiedMatching +GARD:16782 X-linked cone dysfunction syndrome with myopia skos:narrowMatch OMIM:300843 semapv:UnspecifiedMatching +GARD:16783 Primary immunodeficiency syndrome due to LAMTOR2 deficiency skos:exactMatch Orphanet:90023 semapv:UnspecifiedMatching +GARD:16783 Primary immunodeficiency syndrome due to LAMTOR2 deficiency skos:narrowMatch OMIM:610798 semapv:UnspecifiedMatching +GARD:16784 Hemolytic anemia due to glutathione reductase deficiency skos:exactMatch Orphanet:90030 semapv:UnspecifiedMatching +GARD:16784 Hemolytic anemia due to glutathione reductase deficiency skos:narrowMatch OMIM:618660 semapv:UnspecifiedMatching +GARD:16784 Hemolytic anemia due to glutathione reductase deficiency skos:narrowMatch OMIM:618667 semapv:UnspecifiedMatching +GARD:16785 Familial pseudohyperkalemia skos:exactMatch Orphanet:90044 semapv:UnspecifiedMatching +GARD:16785 Familial pseudohyperkalemia skos:narrowMatch OMIM:609153 semapv:UnspecifiedMatching +GARD:16786 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome skos:exactMatch Orphanet:90103 semapv:UnspecifiedMatching +GARD:16786 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome skos:narrowMatch OMIM:214370 semapv:UnspecifiedMatching +GARD:16787 Hereditary motor and sensory neuropathy type 6 skos:exactMatch Orphanet:90120 semapv:UnspecifiedMatching +GARD:16787 Hereditary motor and sensory neuropathy type 6 skos:narrowMatch OMIM:601152 semapv:UnspecifiedMatching +GARD:16787 Hereditary motor and sensory neuropathy type 6 skos:narrowMatch OMIM:616505 semapv:UnspecifiedMatching +GARD:16788 Klippel-Trénaunay syndrome skos:exactMatch Orphanet:90308 semapv:UnspecifiedMatching +GARD:16788 Klippel-Trénaunay syndrome skos:narrowMatch OMIM:149000 semapv:UnspecifiedMatching +GARD:16789 Hypotrichosis simplex of the scalp skos:exactMatch Orphanet:90368 semapv:UnspecifiedMatching +GARD:16789 Hypotrichosis simplex of the scalp skos:narrowMatch OMIM:146520 semapv:UnspecifiedMatching +GARD:16789 Hypotrichosis simplex of the scalp skos:narrowMatch OMIM:613981 semapv:UnspecifiedMatching +GARD:16790 X-linked non-syndromic sensorineural deafness type DFN skos:exactMatch Orphanet:90625 semapv:UnspecifiedMatching +GARD:16790 X-linked non-syndromic sensorineural deafness type DFN skos:narrowMatch OMIM:300030 semapv:UnspecifiedMatching +GARD:16790 X-linked non-syndromic sensorineural deafness type DFN skos:narrowMatch OMIM:300066 semapv:UnspecifiedMatching +GARD:16790 X-linked non-syndromic sensorineural deafness type DFN skos:narrowMatch OMIM:300914 semapv:UnspecifiedMatching +GARD:16790 X-linked non-syndromic sensorineural deafness type DFN skos:narrowMatch OMIM:304500 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:600101 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:600652 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:600965 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:600994 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601316 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601317 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601369 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601412 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601543 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601544 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601868 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:602459 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:603622 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:603964 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:604717 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:605192 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:605583 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606012 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606282 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606346 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606451 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606705 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607017 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607197 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607453 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607683 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607841 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608224 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608372 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608394 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608641 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608645 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608652 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:609129 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:609965 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:612431 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:612642 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:612643 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:612644 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:613074 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:613558 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:614152 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:614211 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:614614 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:615629 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:615649 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:615654 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616044 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616340 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616357 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616697 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616707 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616968 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616969 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:617605 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:617606 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:617663 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618094 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618140 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618410 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618778 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618787 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618915 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:619081 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:619086 semapv:UnspecifiedMatching +GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:619274 semapv:UnspecifiedMatching +GARD:16792 Mitochondrial non-syndromic sensorineural deafness skos:exactMatch Orphanet:90641 semapv:UnspecifiedMatching +GARD:16792 Mitochondrial non-syndromic sensorineural deafness skos:narrowMatch OMIM:221745 semapv:UnspecifiedMatching +GARD:16792 Mitochondrial non-syndromic sensorineural deafness skos:narrowMatch OMIM:304400 semapv:UnspecifiedMatching +GARD:16792 Mitochondrial non-syndromic sensorineural deafness skos:narrowMatch OMIM:500008 semapv:UnspecifiedMatching +GARD:16792 Mitochondrial non-syndromic sensorineural deafness skos:narrowMatch OMIM:580000 semapv:UnspecifiedMatching +GARD:16793 Hypothyroidism due to TSH receptor mutations skos:exactMatch Orphanet:90673 semapv:UnspecifiedMatching +GARD:16793 Hypothyroidism due to TSH receptor mutations skos:narrowMatch OMIM:275200 semapv:UnspecifiedMatching +GARD:16794 46,XY disorder of sex development due to isolated 17,20-lyase deficiency skos:exactMatch Orphanet:90796 semapv:UnspecifiedMatching +GARD:16794 46,XY disorder of sex development due to isolated 17,20-lyase deficiency skos:narrowMatch OMIM:202110 semapv:UnspecifiedMatching +GARD:16795 Cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch Orphanet:91130 semapv:UnspecifiedMatching +GARD:16795 Cardiomyopathy-hypotonia-lactic acidosis syndrome skos:narrowMatch OMIM:610773 semapv:UnspecifiedMatching +GARD:16796 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch Orphanet:91135 semapv:UnspecifiedMatching +GARD:16796 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:narrowMatch OMIM:610842 semapv:UnspecifiedMatching +GARD:16797 Isolated cryptophthalmia skos:exactMatch Orphanet:91396 semapv:UnspecifiedMatching +GARD:16797 Isolated cryptophthalmia skos:narrowMatch OMIM:123570 semapv:UnspecifiedMatching +GARD:16798 Congenital ptosis skos:exactMatch Orphanet:91411 semapv:UnspecifiedMatching +GARD:16798 Congenital ptosis skos:narrowMatch OMIM:178300 semapv:UnspecifiedMatching +GARD:16798 Congenital ptosis skos:narrowMatch OMIM:300245 semapv:UnspecifiedMatching +GARD:16798 Congenital ptosis skos:narrowMatch OMIM:616219 semapv:UnspecifiedMatching +GARD:16799 Isolated congenital alacrima skos:exactMatch Orphanet:91416 semapv:UnspecifiedMatching +GARD:16799 Isolated congenital alacrima skos:narrowMatch OMIM:103420 semapv:UnspecifiedMatching +GARD:16799 Isolated congenital alacrima skos:narrowMatch OMIM:601549 semapv:UnspecifiedMatching +GARD:1680 Symbrachydactyly of hands and feet skos:exactMatch Orphanet:1570 semapv:UnspecifiedMatching +GARD:16800 Isolated congenital sclerocornea skos:exactMatch Orphanet:91490 semapv:UnspecifiedMatching +GARD:16800 Isolated congenital sclerocornea skos:narrowMatch OMIM:181700 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115650 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115660 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115665 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115700 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115800 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115900 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116100 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116200 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116300 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116400 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116600 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116700 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116800 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:212500 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:302200 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601202 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601547 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601885 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:604219 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:604307 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605387 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605728 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605749 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:607304 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:609376 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:609741 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610019 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610202 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610425 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610623 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:611391 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:611544 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:611597 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:614422 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:614691 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615188 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615274 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615277 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616279 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616509 semapv:UnspecifiedMatching +GARD:16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616851 semapv:UnspecifiedMatching +GARD:16802 Macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch Orphanet:91494 semapv:UnspecifiedMatching +GARD:16802 Macular coloboma-cleft palate-hallux valgus syndrome skos:narrowMatch OMIM:216800 semapv:UnspecifiedMatching +GARD:16803 Persistent hyperplastic primary vitreous skos:exactMatch Orphanet:91495 semapv:UnspecifiedMatching +GARD:16803 Persistent hyperplastic primary vitreous skos:narrowMatch OMIM:221900 semapv:UnspecifiedMatching +GARD:16803 Persistent hyperplastic primary vitreous skos:narrowMatch OMIM:611308 semapv:UnspecifiedMatching +GARD:16804 Renal agenesis, unilateral skos:exactMatch Orphanet:93100 semapv:UnspecifiedMatching +GARD:16804 Renal agenesis, unilateral skos:narrowMatch OMIM:617805 semapv:UnspecifiedMatching +GARD:16805 Hypocalcemic vitamin D-resistant rickets skos:exactMatch Orphanet:93160 semapv:UnspecifiedMatching +GARD:16805 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:277440 semapv:UnspecifiedMatching +GARD:16805 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:600785 semapv:UnspecifiedMatching +GARD:16805 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:619073 semapv:UnspecifiedMatching +GARD:16806 Fragile X-associated tremor/ataxia syndrome skos:exactMatch Orphanet:93256 semapv:UnspecifiedMatching +GARD:16806 Fragile X-associated tremor/ataxia syndrome skos:narrowMatch OMIM:300623 semapv:UnspecifiedMatching +GARD:16807 Pfeiffer syndrome type 1 skos:exactMatch Orphanet:93258 semapv:UnspecifiedMatching +GARD:16807 Pfeiffer syndrome type 1 skos:narrowMatch OMIM:101600 semapv:UnspecifiedMatching +GARD:16808 Pfeiffer syndrome type 2 skos:exactMatch Orphanet:93259 semapv:UnspecifiedMatching +GARD:16808 Pfeiffer syndrome type 2 skos:narrowMatch OMIM:101600 semapv:UnspecifiedMatching +GARD:16809 Pfeiffer syndrome type 3 skos:exactMatch Orphanet:93260 semapv:UnspecifiedMatching +GARD:16809 Pfeiffer syndrome type 3 skos:narrowMatch OMIM:101600 semapv:UnspecifiedMatching +GARD:16810 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch Orphanet:93262 semapv:UnspecifiedMatching +GARD:16810 Crouzon syndrome-acanthosis nigricans syndrome skos:narrowMatch OMIM:612247 semapv:UnspecifiedMatching +GARD:16811 Cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch Orphanet:93267 semapv:UnspecifiedMatching +GARD:16811 Cloverleaf skull-multiple congenital anomalies syndrome skos:narrowMatch OMIM:607161 semapv:UnspecifiedMatching +GARD:16812 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch Orphanet:93279 semapv:UnspecifiedMatching +GARD:16812 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:narrowMatch OMIM:604864 semapv:UnspecifiedMatching +GARD:16813 Spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch Orphanet:93282 semapv:UnspecifiedMatching +GARD:16813 Spondyloepimetaphyseal dysplasia, PAPSS2 type skos:narrowMatch OMIM:612847 semapv:UnspecifiedMatching +GARD:16814 Spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch Orphanet:93283 semapv:UnspecifiedMatching +GARD:16814 Spondyloepiphyseal dysplasia, Kimberley type skos:narrowMatch OMIM:608361 semapv:UnspecifiedMatching +GARD:16815 Hypochondrogenesis skos:exactMatch Orphanet:93297 semapv:UnspecifiedMatching +GARD:16815 Hypochondrogenesis skos:narrowMatch OMIM:200610 semapv:UnspecifiedMatching +GARD:16816 Brachyolmia, Maroteaux type skos:exactMatch Orphanet:93302 semapv:UnspecifiedMatching +GARD:16816 Brachyolmia, Maroteaux type skos:narrowMatch OMIM:613678 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:exactMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:narrowMatch OMIM:174200 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:narrowMatch OMIM:263450 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:narrowMatch OMIM:602085 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:narrowMatch OMIM:607324 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:narrowMatch OMIM:608562 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:narrowMatch OMIM:615226 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:narrowMatch OMIM:618219 semapv:UnspecifiedMatching +GARD:16817 Postaxial polydactyly type A skos:narrowMatch OMIM:618498 semapv:UnspecifiedMatching +GARD:16818 Postaxial polydactyly type B skos:exactMatch Orphanet:93335 semapv:UnspecifiedMatching +GARD:16818 Postaxial polydactyly type B skos:narrowMatch OMIM:174200 semapv:UnspecifiedMatching +GARD:16819 Spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch Orphanet:93351 semapv:UnspecifiedMatching +GARD:16819 Spondyloepimetaphyseal dysplasia, Irapa type skos:narrowMatch OMIM:271650 semapv:UnspecifiedMatching +GARD:16820 Genochondromatosis type 2 skos:exactMatch Orphanet:93398 semapv:UnspecifiedMatching +GARD:16820 Genochondromatosis type 2 skos:narrowMatch OMIM:137360 semapv:UnspecifiedMatching +GARD:16821 Brachydactyly-syndactyly, Zhao type skos:exactMatch Orphanet:93409 semapv:UnspecifiedMatching +GARD:16821 Brachydactyly-syndactyly, Zhao type skos:narrowMatch OMIM:610713 semapv:UnspecifiedMatching +GARD:16822 Ciliopathies with major skeletal involvement skos:exactMatch Orphanet:93426 semapv:UnspecifiedMatching +GARD:16822 Ciliopathies with major skeletal involvement skos:narrowMatch OMIM:617405 semapv:UnspecifiedMatching +GARD:16823 Atypical hemolytic uremic syndrome with anti-factor H antibodies skos:exactMatch Orphanet:93581 semapv:UnspecifiedMatching +GARD:16823 Atypical hemolytic uremic syndrome with anti-factor H antibodies skos:narrowMatch OMIM:235400 semapv:UnspecifiedMatching +GARD:16824 Late-onset nephronophthisis skos:exactMatch Orphanet:93589 semapv:UnspecifiedMatching +GARD:16824 Late-onset nephronophthisis skos:narrowMatch OMIM:604387 semapv:UnspecifiedMatching +GARD:16824 Late-onset nephronophthisis skos:narrowMatch OMIM:613159 semapv:UnspecifiedMatching +GARD:16824 Late-onset nephronophthisis skos:narrowMatch OMIM:617271 semapv:UnspecifiedMatching +GARD:16825 Infantile nephronophthisis skos:exactMatch Orphanet:93591 semapv:UnspecifiedMatching +GARD:16825 Infantile nephronophthisis skos:narrowMatch OMIM:602088 semapv:UnspecifiedMatching +GARD:16825 Infantile nephronophthisis skos:narrowMatch OMIM:615382 semapv:UnspecifiedMatching +GARD:16826 Autosomal recessive proximal renal tubular acidosis skos:exactMatch Orphanet:93607 semapv:UnspecifiedMatching +GARD:16826 Autosomal recessive proximal renal tubular acidosis skos:narrowMatch OMIM:604278 semapv:UnspecifiedMatching +GARD:16827 Cystinuria type A skos:exactMatch Orphanet:93612 semapv:UnspecifiedMatching +GARD:16827 Cystinuria type A skos:narrowMatch OMIM:220100 semapv:UnspecifiedMatching +GARD:16828 Cystinuria type B skos:exactMatch Orphanet:93613 semapv:UnspecifiedMatching +GARD:16828 Cystinuria type B skos:narrowMatch OMIM:220100 semapv:UnspecifiedMatching +GARD:16829 Hemoglobin H disease skos:exactMatch Orphanet:93616 semapv:UnspecifiedMatching +GARD:16829 Hemoglobin H disease skos:narrowMatch OMIM:613978 semapv:UnspecifiedMatching +GARD:16830 Lobar holoprosencephaly skos:exactMatch Orphanet:93924 semapv:UnspecifiedMatching +GARD:16830 Lobar holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +GARD:16830 Lobar holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +GARD:16830 Lobar holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +GARD:16831 Alobar holoprosencephaly skos:exactMatch Orphanet:93925 semapv:UnspecifiedMatching +GARD:16831 Alobar holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +GARD:16831 Alobar holoprosencephaly skos:narrowMatch OMIM:301043 semapv:UnspecifiedMatching +GARD:16831 Alobar holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +GARD:16831 Alobar holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +GARD:16832 Midline interhemispheric variant of holoprosencephaly skos:exactMatch Orphanet:93926 semapv:UnspecifiedMatching +GARD:16832 Midline interhemispheric variant of holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +GARD:16832 Midline interhemispheric variant of holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +GARD:16832 Midline interhemispheric variant of holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +GARD:16833 Laryngotracheoesophageal cleft type 3 skos:exactMatch Orphanet:93940 semapv:UnspecifiedMatching +GARD:16833 Laryngotracheoesophageal cleft type 3 skos:narrowMatch OMIM:215800 semapv:UnspecifiedMatching +GARD:16834 X-linked intellectual disability, Hedera type skos:exactMatch Orphanet:93952 semapv:UnspecifiedMatching +GARD:16834 X-linked intellectual disability, Hedera type skos:narrowMatch OMIM:300423 semapv:UnspecifiedMatching +GARD:16835 Anotia skos:exactMatch Orphanet:93976 semapv:UnspecifiedMatching +GARD:16835 Anotia skos:narrowMatch OMIM:600674 semapv:UnspecifiedMatching +GARD:16836 Cerebellar ataxia, Cayman type skos:exactMatch Orphanet:94122 semapv:UnspecifiedMatching +GARD:16836 Cerebellar ataxia, Cayman type skos:narrowMatch OMIM:601238 semapv:UnspecifiedMatching +GARD:16837 Anonychia congenita totalis skos:exactMatch Orphanet:94150 semapv:UnspecifiedMatching +GARD:16837 Anonychia congenita totalis skos:narrowMatch OMIM:206800 semapv:UnspecifiedMatching +GARD:16838 Lissencephaly due to LIS1 mutation skos:exactMatch Orphanet:95232 semapv:UnspecifiedMatching +GARD:16838 Lissencephaly due to LIS1 mutation skos:narrowMatch OMIM:607432 semapv:UnspecifiedMatching +GARD:16839 Familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch Orphanet:95700 semapv:UnspecifiedMatching +GARD:16839 Familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:narrowMatch OMIM:202150 semapv:UnspecifiedMatching +GARD:1684 Deafness-ear malformation-facial palsy syndrome skos:exactMatch Orphanet:3232 semapv:UnspecifiedMatching +GARD:1684 Deafness-ear malformation-facial palsy syndrome skos:narrowMatch OMIM:124490 semapv:UnspecifiedMatching +GARD:16840 Non-syndromic posterior hypospadias skos:exactMatch Orphanet:95706 semapv:UnspecifiedMatching +GARD:16840 Non-syndromic posterior hypospadias skos:narrowMatch OMIM:146450 semapv:UnspecifiedMatching +GARD:16840 Non-syndromic posterior hypospadias skos:narrowMatch OMIM:300633 semapv:UnspecifiedMatching +GARD:16840 Non-syndromic posterior hypospadias skos:narrowMatch OMIM:300758 semapv:UnspecifiedMatching +GARD:16840 Non-syndromic posterior hypospadias skos:narrowMatch OMIM:300856 semapv:UnspecifiedMatching +GARD:16841 Thyroid ectopia skos:exactMatch Orphanet:95712 semapv:UnspecifiedMatching +GARD:16841 Thyroid ectopia skos:narrowMatch OMIM:218700 semapv:UnspecifiedMatching +GARD:16841 Thyroid ectopia skos:narrowMatch OMIM:225250 semapv:UnspecifiedMatching +GARD:16842 Athyreosis skos:exactMatch Orphanet:95713 semapv:UnspecifiedMatching +GARD:16842 Athyreosis skos:narrowMatch OMIM:218700 semapv:UnspecifiedMatching +GARD:16842 Athyreosis skos:narrowMatch OMIM:225250 semapv:UnspecifiedMatching +GARD:16843 Familial thyroid dyshormonogenesis skos:exactMatch Orphanet:95716 semapv:UnspecifiedMatching +GARD:16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274400 semapv:UnspecifiedMatching +GARD:16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274500 semapv:UnspecifiedMatching +GARD:16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274700 semapv:UnspecifiedMatching +GARD:16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274800 semapv:UnspecifiedMatching +GARD:16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274900 semapv:UnspecifiedMatching +GARD:16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:607200 semapv:UnspecifiedMatching +GARD:16844 Thyroid hemiagenesis skos:exactMatch Orphanet:95719 semapv:UnspecifiedMatching +GARD:16844 Thyroid hemiagenesis skos:narrowMatch OMIM:218700 semapv:UnspecifiedMatching +GARD:16845 Distal monosomy 6p skos:exactMatch Orphanet:96125 semapv:UnspecifiedMatching +GARD:16845 Distal monosomy 6p skos:narrowMatch OMIM:612582 semapv:UnspecifiedMatching +GARD:16846 Kleefstra syndrome due to 9q34 microdeletion skos:exactMatch Orphanet:96147 semapv:UnspecifiedMatching +GARD:16846 Kleefstra syndrome due to 9q34 microdeletion skos:narrowMatch OMIM:610253 semapv:UnspecifiedMatching +GARD:16847 Monosomy 13q34 skos:exactMatch Orphanet:96168 semapv:UnspecifiedMatching +GARD:16847 Monosomy 13q34 skos:narrowMatch OMIM:619148 semapv:UnspecifiedMatching +GARD:16848 Temple syndrome due to maternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96184 semapv:UnspecifiedMatching +GARD:16848 Temple syndrome due to maternal uniparental disomy of chromosome 14 skos:narrowMatch OMIM:616222 semapv:UnspecifiedMatching +GARD:16849 Maternal uniparental disomy of chromosome 20 skos:exactMatch Orphanet:96186 semapv:UnspecifiedMatching +GARD:16849 Maternal uniparental disomy of chromosome 20 skos:narrowMatch OMIM:617352 semapv:UnspecifiedMatching +GARD:1685 DOORS syndrome skos:exactMatch Orphanet:79500 semapv:UnspecifiedMatching +GARD:1685 DOORS syndrome skos:narrowMatch OMIM:220500 semapv:UnspecifiedMatching +GARD:16850 Somatotropic adenoma skos:exactMatch Orphanet:96256 semapv:UnspecifiedMatching +GARD:16850 Somatotropic adenoma skos:narrowMatch OMIM:102200 semapv:UnspecifiedMatching +GARD:16851 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch Orphanet:96265 semapv:UnspecifiedMatching +GARD:16851 Leydig cell hypoplasia due to complete LH resistance skos:narrowMatch OMIM:238320 semapv:UnspecifiedMatching +GARD:16852 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch Orphanet:96266 semapv:UnspecifiedMatching +GARD:16852 Leydig cell hypoplasia due to partial LH resistance skos:narrowMatch OMIM:238320 semapv:UnspecifiedMatching +GARD:16853 Familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch Orphanet:97290 semapv:UnspecifiedMatching +GARD:16853 Familial papillary thyroid carcinoma with renal papillary neoplasia skos:narrowMatch OMIM:605642 semapv:UnspecifiedMatching +GARD:16854 Renal tubular dysgenesis of genetic origin skos:exactMatch Orphanet:97369 semapv:UnspecifiedMatching +GARD:16854 Renal tubular dysgenesis of genetic origin skos:narrowMatch OMIM:267430 semapv:UnspecifiedMatching +GARD:16855 Lymphoproliferative disease associated with primary immune disease skos:exactMatch Orphanet:98291 semapv:UnspecifiedMatching +GARD:16855 Lymphoproliferative disease associated with primary immune disease skos:narrowMatch OMIM:619126 semapv:UnspecifiedMatching +GARD:16856 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:exactMatch Orphanet:98434 semapv:UnspecifiedMatching +GARD:16856 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:narrowMatch OMIM:277450 semapv:UnspecifiedMatching +GARD:16856 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:narrowMatch OMIM:607473 semapv:UnspecifiedMatching +GARD:16857 Developmental defect of the eye skos:exactMatch Orphanet:98553 semapv:UnspecifiedMatching +GARD:16857 Developmental defect of the eye skos:narrowMatch OMIM:120200 semapv:UnspecifiedMatching +GARD:16857 Developmental defect of the eye skos:narrowMatch OMIM:216820 semapv:UnspecifiedMatching +GARD:16858 Syndromic orbital border hypoplasia skos:exactMatch Orphanet:98606 semapv:UnspecifiedMatching +GARD:16858 Syndromic orbital border hypoplasia skos:narrowMatch OMIM:165600 semapv:UnspecifiedMatching +GARD:16859 Rare isolated myopia skos:exactMatch Orphanet:98619 semapv:UnspecifiedMatching +GARD:16859 Rare isolated myopia skos:narrowMatch OMIM:608908 semapv:UnspecifiedMatching +GARD:16859 Rare isolated myopia skos:narrowMatch OMIM:614292 semapv:UnspecifiedMatching +GARD:16859 Rare isolated myopia skos:narrowMatch OMIM:615431 semapv:UnspecifiedMatching +GARD:1686 Deafness-craniofacial syndrome skos:exactMatch Orphanet:3241 semapv:UnspecifiedMatching +GARD:1686 Deafness-craniofacial syndrome skos:narrowMatch OMIM:125230 semapv:UnspecifiedMatching +GARD:16860 Autosomal recessive isolated optic atrophy skos:exactMatch Orphanet:98676 semapv:UnspecifiedMatching +GARD:16860 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:258500 semapv:UnspecifiedMatching +GARD:16860 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:616289 semapv:UnspecifiedMatching +GARD:16860 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:616732 semapv:UnspecifiedMatching +GARD:16860 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:617302 semapv:UnspecifiedMatching +GARD:16861 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:exactMatch Orphanet:98754 semapv:UnspecifiedMatching +GARD:16861 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:narrowMatch OMIM:176270 semapv:UnspecifiedMatching +GARD:16862 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 skos:exactMatch Orphanet:98791 semapv:UnspecifiedMatching +GARD:16862 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 skos:narrowMatch OMIM:141750 semapv:UnspecifiedMatching +GARD:16863 Acute undifferentiated leukemia skos:exactMatch Orphanet:98835 semapv:UnspecifiedMatching +GARD:16863 Acute undifferentiated leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:16864 Desquamative interstitial pneumonia skos:exactMatch Orphanet:98852 semapv:UnspecifiedMatching +GARD:16864 Desquamative interstitial pneumonia skos:narrowMatch OMIM:263000 semapv:UnspecifiedMatching +GARD:16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98853 semapv:UnspecifiedMatching +GARD:16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:181350 semapv:UnspecifiedMatching +GARD:16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612998 semapv:UnspecifiedMatching +GARD:16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612999 semapv:UnspecifiedMatching +GARD:16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:614302 semapv:UnspecifiedMatching +GARD:16866 Autosomal recessive Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98855 semapv:UnspecifiedMatching +GARD:16866 Autosomal recessive Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:616516 semapv:UnspecifiedMatching +GARD:16867 Southeast Asian ovalocytosis skos:exactMatch Orphanet:98868 semapv:UnspecifiedMatching +GARD:16867 Southeast Asian ovalocytosis skos:narrowMatch OMIM:166900 semapv:UnspecifiedMatching +GARD:16868 Bleeding diathesis due to integrin alpha2-beta1 deficiency skos:exactMatch Orphanet:98886 semapv:UnspecifiedMatching +GARD:16868 Bleeding diathesis due to integrin alpha2-beta1 deficiency skos:narrowMatch OMIM:614200 semapv:UnspecifiedMatching +GARD:16869 Congenital myopathy with excess of thin filaments skos:exactMatch Orphanet:98904 semapv:UnspecifiedMatching +GARD:16869 Congenital myopathy with excess of thin filaments skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +GARD:1687 Deafness-enamel hypoplasia-nail defects syndrome skos:exactMatch Orphanet:3220 semapv:UnspecifiedMatching +GARD:1687 Deafness-enamel hypoplasia-nail defects syndrome skos:narrowMatch OMIM:234580 semapv:UnspecifiedMatching +GARD:1687 Deafness-enamel hypoplasia-nail defects syndrome skos:narrowMatch OMIM:616617 semapv:UnspecifiedMatching +GARD:16870 Desminopathy skos:exactMatch Orphanet:98909 semapv:UnspecifiedMatching +GARD:16870 Desminopathy skos:narrowMatch OMIM:601419 semapv:UnspecifiedMatching +GARD:16871 Distal myotilinopathy skos:exactMatch Orphanet:98911 semapv:UnspecifiedMatching +GARD:16871 Distal myotilinopathy skos:narrowMatch OMIM:609200 semapv:UnspecifiedMatching +GARD:16872 Synaptic congenital myasthenic syndromes skos:exactMatch Orphanet:98915 semapv:UnspecifiedMatching +GARD:16872 Synaptic congenital myasthenic syndromes skos:narrowMatch OMIM:603034 semapv:UnspecifiedMatching +GARD:16873 Acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch Orphanet:98916 semapv:UnspecifiedMatching +GARD:16873 Acute inflammatory demyelinating polyradiculoneuropathy skos:narrowMatch OMIM:139393 semapv:UnspecifiedMatching +GARD:16874 Huntington disease-like 2 skos:exactMatch Orphanet:98934 semapv:UnspecifiedMatching +GARD:16874 Huntington disease-like 2 skos:narrowMatch OMIM:606438 semapv:UnspecifiedMatching +GARD:16875 Coloboma of choroid and retina skos:exactMatch Orphanet:98942 semapv:UnspecifiedMatching +GARD:16875 Coloboma of choroid and retina skos:narrowMatch OMIM:120200 semapv:UnspecifiedMatching +GARD:16876 Complete cryptophthalmia skos:exactMatch Orphanet:98949 semapv:UnspecifiedMatching +GARD:16876 Complete cryptophthalmia skos:narrowMatch OMIM:123570 semapv:UnspecifiedMatching +GARD:16877 Lisch epithelial corneal dystrophy skos:exactMatch Orphanet:98955 semapv:UnspecifiedMatching +GARD:16877 Lisch epithelial corneal dystrophy skos:narrowMatch OMIM:300778 semapv:UnspecifiedMatching +GARD:16878 Subepithelial mucinous corneal dystrophy skos:exactMatch Orphanet:98959 semapv:UnspecifiedMatching +GARD:16878 Subepithelial mucinous corneal dystrophy skos:narrowMatch OMIM:612867 semapv:UnspecifiedMatching +GARD:16879 Fleck corneal dystrophy skos:exactMatch Orphanet:98970 semapv:UnspecifiedMatching +GARD:16879 Fleck corneal dystrophy skos:narrowMatch OMIM:121850 semapv:UnspecifiedMatching +GARD:1688 Deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch Orphanet:3218 semapv:UnspecifiedMatching +GARD:1688 Deafness-epiphyseal dysplasia-short stature syndrome skos:narrowMatch OMIM:601351 semapv:UnspecifiedMatching +GARD:16880 Posterior amorphous corneal dystrophy skos:exactMatch Orphanet:98971 semapv:UnspecifiedMatching +GARD:16880 Posterior amorphous corneal dystrophy skos:narrowMatch OMIM:612868 semapv:UnspecifiedMatching +GARD:16881 Central cloudy dystrophy of François skos:exactMatch Orphanet:98972 semapv:UnspecifiedMatching +GARD:16881 Central cloudy dystrophy of François skos:narrowMatch OMIM:217600 semapv:UnspecifiedMatching +GARD:16882 Posterior polymorphous corneal dystrophy skos:exactMatch Orphanet:98973 semapv:UnspecifiedMatching +GARD:16882 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:122000 semapv:UnspecifiedMatching +GARD:16882 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:609140 semapv:UnspecifiedMatching +GARD:16882 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:609141 semapv:UnspecifiedMatching +GARD:16882 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:618031 semapv:UnspecifiedMatching +GARD:16883 Juvenile glaucoma skos:exactMatch Orphanet:98977 semapv:UnspecifiedMatching +GARD:16883 Juvenile glaucoma skos:narrowMatch OMIM:137750 semapv:UnspecifiedMatching +GARD:16883 Juvenile glaucoma skos:narrowMatch OMIM:231300 semapv:UnspecifiedMatching +GARD:16883 Juvenile glaucoma skos:narrowMatch OMIM:608695 semapv:UnspecifiedMatching +GARD:16883 Juvenile glaucoma skos:narrowMatch OMIM:608696 semapv:UnspecifiedMatching +GARD:16883 Juvenile glaucoma skos:narrowMatch OMIM:610535 semapv:UnspecifiedMatching +GARD:16883 Juvenile glaucoma skos:narrowMatch OMIM:611274 semapv:UnspecifiedMatching +GARD:16884 Pulverulent cataract skos:exactMatch Orphanet:98984 semapv:UnspecifiedMatching +GARD:16884 Pulverulent cataract skos:narrowMatch OMIM:116300 semapv:UnspecifiedMatching +GARD:16885 Early-onset sutural cataract skos:exactMatch Orphanet:98985 semapv:UnspecifiedMatching +GARD:16885 Early-onset sutural cataract skos:narrowMatch OMIM:116100 semapv:UnspecifiedMatching +GARD:16885 Early-onset sutural cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +GARD:16885 Early-onset sutural cataract skos:narrowMatch OMIM:605728 semapv:UnspecifiedMatching +GARD:16886 Coralliform cataract skos:exactMatch Orphanet:98990 semapv:UnspecifiedMatching +GARD:16886 Coralliform cataract skos:narrowMatch OMIM:115800 semapv:UnspecifiedMatching +GARD:16887 Early-onset nuclear cataract skos:exactMatch Orphanet:98991 semapv:UnspecifiedMatching +GARD:16887 Early-onset nuclear cataract skos:narrowMatch OMIM:116400 semapv:UnspecifiedMatching +GARD:16887 Early-onset nuclear cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +GARD:16887 Early-onset nuclear cataract skos:narrowMatch OMIM:607304 semapv:UnspecifiedMatching +GARD:16887 Early-onset nuclear cataract skos:narrowMatch OMIM:609376 semapv:UnspecifiedMatching +GARD:16887 Early-onset nuclear cataract skos:narrowMatch OMIM:610019 semapv:UnspecifiedMatching +GARD:16887 Early-onset nuclear cataract skos:narrowMatch OMIM:611391 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:exactMatch Orphanet:98992 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:115660 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:115800 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:116300 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:116400 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:601202 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:605728 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:607304 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:609376 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:610019 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +GARD:16888 Early-onset partial cataract skos:narrowMatch OMIM:614422 semapv:UnspecifiedMatching +GARD:16889 Early-onset posterior polar cataract skos:exactMatch Orphanet:98993 semapv:UnspecifiedMatching +GARD:16889 Early-onset posterior polar cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +GARD:16889 Early-onset posterior polar cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +GARD:16890 Butterfly-shaped pigment dystrophy skos:exactMatch Orphanet:99001 semapv:UnspecifiedMatching +GARD:16890 Butterfly-shaped pigment dystrophy skos:narrowMatch OMIM:169150 semapv:UnspecifiedMatching +GARD:16890 Butterfly-shaped pigment dystrophy skos:narrowMatch OMIM:608970 semapv:UnspecifiedMatching +GARD:16890 Butterfly-shaped pigment dystrophy skos:narrowMatch OMIM:610125 semapv:UnspecifiedMatching +GARD:16891 Reticular dystrophy of the retinal pigment epithelium skos:exactMatch Orphanet:99002 semapv:UnspecifiedMatching +GARD:16891 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:179840 semapv:UnspecifiedMatching +GARD:16891 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:267800 semapv:UnspecifiedMatching +GARD:16891 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:617175 semapv:UnspecifiedMatching +GARD:16892 Discrete fixed membranous subaortic stenosis skos:exactMatch Orphanet:99051 semapv:UnspecifiedMatching +GARD:16892 Discrete fixed membranous subaortic stenosis skos:narrowMatch OMIM:271950 semapv:UnspecifiedMatching +GARD:16893 Complete atrioventricular septal defect with ventricular hypoplasia skos:exactMatch Orphanet:99067 semapv:UnspecifiedMatching +GARD:16893 Complete atrioventricular septal defect with ventricular hypoplasia skos:narrowMatch OMIM:615779 semapv:UnspecifiedMatching +GARD:16894 Complete atrioventricular septal defect-tetralogy of Fallot skos:exactMatch Orphanet:99068 semapv:UnspecifiedMatching +GARD:16894 Complete atrioventricular septal defect-tetralogy of Fallot skos:narrowMatch OMIM:615779 semapv:UnspecifiedMatching +GARD:16895 Interventricular septum aneurysm skos:exactMatch Orphanet:99092 semapv:UnspecifiedMatching +GARD:16895 Interventricular septum aneurysm skos:narrowMatch OMIM:105805 semapv:UnspecifiedMatching +GARD:16896 Congenital total pulmonary venous return anomaly skos:exactMatch Orphanet:99125 semapv:UnspecifiedMatching +GARD:16896 Congenital total pulmonary venous return anomaly skos:narrowMatch OMIM:106700 semapv:UnspecifiedMatching +GARD:16897 6-phosphogluconate dehydrogenase deficiency skos:exactMatch Orphanet:99135 semapv:UnspecifiedMatching +GARD:16897 6-phosphogluconate dehydrogenase deficiency skos:narrowMatch OMIM:619199 semapv:UnspecifiedMatching +GARD:16898 Lymphedema-posterior choanal atresia syndrome skos:exactMatch Orphanet:99141 semapv:UnspecifiedMatching +GARD:16898 Lymphedema-posterior choanal atresia syndrome skos:narrowMatch OMIM:613611 semapv:UnspecifiedMatching +GARD:16899 Isolated distichiasis skos:exactMatch Orphanet:99177 semapv:UnspecifiedMatching +GARD:16899 Isolated distichiasis skos:narrowMatch OMIM:126300 semapv:UnspecifiedMatching +GARD:169 Schneckenbecken dysplasia skos:exactMatch Orphanet:3144 semapv:UnspecifiedMatching +GARD:169 Schneckenbecken dysplasia skos:narrowMatch OMIM:269250 semapv:UnspecifiedMatching +GARD:16900 Kandori fleck retina skos:exactMatch Orphanet:99179 semapv:UnspecifiedMatching +GARD:16900 Kandori fleck retina skos:narrowMatch OMIM:228990 semapv:UnspecifiedMatching +GARD:16901 Familial medullary thyroid carcinoma skos:exactMatch Orphanet:99361 semapv:UnspecifiedMatching +GARD:16901 Familial medullary thyroid carcinoma skos:narrowMatch OMIM:155240 semapv:UnspecifiedMatching +GARD:16902 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:99646 semapv:UnspecifiedMatching +GARD:16902 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:614875 semapv:UnspecifiedMatching +GARD:16903 Fried's tooth and nail syndrome skos:exactMatch Orphanet:99672 semapv:UnspecifiedMatching +GARD:16903 Fried's tooth and nail syndrome skos:narrowMatch OMIM:602401 semapv:UnspecifiedMatching +GARD:16904 Myotonia fluctuans skos:exactMatch Orphanet:99734 semapv:UnspecifiedMatching +GARD:16904 Myotonia fluctuans skos:narrowMatch OMIM:608390 semapv:UnspecifiedMatching +GARD:16905 Myotonia permanens skos:exactMatch Orphanet:99735 semapv:UnspecifiedMatching +GARD:16905 Myotonia permanens skos:narrowMatch OMIM:608390 semapv:UnspecifiedMatching +GARD:16906 Acetazolamide-responsive myotonia skos:exactMatch Orphanet:99736 semapv:UnspecifiedMatching +GARD:16906 Acetazolamide-responsive myotonia skos:narrowMatch OMIM:608390 semapv:UnspecifiedMatching +GARD:16907 Cleft velum skos:exactMatch Orphanet:99772 semapv:UnspecifiedMatching +GARD:16907 Cleft velum skos:narrowMatch OMIM:119570 semapv:UnspecifiedMatching +GARD:16908 Oligodontia skos:exactMatch Orphanet:99798 semapv:UnspecifiedMatching +GARD:16908 Oligodontia skos:narrowMatch OMIM:106600 semapv:UnspecifiedMatching +GARD:16908 Oligodontia skos:narrowMatch OMIM:150400 semapv:UnspecifiedMatching +GARD:16908 Oligodontia skos:narrowMatch OMIM:313500 semapv:UnspecifiedMatching +GARD:16908 Oligodontia skos:narrowMatch OMIM:604625 semapv:UnspecifiedMatching +GARD:16908 Oligodontia skos:narrowMatch OMIM:610926 semapv:UnspecifiedMatching +GARD:16908 Oligodontia skos:narrowMatch OMIM:616724 semapv:UnspecifiedMatching +GARD:16908 Oligodontia skos:narrowMatch OMIM:617073 semapv:UnspecifiedMatching +GARD:16909 Haddad syndrome skos:exactMatch Orphanet:99803 semapv:UnspecifiedMatching +GARD:16909 Haddad syndrome skos:narrowMatch OMIM:209880 semapv:UnspecifiedMatching +GARD:1691 Deafness-hypogonadism syndrome skos:exactMatch Orphanet:90646 semapv:UnspecifiedMatching +GARD:1691 Deafness-hypogonadism syndrome skos:narrowMatch OMIM:304350 semapv:UnspecifiedMatching +GARD:16910 Oculootodental syndrome skos:exactMatch Orphanet:99806 semapv:UnspecifiedMatching +GARD:16910 Oculootodental syndrome skos:narrowMatch OMIM:166750 semapv:UnspecifiedMatching +GARD:16911 PEHO-like syndrome skos:exactMatch Orphanet:99807 semapv:UnspecifiedMatching +GARD:16911 PEHO-like syndrome skos:narrowMatch OMIM:260565 semapv:UnspecifiedMatching +GARD:16911 PEHO-like syndrome skos:narrowMatch OMIM:617507 semapv:UnspecifiedMatching +GARD:16912 Turcot syndrome with polyposis skos:exactMatch Orphanet:99818 semapv:UnspecifiedMatching +GARD:16912 Turcot syndrome with polyposis skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +GARD:16913 Familial gestational hyperthyroidism skos:exactMatch Orphanet:99819 semapv:UnspecifiedMatching +GARD:16913 Familial gestational hyperthyroidism skos:narrowMatch OMIM:603373 semapv:UnspecifiedMatching +GARD:16914 Resistance to thyrotropin-releasing hormone syndrome skos:exactMatch Orphanet:99832 semapv:UnspecifiedMatching +GARD:16914 Resistance to thyrotropin-releasing hormone syndrome skos:narrowMatch OMIM:618573 semapv:UnspecifiedMatching +GARD:16915 Leukocyte adhesion deficiency type III skos:exactMatch Orphanet:99844 semapv:UnspecifiedMatching +GARD:16915 Leukocyte adhesion deficiency type III skos:narrowMatch OMIM:612840 semapv:UnspecifiedMatching +GARD:16916 Genetic recurrent myoglobinuria skos:exactMatch Orphanet:99845 semapv:UnspecifiedMatching +GARD:16916 Genetic recurrent myoglobinuria skos:narrowMatch OMIM:268200 semapv:UnspecifiedMatching +GARD:16916 Genetic recurrent myoglobinuria skos:narrowMatch OMIM:550500 semapv:UnspecifiedMatching +GARD:16917 Autosomal dominant myoglobinuria skos:exactMatch Orphanet:99846 semapv:UnspecifiedMatching +GARD:16917 Autosomal dominant myoglobinuria skos:narrowMatch OMIM:160010 semapv:UnspecifiedMatching +GARD:16918 Ovarioleukodystrophy skos:exactMatch Orphanet:99853 semapv:UnspecifiedMatching +GARD:16918 Ovarioleukodystrophy skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +GARD:16918 Ovarioleukodystrophy skos:narrowMatch OMIM:615889 semapv:UnspecifiedMatching +GARD:16919 Cree leukoencephalopathy skos:exactMatch Orphanet:99854 semapv:UnspecifiedMatching +GARD:16919 Cree leukoencephalopathy skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +GARD:16920 Precursor B-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99860 semapv:UnspecifiedMatching +GARD:16920 Precursor B-cell acute lymphoblastic leukemia skos:narrowMatch OMIM:615545 semapv:UnspecifiedMatching +GARD:16921 Spermatocytic seminoma skos:exactMatch Orphanet:99865 semapv:UnspecifiedMatching +GARD:16921 Spermatocytic seminoma skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +GARD:16922 Thymoma skos:exactMatch Orphanet:99867 semapv:UnspecifiedMatching +GARD:16922 Thymoma skos:narrowMatch OMIM:274230 semapv:UnspecifiedMatching +GARD:16923 Familial isolated hyperparathyroidism skos:exactMatch Orphanet:99879 semapv:UnspecifiedMatching +GARD:16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:145000 semapv:UnspecifiedMatching +GARD:16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:600166 semapv:UnspecifiedMatching +GARD:16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:610071 semapv:UnspecifiedMatching +GARD:16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:617343 semapv:UnspecifiedMatching +GARD:16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:618883 semapv:UnspecifiedMatching +GARD:16924 Pigeon-breeder lung disease skos:exactMatch Orphanet:99908 semapv:UnspecifiedMatching +GARD:16924 Pigeon-breeder lung disease skos:narrowMatch OMIM:145300 semapv:UnspecifiedMatching +GARD:16925 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 skos:exactMatch Orphanet:99947 semapv:UnspecifiedMatching +GARD:16925 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 skos:narrowMatch OMIM:609260 semapv:UnspecifiedMatching +GARD:16926 Atypical teratoid rhabdoid tumor skos:exactMatch Orphanet:99966 semapv:UnspecifiedMatching +GARD:16926 Atypical teratoid rhabdoid tumor skos:narrowMatch OMIM:609322 semapv:UnspecifiedMatching +GARD:16927 Adenocarcinoma of the esophagus skos:exactMatch Orphanet:99976 semapv:UnspecifiedMatching +GARD:16927 Adenocarcinoma of the esophagus skos:narrowMatch OMIM:614266 semapv:UnspecifiedMatching +GARD:16928 Complex regional pain syndrome type 1 skos:exactMatch Orphanet:99995 semapv:UnspecifiedMatching +GARD:16928 Complex regional pain syndrome type 1 skos:narrowMatch OMIM:604335 semapv:UnspecifiedMatching +GARD:16929 ABeta amyloidosis, Dutch type skos:exactMatch Orphanet:100006 semapv:UnspecifiedMatching +GARD:16929 ABeta amyloidosis, Dutch type skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +GARD:16930 ACys amyloidosis skos:exactMatch Orphanet:100008 semapv:UnspecifiedMatching +GARD:16930 ACys amyloidosis skos:narrowMatch OMIM:105150 semapv:UnspecifiedMatching +GARD:16931 Hypocalcified amelogenesis imperfecta skos:exactMatch Orphanet:100032 semapv:UnspecifiedMatching +GARD:16931 Hypocalcified amelogenesis imperfecta skos:narrowMatch OMIM:130900 semapv:UnspecifiedMatching +GARD:16931 Hypocalcified amelogenesis imperfecta skos:narrowMatch OMIM:616221 semapv:UnspecifiedMatching +GARD:16931 Hypocalcified amelogenesis imperfecta skos:narrowMatch OMIM:617607 semapv:UnspecifiedMatching +GARD:16932 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch Orphanet:100034 semapv:UnspecifiedMatching +GARD:16932 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:narrowMatch OMIM:104510 semapv:UnspecifiedMatching +GARD:16933 Hereditary angioedema type 1 skos:exactMatch Orphanet:100050 semapv:UnspecifiedMatching +GARD:16933 Hereditary angioedema type 1 skos:narrowMatch OMIM:106100 semapv:UnspecifiedMatching +GARD:16934 Hereditary angioedema type 2 skos:exactMatch Orphanet:100051 semapv:UnspecifiedMatching +GARD:16934 Hereditary angioedema type 2 skos:narrowMatch OMIM:106100 semapv:UnspecifiedMatching +GARD:16935 F12-related hereditary angioedema with normal C1Inh skos:exactMatch Orphanet:100054 semapv:UnspecifiedMatching +GARD:16935 F12-related hereditary angioedema with normal C1Inh skos:narrowMatch OMIM:610618 semapv:UnspecifiedMatching +GARD:16936 Renin-angiotensin-aldosterone system-blocker-induced angioedema skos:exactMatch Orphanet:100057 semapv:UnspecifiedMatching +GARD:16936 Renin-angiotensin-aldosterone system-blocker-induced angioedema skos:narrowMatch OMIM:300909 semapv:UnspecifiedMatching +GARD:16937 Porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:100924 semapv:UnspecifiedMatching +GARD:16937 Porphyria due to ALA dehydratase deficiency skos:narrowMatch OMIM:612740 semapv:UnspecifiedMatching +GARD:16938 Bathing suit ichthyosis skos:exactMatch Orphanet:100976 semapv:UnspecifiedMatching +GARD:16938 Bathing suit ichthyosis skos:narrowMatch OMIM:242300 semapv:UnspecifiedMatching +GARD:16939 Autosomal recessive spastic paraplegia type 21 skos:exactMatch Orphanet:101001 semapv:UnspecifiedMatching +GARD:16939 Autosomal recessive spastic paraplegia type 21 skos:narrowMatch OMIM:248900 semapv:UnspecifiedMatching +GARD:16940 Autosomal recessive spastic paraplegia type 27 skos:exactMatch Orphanet:101007 semapv:UnspecifiedMatching +GARD:16940 Autosomal recessive spastic paraplegia type 27 skos:narrowMatch OMIM:609041 semapv:UnspecifiedMatching +GARD:16941 Autosomal recessive spastic paraplegia type 28 skos:exactMatch Orphanet:101008 semapv:UnspecifiedMatching +GARD:16941 Autosomal recessive spastic paraplegia type 28 skos:narrowMatch OMIM:609340 semapv:UnspecifiedMatching +GARD:16942 Autosomal spastic paraplegia type 30 skos:exactMatch Orphanet:101010 semapv:UnspecifiedMatching +GARD:16942 Autosomal spastic paraplegia type 30 skos:narrowMatch OMIM:610357 semapv:UnspecifiedMatching +GARD:16943 Congenital stromal corneal dystrophy skos:exactMatch Orphanet:101068 semapv:UnspecifiedMatching +GARD:16943 Congenital stromal corneal dystrophy skos:narrowMatch OMIM:610048 semapv:UnspecifiedMatching +GARD:16944 Familial isolated congenital asplenia skos:exactMatch Orphanet:101351 semapv:UnspecifiedMatching +GARD:16944 Familial isolated congenital asplenia skos:narrowMatch OMIM:271400 semapv:UnspecifiedMatching +GARD:16945 Congenital sodium diarrhea skos:exactMatch Orphanet:103908 semapv:UnspecifiedMatching +GARD:16945 Congenital sodium diarrhea skos:narrowMatch OMIM:270420 semapv:UnspecifiedMatching +GARD:16945 Congenital sodium diarrhea skos:narrowMatch OMIM:616868 semapv:UnspecifiedMatching +GARD:16946 Tropical pancreatitis skos:exactMatch Orphanet:103918 semapv:UnspecifiedMatching +GARD:16946 Tropical pancreatitis skos:narrowMatch OMIM:608189 semapv:UnspecifiedMatching +GARD:16947 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch Orphanet:137631 semapv:UnspecifiedMatching +GARD:16947 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:narrowMatch OMIM:611926 semapv:UnspecifiedMatching +GARD:16948 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch Orphanet:137639 semapv:UnspecifiedMatching +GARD:16948 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +GARD:16949 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch Orphanet:137681 semapv:UnspecifiedMatching +GARD:16949 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:narrowMatch OMIM:609060 semapv:UnspecifiedMatching +GARD:1695 Lowe-Kohn-Cohen syndrome skos:exactMatch Orphanet:2408 semapv:UnspecifiedMatching +GARD:16950 Hypotonia with lactic acidemia and hyperammonemia skos:exactMatch Orphanet:137908 semapv:UnspecifiedMatching +GARD:16950 Hypotonia with lactic acidemia and hyperammonemia skos:narrowMatch OMIM:611719 semapv:UnspecifiedMatching +GARD:16951 Choanal atresia skos:exactMatch Orphanet:137914 semapv:UnspecifiedMatching +GARD:16951 Choanal atresia skos:narrowMatch OMIM:608911 semapv:UnspecifiedMatching +GARD:16952 17q11.2 microduplication syndrome skos:exactMatch Orphanet:139474 semapv:UnspecifiedMatching +GARD:16952 17q11.2 microduplication syndrome skos:narrowMatch OMIM:618874 semapv:UnspecifiedMatching +GARD:16953 Distal hereditary motor neuropathy type 1 skos:exactMatch Orphanet:139518 semapv:UnspecifiedMatching +GARD:16953 Distal hereditary motor neuropathy type 1 skos:narrowMatch OMIM:182960 semapv:UnspecifiedMatching +GARD:16954 Distal hereditary motor neuropathy type 2 skos:exactMatch Orphanet:139525 semapv:UnspecifiedMatching +GARD:16954 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:158590 semapv:UnspecifiedMatching +GARD:16954 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:608634 semapv:UnspecifiedMatching +GARD:16954 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:613376 semapv:UnspecifiedMatching +GARD:16954 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:615575 semapv:UnspecifiedMatching +GARD:16955 Distal hereditary motor neuropathy type 5 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching +GARD:16955 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:600794 semapv:UnspecifiedMatching +GARD:16955 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:614751 semapv:UnspecifiedMatching +GARD:16955 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:619112 semapv:UnspecifiedMatching +GARD:16956 Distal spinal muscular atrophy type 3 skos:exactMatch Orphanet:139547 semapv:UnspecifiedMatching +GARD:16956 Distal spinal muscular atrophy type 3 skos:narrowMatch OMIM:607088 semapv:UnspecifiedMatching +GARD:16957 X-linked distal spinal muscular atrophy type 3 skos:exactMatch Orphanet:139557 semapv:UnspecifiedMatching +GARD:16957 X-linked distal spinal muscular atrophy type 3 skos:narrowMatch OMIM:300489 semapv:UnspecifiedMatching +GARD:16958 Hereditary sensory and autonomic neuropathy type 1B skos:exactMatch Orphanet:139564 semapv:UnspecifiedMatching +GARD:16958 Hereditary sensory and autonomic neuropathy type 1B skos:narrowMatch OMIM:608088 semapv:UnspecifiedMatching +GARD:16959 Mutilating hereditary sensory neuropathy with spastic paraplegia skos:exactMatch Orphanet:139578 semapv:UnspecifiedMatching +GARD:16959 Mutilating hereditary sensory neuropathy with spastic paraplegia skos:narrowMatch OMIM:256840 semapv:UnspecifiedMatching +GARD:1696 Isolated growth hormone deficiency type II skos:exactMatch Orphanet:231679 semapv:UnspecifiedMatching +GARD:1696 Isolated growth hormone deficiency type II skos:narrowMatch OMIM:173100 semapv:UnspecifiedMatching +GARD:16960 Distal hereditary motor neuropathy type 7 skos:exactMatch Orphanet:139589 semapv:UnspecifiedMatching +GARD:16960 Distal hereditary motor neuropathy type 7 skos:narrowMatch OMIM:158580 semapv:UnspecifiedMatching +GARD:16960 Distal hereditary motor neuropathy type 7 skos:narrowMatch OMIM:607641 semapv:UnspecifiedMatching +GARD:16961 Primary intraosseous venous malformation skos:exactMatch Orphanet:140436 semapv:UnspecifiedMatching +GARD:16961 Primary intraosseous venous malformation skos:narrowMatch OMIM:606893 semapv:UnspecifiedMatching +GARD:16962 Autosomal dominant slowed nerve conduction velocity skos:exactMatch Orphanet:140481 semapv:UnspecifiedMatching +GARD:16962 Autosomal dominant slowed nerve conduction velocity skos:narrowMatch OMIM:608236 semapv:UnspecifiedMatching +GARD:16963 Brachydactyly type B2 skos:exactMatch Orphanet:140908 semapv:UnspecifiedMatching +GARD:16963 Brachydactyly type B2 skos:narrowMatch OMIM:611377 semapv:UnspecifiedMatching +GARD:16964 Short stature due to primary acid-labile subunit deficiency skos:exactMatch Orphanet:140941 semapv:UnspecifiedMatching +GARD:16964 Short stature due to primary acid-labile subunit deficiency skos:narrowMatch OMIM:615961 semapv:UnspecifiedMatching +GARD:16965 Autosomal dominant macrothrombocytopenia skos:exactMatch Orphanet:140957 semapv:UnspecifiedMatching +GARD:16965 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:187800 semapv:UnspecifiedMatching +GARD:16965 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:613112 semapv:UnspecifiedMatching +GARD:16965 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:615193 semapv:UnspecifiedMatching +GARD:16965 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:619271 semapv:UnspecifiedMatching +GARD:16966 Bilateral microtia-deafness-cleft palate syndrome skos:exactMatch Orphanet:140963 semapv:UnspecifiedMatching +GARD:16966 Bilateral microtia-deafness-cleft palate syndrome skos:narrowMatch OMIM:612290 semapv:UnspecifiedMatching +GARD:16967 Palmoplantar keratoderma, Nagashima type skos:exactMatch Orphanet:140966 semapv:UnspecifiedMatching +GARD:16967 Palmoplantar keratoderma, Nagashima type skos:narrowMatch OMIM:615598 semapv:UnspecifiedMatching +GARD:16968 Second branchial cleft anomaly skos:exactMatch Orphanet:141022 semapv:UnspecifiedMatching +GARD:16968 Second branchial cleft anomaly skos:narrowMatch OMIM:113600 semapv:UnspecifiedMatching +GARD:16969 External auditory canal aplasia/hypoplasia skos:exactMatch Orphanet:141074 semapv:UnspecifiedMatching +GARD:16969 External auditory canal aplasia/hypoplasia skos:narrowMatch OMIM:108760 semapv:UnspecifiedMatching +GARD:16969 External auditory canal aplasia/hypoplasia skos:narrowMatch OMIM:607842 semapv:UnspecifiedMatching +GARD:1697 Deafness, autosomal recessive 1a skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:1697 Deafness, autosomal recessive 1a skos:exactMatch OMIM:220290 semapv:UnspecifiedMatching +GARD:16970 Nasal dermoid cyst skos:exactMatch Orphanet:141103 semapv:UnspecifiedMatching +GARD:16970 Nasal dermoid cyst skos:narrowMatch OMIM:600679 semapv:UnspecifiedMatching +GARD:16971 Hemifacial hyperplasia skos:exactMatch Orphanet:141145 semapv:UnspecifiedMatching +GARD:16971 Hemifacial hyperplasia skos:narrowMatch OMIM:133900 semapv:UnspecifiedMatching +GARD:16972 Isolated congenital hypoglossia/aglossia skos:exactMatch Orphanet:141152 semapv:UnspecifiedMatching +GARD:16972 Isolated congenital hypoglossia/aglossia skos:narrowMatch OMIM:612776 semapv:UnspecifiedMatching +GARD:16973 Paramedian nasal cleft skos:exactMatch Orphanet:141242 semapv:UnspecifiedMatching +GARD:16973 Paramedian nasal cleft skos:narrowMatch OMIM:614687 semapv:UnspecifiedMatching +GARD:16974 Tessier number 4 facial cleft skos:exactMatch Orphanet:141258 semapv:UnspecifiedMatching +GARD:16974 Tessier number 4 facial cleft skos:narrowMatch OMIM:600251 semapv:UnspecifiedMatching +GARD:16975 Tessier number 7 facial cleft skos:exactMatch Orphanet:141276 semapv:UnspecifiedMatching +GARD:16975 Tessier number 7 facial cleft skos:narrowMatch OMIM:613545 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:119530 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:129400 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:225060 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:600757 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:602966 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:608371 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:608874 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:610361 semapv:UnspecifiedMatching +GARD:16976 Cleft lip and alveolus skos:narrowMatch OMIM:612858 semapv:UnspecifiedMatching +GARD:16977 Hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch Orphanet:157215 semapv:UnspecifiedMatching +GARD:16977 Hereditary hypophosphatemic rickets with hypercalciuria skos:narrowMatch OMIM:241530 semapv:UnspecifiedMatching +GARD:16978 Congenital or early infantile CACH syndrome skos:exactMatch Orphanet:157713 semapv:UnspecifiedMatching +GARD:16978 Congenital or early infantile CACH syndrome skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +GARD:16979 Late infantile CACH syndrome skos:exactMatch Orphanet:157716 semapv:UnspecifiedMatching +GARD:16979 Late infantile CACH syndrome skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +GARD:1698 Deafness-oligodontia syndrome skos:exactMatch Orphanet:3230 semapv:UnspecifiedMatching +GARD:1698 Deafness-oligodontia syndrome skos:narrowMatch OMIM:221740 semapv:UnspecifiedMatching +GARD:16980 Juvenile or adult CACH syndrome skos:exactMatch Orphanet:157719 semapv:UnspecifiedMatching +GARD:16980 Juvenile or adult CACH syndrome skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +GARD:16981 Hereditary mixed polyposis syndrome skos:exactMatch Orphanet:157794 semapv:UnspecifiedMatching +GARD:16981 Hereditary mixed polyposis syndrome skos:narrowMatch OMIM:601228 semapv:UnspecifiedMatching +GARD:16981 Hereditary mixed polyposis syndrome skos:narrowMatch OMIM:610069 semapv:UnspecifiedMatching +GARD:16982 Serrated polyposis syndrome skos:exactMatch Orphanet:157798 semapv:UnspecifiedMatching +GARD:16982 Serrated polyposis syndrome skos:narrowMatch OMIM:617108 semapv:UnspecifiedMatching +GARD:16983 Cold-induced sweating syndrome skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching +GARD:16983 Cold-induced sweating syndrome skos:narrowMatch OMIM:272430 semapv:UnspecifiedMatching +GARD:16983 Cold-induced sweating syndrome skos:narrowMatch OMIM:610313 semapv:UnspecifiedMatching +GARD:16983 Cold-induced sweating syndrome skos:narrowMatch OMIM:617055 semapv:UnspecifiedMatching +GARD:16984 Craniorhiny skos:exactMatch Orphanet:157832 semapv:UnspecifiedMatching +GARD:16984 Craniorhiny skos:narrowMatch OMIM:123050 semapv:UnspecifiedMatching +GARD:16985 Huntington disease-like 1 skos:exactMatch Orphanet:157941 semapv:UnspecifiedMatching +GARD:16985 Huntington disease-like 1 skos:narrowMatch OMIM:603218 semapv:UnspecifiedMatching +GARD:16986 Huntington disease-like 3 skos:exactMatch Orphanet:157946 semapv:UnspecifiedMatching +GARD:16986 Huntington disease-like 3 skos:narrowMatch OMIM:604802 semapv:UnspecifiedMatching +GARD:16987 ANE syndrome skos:exactMatch Orphanet:157954 semapv:UnspecifiedMatching +GARD:16987 ANE syndrome skos:narrowMatch OMIM:612079 semapv:UnspecifiedMatching +GARD:16988 Oculoauricular syndrome, Schorderet type skos:exactMatch Orphanet:157962 semapv:UnspecifiedMatching +GARD:16988 Oculoauricular syndrome, Schorderet type skos:narrowMatch OMIM:612109 semapv:UnspecifiedMatching +GARD:16989 Hereditary progressive mucinous histiocytosis skos:exactMatch Orphanet:158025 semapv:UnspecifiedMatching +GARD:16989 Hereditary progressive mucinous histiocytosis skos:narrowMatch OMIM:142630 semapv:UnspecifiedMatching +GARD:16990 Epidermolysis bullosa simplex with circinate migratory erythema skos:exactMatch Orphanet:158681 semapv:UnspecifiedMatching +GARD:16990 Epidermolysis bullosa simplex with circinate migratory erythema skos:narrowMatch OMIM:609352 semapv:UnspecifiedMatching +GARD:16991 Epidermolysis bullosa simplex with pyloric atresia skos:exactMatch Orphanet:158684 semapv:UnspecifiedMatching +GARD:16991 Epidermolysis bullosa simplex with pyloric atresia skos:narrowMatch OMIM:612138 semapv:UnspecifiedMatching +GARD:16992 Hb Bart's hydrops fetalis skos:exactMatch Orphanet:163596 semapv:UnspecifiedMatching +GARD:16992 Hb Bart's hydrops fetalis skos:narrowMatch OMIM:236750 semapv:UnspecifiedMatching +GARD:16993 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome skos:exactMatch Orphanet:163649 semapv:UnspecifiedMatching +GARD:16993 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome skos:narrowMatch OMIM:602611 semapv:UnspecifiedMatching +GARD:16993 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome skos:narrowMatch OMIM:618618 semapv:UnspecifiedMatching +GARD:16994 Spondyloepiphyseal dysplasia, Reardon type skos:exactMatch Orphanet:163662 semapv:UnspecifiedMatching +GARD:16994 Spondyloepiphyseal dysplasia, Reardon type skos:narrowMatch OMIM:600561 semapv:UnspecifiedMatching +GARD:16995 Spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch Orphanet:163665 semapv:UnspecifiedMatching +GARD:16995 Spondyloepiphyseal dysplasia tarda, Kohn type skos:narrowMatch OMIM:271620 semapv:UnspecifiedMatching +GARD:16996 Spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch Orphanet:163668 semapv:UnspecifiedMatching +GARD:16996 Spondyloepiphyseal dysplasia, MacDermot type skos:narrowMatch OMIM:184000 semapv:UnspecifiedMatching +GARD:16997 CNTNAP2-related developmental and epileptic encephalopathy skos:exactMatch Orphanet:163681 semapv:UnspecifiedMatching +GARD:16997 CNTNAP2-related developmental and epileptic encephalopathy skos:narrowMatch OMIM:610042 semapv:UnspecifiedMatching +GARD:16998 Hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 semapv:UnspecifiedMatching +GARD:16998 Hypotonia-cystinuria syndrome skos:narrowMatch OMIM:606407 semapv:UnspecifiedMatching +GARD:16999 2p21 microdeletion syndrome skos:exactMatch Orphanet:163693 semapv:UnspecifiedMatching +GARD:16999 2p21 microdeletion syndrome skos:narrowMatch OMIM:606407 semapv:UnspecifiedMatching +GARD:17 Arachnoid cyst skos:exactMatch Orphanet:2356 semapv:UnspecifiedMatching +GARD:17 Arachnoid cyst skos:narrowMatch OMIM:182990 semapv:UnspecifiedMatching +GARD:17 Arachnoid cyst skos:narrowMatch OMIM:207790 semapv:UnspecifiedMatching +GARD:17000 Action myoclonus-renal failure syndrome skos:exactMatch Orphanet:163696 semapv:UnspecifiedMatching +GARD:17000 Action myoclonus-renal failure syndrome skos:narrowMatch OMIM:254900 semapv:UnspecifiedMatching +GARD:17001 Benign familial mesial temporal lobe epilepsy skos:exactMatch Orphanet:163717 semapv:UnspecifiedMatching +GARD:17001 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:611630 semapv:UnspecifiedMatching +GARD:17001 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:614417 semapv:UnspecifiedMatching +GARD:17001 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:615697 semapv:UnspecifiedMatching +GARD:17002 Rolandic epilepsy-speech dyspraxia syndrome skos:exactMatch Orphanet:163721 semapv:UnspecifiedMatching +GARD:17002 Rolandic epilepsy-speech dyspraxia syndrome skos:narrowMatch OMIM:245570 semapv:UnspecifiedMatching +GARD:17002 Rolandic epilepsy-speech dyspraxia syndrome skos:narrowMatch OMIM:300643 semapv:UnspecifiedMatching +GARD:17003 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch Orphanet:163727 semapv:UnspecifiedMatching +GARD:17003 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:narrowMatch OMIM:608105 semapv:UnspecifiedMatching +GARD:17004 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease skos:exactMatch Orphanet:163746 semapv:UnspecifiedMatching +GARD:17004 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease skos:narrowMatch OMIM:609136 semapv:UnspecifiedMatching +GARD:17005 X-linked intellectual disability, Nascimento type skos:exactMatch Orphanet:163956 semapv:UnspecifiedMatching +GARD:17005 X-linked intellectual disability, Nascimento type skos:narrowMatch OMIM:300860 semapv:UnspecifiedMatching +GARD:17006 X-linked cerebral-cerebellar-coloboma syndrome skos:exactMatch Orphanet:163961 semapv:UnspecifiedMatching +GARD:17006 X-linked cerebral-cerebellar-coloboma syndrome skos:narrowMatch OMIM:300864 semapv:UnspecifiedMatching +GARD:17007 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch Orphanet:163966 semapv:UnspecifiedMatching +GARD:17007 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:narrowMatch OMIM:300863 semapv:UnspecifiedMatching +GARD:17008 X-linked intellectual disability, Van Esch type skos:exactMatch Orphanet:163976 semapv:UnspecifiedMatching +GARD:17008 X-linked intellectual disability, Van Esch type skos:narrowMatch OMIM:301030 semapv:UnspecifiedMatching +GARD:17009 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch Orphanet:163979 semapv:UnspecifiedMatching +GARD:17009 X-linked intellectual disability-craniofacioskeletal syndrome skos:narrowMatch OMIM:300712 semapv:UnspecifiedMatching +GARD:17010 Hyperekplexia-epilepsy syndrome skos:exactMatch Orphanet:163985 semapv:UnspecifiedMatching +GARD:17010 Hyperekplexia-epilepsy syndrome skos:narrowMatch OMIM:300607 semapv:UnspecifiedMatching +GARD:17011 Familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch Orphanet:165805 semapv:UnspecifiedMatching +GARD:17011 Familial mesial temporal lobe epilepsy with febrile seizures skos:narrowMatch OMIM:614418 semapv:UnspecifiedMatching +GARD:17012 Multiple epiphyseal dysplasia, Beighton type skos:exactMatch Orphanet:166011 semapv:UnspecifiedMatching +GARD:17012 Multiple epiphyseal dysplasia, Beighton type skos:narrowMatch OMIM:132450 semapv:UnspecifiedMatching +GARD:17013 Multiple epiphyseal dysplasia, Lowry type skos:exactMatch Orphanet:166016 semapv:UnspecifiedMatching +GARD:17013 Multiple epiphyseal dysplasia, Lowry type skos:narrowMatch OMIM:601560 semapv:UnspecifiedMatching +GARD:17014 Multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch Orphanet:166024 semapv:UnspecifiedMatching +GARD:17014 Multiple epiphyseal dysplasia, Al-Gazali type skos:narrowMatch OMIM:607131 semapv:UnspecifiedMatching +GARD:17015 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch Orphanet:166029 semapv:UnspecifiedMatching +GARD:17015 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:narrowMatch OMIM:609324 semapv:UnspecifiedMatching +GARD:17016 Multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch Orphanet:166032 semapv:UnspecifiedMatching +GARD:17016 Multiple epiphyseal dysplasia, with miniepiphyses skos:narrowMatch OMIM:609325 semapv:UnspecifiedMatching +GARD:17017 Brachydactyly-short stature-retinitis pigmentosa syndrome skos:exactMatch Orphanet:166035 semapv:UnspecifiedMatching +GARD:17017 Brachydactyly-short stature-retinitis pigmentosa syndrome skos:narrowMatch OMIM:250410 semapv:UnspecifiedMatching +GARD:17018 Metaphyseal chondrodysplasia, Kaitila type skos:exactMatch Orphanet:166038 semapv:UnspecifiedMatching +GARD:17018 Metaphyseal chondrodysplasia, Kaitila type skos:narrowMatch OMIM:250230 semapv:UnspecifiedMatching +GARD:17019 Von Willebrand disease type 1 skos:exactMatch Orphanet:166078 semapv:UnspecifiedMatching +GARD:17019 Von Willebrand disease type 1 skos:narrowMatch OMIM:193400 semapv:UnspecifiedMatching +GARD:17020 Von Willebrand disease type 2 skos:exactMatch Orphanet:166081 semapv:UnspecifiedMatching +GARD:17020 Von Willebrand disease type 2 skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +GARD:17021 Von Willebrand disease type 2A skos:exactMatch Orphanet:166084 semapv:UnspecifiedMatching +GARD:17021 Von Willebrand disease type 2A skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +GARD:17022 Von Willebrand disease type 2B skos:exactMatch Orphanet:166087 semapv:UnspecifiedMatching +GARD:17022 Von Willebrand disease type 2B skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +GARD:17023 Von Willebrand disease type 2M skos:exactMatch Orphanet:166090 semapv:UnspecifiedMatching +GARD:17023 Von Willebrand disease type 2M skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +GARD:17024 Von Willebrand disease type 2N skos:exactMatch Orphanet:166093 semapv:UnspecifiedMatching +GARD:17024 Von Willebrand disease type 2N skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +GARD:17025 Von Willebrand disease type 3 skos:exactMatch Orphanet:166096 semapv:UnspecifiedMatching +GARD:17025 Von Willebrand disease type 3 skos:narrowMatch OMIM:277480 semapv:UnspecifiedMatching +GARD:17026 FASTKD2-related infantile mitochondrial encephalomyopathy skos:exactMatch Orphanet:166105 semapv:UnspecifiedMatching +GARD:17026 FASTKD2-related infantile mitochondrial encephalomyopathy skos:narrowMatch OMIM:618855 semapv:UnspecifiedMatching +GARD:17027 Isolated osteopoikilosis skos:exactMatch Orphanet:166119 semapv:UnspecifiedMatching +GARD:17027 Isolated osteopoikilosis skos:narrowMatch OMIM:166700 semapv:UnspecifiedMatching +GARD:17028 Hot water reflex epilepsy skos:exactMatch Orphanet:166412 semapv:UnspecifiedMatching +GARD:17028 Hot water reflex epilepsy skos:narrowMatch OMIM:613339 semapv:UnspecifiedMatching +GARD:17028 Hot water reflex epilepsy skos:narrowMatch OMIM:613340 semapv:UnspecifiedMatching +GARD:17029 Reading seizures skos:exactMatch Orphanet:166433 semapv:UnspecifiedMatching +GARD:17029 Reading seizures skos:narrowMatch OMIM:132300 semapv:UnspecifiedMatching +GARD:17030 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch Orphanet:168451 semapv:UnspecifiedMatching +GARD:17030 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:narrowMatch OMIM:601668 semapv:UnspecifiedMatching +GARD:17031 Congenital neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168486 semapv:UnspecifiedMatching +GARD:17031 Congenital neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +GARD:17032 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +GARD:17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204500 semapv:UnspecifiedMatching +GARD:17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +GARD:17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256731 semapv:UnspecifiedMatching +GARD:17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:600143 semapv:UnspecifiedMatching +GARD:17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:601780 semapv:UnspecifiedMatching +GARD:17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +GARD:17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610951 semapv:UnspecifiedMatching +GARD:17033 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch Orphanet:168558 semapv:UnspecifiedMatching +GARD:17033 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:narrowMatch OMIM:613743 semapv:UnspecifiedMatching +GARD:17034 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch Orphanet:168563 semapv:UnspecifiedMatching +GARD:17034 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:narrowMatch OMIM:607080 semapv:UnspecifiedMatching +GARD:17035 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch Orphanet:168566 semapv:UnspecifiedMatching +GARD:17035 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:narrowMatch OMIM:610505 semapv:UnspecifiedMatching +GARD:17036 Hereditary cryohydrocytosis with reduced stomatin skos:exactMatch Orphanet:168577 semapv:UnspecifiedMatching +GARD:17036 Hereditary cryohydrocytosis with reduced stomatin skos:narrowMatch OMIM:608885 semapv:UnspecifiedMatching +GARD:17037 Hereditary North American Indian childhood cirrhosis skos:exactMatch Orphanet:168583 semapv:UnspecifiedMatching +GARD:17037 Hereditary North American Indian childhood cirrhosis skos:narrowMatch OMIM:604901 semapv:UnspecifiedMatching +GARD:17038 Congenital enteropathy due to enteropeptidase deficiency skos:exactMatch Orphanet:168601 semapv:UnspecifiedMatching +GARD:17038 Congenital enteropathy due to enteropeptidase deficiency skos:narrowMatch OMIM:226200 semapv:UnspecifiedMatching +GARD:17039 Seborrhea-like dermatitis with psoriasiform elements skos:exactMatch Orphanet:168606 semapv:UnspecifiedMatching +GARD:17039 Seborrhea-like dermatitis with psoriasiform elements skos:narrowMatch OMIM:610227 semapv:UnspecifiedMatching +GARD:17040 Congenital deficiency in alpha-fetoprotein skos:exactMatch Orphanet:168612 semapv:UnspecifiedMatching +GARD:17040 Congenital deficiency in alpha-fetoprotein skos:narrowMatch OMIM:615969 semapv:UnspecifiedMatching +GARD:17041 Autosomal thrombocytopenia with normal platelets skos:exactMatch Orphanet:168629 semapv:UnspecifiedMatching +GARD:17041 Autosomal thrombocytopenia with normal platelets skos:narrowMatch OMIM:188000 semapv:UnspecifiedMatching +GARD:17041 Autosomal thrombocytopenia with normal platelets skos:narrowMatch OMIM:273900 semapv:UnspecifiedMatching +GARD:17041 Autosomal thrombocytopenia with normal platelets skos:narrowMatch OMIM:612004 semapv:UnspecifiedMatching +GARD:17042 Generalized basaloid follicular hamartoma syndrome skos:exactMatch Orphanet:168632 semapv:UnspecifiedMatching +GARD:17042 Generalized basaloid follicular hamartoma syndrome skos:narrowMatch OMIM:605827 semapv:UnspecifiedMatching +GARD:17043 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement skos:exactMatch Orphanet:168953 semapv:UnspecifiedMatching +GARD:17043 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement skos:narrowMatch OMIM:613523 semapv:UnspecifiedMatching +GARD:17044 CLAPO syndrome skos:exactMatch Orphanet:168984 semapv:UnspecifiedMatching +GARD:17044 CLAPO syndrome skos:narrowMatch OMIM:613089 semapv:UnspecifiedMatching +GARD:17045 Cernunnos-XLF deficiency skos:exactMatch Orphanet:169079 semapv:UnspecifiedMatching +GARD:17045 Cernunnos-XLF deficiency skos:narrowMatch OMIM:611291 semapv:UnspecifiedMatching +GARD:17046 Combined immunodeficiency due to CD3gamma deficiency skos:exactMatch Orphanet:169082 semapv:UnspecifiedMatching +GARD:17046 Combined immunodeficiency due to CD3gamma deficiency skos:narrowMatch OMIM:615607 semapv:UnspecifiedMatching +GARD:17047 Susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch Orphanet:169085 semapv:UnspecifiedMatching +GARD:17047 Susceptibility to respiratory infections associated with CD8alpha chain mutation skos:narrowMatch OMIM:608957 semapv:UnspecifiedMatching +GARD:17048 Combined immunodeficiency due to CRAC channel dysfunction skos:exactMatch Orphanet:169090 semapv:UnspecifiedMatching +GARD:17048 Combined immunodeficiency due to CRAC channel dysfunction skos:narrowMatch OMIM:612782 semapv:UnspecifiedMatching +GARD:17048 Combined immunodeficiency due to CRAC channel dysfunction skos:narrowMatch OMIM:612783 semapv:UnspecifiedMatching +GARD:17049 Immunodeficiency due to CD25 deficiency skos:exactMatch Orphanet:169100 semapv:UnspecifiedMatching +GARD:17049 Immunodeficiency due to CD25 deficiency skos:narrowMatch OMIM:606367 semapv:UnspecifiedMatching +GARD:1705 Deafness-vitiligo-achalasia syndrome skos:exactMatch Orphanet:3239 semapv:UnspecifiedMatching +GARD:1705 Deafness-vitiligo-achalasia syndrome skos:narrowMatch OMIM:221350 semapv:UnspecifiedMatching +GARD:17050 Immunodeficiency due to a late component of complement deficiency skos:exactMatch Orphanet:169150 semapv:UnspecifiedMatching +GARD:17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:609536 semapv:UnspecifiedMatching +GARD:17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:610102 semapv:UnspecifiedMatching +GARD:17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:612446 semapv:UnspecifiedMatching +GARD:17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613789 semapv:UnspecifiedMatching +GARD:17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613790 semapv:UnspecifiedMatching +GARD:17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613825 semapv:UnspecifiedMatching +GARD:17051 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:exactMatch Orphanet:169154 semapv:UnspecifiedMatching +GARD:17051 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:narrowMatch OMIM:608971 semapv:UnspecifiedMatching +GARD:17052 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:exactMatch Orphanet:169157 semapv:UnspecifiedMatching +GARD:17052 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:narrowMatch OMIM:608971 semapv:UnspecifiedMatching +GARD:17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:exactMatch Orphanet:169160 semapv:UnspecifiedMatching +GARD:17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:608971 semapv:UnspecifiedMatching +GARD:17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:610163 semapv:UnspecifiedMatching +GARD:17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:615615 semapv:UnspecifiedMatching +GARD:17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:615617 semapv:UnspecifiedMatching +GARD:17054 Primary CD59 deficiency skos:exactMatch Orphanet:169464 semapv:UnspecifiedMatching +GARD:17054 Primary CD59 deficiency skos:narrowMatch OMIM:612300 semapv:UnspecifiedMatching +GARD:17055 Recurrent Neisseria infections due to factor D deficiency skos:exactMatch Orphanet:169467 semapv:UnspecifiedMatching +GARD:17055 Recurrent Neisseria infections due to factor D deficiency skos:narrowMatch OMIM:613912 semapv:UnspecifiedMatching +GARD:17056 Severe hemophilia B skos:exactMatch Orphanet:169793 semapv:UnspecifiedMatching +GARD:17056 Severe hemophilia B skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +GARD:17057 Moderate hemophilia B skos:exactMatch Orphanet:169796 semapv:UnspecifiedMatching +GARD:17057 Moderate hemophilia B skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +GARD:17058 Mild hemophilia B skos:exactMatch Orphanet:169799 semapv:UnspecifiedMatching +GARD:17058 Mild hemophilia B skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +GARD:17059 Severe hemophilia A skos:exactMatch Orphanet:169802 semapv:UnspecifiedMatching +GARD:17059 Severe hemophilia A skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +GARD:17060 Moderate hemophilia A skos:exactMatch Orphanet:169805 semapv:UnspecifiedMatching +GARD:17060 Moderate hemophilia A skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +GARD:17061 Mild hemophilia A skos:exactMatch Orphanet:169808 semapv:UnspecifiedMatching +GARD:17061 Mild hemophilia A skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +GARD:17062 Muscle filaminopathy skos:exactMatch Orphanet:171445 semapv:UnspecifiedMatching +GARD:17062 Muscle filaminopathy skos:narrowMatch OMIM:609524 semapv:UnspecifiedMatching +GARD:17063 X-linked spastic paraplegia type 34 skos:exactMatch Orphanet:171607 semapv:UnspecifiedMatching +GARD:17063 X-linked spastic paraplegia type 34 skos:narrowMatch OMIM:300750 semapv:UnspecifiedMatching +GARD:17064 Autosomal dominant spastic paraplegia type 37 skos:exactMatch Orphanet:171612 semapv:UnspecifiedMatching +GARD:17064 Autosomal dominant spastic paraplegia type 37 skos:narrowMatch OMIM:611945 semapv:UnspecifiedMatching +GARD:17065 Autosomal dominant spastic paraplegia type 38 skos:exactMatch Orphanet:171617 semapv:UnspecifiedMatching +GARD:17065 Autosomal dominant spastic paraplegia type 38 skos:narrowMatch OMIM:612335 semapv:UnspecifiedMatching +GARD:17066 Lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:171680 semapv:UnspecifiedMatching +GARD:17066 Lissencephaly due to TUBA1A mutation skos:narrowMatch OMIM:611603 semapv:UnspecifiedMatching +GARD:17067 Metabolic myopathy due to lactate transporter defect skos:exactMatch Orphanet:171690 semapv:UnspecifiedMatching +GARD:17067 Metabolic myopathy due to lactate transporter defect skos:narrowMatch OMIM:245340 semapv:UnspecifiedMatching +GARD:17068 Short stature-delayed bone age due to thyroid hormone metabolism deficiency skos:exactMatch Orphanet:171706 semapv:UnspecifiedMatching +GARD:17068 Short stature-delayed bone age due to thyroid hormone metabolism deficiency skos:narrowMatch OMIM:609698 semapv:UnspecifiedMatching +GARD:17069 Cutis laxa-Marfanoid syndrome skos:exactMatch Orphanet:171719 semapv:UnspecifiedMatching +GARD:17069 Cutis laxa-Marfanoid syndrome skos:narrowMatch OMIM:614100 semapv:UnspecifiedMatching +GARD:17070 Blindness-scoliosis-arachnodactyly syndrome skos:exactMatch Orphanet:171844 semapv:UnspecifiedMatching +GARD:17070 Blindness-scoliosis-arachnodactyly syndrome skos:narrowMatch OMIM:612445 semapv:UnspecifiedMatching +GARD:17071 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome skos:exactMatch Orphanet:171848 semapv:UnspecifiedMatching +GARD:17071 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome skos:narrowMatch OMIM:612674 semapv:UnspecifiedMatching +GARD:17072 MEDNIK syndrome skos:exactMatch Orphanet:171851 semapv:UnspecifiedMatching +GARD:17072 MEDNIK syndrome skos:narrowMatch OMIM:609313 semapv:UnspecifiedMatching +GARD:17073 Autosomal dominant spastic paraplegia type 42 skos:exactMatch Orphanet:171863 semapv:UnspecifiedMatching +GARD:17073 Autosomal dominant spastic paraplegia type 42 skos:narrowMatch OMIM:612539 semapv:UnspecifiedMatching +GARD:17074 Prader-Willi syndrome due to translocation skos:exactMatch Orphanet:177907 semapv:UnspecifiedMatching +GARD:17074 Prader-Willi syndrome due to translocation skos:narrowMatch OMIM:176270 semapv:UnspecifiedMatching +GARD:17075 Prader-Willi syndrome due to imprinting mutation skos:exactMatch Orphanet:177910 semapv:UnspecifiedMatching +GARD:17075 Prader-Willi syndrome due to imprinting mutation skos:narrowMatch OMIM:176270 semapv:UnspecifiedMatching +GARD:17076 Bleeding disorder in hemophilia A carriers skos:exactMatch Orphanet:177926 semapv:UnspecifiedMatching +GARD:17076 Bleeding disorder in hemophilia A carriers skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +GARD:17077 Bleeding disorder in hemophilia B carriers skos:exactMatch Orphanet:177929 semapv:UnspecifiedMatching +GARD:17077 Bleeding disorder in hemophilia B carriers skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +GARD:17078 Moderate multiminicore disease with hand involvement skos:exactMatch Orphanet:178145 semapv:UnspecifiedMatching +GARD:17078 Moderate multiminicore disease with hand involvement skos:narrowMatch OMIM:117000 semapv:UnspecifiedMatching +GARD:17079 Reticulate acropigmentation of Kitamura skos:exactMatch Orphanet:178307 semapv:UnspecifiedMatching +GARD:17079 Reticulate acropigmentation of Kitamura skos:narrowMatch OMIM:615537 semapv:UnspecifiedMatching +GARD:1708 Deafness, autosomal dominant 23 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:1708 Deafness, autosomal dominant 23 skos:exactMatch OMIM:605192 semapv:UnspecifiedMatching +GARD:17080 Distal myopathy with anterior tibial onset skos:exactMatch Orphanet:178400 semapv:UnspecifiedMatching +GARD:17080 Distal myopathy with anterior tibial onset skos:narrowMatch OMIM:606768 semapv:UnspecifiedMatching +GARD:17081 X-linked myopathy with postural muscle atrophy skos:exactMatch Orphanet:178461 semapv:UnspecifiedMatching +GARD:17081 X-linked myopathy with postural muscle atrophy skos:narrowMatch OMIM:300696 semapv:UnspecifiedMatching +GARD:17082 Brain calcification, Rajab type skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching +GARD:17082 Brain calcification, Rajab type skos:narrowMatch OMIM:613658 semapv:UnspecifiedMatching +GARD:17082 Brain calcification, Rajab type skos:narrowMatch OMIM:619013 semapv:UnspecifiedMatching +GARD:17083 Obesity due to leptin receptor gene deficiency skos:exactMatch Orphanet:179494 semapv:UnspecifiedMatching +GARD:17083 Obesity due to leptin receptor gene deficiency skos:narrowMatch OMIM:614963 semapv:UnspecifiedMatching +GARD:17084 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:exactMatch Orphanet:183663 semapv:UnspecifiedMatching +GARD:17084 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:narrowMatch OMIM:308230 semapv:UnspecifiedMatching +GARD:17084 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:narrowMatch OMIM:606843 semapv:UnspecifiedMatching +GARD:17085 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:exactMatch Orphanet:183666 semapv:UnspecifiedMatching +GARD:17085 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:605258 semapv:UnspecifiedMatching +GARD:17085 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:608106 semapv:UnspecifiedMatching +GARD:17085 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:608184 semapv:UnspecifiedMatching +GARD:17086 Recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch Orphanet:183675 semapv:UnspecifiedMatching +GARD:17086 Recurrent infections associated with rare immunoglobulin isotypes deficiency skos:narrowMatch OMIM:614102 semapv:UnspecifiedMatching +GARD:17087 Neutrophil immunodeficiency syndrome skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching +GARD:17087 Neutrophil immunodeficiency syndrome skos:narrowMatch OMIM:608203 semapv:UnspecifiedMatching +GARD:17087 Neutrophil immunodeficiency syndrome skos:narrowMatch OMIM:618987 semapv:UnspecifiedMatching +GARD:17088 Familial isolated hypoparathyroidism due to impaired PTH secretion skos:exactMatch Orphanet:189466 semapv:UnspecifiedMatching +GARD:17088 Familial isolated hypoparathyroidism due to impaired PTH secretion skos:narrowMatch OMIM:146200 semapv:UnspecifiedMatching +GARD:17089 Familial angiolipomatosis skos:exactMatch Orphanet:199279 semapv:UnspecifiedMatching +GARD:17089 Familial angiolipomatosis skos:narrowMatch OMIM:206550 semapv:UnspecifiedMatching +GARD:17090 Hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch Orphanet:199285 semapv:UnspecifiedMatching +GARD:17090 Hereditary hypercarotenemia and vitamin A deficiency skos:narrowMatch OMIM:115300 semapv:UnspecifiedMatching +GARD:17090 Hereditary hypercarotenemia and vitamin A deficiency skos:narrowMatch OMIM:277350 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:119530 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:129400 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:225060 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:600757 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:602966 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:608371 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:608874 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:610361 semapv:UnspecifiedMatching +GARD:17091 Isolated cleft lip skos:narrowMatch OMIM:612858 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:119530 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:129400 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:225060 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:600625 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:600757 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:602966 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:608371 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:608864 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:608874 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:610361 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:612858 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:613705 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:616788 semapv:UnspecifiedMatching +GARD:17092 Cleft lip/palate skos:narrowMatch OMIM:618149 semapv:UnspecifiedMatching +GARD:17093 Familial clubfoot with or without associated lower limb anomalies skos:exactMatch Orphanet:199315 semapv:UnspecifiedMatching +GARD:17093 Familial clubfoot with or without associated lower limb anomalies skos:narrowMatch OMIM:119800 semapv:UnspecifiedMatching +GARD:17093 Familial clubfoot with or without associated lower limb anomalies skos:narrowMatch OMIM:613618 semapv:UnspecifiedMatching +GARD:17094 Endocrine-cerebro-osteodysplasia syndrome skos:exactMatch Orphanet:199332 semapv:UnspecifiedMatching +GARD:17094 Endocrine-cerebro-osteodysplasia syndrome skos:narrowMatch OMIM:612651 semapv:UnspecifiedMatching +GARD:17095 Pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch Orphanet:199337 semapv:UnspecifiedMatching +GARD:17095 Pancreatic insufficiency-anemia-hyperostosis syndrome skos:narrowMatch OMIM:612714 semapv:UnspecifiedMatching +GARD:17096 Muscular dystrophy, Selcen type skos:exactMatch Orphanet:199340 semapv:UnspecifiedMatching +GARD:17096 Muscular dystrophy, Selcen type skos:narrowMatch OMIM:612954 semapv:UnspecifiedMatching +GARD:17097 Thiamine-responsive encephalopathy skos:exactMatch Orphanet:199348 semapv:UnspecifiedMatching +GARD:17097 Thiamine-responsive encephalopathy skos:narrowMatch OMIM:607483 semapv:UnspecifiedMatching +GARD:17098 Immunodeficiency with factor I anomaly skos:exactMatch Orphanet:200418 semapv:UnspecifiedMatching +GARD:17098 Immunodeficiency with factor I anomaly skos:narrowMatch OMIM:610984 semapv:UnspecifiedMatching +GARD:17099 Immunodeficiency with factor H anomaly skos:exactMatch Orphanet:200421 semapv:UnspecifiedMatching +GARD:17099 Immunodeficiency with factor H anomaly skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +GARD:17100 Gonadoblastoma skos:exactMatch Orphanet:206484 semapv:UnspecifiedMatching +GARD:17100 Gonadoblastoma skos:narrowMatch OMIM:424500 semapv:UnspecifiedMatching +GARD:17101 Autosomal recessive lower motor neuron disease with childhood onset skos:exactMatch Orphanet:206580 semapv:UnspecifiedMatching +GARD:17101 Autosomal recessive lower motor neuron disease with childhood onset skos:narrowMatch OMIM:611067 semapv:UnspecifiedMatching +GARD:17102 Autosomal dominant adult-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:209335 semapv:UnspecifiedMatching +GARD:17102 Autosomal dominant adult-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:182980 semapv:UnspecifiedMatching +GARD:17103 Severe neonatal-onset encephalopathy with microcephaly skos:exactMatch Orphanet:209370 semapv:UnspecifiedMatching +GARD:17103 Severe neonatal-onset encephalopathy with microcephaly skos:narrowMatch OMIM:300673 semapv:UnspecifiedMatching +GARD:17104 Autosomal dominant rhegmatogenous retinal detachment skos:exactMatch Orphanet:209867 semapv:UnspecifiedMatching +GARD:17104 Autosomal dominant rhegmatogenous retinal detachment skos:narrowMatch OMIM:609508 semapv:UnspecifiedMatching +GARD:17105 Extraskeletal myxoid chondrosarcoma skos:exactMatch Orphanet:209916 semapv:UnspecifiedMatching +GARD:17105 Extraskeletal myxoid chondrosarcoma skos:narrowMatch OMIM:612237 semapv:UnspecifiedMatching +GARD:17106 Idiopathic copper-associated cirrhosis skos:exactMatch Orphanet:209919 semapv:UnspecifiedMatching +GARD:17106 Idiopathic copper-associated cirrhosis skos:narrowMatch OMIM:215600 semapv:UnspecifiedMatching +GARD:17107 Episodic ataxia type 6 skos:exactMatch Orphanet:209967 semapv:UnspecifiedMatching +GARD:17107 Episodic ataxia type 6 skos:narrowMatch OMIM:612656 semapv:UnspecifiedMatching +GARD:17108 Episodic ataxia type 7 skos:exactMatch Orphanet:209970 semapv:UnspecifiedMatching +GARD:17108 Episodic ataxia type 7 skos:narrowMatch OMIM:611907 semapv:UnspecifiedMatching +GARD:17109 Inherited congenital spastic tetraplegia skos:exactMatch Orphanet:210141 semapv:UnspecifiedMatching +GARD:17109 Inherited congenital spastic tetraplegia skos:narrowMatch OMIM:612900 semapv:UnspecifiedMatching +GARD:17109 Inherited congenital spastic tetraplegia skos:narrowMatch OMIM:617008 semapv:UnspecifiedMatching +GARD:17110 Lethal polymalformative syndrome, Boissel type skos:exactMatch Orphanet:210144 semapv:UnspecifiedMatching +GARD:17110 Lethal polymalformative syndrome, Boissel type skos:narrowMatch OMIM:612938 semapv:UnspecifiedMatching +GARD:17111 Congenital lethal myopathy, Compton-North type skos:exactMatch Orphanet:210163 semapv:UnspecifiedMatching +GARD:17111 Congenital lethal myopathy, Compton-North type skos:narrowMatch OMIM:612540 semapv:UnspecifiedMatching +GARD:17112 Macrocephaly-intellectual disability-autism syndrome skos:exactMatch Orphanet:210548 semapv:UnspecifiedMatching +GARD:17112 Macrocephaly-intellectual disability-autism syndrome skos:narrowMatch OMIM:605309 semapv:UnspecifiedMatching +GARD:17112 Macrocephaly-intellectual disability-autism syndrome skos:narrowMatch OMIM:613926 semapv:UnspecifiedMatching +GARD:17113 Episodic ataxia type 5 skos:exactMatch Orphanet:211067 semapv:UnspecifiedMatching +GARD:17113 Episodic ataxia type 5 skos:narrowMatch OMIM:613855 semapv:UnspecifiedMatching +GARD:17114 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:216866 semapv:UnspecifiedMatching +GARD:17114 Classic pantothenate kinase-associated neurodegeneration skos:narrowMatch OMIM:234200 semapv:UnspecifiedMatching +GARD:17115 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:216873 semapv:UnspecifiedMatching +GARD:17115 Atypical pantothenate kinase-associated neurodegeneration skos:narrowMatch OMIM:234200 semapv:UnspecifiedMatching +GARD:17116 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch Orphanet:217026 semapv:UnspecifiedMatching +GARD:17116 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:narrowMatch OMIM:612946 semapv:UnspecifiedMatching +GARD:17117 Isolated congenital digital clubbing skos:exactMatch Orphanet:217059 semapv:UnspecifiedMatching +GARD:17117 Isolated congenital digital clubbing skos:narrowMatch OMIM:119900 semapv:UnspecifiedMatching +GARD:17118 Mucopolysaccharidosis type 2, severe form skos:exactMatch Orphanet:217085 semapv:UnspecifiedMatching +GARD:17118 Mucopolysaccharidosis type 2, severe form skos:narrowMatch OMIM:309900 semapv:UnspecifiedMatching +GARD:17119 Mucopolysaccharidosis type 2, attenuated form skos:exactMatch Orphanet:217093 semapv:UnspecifiedMatching +GARD:17119 Mucopolysaccharidosis type 2, attenuated form skos:narrowMatch OMIM:309900 semapv:UnspecifiedMatching +GARD:17120 RIN2 syndrome skos:exactMatch Orphanet:217335 semapv:UnspecifiedMatching +GARD:17120 RIN2 syndrome skos:narrowMatch OMIM:613075 semapv:UnspecifiedMatching +GARD:17121 17q21.31 microduplication syndrome skos:exactMatch Orphanet:217340 semapv:UnspecifiedMatching +GARD:17121 17q21.31 microduplication syndrome skos:narrowMatch OMIM:613533 semapv:UnspecifiedMatching +GARD:17122 17p13.3 microduplication syndrome skos:exactMatch Orphanet:217385 semapv:UnspecifiedMatching +GARD:17122 17p13.3 microduplication syndrome skos:narrowMatch OMIM:613215 semapv:UnspecifiedMatching +GARD:17123 Progressive polyneuropathy with bilateral striatal necrosis skos:exactMatch Orphanet:217396 semapv:UnspecifiedMatching +GARD:17123 Progressive polyneuropathy with bilateral striatal necrosis skos:narrowMatch OMIM:613710 semapv:UnspecifiedMatching +GARD:17124 Hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch Orphanet:217407 semapv:UnspecifiedMatching +GARD:17124 Hereditary hypotrichosis with recurrent skin vesicles skos:narrowMatch OMIM:613102 semapv:UnspecifiedMatching +GARD:17125 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch Orphanet:217467 semapv:UnspecifiedMatching +GARD:17125 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:narrowMatch OMIM:613116 semapv:UnspecifiedMatching +GARD:17126 Neonatal acute respiratory distress due to SP-B deficiency skos:exactMatch Orphanet:217563 semapv:UnspecifiedMatching +GARD:17126 Neonatal acute respiratory distress due to SP-B deficiency skos:narrowMatch OMIM:265120 semapv:UnspecifiedMatching +GARD:17127 Chronic respiratory distress with surfactant metabolism deficiency skos:exactMatch Orphanet:217566 semapv:UnspecifiedMatching +GARD:17127 Chronic respiratory distress with surfactant metabolism deficiency skos:narrowMatch OMIM:610913 semapv:UnspecifiedMatching +GARD:17128 Sensorineural deafness with dilated cardiomyopathy skos:exactMatch Orphanet:217622 semapv:UnspecifiedMatching +GARD:17128 Sensorineural deafness with dilated cardiomyopathy skos:narrowMatch OMIM:605362 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:600996 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:602086 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:602087 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:604400 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:604401 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:607450 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:609040 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:610193 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:610476 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:611528 semapv:UnspecifiedMatching +GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:615616 semapv:UnspecifiedMatching +GARD:17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch Orphanet:220295 semapv:UnspecifiedMatching +GARD:17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278730 semapv:UnspecifiedMatching +GARD:17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278760 semapv:UnspecifiedMatching +GARD:17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278780 semapv:UnspecifiedMatching +GARD:17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:610651 semapv:UnspecifiedMatching +GARD:17131 Semilobar holoprosencephaly skos:exactMatch Orphanet:220386 semapv:UnspecifiedMatching +GARD:17131 Semilobar holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +GARD:17131 Semilobar holoprosencephaly skos:narrowMatch OMIM:301043 semapv:UnspecifiedMatching +GARD:17131 Semilobar holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +GARD:17131 Semilobar holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +GARD:17132 Bleeding diathesis due to thromboxane synthesis deficiency skos:exactMatch Orphanet:220443 semapv:UnspecifiedMatching +GARD:17132 Bleeding diathesis due to thromboxane synthesis deficiency skos:narrowMatch OMIM:614009 semapv:UnspecifiedMatching +GARD:17133 Laron syndrome with immunodeficiency skos:exactMatch Orphanet:220465 semapv:UnspecifiedMatching +GARD:17133 Laron syndrome with immunodeficiency skos:narrowMatch OMIM:245590 semapv:UnspecifiedMatching +GARD:17133 Laron syndrome with immunodeficiency skos:narrowMatch OMIM:618985 semapv:UnspecifiedMatching +GARD:17134 Rothmund-Thomson syndrome type 1 skos:exactMatch Orphanet:221008 semapv:UnspecifiedMatching +GARD:17134 Rothmund-Thomson syndrome type 1 skos:narrowMatch OMIM:268400 semapv:UnspecifiedMatching +GARD:17134 Rothmund-Thomson syndrome type 1 skos:narrowMatch OMIM:618625 semapv:UnspecifiedMatching +GARD:17135 Rothmund-Thomson syndrome type 2 skos:exactMatch Orphanet:221016 semapv:UnspecifiedMatching +GARD:17135 Rothmund-Thomson syndrome type 2 skos:narrowMatch OMIM:268400 semapv:UnspecifiedMatching +GARD:17136 Hereditary sclerosing poikiloderma, Weary type skos:exactMatch Orphanet:221039 semapv:UnspecifiedMatching +GARD:17136 Hereditary sclerosing poikiloderma, Weary type skos:narrowMatch OMIM:173700 semapv:UnspecifiedMatching +GARD:17137 Hemifacial spasm skos:exactMatch Orphanet:221083 semapv:UnspecifiedMatching +GARD:17137 Hemifacial spasm skos:narrowMatch OMIM:141405 semapv:UnspecifiedMatching +GARD:17138 Fowler vasculopaty skos:exactMatch Orphanet:221126 semapv:UnspecifiedMatching +GARD:17138 Fowler vasculopaty skos:narrowMatch OMIM:225790 semapv:UnspecifiedMatching +GARD:17139 Combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch Orphanet:221139 semapv:UnspecifiedMatching +GARD:17139 Combined immunodeficiency with faciooculoskeletal anomalies skos:narrowMatch OMIM:613328 semapv:UnspecifiedMatching +GARD:17140 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch Orphanet:221145 semapv:UnspecifiedMatching +GARD:17140 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:narrowMatch OMIM:613177 semapv:UnspecifiedMatching +GARD:17141 Familial infantile bilateral striatal necrosis skos:exactMatch Orphanet:225154 semapv:UnspecifiedMatching +GARD:17141 Familial infantile bilateral striatal necrosis skos:narrowMatch OMIM:271930 semapv:UnspecifiedMatching +GARD:17141 Familial infantile bilateral striatal necrosis skos:narrowMatch OMIM:500003 semapv:UnspecifiedMatching +GARD:17142 Hereditary breast cancer skos:exactMatch Orphanet:227535 semapv:UnspecifiedMatching +GARD:17142 Hereditary breast cancer skos:narrowMatch OMIM:114480 semapv:UnspecifiedMatching +GARD:17142 Hereditary breast cancer skos:narrowMatch OMIM:604370 semapv:UnspecifiedMatching +GARD:17142 Hereditary breast cancer skos:narrowMatch OMIM:612555 semapv:UnspecifiedMatching +GARD:17142 Hereditary breast cancer skos:narrowMatch OMIM:613399 semapv:UnspecifiedMatching +GARD:17143 Autosomal recessive optic atrophy, OPA7 type skos:exactMatch Orphanet:227976 semapv:UnspecifiedMatching +GARD:17143 Autosomal recessive optic atrophy, OPA7 type skos:narrowMatch OMIM:612989 semapv:UnspecifiedMatching +GARD:17144 Severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch Orphanet:228003 semapv:UnspecifiedMatching +GARD:17144 Severe combined immunodeficiency due to CORO1A deficiency skos:narrowMatch OMIM:615401 semapv:UnspecifiedMatching +GARD:17145 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:exactMatch Orphanet:228012 semapv:UnspecifiedMatching +GARD:17145 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:narrowMatch OMIM:606346 semapv:UnspecifiedMatching +GARD:17146 Autosomal dominant striatal neurodegeneration skos:exactMatch Orphanet:228169 semapv:UnspecifiedMatching +GARD:17146 Autosomal dominant striatal neurodegeneration skos:narrowMatch OMIM:609161 semapv:UnspecifiedMatching +GARD:17147 Autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch Orphanet:228179 semapv:UnspecifiedMatching +GARD:17147 Autosomal dominant Charcot-Marie-Tooth disease type 2M skos:narrowMatch OMIM:606482 semapv:UnspecifiedMatching +GARD:17148 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch Orphanet:228190 semapv:UnspecifiedMatching +GARD:17148 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:narrowMatch OMIM:604381 semapv:UnspecifiedMatching +GARD:17149 Carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch Orphanet:228302 semapv:UnspecifiedMatching +GARD:17149 Carnitine palmitoyl transferase II deficiency, myopathic form skos:narrowMatch OMIM:255110 semapv:UnspecifiedMatching +GARD:17150 Carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch Orphanet:228305 semapv:UnspecifiedMatching +GARD:17150 Carnitine palmitoyl transferase II deficiency, severe infantile form skos:narrowMatch OMIM:600649 semapv:UnspecifiedMatching +GARD:17151 Carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch Orphanet:228308 semapv:UnspecifiedMatching +GARD:17151 Carnitine palmitoyl transferase II deficiency, neonatal form skos:narrowMatch OMIM:608836 semapv:UnspecifiedMatching +GARD:17152 CLN8 disease skos:exactMatch Orphanet:228354 semapv:UnspecifiedMatching +GARD:17152 CLN8 disease skos:narrowMatch OMIM:600143 semapv:UnspecifiedMatching +GARD:17153 Charcot-Marie-Tooth disease type 2B5 skos:exactMatch Orphanet:228374 semapv:UnspecifiedMatching +GARD:17153 Charcot-Marie-Tooth disease type 2B5 skos:narrowMatch OMIM:607734 semapv:UnspecifiedMatching +GARD:17154 Spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch Orphanet:228387 semapv:UnspecifiedMatching +GARD:17154 Spondylo-megaepiphyseal-metaphyseal dysplasia skos:narrowMatch OMIM:613330 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:exactMatch Orphanet:229717 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:300310 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:300755 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:601495 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:612692 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:613500 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:613501 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:613502 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:613506 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:615214 semapv:UnspecifiedMatching +GARD:17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:616941 semapv:UnspecifiedMatching +GARD:17156 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:exactMatch Orphanet:230857 semapv:UnspecifiedMatching +GARD:17156 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:narrowMatch OMIM:619115 semapv:UnspecifiedMatching +GARD:17156 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:narrowMatch OMIM:619120 semapv:UnspecifiedMatching +GARD:17157 Erythema palmare hereditarium skos:exactMatch Orphanet:231031 semapv:UnspecifiedMatching +GARD:17157 Erythema palmare hereditarium skos:narrowMatch OMIM:133000 semapv:UnspecifiedMatching +GARD:17158 Familial generalized lentiginosis skos:exactMatch Orphanet:231040 semapv:UnspecifiedMatching +GARD:17158 Familial generalized lentiginosis skos:narrowMatch OMIM:151001 semapv:UnspecifiedMatching +GARD:17159 Familial rhabdoid tumor skos:exactMatch Orphanet:231108 semapv:UnspecifiedMatching +GARD:17159 Familial rhabdoid tumor skos:narrowMatch OMIM:609322 semapv:UnspecifiedMatching +GARD:17159 Familial rhabdoid tumor skos:narrowMatch OMIM:613325 semapv:UnspecifiedMatching +GARD:17160 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:exactMatch Orphanet:231120 semapv:UnspecifiedMatching +GARD:17160 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:narrowMatch OMIM:130650 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:105800 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:300870 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:608542 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:609122 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:610213 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:611892 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612161 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612162 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612586 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612587 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:614252 semapv:UnspecifiedMatching +GARD:17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:618734 semapv:UnspecifiedMatching +GARD:17162 Beta-thalassemia major skos:exactMatch Orphanet:231214 semapv:UnspecifiedMatching +GARD:17162 Beta-thalassemia major skos:narrowMatch OMIM:613985 semapv:UnspecifiedMatching +GARD:17163 Beta-thalassemia intermedia skos:exactMatch Orphanet:231222 semapv:UnspecifiedMatching +GARD:17163 Beta-thalassemia intermedia skos:narrowMatch OMIM:613985 semapv:UnspecifiedMatching +GARD:17164 Dominant beta-thalassemia skos:exactMatch Orphanet:231226 semapv:UnspecifiedMatching +GARD:17164 Dominant beta-thalassemia skos:narrowMatch OMIM:603902 semapv:UnspecifiedMatching +GARD:17165 Delta-beta-thalassemia skos:exactMatch Orphanet:231237 semapv:UnspecifiedMatching +GARD:17165 Delta-beta-thalassemia skos:narrowMatch OMIM:141749 semapv:UnspecifiedMatching +GARD:17166 Beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch Orphanet:231393 semapv:UnspecifiedMatching +GARD:17166 Beta-thalassemia-X-linked thrombocytopenia syndrome skos:narrowMatch OMIM:314050 semapv:UnspecifiedMatching +GARD:17167 Alpha-thalassemia-myelodysplastic syndrome skos:exactMatch Orphanet:231401 semapv:UnspecifiedMatching +GARD:17167 Alpha-thalassemia-myelodysplastic syndrome skos:narrowMatch OMIM:300448 semapv:UnspecifiedMatching +GARD:17168 Hermansky-Pudlak syndrome due to BLOC-3 deficiency skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching +GARD:17168 Hermansky-Pudlak syndrome due to BLOC-3 deficiency skos:narrowMatch OMIM:203300 semapv:UnspecifiedMatching +GARD:17168 Hermansky-Pudlak syndrome due to BLOC-3 deficiency skos:narrowMatch OMIM:614073 semapv:UnspecifiedMatching +GARD:17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +GARD:17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency skos:narrowMatch OMIM:614072 semapv:UnspecifiedMatching +GARD:17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency skos:narrowMatch OMIM:614074 semapv:UnspecifiedMatching +GARD:17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency skos:narrowMatch OMIM:614075 semapv:UnspecifiedMatching +GARD:17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:exactMatch Orphanet:231531 semapv:UnspecifiedMatching +GARD:17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:narrowMatch OMIM:614076 semapv:UnspecifiedMatching +GARD:17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:narrowMatch OMIM:614077 semapv:UnspecifiedMatching +GARD:17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:narrowMatch OMIM:614171 semapv:UnspecifiedMatching +GARD:17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:narrowMatch OMIM:619172 semapv:UnspecifiedMatching +GARD:17171 Severe X-linked mitochondrial encephalomyopathy skos:exactMatch Orphanet:238329 semapv:UnspecifiedMatching +GARD:17171 Severe X-linked mitochondrial encephalomyopathy skos:narrowMatch OMIM:300816 semapv:UnspecifiedMatching +GARD:17172 15q11q13 microduplication syndrome skos:exactMatch Orphanet:238446 semapv:UnspecifiedMatching +GARD:17172 15q11q13 microduplication syndrome skos:narrowMatch OMIM:608636 semapv:UnspecifiedMatching +GARD:17173 Familial hypercholanemia skos:exactMatch Orphanet:238475 semapv:UnspecifiedMatching +GARD:17173 Familial hypercholanemia skos:narrowMatch OMIM:607748 semapv:UnspecifiedMatching +GARD:17173 Familial hypercholanemia skos:narrowMatch OMIM:619256 semapv:UnspecifiedMatching +GARD:17174 Combined immunodeficiency due to CD27 deficiency skos:exactMatch Orphanet:238505 semapv:UnspecifiedMatching +GARD:17174 Combined immunodeficiency due to CD27 deficiency skos:narrowMatch OMIM:615122 semapv:UnspecifiedMatching +GARD:17175 Atypical hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 semapv:UnspecifiedMatching +GARD:17175 Atypical hypotonia-cystinuria syndrome skos:narrowMatch OMIM:606407 semapv:UnspecifiedMatching +GARD:17176 Chuvash erythrocytosis skos:exactMatch Orphanet:238557 semapv:UnspecifiedMatching +GARD:17176 Chuvash erythrocytosis skos:narrowMatch OMIM:263400 semapv:UnspecifiedMatching +GARD:17177 Familial clubfoot due to 17q23.1q23.2 microduplication skos:exactMatch Orphanet:238578 semapv:UnspecifiedMatching +GARD:17177 Familial clubfoot due to 17q23.1q23.2 microduplication skos:narrowMatch OMIM:613618 semapv:UnspecifiedMatching +GARD:17178 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:exactMatch Orphanet:238613 semapv:UnspecifiedMatching +GARD:17178 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:narrowMatch OMIM:130650 semapv:UnspecifiedMatching +GARD:17179 Isolated thyrotropin-releasing hormone deficiency skos:exactMatch Orphanet:238670 semapv:UnspecifiedMatching +GARD:17179 Isolated thyrotropin-releasing hormone deficiency skos:narrowMatch OMIM:275120 semapv:UnspecifiedMatching +GARD:17180 Mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 semapv:UnspecifiedMatching +GARD:17180 Mammary-digital-nail syndrome skos:narrowMatch OMIM:613689 semapv:UnspecifiedMatching +GARD:17181 4q21 microdeletion syndrome skos:exactMatch Orphanet:238750 semapv:UnspecifiedMatching +GARD:17181 4q21 microdeletion syndrome skos:narrowMatch OMIM:613509 semapv:UnspecifiedMatching +GARD:17182 Classic progressive supranuclear palsy syndrome skos:exactMatch Orphanet:240071 semapv:UnspecifiedMatching +GARD:17182 Classic progressive supranuclear palsy syndrome skos:narrowMatch OMIM:601104 semapv:UnspecifiedMatching +GARD:17182 Classic progressive supranuclear palsy syndrome skos:narrowMatch OMIM:609454 semapv:UnspecifiedMatching +GARD:17182 Classic progressive supranuclear palsy syndrome skos:narrowMatch OMIM:610898 semapv:UnspecifiedMatching +GARD:17183 Progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch Orphanet:240085 semapv:UnspecifiedMatching +GARD:17183 Progressive supranuclear palsy-parkinsonism syndrome skos:narrowMatch OMIM:260540 semapv:UnspecifiedMatching +GARD:17184 Nijmegen breakage syndrome-like disorder skos:exactMatch Orphanet:240760 semapv:UnspecifiedMatching +GARD:17184 Nijmegen breakage syndrome-like disorder skos:narrowMatch OMIM:613078 semapv:UnspecifiedMatching +GARD:17185 Dimethylglycine dehydrogenase deficiency skos:exactMatch Orphanet:243343 semapv:UnspecifiedMatching +GARD:17185 Dimethylglycine dehydrogenase deficiency skos:narrowMatch OMIM:605850 semapv:UnspecifiedMatching +GARD:17186 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 semapv:UnspecifiedMatching +GARD:17186 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:narrowMatch OMIM:612286 semapv:UnspecifiedMatching +GARD:17186 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:narrowMatch OMIM:612287 semapv:UnspecifiedMatching +GARD:17187 Progressive cerebello-cerebral atrophy skos:exactMatch Orphanet:247198 semapv:UnspecifiedMatching +GARD:17187 Progressive cerebello-cerebral atrophy skos:narrowMatch OMIM:615851 semapv:UnspecifiedMatching +GARD:17188 Hyperphosphatasia-intellectual disability syndrome skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching +GARD:17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:239300 semapv:UnspecifiedMatching +GARD:17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:614207 semapv:UnspecifiedMatching +GARD:17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:614749 semapv:UnspecifiedMatching +GARD:17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:615716 semapv:UnspecifiedMatching +GARD:17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:616025 semapv:UnspecifiedMatching +GARD:17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:616809 semapv:UnspecifiedMatching +GARD:17189 Autosomal dominant secondary polycythemia skos:exactMatch Orphanet:247511 semapv:UnspecifiedMatching +GARD:17189 Autosomal dominant secondary polycythemia skos:narrowMatch OMIM:609820 semapv:UnspecifiedMatching +GARD:17189 Autosomal dominant secondary polycythemia skos:narrowMatch OMIM:611783 semapv:UnspecifiedMatching +GARD:17190 Primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:247522 semapv:UnspecifiedMatching +GARD:17190 Primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:narrowMatch OMIM:300455 semapv:UnspecifiedMatching +GARD:17191 Perinatal lethal hypophosphatasia skos:exactMatch Orphanet:247623 semapv:UnspecifiedMatching +GARD:17191 Perinatal lethal hypophosphatasia skos:narrowMatch OMIM:241500 semapv:UnspecifiedMatching +GARD:17192 Infantile hypophosphatasia skos:exactMatch Orphanet:247651 semapv:UnspecifiedMatching +GARD:17192 Infantile hypophosphatasia skos:narrowMatch OMIM:241500 semapv:UnspecifiedMatching +GARD:17193 Adult hypophosphatasia skos:exactMatch Orphanet:247676 semapv:UnspecifiedMatching +GARD:17193 Adult hypophosphatasia skos:narrowMatch OMIM:146300 semapv:UnspecifiedMatching +GARD:17194 Odontohypophosphatasia skos:exactMatch Orphanet:247685 semapv:UnspecifiedMatching +GARD:17194 Odontohypophosphatasia skos:narrowMatch OMIM:146300 semapv:UnspecifiedMatching +GARD:17195 Müllerian aplasia and hyperandrogenism skos:exactMatch Orphanet:247768 semapv:UnspecifiedMatching +GARD:17195 Müllerian aplasia and hyperandrogenism skos:narrowMatch OMIM:158330 semapv:UnspecifiedMatching +GARD:17196 Juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch Orphanet:247794 semapv:UnspecifiedMatching +GARD:17196 Juvenile cataract-microcornea-renal glucosuria syndrome skos:narrowMatch OMIM:612018 semapv:UnspecifiedMatching +GARD:17197 APC-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:247806 semapv:UnspecifiedMatching +GARD:17197 APC-related attenuated familial adenomatous polyposis skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +GARD:17198 Ectodermal dysplasia-syndactyly syndrome skos:exactMatch Orphanet:247820 semapv:UnspecifiedMatching +GARD:17198 Ectodermal dysplasia-syndactyly syndrome skos:narrowMatch OMIM:613573 semapv:UnspecifiedMatching +GARD:17199 Ectodermal dysplasia-cutaneous syndactyly syndrome skos:exactMatch Orphanet:247827 semapv:UnspecifiedMatching +GARD:17199 Ectodermal dysplasia-cutaneous syndactyly syndrome skos:narrowMatch OMIM:613576 semapv:UnspecifiedMatching +GARD:172 Macrocephaly-short stature-paraplegia syndrome skos:exactMatch Orphanet:2427 semapv:UnspecifiedMatching +GARD:17200 Occult macular dystrophy skos:exactMatch Orphanet:247834 semapv:UnspecifiedMatching +GARD:17200 Occult macular dystrophy skos:narrowMatch OMIM:613587 semapv:UnspecifiedMatching +GARD:17201 NLRP12-associated hereditary periodic fever syndrome skos:exactMatch Orphanet:247868 semapv:UnspecifiedMatching +GARD:17201 NLRP12-associated hereditary periodic fever syndrome skos:narrowMatch OMIM:611762 semapv:UnspecifiedMatching +GARD:17202 Familial hypodysfibrinogenemia skos:exactMatch Orphanet:248408 semapv:UnspecifiedMatching +GARD:17202 Familial hypodysfibrinogenemia skos:narrowMatch OMIM:616004 semapv:UnspecifiedMatching +GARD:17203 Autosomal recessive Stickler syndrome skos:exactMatch Orphanet:250984 semapv:UnspecifiedMatching +GARD:17203 Autosomal recessive Stickler syndrome skos:narrowMatch OMIM:614134 semapv:UnspecifiedMatching +GARD:17203 Autosomal recessive Stickler syndrome skos:narrowMatch OMIM:614284 semapv:UnspecifiedMatching +GARD:17204 SATB2-associated syndrome due to a chromosomal rearrangement skos:exactMatch Orphanet:251028 semapv:UnspecifiedMatching +GARD:17204 SATB2-associated syndrome due to a chromosomal rearrangement skos:narrowMatch OMIM:612313 semapv:UnspecifiedMatching +GARD:17205 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome skos:exactMatch Orphanet:251279 semapv:UnspecifiedMatching +GARD:17205 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome skos:narrowMatch OMIM:611040 semapv:UnspecifiedMatching +GARD:17206 Autosomal dominant spastic ataxia type 1 skos:exactMatch Orphanet:251282 semapv:UnspecifiedMatching +GARD:17206 Autosomal dominant spastic ataxia type 1 skos:narrowMatch OMIM:108600 semapv:UnspecifiedMatching +GARD:17207 Parietal foramina with clavicular hypoplasia skos:exactMatch Orphanet:251290 semapv:UnspecifiedMatching +GARD:17207 Parietal foramina with clavicular hypoplasia skos:narrowMatch OMIM:168550 semapv:UnspecifiedMatching +GARD:17208 Pigmented paravenous retinochoroidal atrophy skos:exactMatch Orphanet:251295 semapv:UnspecifiedMatching +GARD:17208 Pigmented paravenous retinochoroidal atrophy skos:narrowMatch OMIM:172870 semapv:UnspecifiedMatching +GARD:17209 Ataxia-telangiectasia-like disorder skos:exactMatch Orphanet:251347 semapv:UnspecifiedMatching +GARD:17209 Ataxia-telangiectasia-like disorder skos:narrowMatch OMIM:604391 semapv:UnspecifiedMatching +GARD:17210 CK syndrome skos:exactMatch Orphanet:251383 semapv:UnspecifiedMatching +GARD:17210 CK syndrome skos:narrowMatch OMIM:300831 semapv:UnspecifiedMatching +GARD:17211 46,XY partial gonadal dysgenesis skos:exactMatch Orphanet:251510 semapv:UnspecifiedMatching +GARD:17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:154230 semapv:UnspecifiedMatching +GARD:17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:300018 semapv:UnspecifiedMatching +GARD:17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:612965 semapv:UnspecifiedMatching +GARD:17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:613762 semapv:UnspecifiedMatching +GARD:17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:615542 semapv:UnspecifiedMatching +GARD:17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:616067 semapv:UnspecifiedMatching +GARD:17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:616425 semapv:UnspecifiedMatching +GARD:17212 Distal arthrogryposis type 10 skos:exactMatch Orphanet:251515 semapv:UnspecifiedMatching +GARD:17212 Distal arthrogryposis type 10 skos:narrowMatch OMIM:187370 semapv:UnspecifiedMatching +GARD:17213 Hyperzincemia and hypercalprotectinemia skos:exactMatch Orphanet:251523 semapv:UnspecifiedMatching +GARD:17213 Hyperzincemia and hypercalprotectinemia skos:narrowMatch OMIM:194470 semapv:UnspecifiedMatching +GARD:17214 Medulloblastoma with extensive nodularity skos:exactMatch Orphanet:251858 semapv:UnspecifiedMatching +GARD:17214 Medulloblastoma with extensive nodularity skos:narrowMatch OMIM:155255 semapv:UnspecifiedMatching +GARD:17215 Desmoplastic/nodular medulloblastoma skos:exactMatch Orphanet:251863 semapv:UnspecifiedMatching +GARD:17215 Desmoplastic/nodular medulloblastoma skos:narrowMatch OMIM:155255 semapv:UnspecifiedMatching +GARD:17216 Classic medulloblastoma skos:exactMatch Orphanet:251867 semapv:UnspecifiedMatching +GARD:17216 Classic medulloblastoma skos:narrowMatch OMIM:155255 semapv:UnspecifiedMatching +GARD:17217 Constitutional mismatch repair deficiency syndrome skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching +GARD:17217 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:276300 semapv:UnspecifiedMatching +GARD:17217 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619096 semapv:UnspecifiedMatching +GARD:17217 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619097 semapv:UnspecifiedMatching +GARD:17217 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619101 semapv:UnspecifiedMatching +GARD:17218 Distal 7q11.23 microdeletion syndrome skos:exactMatch Orphanet:254351 semapv:UnspecifiedMatching +GARD:17218 Distal 7q11.23 microdeletion syndrome skos:narrowMatch OMIM:613729 semapv:UnspecifiedMatching +GARD:17219 Kagami-Ogata syndrome skos:exactMatch Orphanet:254519 semapv:UnspecifiedMatching +GARD:17219 Kagami-Ogata syndrome skos:narrowMatch OMIM:608149 semapv:UnspecifiedMatching +GARD:1722 Erythrokeratoderma ''en cocardes'' skos:exactMatch Orphanet:315 semapv:UnspecifiedMatching +GARD:17220 Temple syndrome due to paternal 14q32.2 microdeletion skos:exactMatch Orphanet:254525 semapv:UnspecifiedMatching +GARD:17220 Temple syndrome due to paternal 14q32.2 microdeletion skos:narrowMatch OMIM:616222 semapv:UnspecifiedMatching +GARD:17221 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion skos:exactMatch Orphanet:254528 semapv:UnspecifiedMatching +GARD:17221 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion skos:narrowMatch OMIM:608149 semapv:UnspecifiedMatching +GARD:17222 Temple syndrome due to paternal 14q32.2 hypomethylation skos:exactMatch Orphanet:254531 semapv:UnspecifiedMatching +GARD:17222 Temple syndrome due to paternal 14q32.2 hypomethylation skos:narrowMatch OMIM:616222 semapv:UnspecifiedMatching +GARD:17223 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation skos:exactMatch Orphanet:254534 semapv:UnspecifiedMatching +GARD:17223 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation skos:narrowMatch OMIM:608149 semapv:UnspecifiedMatching +GARD:17224 Complete hydatidiform mole skos:exactMatch Orphanet:254688 semapv:UnspecifiedMatching +GARD:17224 Complete hydatidiform mole skos:narrowMatch OMIM:231090 semapv:UnspecifiedMatching +GARD:17224 Complete hydatidiform mole skos:narrowMatch OMIM:614293 semapv:UnspecifiedMatching +GARD:17224 Complete hydatidiform mole skos:narrowMatch OMIM:618431 semapv:UnspecifiedMatching +GARD:17224 Complete hydatidiform mole skos:narrowMatch OMIM:618432 semapv:UnspecifiedMatching +GARD:17225 Mitochondrial DNA depletion syndrome, encephalomyopathic form skos:exactMatch Orphanet:254803 semapv:UnspecifiedMatching +GARD:17225 Mitochondrial DNA depletion syndrome, encephalomyopathic form skos:narrowMatch OMIM:612073 semapv:UnspecifiedMatching +GARD:17225 Mitochondrial DNA depletion syndrome, encephalomyopathic form skos:narrowMatch OMIM:612075 semapv:UnspecifiedMatching +GARD:17226 Lethal infantile mitochondrial myopathy skos:exactMatch Orphanet:254857 semapv:UnspecifiedMatching +GARD:17226 Lethal infantile mitochondrial myopathy skos:narrowMatch OMIM:551000 semapv:UnspecifiedMatching +GARD:17227 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch Orphanet:254864 semapv:UnspecifiedMatching +GARD:17227 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:narrowMatch OMIM:500009 semapv:UnspecifiedMatching +GARD:17228 Mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch Orphanet:254875 semapv:UnspecifiedMatching +GARD:17228 Mitochondrial DNA depletion syndrome, myopathic form skos:narrowMatch OMIM:609560 semapv:UnspecifiedMatching +GARD:17228 Mitochondrial DNA depletion syndrome, myopathic form skos:narrowMatch OMIM:618972 semapv:UnspecifiedMatching +GARD:17229 Spinocerebellar ataxia with epilepsy skos:exactMatch Orphanet:254881 semapv:UnspecifiedMatching +GARD:17229 Spinocerebellar ataxia with epilepsy skos:narrowMatch OMIM:607459 semapv:UnspecifiedMatching +GARD:17230 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch Orphanet:254898 semapv:UnspecifiedMatching +GARD:17230 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:narrowMatch OMIM:614651 semapv:UnspecifiedMatching +GARD:17231 Renal tubulopathy-encephalopathy-liver failure syndrome skos:exactMatch Orphanet:254902 semapv:UnspecifiedMatching +GARD:17231 Renal tubulopathy-encephalopathy-liver failure syndrome skos:narrowMatch OMIM:124000 semapv:UnspecifiedMatching +GARD:17232 Combined oxidative phosphorylation defect type 2 skos:exactMatch Orphanet:254920 semapv:UnspecifiedMatching +GARD:17232 Combined oxidative phosphorylation defect type 2 skos:narrowMatch OMIM:610498 semapv:UnspecifiedMatching +GARD:17233 Combined oxidative phosphorylation defect type 4 skos:exactMatch Orphanet:254925 semapv:UnspecifiedMatching +GARD:17233 Combined oxidative phosphorylation defect type 4 skos:narrowMatch OMIM:610678 semapv:UnspecifiedMatching +GARD:17234 Combined oxidative phosphorylation defect type 7 skos:exactMatch Orphanet:254930 semapv:UnspecifiedMatching +GARD:17234 Combined oxidative phosphorylation defect type 7 skos:narrowMatch OMIM:613559 semapv:UnspecifiedMatching +GARD:17235 Adult-onset autosomal recessive sideroblastic anemia skos:exactMatch Orphanet:255132 semapv:UnspecifiedMatching +GARD:17235 Adult-onset autosomal recessive sideroblastic anemia skos:narrowMatch OMIM:616860 semapv:UnspecifiedMatching +GARD:17236 Pyruvate dehydrogenase E1-beta deficiency skos:exactMatch Orphanet:255138 semapv:UnspecifiedMatching +GARD:17236 Pyruvate dehydrogenase E1-beta deficiency skos:narrowMatch OMIM:614111 semapv:UnspecifiedMatching +GARD:17237 Pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch Orphanet:255182 semapv:UnspecifiedMatching +GARD:17237 Pyruvate dehydrogenase E3-binding protein deficiency skos:narrowMatch OMIM:245349 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:252010 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:256000 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:616277 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618222 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618224 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618225 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618226 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618228 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618229 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618230 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618233 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618235 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618239 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618240 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618241 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618243 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618244 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618248 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618249 semapv:UnspecifiedMatching +GARD:17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618257 semapv:UnspecifiedMatching +GARD:17239 Leigh syndrome with nephrotic syndrome skos:exactMatch Orphanet:255249 semapv:UnspecifiedMatching +GARD:17239 Leigh syndrome with nephrotic syndrome skos:narrowMatch OMIM:607426 semapv:UnspecifiedMatching +GARD:17239 Leigh syndrome with nephrotic syndrome skos:narrowMatch OMIM:614652 semapv:UnspecifiedMatching +GARD:17240 Autosomal recessive sideroblastic anemia skos:exactMatch Orphanet:260305 semapv:UnspecifiedMatching +GARD:17240 Autosomal recessive sideroblastic anemia skos:narrowMatch OMIM:182170 semapv:UnspecifiedMatching +GARD:17240 Autosomal recessive sideroblastic anemia skos:narrowMatch OMIM:205950 semapv:UnspecifiedMatching +GARD:17241 14q11.2 microdeletion syndrome skos:exactMatch Orphanet:261120 semapv:UnspecifiedMatching +GARD:17241 14q11.2 microdeletion syndrome skos:narrowMatch OMIM:613457 semapv:UnspecifiedMatching +GARD:17242 15q14 microdeletion syndrome skos:exactMatch Orphanet:261190 semapv:UnspecifiedMatching +GARD:17242 15q14 microdeletion syndrome skos:narrowMatch OMIM:616898 semapv:UnspecifiedMatching +GARD:17243 16p11.2p12.2 microdeletion syndrome skos:exactMatch Orphanet:261211 semapv:UnspecifiedMatching +GARD:17243 16p11.2p12.2 microdeletion syndrome skos:narrowMatch OMIM:613604 semapv:UnspecifiedMatching +GARD:17244 Distal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261222 semapv:UnspecifiedMatching +GARD:17244 Distal 16p11.2 microdeletion syndrome skos:narrowMatch OMIM:613444 semapv:UnspecifiedMatching +GARD:17245 Distal 22q11.2 microdeletion syndrome skos:exactMatch Orphanet:261330 semapv:UnspecifiedMatching +GARD:17245 Distal 22q11.2 microdeletion syndrome skos:narrowMatch OMIM:611867 semapv:UnspecifiedMatching +GARD:17246 Xp21 deletion syndrome skos:exactMatch Orphanet:261476 semapv:UnspecifiedMatching +GARD:17246 Xp21 deletion syndrome skos:narrowMatch OMIM:300679 semapv:UnspecifiedMatching +GARD:17247 Xq27.3q28 duplication syndrome skos:exactMatch Orphanet:261483 semapv:UnspecifiedMatching +GARD:17247 Xq27.3q28 duplication syndrome skos:narrowMatch OMIM:300869 semapv:UnspecifiedMatching +GARD:17248 Mowat-Wilson syndrome due to monosomy 2q22 skos:exactMatch Orphanet:261537 semapv:UnspecifiedMatching +GARD:17248 Mowat-Wilson syndrome due to monosomy 2q22 skos:narrowMatch OMIM:235730 semapv:UnspecifiedMatching +GARD:17249 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:exactMatch Orphanet:261552 semapv:UnspecifiedMatching +GARD:17249 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:narrowMatch OMIM:235730 semapv:UnspecifiedMatching +GARD:17250 Alagille syndrome due to 20p12 microdeletion skos:exactMatch Orphanet:261600 semapv:UnspecifiedMatching +GARD:17250 Alagille syndrome due to 20p12 microdeletion skos:narrowMatch OMIM:118450 semapv:UnspecifiedMatching +GARD:17251 Alagille syndrome due to a JAG1 point mutation skos:exactMatch Orphanet:261619 semapv:UnspecifiedMatching +GARD:17251 Alagille syndrome due to a JAG1 point mutation skos:narrowMatch OMIM:118450 semapv:UnspecifiedMatching +GARD:17252 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch Orphanet:261629 semapv:UnspecifiedMatching +GARD:17252 Alagille syndrome due to a NOTCH2 point mutation skos:narrowMatch OMIM:610205 semapv:UnspecifiedMatching +GARD:17253 Kleefstra syndrome due to a point mutation skos:exactMatch Orphanet:261652 semapv:UnspecifiedMatching +GARD:17253 Kleefstra syndrome due to a point mutation skos:narrowMatch OMIM:610253 semapv:UnspecifiedMatching +GARD:17253 Kleefstra syndrome due to a point mutation skos:narrowMatch OMIM:617768 semapv:UnspecifiedMatching +GARD:17254 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency skos:exactMatch Orphanet:263297 semapv:UnspecifiedMatching +GARD:17254 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency skos:narrowMatch OMIM:613507 semapv:UnspecifiedMatching +GARD:17255 MRCS syndrome skos:exactMatch Orphanet:263347 semapv:UnspecifiedMatching +GARD:17255 MRCS syndrome skos:narrowMatch OMIM:193220 semapv:UnspecifiedMatching +GARD:17255 MRCS syndrome skos:narrowMatch OMIM:619082 semapv:UnspecifiedMatching +GARD:17256 Hyperinsulinism due to INSR deficiency skos:exactMatch Orphanet:263458 semapv:UnspecifiedMatching +GARD:17256 Hyperinsulinism due to INSR deficiency skos:narrowMatch OMIM:609968 semapv:UnspecifiedMatching +GARD:17257 Acute necrotizing encephalopathy of childhood skos:exactMatch Orphanet:263524 semapv:UnspecifiedMatching +GARD:17257 Acute necrotizing encephalopathy of childhood skos:narrowMatch OMIM:614212 semapv:UnspecifiedMatching +GARD:17258 Peeling skin syndrome type A skos:exactMatch Orphanet:263548 semapv:UnspecifiedMatching +GARD:17258 Peeling skin syndrome type A skos:narrowMatch OMIM:616265 semapv:UnspecifiedMatching +GARD:17258 Peeling skin syndrome type A skos:narrowMatch OMIM:618084 semapv:UnspecifiedMatching +GARD:17259 Peeling skin syndrome type B skos:exactMatch Orphanet:263553 semapv:UnspecifiedMatching +GARD:17259 Peeling skin syndrome type B skos:narrowMatch OMIM:270300 semapv:UnspecifiedMatching +GARD:17260 Familial multiple meningioma skos:exactMatch Orphanet:263662 semapv:UnspecifiedMatching +GARD:17260 Familial multiple meningioma skos:narrowMatch OMIM:607174 semapv:UnspecifiedMatching +GARD:17261 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:exactMatch Orphanet:264580 semapv:UnspecifiedMatching +GARD:17261 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:narrowMatch OMIM:306000 semapv:UnspecifiedMatching +GARD:17261 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:narrowMatch OMIM:613027 semapv:UnspecifiedMatching +GARD:17262 RAS-associated autoimmune leukoproliferative disease skos:exactMatch Orphanet:268114 semapv:UnspecifiedMatching +GARD:17262 RAS-associated autoimmune leukoproliferative disease skos:narrowMatch OMIM:614470 semapv:UnspecifiedMatching +GARD:17263 Classic maple syrup urine disease skos:exactMatch Orphanet:268145 semapv:UnspecifiedMatching +GARD:17263 Classic maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +GARD:17264 Intermediate maple syrup urine disease skos:exactMatch Orphanet:268162 semapv:UnspecifiedMatching +GARD:17264 Intermediate maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +GARD:17264 Intermediate maple syrup urine disease skos:narrowMatch OMIM:615135 semapv:UnspecifiedMatching +GARD:17265 Intermittent maple syrup urine disease skos:exactMatch Orphanet:268173 semapv:UnspecifiedMatching +GARD:17265 Intermittent maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +GARD:17266 Thiamine-responsive maple syrup urine disease skos:exactMatch Orphanet:268184 semapv:UnspecifiedMatching +GARD:17266 Thiamine-responsive maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +GARD:17267 Hereditary thrombocytopenia with normal platelets skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching +GARD:17267 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:188000 semapv:UnspecifiedMatching +GARD:17267 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:273900 semapv:UnspecifiedMatching +GARD:17267 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:313900 semapv:UnspecifiedMatching +GARD:17267 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:612004 semapv:UnspecifiedMatching +GARD:17268 Neural tube closure defect skos:exactMatch Orphanet:268357 semapv:UnspecifiedMatching +GARD:17268 Neural tube closure defect skos:narrowMatch OMIM:182940 semapv:UnspecifiedMatching +GARD:17268 Neural tube closure defect skos:narrowMatch OMIM:301410 semapv:UnspecifiedMatching +GARD:17268 Neural tube closure defect skos:narrowMatch OMIM:601634 semapv:UnspecifiedMatching +GARD:17269 Bilateral polymicrogyria skos:exactMatch Orphanet:268940 semapv:UnspecifiedMatching +GARD:17269 Bilateral polymicrogyria skos:narrowMatch OMIM:300388 semapv:UnspecifiedMatching +GARD:17269 Bilateral polymicrogyria skos:narrowMatch OMIM:606854 semapv:UnspecifiedMatching +GARD:17269 Bilateral polymicrogyria skos:narrowMatch OMIM:612691 semapv:UnspecifiedMatching +GARD:17269 Bilateral polymicrogyria skos:narrowMatch OMIM:615752 semapv:UnspecifiedMatching +GARD:17269 Bilateral polymicrogyria skos:narrowMatch OMIM:616531 semapv:UnspecifiedMatching +GARD:1727 Delayed membranous cranial ossification skos:exactMatch Orphanet:3034 semapv:UnspecifiedMatching +GARD:1727 Delayed membranous cranial ossification skos:narrowMatch OMIM:155980 semapv:UnspecifiedMatching +GARD:17270 Isolated focal cortical dysplasia type IIa skos:exactMatch Orphanet:269001 semapv:UnspecifiedMatching +GARD:17270 Isolated focal cortical dysplasia type IIa skos:narrowMatch OMIM:607341 semapv:UnspecifiedMatching +GARD:17271 Isolated focal cortical dysplasia type IIb skos:exactMatch Orphanet:269008 semapv:UnspecifiedMatching +GARD:17271 Isolated focal cortical dysplasia type IIb skos:narrowMatch OMIM:607341 semapv:UnspecifiedMatching +GARD:17272 Congenital non-communicating hydrocephalus skos:exactMatch Orphanet:269510 semapv:UnspecifiedMatching +GARD:17272 Congenital non-communicating hydrocephalus skos:narrowMatch OMIM:236600 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:105550 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:608030 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:612069 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:613954 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:615911 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:616437 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:616439 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:619133 semapv:UnspecifiedMatching +GARD:17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:619141 semapv:UnspecifiedMatching +GARD:17274 Benign epithelial tumor of salivary glands skos:exactMatch Orphanet:276148 semapv:UnspecifiedMatching +GARD:17274 Benign epithelial tumor of salivary glands skos:narrowMatch OMIM:181030 semapv:UnspecifiedMatching +GARD:17275 Multiple endocrine neoplasia type 4 skos:exactMatch Orphanet:276152 semapv:UnspecifiedMatching +GARD:17275 Multiple endocrine neoplasia type 4 skos:narrowMatch OMIM:610755 semapv:UnspecifiedMatching +GARD:17276 Spinocerebellar ataxia type 32 skos:exactMatch Orphanet:276183 semapv:UnspecifiedMatching +GARD:17276 Spinocerebellar ataxia type 32 skos:narrowMatch OMIM:613909 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:606766 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:612997 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:614822 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617576 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617592 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617593 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617965 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618152 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618153 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618429 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618433 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618643 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618664 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618670 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618745 semapv:UnspecifiedMatching +GARD:17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618751 semapv:UnspecifiedMatching +GARD:17278 Familial multinodular goiter skos:exactMatch Orphanet:276399 semapv:UnspecifiedMatching +GARD:17278 Familial multinodular goiter skos:narrowMatch OMIM:138800 semapv:UnspecifiedMatching +GARD:17279 Hyperbiliverdinemia skos:exactMatch Orphanet:276405 semapv:UnspecifiedMatching +GARD:17279 Hyperbiliverdinemia skos:narrowMatch OMIM:614156 semapv:UnspecifiedMatching +GARD:17280 10q22.3q23.3 microdeletion syndrome skos:exactMatch Orphanet:276413 semapv:UnspecifiedMatching +GARD:17280 10q22.3q23.3 microdeletion syndrome skos:narrowMatch OMIM:612242 semapv:UnspecifiedMatching +GARD:17281 Ogden syndrome skos:exactMatch Orphanet:276432 semapv:UnspecifiedMatching +GARD:17281 Ogden syndrome skos:narrowMatch OMIM:300855 semapv:UnspecifiedMatching +GARD:17282 Lower motor neuron syndrome with late-adult onset skos:exactMatch Orphanet:276435 semapv:UnspecifiedMatching +GARD:17282 Lower motor neuron syndrome with late-adult onset skos:narrowMatch OMIM:615048 semapv:UnspecifiedMatching +GARD:17283 Autosomal dominant hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:276575 semapv:UnspecifiedMatching +GARD:17283 Autosomal dominant hyperinsulinism due to SUR1 deficiency skos:narrowMatch OMIM:256450 semapv:UnspecifiedMatching +GARD:17284 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:276580 semapv:UnspecifiedMatching +GARD:17284 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:narrowMatch OMIM:601820 semapv:UnspecifiedMatching +GARD:17285 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:276598 semapv:UnspecifiedMatching +GARD:17285 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:narrowMatch OMIM:256450 semapv:UnspecifiedMatching +GARD:17286 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:276603 semapv:UnspecifiedMatching +GARD:17286 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:narrowMatch OMIM:601820 semapv:UnspecifiedMatching +GARD:17287 Hereditary neutrophilia skos:exactMatch Orphanet:279943 semapv:UnspecifiedMatching +GARD:17287 Hereditary neutrophilia skos:narrowMatch OMIM:162830 semapv:UnspecifiedMatching +GARD:17288 Severe combined immunodeficiency due to LCK deficiency skos:exactMatch Orphanet:280142 semapv:UnspecifiedMatching +GARD:17288 Severe combined immunodeficiency due to LCK deficiency skos:narrowMatch OMIM:615758 semapv:UnspecifiedMatching +GARD:17289 Septopreoptic holoprosencephaly skos:exactMatch Orphanet:280195 semapv:UnspecifiedMatching +GARD:17289 Septopreoptic holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +GARD:17289 Septopreoptic holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +GARD:17289 Septopreoptic holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +GARD:17290 Microform holoprosencephaly skos:exactMatch Orphanet:280200 semapv:UnspecifiedMatching +GARD:17290 Microform holoprosencephaly skos:narrowMatch OMIM:147250 semapv:UnspecifiedMatching +GARD:17290 Microform holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +GARD:17290 Microform holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +GARD:17290 Microform holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +GARD:17291 Pelizaeus-Merzbacher disease, connatal form skos:exactMatch Orphanet:280210 semapv:UnspecifiedMatching +GARD:17291 Pelizaeus-Merzbacher disease, connatal form skos:narrowMatch OMIM:312080 semapv:UnspecifiedMatching +GARD:17292 Null syndrome skos:exactMatch Orphanet:280234 semapv:UnspecifiedMatching +GARD:17292 Null syndrome skos:narrowMatch OMIM:312080 semapv:UnspecifiedMatching +GARD:17293 Pelizaeus-Merzbacher-like disease due to GJC2 mutation skos:exactMatch Orphanet:280282 semapv:UnspecifiedMatching +GARD:17293 Pelizaeus-Merzbacher-like disease due to GJC2 mutation skos:narrowMatch OMIM:608804 semapv:UnspecifiedMatching +GARD:17294 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation skos:exactMatch Orphanet:280288 semapv:UnspecifiedMatching +GARD:17294 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation skos:narrowMatch OMIM:612233 semapv:UnspecifiedMatching +GARD:17295 Familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch Orphanet:280406 semapv:UnspecifiedMatching +GARD:17295 Familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:narrowMatch OMIM:614650 semapv:UnspecifiedMatching +GARD:17296 Fatal infantile hypertonic myofibrillar myopathy skos:exactMatch Orphanet:280553 semapv:UnspecifiedMatching +GARD:17296 Fatal infantile hypertonic myofibrillar myopathy skos:narrowMatch OMIM:613869 semapv:UnspecifiedMatching +GARD:17297 Hemoglobinopathy Toms River skos:exactMatch Orphanet:280615 semapv:UnspecifiedMatching +GARD:17297 Hemoglobinopathy Toms River skos:narrowMatch OMIM:613977 semapv:UnspecifiedMatching +GARD:17298 Familial progressive hyper- and hypopigmentation skos:exactMatch Orphanet:280628 semapv:UnspecifiedMatching +GARD:17298 Familial progressive hyper- and hypopigmentation skos:narrowMatch OMIM:145250 semapv:UnspecifiedMatching +GARD:17299 Occipital pachygyria and polymicrogyria skos:exactMatch Orphanet:280640 semapv:UnspecifiedMatching +GARD:17299 Occipital pachygyria and polymicrogyria skos:narrowMatch OMIM:614115 semapv:UnspecifiedMatching +GARD:17300 Acrodysostosis with multiple hormone resistance skos:exactMatch Orphanet:280651 semapv:UnspecifiedMatching +GARD:17300 Acrodysostosis with multiple hormone resistance skos:narrowMatch OMIM:101800 semapv:UnspecifiedMatching +GARD:17300 Acrodysostosis with multiple hormone resistance skos:narrowMatch OMIM:614613 semapv:UnspecifiedMatching +GARD:17301 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:280679 semapv:UnspecifiedMatching +GARD:17301 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:narrowMatch OMIM:300845 semapv:UnspecifiedMatching +GARD:17302 Syndromic recessive X-linked ichthyosis skos:exactMatch Orphanet:281090 semapv:UnspecifiedMatching +GARD:17302 Syndromic recessive X-linked ichthyosis skos:narrowMatch OMIM:308100 semapv:UnspecifiedMatching +GARD:17303 Self-improving collodion baby skos:exactMatch Orphanet:281122 semapv:UnspecifiedMatching +GARD:17303 Self-improving collodion baby skos:narrowMatch OMIM:242100 semapv:UnspecifiedMatching +GARD:17303 Self-improving collodion baby skos:narrowMatch OMIM:242300 semapv:UnspecifiedMatching +GARD:17303 Self-improving collodion baby skos:narrowMatch OMIM:606545 semapv:UnspecifiedMatching +GARD:17304 Annular epidermolytic ichthyosis skos:exactMatch Orphanet:281139 semapv:UnspecifiedMatching +GARD:17304 Annular epidermolytic ichthyosis skos:narrowMatch OMIM:607602 semapv:UnspecifiedMatching +GARD:17305 Congenital reticular ichthyosiform erythroderma skos:exactMatch Orphanet:281190 semapv:UnspecifiedMatching +GARD:17305 Congenital reticular ichthyosiform erythroderma skos:narrowMatch OMIM:609165 semapv:UnspecifiedMatching +GARD:17306 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch Orphanet:281201 semapv:UnspecifiedMatching +GARD:17306 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:narrowMatch OMIM:601952 semapv:UnspecifiedMatching +GARD:17307 Inherited Creutzfeldt-Jakob disease skos:exactMatch Orphanet:282166 semapv:UnspecifiedMatching +GARD:17307 Inherited Creutzfeldt-Jakob disease skos:narrowMatch OMIM:123400 semapv:UnspecifiedMatching +GARD:17308 Larsen-like syndrome, B3GAT3 type skos:exactMatch Orphanet:284139 semapv:UnspecifiedMatching +GARD:17308 Larsen-like syndrome, B3GAT3 type skos:narrowMatch OMIM:245600 semapv:UnspecifiedMatching +GARD:17309 Craniosynostosis-dental anomalies skos:exactMatch Orphanet:284149 semapv:UnspecifiedMatching +GARD:17309 Craniosynostosis-dental anomalies skos:narrowMatch OMIM:614188 semapv:UnspecifiedMatching +GARD:17310 8q21.11 microdeletion syndrome skos:exactMatch Orphanet:284160 semapv:UnspecifiedMatching +GARD:17310 8q21.11 microdeletion syndrome skos:narrowMatch OMIM:614230 semapv:UnspecifiedMatching +GARD:17311 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 semapv:UnspecifiedMatching +GARD:17311 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion skos:narrowMatch OMIM:616708 semapv:UnspecifiedMatching +GARD:17312 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome skos:exactMatch Orphanet:284271 semapv:UnspecifiedMatching +GARD:17312 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome skos:narrowMatch OMIM:614229 semapv:UnspecifiedMatching +GARD:17313 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency skos:exactMatch Orphanet:284282 semapv:UnspecifiedMatching +GARD:17313 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency skos:narrowMatch OMIM:614322 semapv:UnspecifiedMatching +GARD:17314 Adult-onset autosomal recessive cerebellar ataxia skos:exactMatch Orphanet:284289 semapv:UnspecifiedMatching +GARD:17314 Adult-onset autosomal recessive cerebellar ataxia skos:narrowMatch OMIM:613728 semapv:UnspecifiedMatching +GARD:17315 Pontocerebellar hypoplasia type 7 skos:exactMatch Orphanet:284339 semapv:UnspecifiedMatching +GARD:17315 Pontocerebellar hypoplasia type 7 skos:narrowMatch OMIM:614969 semapv:UnspecifiedMatching +GARD:17316 Glycerol kinase deficiency, juvenile form skos:exactMatch Orphanet:284411 semapv:UnspecifiedMatching +GARD:17316 Glycerol kinase deficiency, juvenile form skos:narrowMatch OMIM:307030 semapv:UnspecifiedMatching +GARD:17317 Glycerol kinase deficiency, adult form skos:exactMatch Orphanet:284414 semapv:UnspecifiedMatching +GARD:17317 Glycerol kinase deficiency, adult form skos:narrowMatch OMIM:307030 semapv:UnspecifiedMatching +GARD:17318 Marfan syndrome type 2 skos:exactMatch Orphanet:284973 semapv:UnspecifiedMatching +GARD:17318 Marfan syndrome type 2 skos:narrowMatch OMIM:610168 semapv:UnspecifiedMatching +GARD:17319 Hypocalcemic vitamin D-dependent rickets skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching +GARD:17319 Hypocalcemic vitamin D-dependent rickets skos:narrowMatch OMIM:264700 semapv:UnspecifiedMatching +GARD:17319 Hypocalcemic vitamin D-dependent rickets skos:narrowMatch OMIM:600081 semapv:UnspecifiedMatching +GARD:17320 Autosomal recessive hypophosphatemic rickets skos:exactMatch Orphanet:289176 semapv:UnspecifiedMatching +GARD:17320 Autosomal recessive hypophosphatemic rickets skos:narrowMatch OMIM:241520 semapv:UnspecifiedMatching +GARD:17320 Autosomal recessive hypophosphatemic rickets skos:narrowMatch OMIM:613312 semapv:UnspecifiedMatching +GARD:17321 Hypermethioninemia encephalopathy due to adenosine kinase deficiency skos:exactMatch Orphanet:289290 semapv:UnspecifiedMatching +GARD:17321 Hypermethioninemia encephalopathy due to adenosine kinase deficiency skos:narrowMatch OMIM:614300 semapv:UnspecifiedMatching +GARD:17322 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 semapv:UnspecifiedMatching +GARD:17322 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency skos:narrowMatch OMIM:614105 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:exactMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:193000 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:610878 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:613674 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:614317 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:614318 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:614319 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:615390 semapv:UnspecifiedMatching +GARD:17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:615963 semapv:UnspecifiedMatching +GARD:17324 Early-onset myopathy with fatal cardiomyopathy skos:exactMatch Orphanet:289377 semapv:UnspecifiedMatching +GARD:17324 Early-onset myopathy with fatal cardiomyopathy skos:narrowMatch OMIM:611705 semapv:UnspecifiedMatching +GARD:17325 Myosclerosis skos:exactMatch Orphanet:289380 semapv:UnspecifiedMatching +GARD:17325 Myosclerosis skos:narrowMatch OMIM:255600 semapv:UnspecifiedMatching +GARD:17326 Intellectual disability-alacrima-achalasia syndrome skos:exactMatch Orphanet:289483 semapv:UnspecifiedMatching +GARD:17326 Intellectual disability-alacrima-achalasia syndrome skos:narrowMatch OMIM:300858 semapv:UnspecifiedMatching +GARD:17327 Congenital cataract microcornea with corneal opacity skos:exactMatch Orphanet:289499 semapv:UnspecifiedMatching +GARD:17327 Congenital cataract microcornea with corneal opacity skos:narrowMatch OMIM:269400 semapv:UnspecifiedMatching +GARD:17328 Dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch Orphanet:289553 semapv:UnspecifiedMatching +GARD:17328 Dysmorphism-conductive hearing loss-heart defect syndrome skos:narrowMatch OMIM:615102 semapv:UnspecifiedMatching +GARD:17329 Exfoliative ichthyosis skos:exactMatch Orphanet:289586 semapv:UnspecifiedMatching +GARD:17329 Exfoliative ichthyosis skos:narrowMatch OMIM:607936 semapv:UnspecifiedMatching +GARD:17329 Exfoliative ichthyosis skos:narrowMatch OMIM:617115 semapv:UnspecifiedMatching +GARD:17330 Glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch Orphanet:289846 semapv:UnspecifiedMatching +GARD:17330 Glutathione synthetase deficiency with 5-oxoprolinuria skos:narrowMatch OMIM:266130 semapv:UnspecifiedMatching +GARD:17331 Glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch Orphanet:289849 semapv:UnspecifiedMatching +GARD:17331 Glutathione synthetase deficiency without 5-oxoprolinuria skos:narrowMatch OMIM:231900 semapv:UnspecifiedMatching +GARD:17332 Neonatal glycine encephalopathy skos:exactMatch Orphanet:289857 semapv:UnspecifiedMatching +GARD:17332 Neonatal glycine encephalopathy skos:narrowMatch OMIM:605899 semapv:UnspecifiedMatching +GARD:17333 Infantile glycine encephalopathy skos:exactMatch Orphanet:289860 semapv:UnspecifiedMatching +GARD:17333 Infantile glycine encephalopathy skos:narrowMatch OMIM:605899 semapv:UnspecifiedMatching +GARD:17334 Atypical glycine encephalopathy skos:exactMatch Orphanet:289863 semapv:UnspecifiedMatching +GARD:17334 Atypical glycine encephalopathy skos:narrowMatch OMIM:605899 semapv:UnspecifiedMatching +GARD:17334 Atypical glycine encephalopathy skos:narrowMatch OMIM:617301 semapv:UnspecifiedMatching +GARD:17335 Vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:exactMatch Orphanet:289916 semapv:UnspecifiedMatching +GARD:17335 Vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:narrowMatch OMIM:251000 semapv:UnspecifiedMatching +GARD:17336 Familial clubfoot due to 5q31 microdeletion skos:exactMatch Orphanet:293144 semapv:UnspecifiedMatching +GARD:17336 Familial clubfoot due to 5q31 microdeletion skos:narrowMatch OMIM:119800 semapv:UnspecifiedMatching +GARD:17337 Familial clubfoot due to PITX1 point mutation skos:exactMatch Orphanet:293150 semapv:UnspecifiedMatching +GARD:17337 Familial clubfoot due to PITX1 point mutation skos:narrowMatch OMIM:119800 semapv:UnspecifiedMatching +GARD:17338 Epithelial recurrent erosion dystrophy skos:exactMatch Orphanet:293381 semapv:UnspecifiedMatching +GARD:17338 Epithelial recurrent erosion dystrophy skos:narrowMatch OMIM:122400 semapv:UnspecifiedMatching +GARD:17339 X-linked endothelial corneal dystrophy skos:exactMatch Orphanet:293621 semapv:UnspecifiedMatching +GARD:17339 X-linked endothelial corneal dystrophy skos:narrowMatch OMIM:300779 semapv:UnspecifiedMatching +GARD:17340 PYCR1-related De Barsy syndrome skos:exactMatch Orphanet:293633 semapv:UnspecifiedMatching +GARD:17340 PYCR1-related De Barsy syndrome skos:narrowMatch OMIM:614438 semapv:UnspecifiedMatching +GARD:17341 Blepharophimosis-intellectual disability syndrome, MKB type skos:exactMatch Orphanet:293707 semapv:UnspecifiedMatching +GARD:17341 Blepharophimosis-intellectual disability syndrome, MKB type skos:narrowMatch OMIM:300895 semapv:UnspecifiedMatching +GARD:17342 Blepharophimosis-intellectual disability syndrome, Verloes type skos:exactMatch Orphanet:293725 semapv:UnspecifiedMatching +GARD:17342 Blepharophimosis-intellectual disability syndrome, Verloes type skos:narrowMatch OMIM:604314 semapv:UnspecifiedMatching +GARD:17343 MITF-related melanoma and renal cell carcinoma predisposition syndrome skos:exactMatch Orphanet:293822 semapv:UnspecifiedMatching +GARD:17343 MITF-related melanoma and renal cell carcinoma predisposition syndrome skos:narrowMatch OMIM:614456 semapv:UnspecifiedMatching +GARD:17344 Congenital dyserythropoietic anemia type IV skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching +GARD:17344 Congenital dyserythropoietic anemia type IV skos:narrowMatch OMIM:613673 semapv:UnspecifiedMatching +GARD:17345 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:exactMatch Orphanet:293888 semapv:UnspecifiedMatching +GARD:17345 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +GARD:17345 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:narrowMatch OMIM:610193 semapv:UnspecifiedMatching +GARD:17346 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:exactMatch Orphanet:293899 semapv:UnspecifiedMatching +GARD:17346 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +GARD:17346 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:narrowMatch OMIM:610193 semapv:UnspecifiedMatching +GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching +GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:600996 semapv:UnspecifiedMatching +GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:610193 semapv:UnspecifiedMatching +GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:615616 semapv:UnspecifiedMatching +GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:618920 semapv:UnspecifiedMatching +GARD:17348 Lethal occipital encephalocele-skeletal dysplasia syndrome skos:exactMatch Orphanet:293925 semapv:UnspecifiedMatching +GARD:17348 Lethal occipital encephalocele-skeletal dysplasia syndrome skos:narrowMatch OMIM:614416 semapv:UnspecifiedMatching +GARD:17349 EDICT syndrome skos:exactMatch Orphanet:293936 semapv:UnspecifiedMatching +GARD:17349 EDICT syndrome skos:narrowMatch OMIM:614303 semapv:UnspecifiedMatching +GARD:17350 Distal Xq28 microduplication syndrome skos:exactMatch Orphanet:293939 semapv:UnspecifiedMatching +GARD:17350 Distal Xq28 microduplication syndrome skos:narrowMatch OMIM:300815 semapv:UnspecifiedMatching +GARD:17351 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:exactMatch Orphanet:293958 semapv:UnspecifiedMatching +GARD:17351 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:narrowMatch OMIM:614187 semapv:UnspecifiedMatching +GARD:17352 Hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch Orphanet:293964 semapv:UnspecifiedMatching +GARD:17352 Hypoinsulinemic hypoglycemia and body hemihypertrophy skos:narrowMatch OMIM:240900 semapv:UnspecifiedMatching +GARD:17353 Deficiency in anterior pituitary function-variable immunodeficiency syndrome skos:exactMatch Orphanet:293978 semapv:UnspecifiedMatching +GARD:17353 Deficiency in anterior pituitary function-variable immunodeficiency syndrome skos:narrowMatch OMIM:615577 semapv:UnspecifiedMatching +GARD:17354 Microcephaly-capillary malformation syndrome skos:exactMatch Orphanet:294016 semapv:UnspecifiedMatching +GARD:17354 Microcephaly-capillary malformation syndrome skos:narrowMatch OMIM:614261 semapv:UnspecifiedMatching +GARD:17355 Neonatal inflammatory skin and bowel disease skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching +GARD:17355 Neonatal inflammatory skin and bowel disease skos:narrowMatch OMIM:614328 semapv:UnspecifiedMatching +GARD:17355 Neonatal inflammatory skin and bowel disease skos:narrowMatch OMIM:616069 semapv:UnspecifiedMatching +GARD:17356 Renal-hepatic-pancreatic dysplasia skos:exactMatch Orphanet:294415 semapv:UnspecifiedMatching +GARD:17356 Renal-hepatic-pancreatic dysplasia skos:narrowMatch OMIM:208540 semapv:UnspecifiedMatching +GARD:17356 Renal-hepatic-pancreatic dysplasia skos:narrowMatch OMIM:615415 semapv:UnspecifiedMatching +GARD:17357 Zygodactyly type 1 skos:exactMatch Orphanet:295187 semapv:UnspecifiedMatching +GARD:17357 Zygodactyly type 1 skos:narrowMatch OMIM:609815 semapv:UnspecifiedMatching +GARD:17358 Synpolydactyly type 1 skos:exactMatch Orphanet:295195 semapv:UnspecifiedMatching +GARD:17358 Synpolydactyly type 1 skos:narrowMatch OMIM:186000 semapv:UnspecifiedMatching +GARD:17359 Synpolydactyly type 2 skos:exactMatch Orphanet:295197 semapv:UnspecifiedMatching +GARD:17359 Synpolydactyly type 2 skos:narrowMatch OMIM:608180 semapv:UnspecifiedMatching +GARD:17360 Synpolydactyly type 3 skos:exactMatch Orphanet:295199 semapv:UnspecifiedMatching +GARD:17360 Synpolydactyly type 3 skos:narrowMatch OMIM:610234 semapv:UnspecifiedMatching +GARD:17361 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency skos:exactMatch Orphanet:300179 semapv:UnspecifiedMatching +GARD:17361 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency skos:narrowMatch OMIM:614557 semapv:UnspecifiedMatching +GARD:17362 Connective tissue disorder due to lysyl hydroxylase-3 deficiency skos:exactMatch Orphanet:300284 semapv:UnspecifiedMatching +GARD:17362 Connective tissue disorder due to lysyl hydroxylase-3 deficiency skos:narrowMatch OMIM:612394 semapv:UnspecifiedMatching +GARD:17363 Transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch Orphanet:300293 semapv:UnspecifiedMatching +GARD:17363 Transient infantile hypertriglyceridemia and hepatosteatosis skos:narrowMatch OMIM:614480 semapv:UnspecifiedMatching +GARD:17364 Severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch Orphanet:300298 semapv:UnspecifiedMatching +GARD:17364 Severe congenital hypochromic anemia with ringed sideroblasts skos:narrowMatch OMIM:615234 semapv:UnspecifiedMatching +GARD:17365 Congenital cataract-hearing loss-severe developmental delay syndrome skos:exactMatch Orphanet:300313 semapv:UnspecifiedMatching +GARD:17365 Congenital cataract-hearing loss-severe developmental delay syndrome skos:narrowMatch OMIM:614482 semapv:UnspecifiedMatching +GARD:17366 Persistent polyclonal B-cell lymphocytosis skos:exactMatch Orphanet:300324 semapv:UnspecifiedMatching +GARD:17366 Persistent polyclonal B-cell lymphocytosis skos:narrowMatch OMIM:606445 semapv:UnspecifiedMatching +GARD:17367 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome skos:exactMatch Orphanet:300333 semapv:UnspecifiedMatching +GARD:17367 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome skos:narrowMatch OMIM:609057 semapv:UnspecifiedMatching +GARD:17368 Autosomal systemic lupus erythematosus skos:exactMatch Orphanet:300345 semapv:UnspecifiedMatching +GARD:17368 Autosomal systemic lupus erythematosus skos:narrowMatch OMIM:614420 semapv:UnspecifiedMatching +GARD:17369 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch Orphanet:300359 semapv:UnspecifiedMatching +GARD:17369 PLCG2-associated antibody deficiency and immune dysregulation skos:narrowMatch OMIM:614468 semapv:UnspecifiedMatching +GARD:17370 X-linked acrogigantism skos:exactMatch Orphanet:300373 semapv:UnspecifiedMatching +GARD:17370 X-linked acrogigantism skos:narrowMatch OMIM:300942 semapv:UnspecifiedMatching +GARD:17371 Progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch Orphanet:300382 semapv:UnspecifiedMatching +GARD:17371 Progeroid and marfanoid aspect-lipodystrophy syndrome skos:narrowMatch OMIM:616914 semapv:UnspecifiedMatching +GARD:17372 Pseudohypoaldosteronism type 2D skos:exactMatch Orphanet:300525 semapv:UnspecifiedMatching +GARD:17372 Pseudohypoaldosteronism type 2D skos:narrowMatch OMIM:614495 semapv:UnspecifiedMatching +GARD:17373 Pseudohypoaldosteronism type 2E skos:exactMatch Orphanet:300530 semapv:UnspecifiedMatching +GARD:17373 Pseudohypoaldosteronism type 2E skos:narrowMatch OMIM:614496 semapv:UnspecifiedMatching +GARD:17374 Autosomal recessive infantile hypercalcemia skos:exactMatch Orphanet:300547 semapv:UnspecifiedMatching +GARD:17374 Autosomal recessive infantile hypercalcemia skos:narrowMatch OMIM:143880 semapv:UnspecifiedMatching +GARD:17374 Autosomal recessive infantile hypercalcemia skos:narrowMatch OMIM:616963 semapv:UnspecifiedMatching +GARD:17375 Polymicrogyria due to TUBB2B mutation skos:exactMatch Orphanet:300573 semapv:UnspecifiedMatching +GARD:17375 Polymicrogyria due to TUBB2B mutation skos:narrowMatch OMIM:610031 semapv:UnspecifiedMatching +GARD:17376 Oligodontia-cancer predisposition syndrome skos:exactMatch Orphanet:300576 semapv:UnspecifiedMatching +GARD:17376 Oligodontia-cancer predisposition syndrome skos:narrowMatch OMIM:608615 semapv:UnspecifiedMatching +GARD:17377 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome skos:exactMatch Orphanet:306504 semapv:UnspecifiedMatching +GARD:17377 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome skos:narrowMatch OMIM:614748 semapv:UnspecifiedMatching +GARD:17378 Autosomal recessive spastic paraplegia type 48 skos:exactMatch Orphanet:306511 semapv:UnspecifiedMatching +GARD:17378 Autosomal recessive spastic paraplegia type 48 skos:narrowMatch OMIM:613647 semapv:UnspecifiedMatching +GARD:17379 Congenital hereditary facial paralysis-variable hearing loss syndrome skos:exactMatch Orphanet:306530 semapv:UnspecifiedMatching +GARD:17379 Congenital hereditary facial paralysis-variable hearing loss syndrome skos:narrowMatch OMIM:604185 semapv:UnspecifiedMatching +GARD:17379 Congenital hereditary facial paralysis-variable hearing loss syndrome skos:narrowMatch OMIM:614744 semapv:UnspecifiedMatching +GARD:17380 Porencephaly-microcephaly-bilateral congenital cataract syndrome skos:exactMatch Orphanet:306547 semapv:UnspecifiedMatching +GARD:17380 Porencephaly-microcephaly-bilateral congenital cataract syndrome skos:narrowMatch OMIM:613730 semapv:UnspecifiedMatching +GARD:17381 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:exactMatch Orphanet:306558 semapv:UnspecifiedMatching +GARD:17381 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:narrowMatch OMIM:614231 semapv:UnspecifiedMatching +GARD:17381 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:narrowMatch OMIM:619278 semapv:UnspecifiedMatching +GARD:17382 Sodium channelopathy-related small fiber neuropathy skos:exactMatch Orphanet:306577 semapv:UnspecifiedMatching +GARD:17382 Sodium channelopathy-related small fiber neuropathy skos:narrowMatch OMIM:133020 semapv:UnspecifiedMatching +GARD:17382 Sodium channelopathy-related small fiber neuropathy skos:narrowMatch OMIM:615551 semapv:UnspecifiedMatching +GARD:17383 Primary dystonia, DYT21 type skos:exactMatch Orphanet:306734 semapv:UnspecifiedMatching +GARD:17383 Primary dystonia, DYT21 type skos:narrowMatch OMIM:614588 semapv:UnspecifiedMatching +GARD:17384 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:307936 semapv:UnspecifiedMatching +GARD:17384 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:narrowMatch OMIM:607658 semapv:UnspecifiedMatching +GARD:17385 Methylcobalamin deficiency type cblDv1 skos:exactMatch Orphanet:308380 semapv:UnspecifiedMatching +GARD:17385 Methylcobalamin deficiency type cblDv1 skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +GARD:17386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch Orphanet:308386 semapv:UnspecifiedMatching +GARD:17386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:narrowMatch OMIM:252150 semapv:UnspecifiedMatching +GARD:17387 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch Orphanet:308393 semapv:UnspecifiedMatching +GARD:17387 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:narrowMatch OMIM:252160 semapv:UnspecifiedMatching +GARD:17388 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch Orphanet:308400 semapv:UnspecifiedMatching +GARD:17388 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:narrowMatch OMIM:615501 semapv:UnspecifiedMatching +GARD:17389 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency skos:exactMatch Orphanet:308410 semapv:UnspecifiedMatching +GARD:17389 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency skos:narrowMatch OMIM:614923 semapv:UnspecifiedMatching +GARD:17390 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch Orphanet:308425 semapv:UnspecifiedMatching +GARD:17390 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:narrowMatch OMIM:251120 semapv:UnspecifiedMatching +GARD:17391 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:exactMatch Orphanet:308442 semapv:UnspecifiedMatching +GARD:17391 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +GARD:17392 Erythrocyte galactose epimerase deficiency skos:exactMatch Orphanet:308473 semapv:UnspecifiedMatching +GARD:17392 Erythrocyte galactose epimerase deficiency skos:narrowMatch OMIM:230350 semapv:UnspecifiedMatching +GARD:17393 Generalized galactose epimerase deficiency skos:exactMatch Orphanet:308487 semapv:UnspecifiedMatching +GARD:17393 Generalized galactose epimerase deficiency skos:narrowMatch OMIM:230350 semapv:UnspecifiedMatching +GARD:17394 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch Orphanet:308621 semapv:UnspecifiedMatching +GARD:17394 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +GARD:17395 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch Orphanet:308638 semapv:UnspecifiedMatching +GARD:17395 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +GARD:17396 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch Orphanet:308655 semapv:UnspecifiedMatching +GARD:17396 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +GARD:17397 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:exactMatch Orphanet:308670 semapv:UnspecifiedMatching +GARD:17397 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +GARD:17398 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch Orphanet:308684 semapv:UnspecifiedMatching +GARD:17398 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +GARD:17399 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:exactMatch Orphanet:308698 semapv:UnspecifiedMatching +GARD:17399 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +GARD:17400 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:exactMatch Orphanet:308712 semapv:UnspecifiedMatching +GARD:17400 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +GARD:17401 Pancreatic triacylglycerol lipase deficiency skos:exactMatch Orphanet:309031 semapv:UnspecifiedMatching +GARD:17401 Pancreatic triacylglycerol lipase deficiency skos:narrowMatch OMIM:614338 semapv:UnspecifiedMatching +GARD:17402 Pancreatic colipase deficiency skos:exactMatch Orphanet:309108 semapv:UnspecifiedMatching +GARD:17402 Pancreatic colipase deficiency skos:narrowMatch OMIM:614338 semapv:UnspecifiedMatching +GARD:17403 Combined pancreatic lipase-colipase deficiency skos:exactMatch Orphanet:309111 semapv:UnspecifiedMatching +GARD:17403 Combined pancreatic lipase-colipase deficiency skos:narrowMatch OMIM:614338 semapv:UnspecifiedMatching +GARD:17404 Sandhoff disease, juvenile form skos:exactMatch Orphanet:309162 semapv:UnspecifiedMatching +GARD:17404 Sandhoff disease, juvenile form skos:narrowMatch OMIM:268800 semapv:UnspecifiedMatching +GARD:17405 Sandhoff disease, adult form skos:exactMatch Orphanet:309169 semapv:UnspecifiedMatching +GARD:17405 Sandhoff disease, adult form skos:narrowMatch OMIM:268800 semapv:UnspecifiedMatching +GARD:17406 GM2 gangliosidosis, AB variant skos:exactMatch Orphanet:309246 semapv:UnspecifiedMatching +GARD:17406 GM2 gangliosidosis, AB variant skos:narrowMatch OMIM:272750 semapv:UnspecifiedMatching +GARD:17407 Alpha-mannosidosis, infantile form skos:exactMatch Orphanet:309282 semapv:UnspecifiedMatching +GARD:17407 Alpha-mannosidosis, infantile form skos:narrowMatch OMIM:248500 semapv:UnspecifiedMatching +GARD:17408 Alpha-mannosidosis, adult form skos:exactMatch Orphanet:309288 semapv:UnspecifiedMatching +GARD:17408 Alpha-mannosidosis, adult form skos:narrowMatch OMIM:248500 semapv:UnspecifiedMatching +GARD:17409 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome skos:exactMatch Orphanet:313772 semapv:UnspecifiedMatching +GARD:17409 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome skos:narrowMatch OMIM:614487 semapv:UnspecifiedMatching +GARD:17410 Jawad syndrome skos:exactMatch Orphanet:313795 semapv:UnspecifiedMatching +GARD:17410 Jawad syndrome skos:narrowMatch OMIM:251255 semapv:UnspecifiedMatching +GARD:17411 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome skos:exactMatch Orphanet:313800 semapv:UnspecifiedMatching +GARD:17411 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome skos:narrowMatch OMIM:614979 semapv:UnspecifiedMatching +GARD:17412 Coats plus syndrome skos:exactMatch Orphanet:313838 semapv:UnspecifiedMatching +GARD:17412 Coats plus syndrome skos:narrowMatch OMIM:612199 semapv:UnspecifiedMatching +GARD:17412 Coats plus syndrome skos:narrowMatch OMIM:617341 semapv:UnspecifiedMatching +GARD:17413 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome skos:exactMatch Orphanet:313846 semapv:UnspecifiedMatching +GARD:17413 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome skos:narrowMatch OMIM:614564 semapv:UnspecifiedMatching +GARD:17414 12p12.1 microdeletion syndrome skos:exactMatch Orphanet:313884 semapv:UnspecifiedMatching +GARD:17414 12p12.1 microdeletion syndrome skos:narrowMatch OMIM:616803 semapv:UnspecifiedMatching +GARD:17415 Developmental and speech delay due to SOX5 deficiency skos:exactMatch Orphanet:313892 semapv:UnspecifiedMatching +GARD:17415 Developmental and speech delay due to SOX5 deficiency skos:narrowMatch OMIM:616803 semapv:UnspecifiedMatching +GARD:17416 Gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch Orphanet:314022 semapv:UnspecifiedMatching +GARD:17416 Gastric adenocarcinoma and proximal polyposis of the stomach skos:narrowMatch OMIM:619182 semapv:UnspecifiedMatching +GARD:17417 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity skos:exactMatch Orphanet:314373 semapv:UnspecifiedMatching +GARD:17417 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity skos:narrowMatch OMIM:614616 semapv:UnspecifiedMatching +GARD:17418 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch Orphanet:314376 semapv:UnspecifiedMatching +GARD:17418 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:narrowMatch OMIM:614665 semapv:UnspecifiedMatching +GARD:17419 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch Orphanet:314394 semapv:UnspecifiedMatching +GARD:17419 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:narrowMatch OMIM:614813 semapv:UnspecifiedMatching +GARD:17420 Autosomal dominant aplasia and myelodysplasia skos:exactMatch Orphanet:314399 semapv:UnspecifiedMatching +GARD:17420 Autosomal dominant aplasia and myelodysplasia skos:narrowMatch OMIM:614675 semapv:UnspecifiedMatching +GARD:17421 Young adult-onset distal hereditary motor neuropathy skos:exactMatch Orphanet:314485 semapv:UnspecifiedMatching +GARD:17421 Young adult-onset distal hereditary motor neuropathy skos:narrowMatch OMIM:614881 semapv:UnspecifiedMatching +GARD:17421 Young adult-onset distal hereditary motor neuropathy skos:narrowMatch OMIM:619216 semapv:UnspecifiedMatching +GARD:17422 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome skos:exactMatch Orphanet:314555 semapv:UnspecifiedMatching +GARD:17422 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome skos:narrowMatch OMIM:611174 semapv:UnspecifiedMatching +GARD:17423 15q overgrowth syndrome skos:exactMatch Orphanet:314585 semapv:UnspecifiedMatching +GARD:17423 15q overgrowth syndrome skos:narrowMatch OMIM:614846 semapv:UnspecifiedMatching +GARD:17424 Distal tetrasomy 15q skos:exactMatch Orphanet:314588 semapv:UnspecifiedMatching +GARD:17424 Distal tetrasomy 15q skos:narrowMatch OMIM:614846 semapv:UnspecifiedMatching +GARD:17425 Autosomal recessive spastic ataxia with leukoencephalopathy skos:exactMatch Orphanet:314603 semapv:UnspecifiedMatching +GARD:17425 Autosomal recessive spastic ataxia with leukoencephalopathy skos:narrowMatch OMIM:611390 semapv:UnspecifiedMatching +GARD:17426 CLN11 disease skos:exactMatch Orphanet:314629 semapv:UnspecifiedMatching +GARD:17426 CLN11 disease skos:narrowMatch OMIM:614706 semapv:UnspecifiedMatching +GARD:17427 ATP13A2-related juvenile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:314632 semapv:UnspecifiedMatching +GARD:17427 ATP13A2-related juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:606693 semapv:UnspecifiedMatching +GARD:17428 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch Orphanet:314637 semapv:UnspecifiedMatching +GARD:17428 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:narrowMatch OMIM:614702 semapv:UnspecifiedMatching +GARD:17429 Non-progressive cerebellar ataxia with intellectual disability skos:exactMatch Orphanet:314647 semapv:UnspecifiedMatching +GARD:17429 Non-progressive cerebellar ataxia with intellectual disability skos:narrowMatch OMIM:614756 semapv:UnspecifiedMatching +GARD:17430 Combined immunodeficiency due to STK4 deficiency skos:exactMatch Orphanet:314689 semapv:UnspecifiedMatching +GARD:17430 Combined immunodeficiency due to STK4 deficiency skos:narrowMatch OMIM:614868 semapv:UnspecifiedMatching +GARD:17431 Primary systemic amyloidosis skos:exactMatch Orphanet:314701 semapv:UnspecifiedMatching +GARD:17431 Primary systemic amyloidosis skos:narrowMatch OMIM:254500 semapv:UnspecifiedMatching +GARD:17432 Lethal arteriopathy syndrome due to fibulin-4 deficiency skos:exactMatch Orphanet:314718 semapv:UnspecifiedMatching +GARD:17432 Lethal arteriopathy syndrome due to fibulin-4 deficiency skos:narrowMatch OMIM:614437 semapv:UnspecifiedMatching +GARD:17433 Atypical dentin dysplasia due to SMOC2 deficiency skos:exactMatch Orphanet:314721 semapv:UnspecifiedMatching +GARD:17433 Atypical dentin dysplasia due to SMOC2 deficiency skos:narrowMatch OMIM:125400 semapv:UnspecifiedMatching +GARD:17434 SHOX-related short stature skos:exactMatch Orphanet:314795 semapv:UnspecifiedMatching +GARD:17434 SHOX-related short stature skos:narrowMatch OMIM:300582 semapv:UnspecifiedMatching +GARD:17435 Short stature due to partial GHR deficiency skos:exactMatch Orphanet:314802 semapv:UnspecifiedMatching +GARD:17435 Short stature due to partial GHR deficiency skos:narrowMatch OMIM:604271 semapv:UnspecifiedMatching +GARD:17436 Short stature due to GHSR deficiency skos:exactMatch Orphanet:314811 semapv:UnspecifiedMatching +GARD:17436 Short stature due to GHSR deficiency skos:narrowMatch OMIM:615925 semapv:UnspecifiedMatching +GARD:17437 Severe Canavan disease skos:exactMatch Orphanet:314911 semapv:UnspecifiedMatching +GARD:17437 Severe Canavan disease skos:narrowMatch OMIM:271900 semapv:UnspecifiedMatching +GARD:17438 Mild Canavan disease skos:exactMatch Orphanet:314918 semapv:UnspecifiedMatching +GARD:17438 Mild Canavan disease skos:narrowMatch OMIM:271900 semapv:UnspecifiedMatching +GARD:17439 X-linked non progressive cerebellar ataxia skos:exactMatch Orphanet:314978 semapv:UnspecifiedMatching +GARD:17439 X-linked non progressive cerebellar ataxia skos:narrowMatch OMIM:300703 semapv:UnspecifiedMatching +GARD:17440 Cataract-congenital heart disease-neural tube defect syndrome skos:exactMatch Orphanet:314993 semapv:UnspecifiedMatching +GARD:17440 Cataract-congenital heart disease-neural tube defect syndrome skos:narrowMatch OMIM:608227 semapv:UnspecifiedMatching +GARD:17441 Severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch Orphanet:317425 semapv:UnspecifiedMatching +GARD:17441 Severe combined immunodeficiency due to DNA-PKcs deficiency skos:narrowMatch OMIM:615966 semapv:UnspecifiedMatching +GARD:17442 Pancytopenia due to IKZF1 mutations skos:exactMatch Orphanet:317473 semapv:UnspecifiedMatching +GARD:17442 Pancytopenia due to IKZF1 mutations skos:narrowMatch OMIM:616873 semapv:UnspecifiedMatching +GARD:17443 Congenital myopathy with internal nuclei and atypical cores skos:exactMatch Orphanet:319160 semapv:UnspecifiedMatching +GARD:17443 Congenital myopathy with internal nuclei and atypical cores skos:narrowMatch OMIM:614807 semapv:UnspecifiedMatching +GARD:17444 Familial cortical myoclonus skos:exactMatch Orphanet:319189 semapv:UnspecifiedMatching +GARD:17444 Familial cortical myoclonus skos:narrowMatch OMIM:614937 semapv:UnspecifiedMatching +GARD:17445 Autosomal recessive spastic paraplegia type 53 skos:exactMatch Orphanet:319199 semapv:UnspecifiedMatching +GARD:17445 Autosomal recessive spastic paraplegia type 53 skos:narrowMatch OMIM:614898 semapv:UnspecifiedMatching +GARD:17446 MiT family translocation renal cell carcinoma skos:exactMatch Orphanet:319308 semapv:UnspecifiedMatching +GARD:17446 MiT family translocation renal cell carcinoma skos:narrowMatch OMIM:300854 semapv:UnspecifiedMatching +GARD:17447 Autosomal recessive myogenic arthrogryposis multiplex congenita skos:exactMatch Orphanet:319332 semapv:UnspecifiedMatching +GARD:17447 Autosomal recessive myogenic arthrogryposis multiplex congenita skos:narrowMatch OMIM:618484 semapv:UnspecifiedMatching +GARD:17448 Carney complex-trismus-pseudocamptodactyly syndrome skos:exactMatch Orphanet:319340 semapv:UnspecifiedMatching +GARD:17448 Carney complex-trismus-pseudocamptodactyly syndrome skos:narrowMatch OMIM:608837 semapv:UnspecifiedMatching +GARD:17449 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations skos:exactMatch Orphanet:319462 semapv:UnspecifiedMatching +GARD:17449 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations skos:narrowMatch OMIM:605724 semapv:UnspecifiedMatching +GARD:17450 Inherited acute myeloid leukemia skos:exactMatch Orphanet:319465 semapv:UnspecifiedMatching +GARD:17450 Inherited acute myeloid leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:17451 Acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch Orphanet:319480 semapv:UnspecifiedMatching +GARD:17451 Acute myeloid leukemia with CEBPA somatic mutations skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:17452 Combined oxidative phosphorylation defect type 8 skos:exactMatch Orphanet:319504 semapv:UnspecifiedMatching +GARD:17452 Combined oxidative phosphorylation defect type 8 skos:narrowMatch OMIM:614096 semapv:UnspecifiedMatching +GARD:17453 Combined oxidative phosphorylation defect type 9 skos:exactMatch Orphanet:319509 semapv:UnspecifiedMatching +GARD:17453 Combined oxidative phosphorylation defect type 9 skos:narrowMatch OMIM:614582 semapv:UnspecifiedMatching +GARD:17454 Combined oxidative phosphorylation defect type 13 skos:exactMatch Orphanet:319514 semapv:UnspecifiedMatching +GARD:17454 Combined oxidative phosphorylation defect type 13 skos:narrowMatch OMIM:614932 semapv:UnspecifiedMatching +GARD:17455 Combined oxidative phosphorylation defect type 14 skos:exactMatch Orphanet:319519 semapv:UnspecifiedMatching +GARD:17455 Combined oxidative phosphorylation defect type 14 skos:narrowMatch OMIM:614946 semapv:UnspecifiedMatching +GARD:17456 Combined oxidative phosphorylation defect type 15 skos:exactMatch Orphanet:319524 semapv:UnspecifiedMatching +GARD:17456 Combined oxidative phosphorylation defect type 15 skos:narrowMatch OMIM:614947 semapv:UnspecifiedMatching +GARD:17457 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch Orphanet:319547 semapv:UnspecifiedMatching +GARD:17457 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:narrowMatch OMIM:614889 semapv:UnspecifiedMatching +GARD:17458 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch Orphanet:319563 semapv:UnspecifiedMatching +GARD:17458 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:narrowMatch OMIM:616126 semapv:UnspecifiedMatching +GARD:17459 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch Orphanet:319569 semapv:UnspecifiedMatching +GARD:17459 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:narrowMatch OMIM:209950 semapv:UnspecifiedMatching +GARD:17460 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch Orphanet:319574 semapv:UnspecifiedMatching +GARD:17460 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:narrowMatch OMIM:614889 semapv:UnspecifiedMatching +GARD:17461 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch Orphanet:319581 semapv:UnspecifiedMatching +GARD:17461 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:narrowMatch OMIM:615978 semapv:UnspecifiedMatching +GARD:17462 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch Orphanet:319595 semapv:UnspecifiedMatching +GARD:17462 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:narrowMatch OMIM:614892 semapv:UnspecifiedMatching +GARD:17463 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch Orphanet:319600 semapv:UnspecifiedMatching +GARD:17463 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:narrowMatch OMIM:614893 semapv:UnspecifiedMatching +GARD:17464 X-linked mendelian susceptibility to mycobacterial diseases skos:exactMatch Orphanet:319605 semapv:UnspecifiedMatching +GARD:17464 X-linked mendelian susceptibility to mycobacterial diseases skos:narrowMatch OMIM:300636 semapv:UnspecifiedMatching +GARD:17464 X-linked mendelian susceptibility to mycobacterial diseases skos:narrowMatch OMIM:300645 semapv:UnspecifiedMatching +GARD:17465 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch Orphanet:319623 semapv:UnspecifiedMatching +GARD:17465 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:narrowMatch OMIM:300645 semapv:UnspecifiedMatching +GARD:17466 Amyloidosis cutis dyschromia skos:exactMatch Orphanet:319635 semapv:UnspecifiedMatching +GARD:17466 Amyloidosis cutis dyschromia skos:narrowMatch OMIM:617920 semapv:UnspecifiedMatching +GARD:17467 Retinal macular dystrophy type 2 skos:exactMatch Orphanet:319640 semapv:UnspecifiedMatching +GARD:17467 Retinal macular dystrophy type 2 skos:narrowMatch OMIM:608051 semapv:UnspecifiedMatching +GARD:17468 Alazami syndrome skos:exactMatch Orphanet:319671 semapv:UnspecifiedMatching +GARD:17468 Alazami syndrome skos:narrowMatch OMIM:615071 semapv:UnspecifiedMatching +GARD:17469 Microcephalic primordial dwarfism, Dauber type skos:exactMatch Orphanet:319675 semapv:UnspecifiedMatching +GARD:17469 Microcephalic primordial dwarfism, Dauber type skos:narrowMatch OMIM:614851 semapv:UnspecifiedMatching +GARD:17470 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch Orphanet:319678 semapv:UnspecifiedMatching +GARD:17470 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:narrowMatch OMIM:614654 semapv:UnspecifiedMatching +GARD:17471 Autosomal dominant spastic paraplegia type 41 skos:exactMatch Orphanet:320355 semapv:UnspecifiedMatching +GARD:17471 Autosomal dominant spastic paraplegia type 41 skos:narrowMatch OMIM:613364 semapv:UnspecifiedMatching +GARD:17472 Autosomal dominant spastic paraplegia type 36 skos:exactMatch Orphanet:320365 semapv:UnspecifiedMatching +GARD:17472 Autosomal dominant spastic paraplegia type 36 skos:narrowMatch OMIM:613096 semapv:UnspecifiedMatching +GARD:17473 Autosomal recessive spastic paraplegia type 43 skos:exactMatch Orphanet:320370 semapv:UnspecifiedMatching +GARD:17473 Autosomal recessive spastic paraplegia type 43 skos:narrowMatch OMIM:615043 semapv:UnspecifiedMatching +GARD:17474 Autosomal recessive spastic paraplegia type 55 skos:exactMatch Orphanet:320375 semapv:UnspecifiedMatching +GARD:17474 Autosomal recessive spastic paraplegia type 55 skos:narrowMatch OMIM:615035 semapv:UnspecifiedMatching +GARD:17475 Autosomal recessive spastic paraplegia type 54 skos:exactMatch Orphanet:320380 semapv:UnspecifiedMatching +GARD:17475 Autosomal recessive spastic paraplegia type 54 skos:narrowMatch OMIM:615033 semapv:UnspecifiedMatching +GARD:17476 Autosomal recessive spastic paraplegia type 46 skos:exactMatch Orphanet:320391 semapv:UnspecifiedMatching +GARD:17476 Autosomal recessive spastic paraplegia type 46 skos:narrowMatch OMIM:614409 semapv:UnspecifiedMatching +GARD:17477 Autosomal recessive spastic paraplegia type 45 skos:exactMatch Orphanet:320396 semapv:UnspecifiedMatching +GARD:17477 Autosomal recessive spastic paraplegia type 45 skos:narrowMatch OMIM:613162 semapv:UnspecifiedMatching +GARD:17478 Autosomal recessive spastic paraplegia type 44 skos:exactMatch Orphanet:320401 semapv:UnspecifiedMatching +GARD:17478 Autosomal recessive spastic paraplegia type 44 skos:narrowMatch OMIM:613206 semapv:UnspecifiedMatching +GARD:17479 Spastic paraplegia-optic atrophy-neuropathy syndrome skos:exactMatch Orphanet:320406 semapv:UnspecifiedMatching +GARD:17479 Spastic paraplegia-optic atrophy-neuropathy syndrome skos:narrowMatch OMIM:609541 semapv:UnspecifiedMatching +GARD:17480 Autosomal recessive spastic paraplegia type 56 skos:exactMatch Orphanet:320411 semapv:UnspecifiedMatching +GARD:17480 Autosomal recessive spastic paraplegia type 56 skos:narrowMatch OMIM:615030 semapv:UnspecifiedMatching +GARD:17481 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency skos:exactMatch Orphanet:324262 semapv:UnspecifiedMatching +GARD:17481 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency skos:narrowMatch OMIM:614831 semapv:UnspecifiedMatching +GARD:17482 Early-onset Lafora body disease skos:exactMatch Orphanet:324290 semapv:UnspecifiedMatching +GARD:17482 Early-onset Lafora body disease skos:narrowMatch OMIM:616640 semapv:UnspecifiedMatching +GARD:17483 T-cell immunodeficiency with epidermodysplasia verruciformis skos:exactMatch Orphanet:324294 semapv:UnspecifiedMatching +GARD:17483 T-cell immunodeficiency with epidermodysplasia verruciformis skos:narrowMatch OMIM:618307 semapv:UnspecifiedMatching +GARD:17484 Sinoatrial node dysfunction and deafness skos:exactMatch Orphanet:324321 semapv:UnspecifiedMatching +GARD:17484 Sinoatrial node dysfunction and deafness skos:narrowMatch OMIM:614896 semapv:UnspecifiedMatching +GARD:17485 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch Orphanet:324410 semapv:UnspecifiedMatching +GARD:17485 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:narrowMatch OMIM:300886 semapv:UnspecifiedMatching +GARD:17486 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch Orphanet:324530 semapv:UnspecifiedMatching +GARD:17486 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:narrowMatch OMIM:614878 semapv:UnspecifiedMatching +GARD:17487 Combined oxidative phosphorylation defect type 11 skos:exactMatch Orphanet:324535 semapv:UnspecifiedMatching +GARD:17487 Combined oxidative phosphorylation defect type 11 skos:narrowMatch OMIM:614922 semapv:UnspecifiedMatching +GARD:17488 Pontocerebellar hypoplasia type 8 skos:exactMatch Orphanet:324569 semapv:UnspecifiedMatching +GARD:17488 Pontocerebellar hypoplasia type 8 skos:narrowMatch OMIM:614961 semapv:UnspecifiedMatching +GARD:17489 ABetaL34V amyloidosis skos:exactMatch Orphanet:324703 semapv:UnspecifiedMatching +GARD:17489 ABetaL34V amyloidosis skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +GARD:17490 ABeta amyloidosis, Iowa type skos:exactMatch Orphanet:324708 semapv:UnspecifiedMatching +GARD:17490 ABeta amyloidosis, Iowa type skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +GARD:17491 ABeta amyloidosis, Italian type skos:exactMatch Orphanet:324713 semapv:UnspecifiedMatching +GARD:17491 ABeta amyloidosis, Italian type skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +GARD:17492 ABetaA21G amyloidosis skos:exactMatch Orphanet:324718 semapv:UnspecifiedMatching +GARD:17492 ABetaA21G amyloidosis skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +GARD:17493 ABeta amyloidosis, Arctic type skos:exactMatch Orphanet:324723 semapv:UnspecifiedMatching +GARD:17493 ABeta amyloidosis, Arctic type skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +GARD:17494 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:exactMatch Orphanet:329173 semapv:UnspecifiedMatching +GARD:17494 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:narrowMatch OMIM:615895 semapv:UnspecifiedMatching +GARD:17495 Tall stature-long halluces-multiple extra-epiphyses syndrome skos:exactMatch Orphanet:329191 semapv:UnspecifiedMatching +GARD:17495 Tall stature-long halluces-multiple extra-epiphyses syndrome skos:narrowMatch OMIM:615923 semapv:UnspecifiedMatching +GARD:17496 Developmental delay with autism spectrum disorder and gait instability skos:exactMatch Orphanet:329195 semapv:UnspecifiedMatching +GARD:17496 Developmental delay with autism spectrum disorder and gait instability skos:narrowMatch OMIM:615516 semapv:UnspecifiedMatching +GARD:17497 Autosomal dominant neovascular inflammatory vitreoretinopathy skos:exactMatch Orphanet:329211 semapv:UnspecifiedMatching +GARD:17497 Autosomal dominant neovascular inflammatory vitreoretinopathy skos:narrowMatch OMIM:193235 semapv:UnspecifiedMatching +GARD:17498 Microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch Orphanet:329228 semapv:UnspecifiedMatching +GARD:17498 Microcephalic primordial dwarfism due to ZNF335 deficiency skos:narrowMatch OMIM:615095 semapv:UnspecifiedMatching +GARD:17499 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch Orphanet:329235 semapv:UnspecifiedMatching +GARD:17499 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:narrowMatch OMIM:300888 semapv:UnspecifiedMatching +GARD:175 Free sialic acid storage disease, infantile form skos:exactMatch Orphanet:309324 semapv:UnspecifiedMatching +GARD:175 Free sialic acid storage disease, infantile form skos:narrowMatch OMIM:269920 semapv:UnspecifiedMatching +GARD:17500 Congenital chronic diarrhea with protein-losing enteropathy skos:exactMatch Orphanet:329242 semapv:UnspecifiedMatching +GARD:17500 Congenital chronic diarrhea with protein-losing enteropathy skos:narrowMatch OMIM:615863 semapv:UnspecifiedMatching +GARD:17500 Congenital chronic diarrhea with protein-losing enteropathy skos:narrowMatch OMIM:618183 semapv:UnspecifiedMatching +GARD:17501 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:exactMatch Orphanet:329314 semapv:UnspecifiedMatching +GARD:17501 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:narrowMatch OMIM:617070 semapv:UnspecifiedMatching +GARD:17502 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:exactMatch Orphanet:329332 semapv:UnspecifiedMatching +GARD:17502 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:narrowMatch OMIM:614407 semapv:UnspecifiedMatching +GARD:17503 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:exactMatch Orphanet:329336 semapv:UnspecifiedMatching +GARD:17503 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:narrowMatch OMIM:616479 semapv:UnspecifiedMatching +GARD:17504 Lipoprotein glomerulopathy skos:exactMatch Orphanet:329481 semapv:UnspecifiedMatching +GARD:17504 Lipoprotein glomerulopathy skos:narrowMatch OMIM:611771 semapv:UnspecifiedMatching +GARD:17505 5p13 microduplication syndrome skos:exactMatch Orphanet:329802 semapv:UnspecifiedMatching +GARD:17505 5p13 microduplication syndrome skos:narrowMatch OMIM:613174 semapv:UnspecifiedMatching +GARD:17506 Immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329903 semapv:UnspecifiedMatching +GARD:17506 Immunoglobulin-mediated membranoproliferative glomerulonephritis skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +GARD:17507 C3 glomerulopathy skos:exactMatch Orphanet:329918 semapv:UnspecifiedMatching +GARD:17507 C3 glomerulopathy skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +GARD:17507 C3 glomerulopathy skos:narrowMatch OMIM:614809 semapv:UnspecifiedMatching +GARD:17508 Generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch Orphanet:329971 semapv:UnspecifiedMatching +GARD:17508 Generalized juvenile polyposis/juvenile polyposis coli skos:narrowMatch OMIM:174900 semapv:UnspecifiedMatching +GARD:17508 Generalized juvenile polyposis/juvenile polyposis coli skos:narrowMatch OMIM:175050 semapv:UnspecifiedMatching +GARD:17509 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch Orphanet:330050 semapv:UnspecifiedMatching +GARD:17509 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect skos:narrowMatch OMIM:614388 semapv:UnspecifiedMatching +GARD:17510 Actinic prurigo skos:exactMatch Orphanet:330061 semapv:UnspecifiedMatching +GARD:17510 Actinic prurigo skos:narrowMatch OMIM:174770 semapv:UnspecifiedMatching +GARD:17511 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch Orphanet:331176 semapv:UnspecifiedMatching +GARD:17511 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:narrowMatch OMIM:612541 semapv:UnspecifiedMatching +GARD:17512 Immunodeficiency due to MASP-2 deficiency skos:exactMatch Orphanet:331187 semapv:UnspecifiedMatching +GARD:17512 Immunodeficiency due to MASP-2 deficiency skos:narrowMatch OMIM:613791 semapv:UnspecifiedMatching +GARD:17513 Immunodeficiency due to ficolin3 deficiency skos:exactMatch Orphanet:331190 semapv:UnspecifiedMatching +GARD:17513 Immunodeficiency due to ficolin3 deficiency skos:narrowMatch OMIM:613860 semapv:UnspecifiedMatching +GARD:17514 Susceptibility to infection due to TYK2 deficiency skos:exactMatch Orphanet:331226 semapv:UnspecifiedMatching +GARD:17514 Susceptibility to infection due to TYK2 deficiency skos:narrowMatch OMIM:611521 semapv:UnspecifiedMatching +GARD:17515 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch Orphanet:352333 semapv:UnspecifiedMatching +GARD:17515 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:narrowMatch OMIM:614457 semapv:UnspecifiedMatching +GARD:17516 Spectrin-associated autosomal recessive cerebellar ataxia skos:exactMatch Orphanet:352403 semapv:UnspecifiedMatching +GARD:17516 Spectrin-associated autosomal recessive cerebellar ataxia skos:narrowMatch OMIM:615386 semapv:UnspecifiedMatching +GARD:17517 Progressive external ophthalmoplegia-myopathy-emaciation syndrome skos:exactMatch Orphanet:352447 semapv:UnspecifiedMatching +GARD:17517 Progressive external ophthalmoplegia-myopathy-emaciation syndrome skos:narrowMatch OMIM:615084 semapv:UnspecifiedMatching +GARD:17518 DNA2-related mitochondrial DNA deletion syndrome skos:exactMatch Orphanet:352470 semapv:UnspecifiedMatching +GARD:17518 DNA2-related mitochondrial DNA deletion syndrome skos:narrowMatch OMIM:615156 semapv:UnspecifiedMatching +GARD:17519 ISPD-related limb-girdle muscular dystrophy R20 skos:exactMatch Orphanet:352479 semapv:UnspecifiedMatching +GARD:17519 ISPD-related limb-girdle muscular dystrophy R20 skos:narrowMatch OMIM:616052 semapv:UnspecifiedMatching +GARD:17520 Autism spectrum disorder due to AUTS2 deficiency skos:exactMatch Orphanet:352490 semapv:UnspecifiedMatching +GARD:17520 Autism spectrum disorder due to AUTS2 deficiency skos:narrowMatch OMIM:615834 semapv:UnspecifiedMatching +GARD:17521 Familial infantile myoclonic epilepsy skos:exactMatch Orphanet:352582 semapv:UnspecifiedMatching +GARD:17521 Familial infantile myoclonic epilepsy skos:narrowMatch OMIM:605021 semapv:UnspecifiedMatching +GARD:17522 Progressive myoclonic epilepsy with dystonia skos:exactMatch Orphanet:352596 semapv:UnspecifiedMatching +GARD:17522 Progressive myoclonic epilepsy with dystonia skos:narrowMatch OMIM:615338 semapv:UnspecifiedMatching +GARD:17523 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch Orphanet:352654 semapv:UnspecifiedMatching +GARD:17523 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:narrowMatch OMIM:615491 semapv:UnspecifiedMatching +GARD:17524 Hereditary benign intraepithelial dyskeratosis skos:exactMatch Orphanet:352657 semapv:UnspecifiedMatching +GARD:17524 Hereditary benign intraepithelial dyskeratosis skos:narrowMatch OMIM:127600 semapv:UnspecifiedMatching +GARD:17525 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch Orphanet:352662 semapv:UnspecifiedMatching +GARD:17525 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:narrowMatch OMIM:615225 semapv:UnspecifiedMatching +GARD:17526 Cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch Orphanet:352682 semapv:UnspecifiedMatching +GARD:17526 Cobblestone lissencephaly without muscular or ocular involvement skos:narrowMatch OMIM:615191 semapv:UnspecifiedMatching +GARD:17527 CLN13 disease skos:exactMatch Orphanet:352709 semapv:UnspecifiedMatching +GARD:17527 CLN13 disease skos:narrowMatch OMIM:615362 semapv:UnspecifiedMatching +GARD:17528 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch Orphanet:352712 semapv:UnspecifiedMatching +GARD:17528 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:narrowMatch OMIM:615139 semapv:UnspecifiedMatching +GARD:17529 Progressive retinal dystrophy due to retinol transport defect skos:exactMatch Orphanet:352718 semapv:UnspecifiedMatching +GARD:17529 Progressive retinal dystrophy due to retinol transport defect skos:narrowMatch OMIM:615147 semapv:UnspecifiedMatching +GARD:17530 Temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch Orphanet:352737 semapv:UnspecifiedMatching +GARD:17530 Temperature-sensitive oculocutaneous albinism type 1 skos:narrowMatch OMIM:606952 semapv:UnspecifiedMatching +GARD:17531 Oculocutaneous albinism type 7 skos:exactMatch Orphanet:352745 semapv:UnspecifiedMatching +GARD:17531 Oculocutaneous albinism type 7 skos:narrowMatch OMIM:615179 semapv:UnspecifiedMatching +GARD:17532 Epileptic encephalopathy with global cerebral demyelination skos:exactMatch Orphanet:353217 semapv:UnspecifiedMatching +GARD:17532 Epileptic encephalopathy with global cerebral demyelination skos:narrowMatch OMIM:612949 semapv:UnspecifiedMatching +GARD:17533 Familial primary localized cutaneous amyloidosis skos:exactMatch Orphanet:353220 semapv:UnspecifiedMatching +GARD:17533 Familial primary localized cutaneous amyloidosis skos:narrowMatch OMIM:105250 semapv:UnspecifiedMatching +GARD:17533 Familial primary localized cutaneous amyloidosis skos:narrowMatch OMIM:613955 semapv:UnspecifiedMatching +GARD:17534 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch Orphanet:353277 semapv:UnspecifiedMatching +GARD:17534 Rubinstein-Taybi syndrome due to CREBBP mutations skos:narrowMatch OMIM:180849 semapv:UnspecifiedMatching +GARD:17535 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch Orphanet:353284 semapv:UnspecifiedMatching +GARD:17535 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:narrowMatch OMIM:613684 semapv:UnspecifiedMatching +GARD:17536 Pyruvate carboxylase deficiency, infantile type skos:exactMatch Orphanet:353308 semapv:UnspecifiedMatching +GARD:17536 Pyruvate carboxylase deficiency, infantile type skos:narrowMatch OMIM:266150 semapv:UnspecifiedMatching +GARD:17537 Pyruvate carboxylase deficiency, severe neonatal type skos:exactMatch Orphanet:353314 semapv:UnspecifiedMatching +GARD:17537 Pyruvate carboxylase deficiency, severe neonatal type skos:narrowMatch OMIM:266150 semapv:UnspecifiedMatching +GARD:17538 Pyruvate carboxylase deficiency, benign type skos:exactMatch Orphanet:353320 semapv:UnspecifiedMatching +GARD:17538 Pyruvate carboxylase deficiency, benign type skos:narrowMatch OMIM:266150 semapv:UnspecifiedMatching +GARD:17539 Congenital myasthenic syndromes with glycosylation defect skos:exactMatch Orphanet:353327 semapv:UnspecifiedMatching +GARD:17539 Congenital myasthenic syndromes with glycosylation defect skos:narrowMatch OMIM:610542 semapv:UnspecifiedMatching +GARD:17539 Congenital myasthenic syndromes with glycosylation defect skos:narrowMatch OMIM:614750 semapv:UnspecifiedMatching +GARD:17539 Congenital myasthenic syndromes with glycosylation defect skos:narrowMatch OMIM:616227 semapv:UnspecifiedMatching +GARD:17539 Congenital myasthenic syndromes with glycosylation defect skos:narrowMatch OMIM:616228 semapv:UnspecifiedMatching +GARD:17540 D,L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:356978 semapv:UnspecifiedMatching +GARD:17540 D,L-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:615182 semapv:UnspecifiedMatching +GARD:17541 ANK3-related intellectual disability-sleep disturbance syndrome skos:exactMatch Orphanet:356996 semapv:UnspecifiedMatching +GARD:17541 ANK3-related intellectual disability-sleep disturbance syndrome skos:narrowMatch OMIM:615493 semapv:UnspecifiedMatching +GARD:17542 19p13.13 microdeletion syndrome skos:exactMatch Orphanet:357001 semapv:UnspecifiedMatching +GARD:17542 19p13.13 microdeletion syndrome skos:narrowMatch OMIM:613638 semapv:UnspecifiedMatching +GARD:17543 Hemolytic uremic syndrome with DGKE deficiency skos:exactMatch Orphanet:357008 semapv:UnspecifiedMatching +GARD:17543 Hemolytic uremic syndrome with DGKE deficiency skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +GARD:17544 Hereditary retinoblastoma skos:exactMatch Orphanet:357027 semapv:UnspecifiedMatching +GARD:17544 Hereditary retinoblastoma skos:narrowMatch OMIM:180200 semapv:UnspecifiedMatching +GARD:17545 Non-hereditary retinoblastoma skos:exactMatch Orphanet:357034 semapv:UnspecifiedMatching +GARD:17545 Non-hereditary retinoblastoma skos:narrowMatch OMIM:180200 semapv:UnspecifiedMatching +GARD:17546 Autosomal recessive cutis laxa type 2, classic type skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching +GARD:17546 Autosomal recessive cutis laxa type 2, classic type skos:narrowMatch OMIM:219200 semapv:UnspecifiedMatching +GARD:17546 Autosomal recessive cutis laxa type 2, classic type skos:narrowMatch OMIM:617402 semapv:UnspecifiedMatching +GARD:17546 Autosomal recessive cutis laxa type 2, classic type skos:narrowMatch OMIM:617403 semapv:UnspecifiedMatching +GARD:17547 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch Orphanet:357158 semapv:UnspecifiedMatching +GARD:17547 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:narrowMatch OMIM:602562 semapv:UnspecifiedMatching +GARD:17548 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch Orphanet:357175 semapv:UnspecifiedMatching +GARD:17548 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:narrowMatch OMIM:615162 semapv:UnspecifiedMatching +GARD:17549 Severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch Orphanet:357237 semapv:UnspecifiedMatching +GARD:17549 Severe combined immunodeficiency due to CARD11 deficiency skos:narrowMatch OMIM:615206 semapv:UnspecifiedMatching +GARD:17550 Combined immunodeficiency due to IL21R deficiency skos:exactMatch Orphanet:357329 semapv:UnspecifiedMatching +GARD:17550 Combined immunodeficiency due to IL21R deficiency skos:narrowMatch OMIM:615207 semapv:UnspecifiedMatching +GARD:17551 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:exactMatch Orphanet:357332 semapv:UnspecifiedMatching +GARD:17551 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:narrowMatch OMIM:615170 semapv:UnspecifiedMatching +GARD:17552 Severe neurodegenerative syndrome with lipodystrophy skos:exactMatch Orphanet:363400 semapv:UnspecifiedMatching +GARD:17552 Severe neurodegenerative syndrome with lipodystrophy skos:narrowMatch OMIM:615924 semapv:UnspecifiedMatching +GARD:17553 Fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch Orphanet:363409 semapv:UnspecifiedMatching +GARD:17553 Fetal akinesia-cerebral and retinal hemorrhage syndrome skos:narrowMatch OMIM:615368 semapv:UnspecifiedMatching +GARD:17554 Hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch Orphanet:363412 semapv:UnspecifiedMatching +GARD:17554 Hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:narrowMatch OMIM:615281 semapv:UnspecifiedMatching +GARD:17555 Multiple mitochondrial dysfunctions syndrome type 3 skos:exactMatch Orphanet:363424 semapv:UnspecifiedMatching +GARD:17555 Multiple mitochondrial dysfunctions syndrome type 3 skos:narrowMatch OMIM:615330 semapv:UnspecifiedMatching +GARD:17556 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:exactMatch Orphanet:363429 semapv:UnspecifiedMatching +GARD:17556 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:narrowMatch OMIM:614831 semapv:UnspecifiedMatching +GARD:17556 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:narrowMatch OMIM:616204 semapv:UnspecifiedMatching +GARD:17557 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency skos:exactMatch Orphanet:363432 semapv:UnspecifiedMatching +GARD:17557 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency skos:narrowMatch OMIM:616204 semapv:UnspecifiedMatching +GARD:17558 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:exactMatch Orphanet:363444 semapv:UnspecifiedMatching +GARD:17558 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:narrowMatch OMIM:613680 semapv:UnspecifiedMatching +GARD:17559 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:363447 semapv:UnspecifiedMatching +GARD:17559 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:158600 semapv:UnspecifiedMatching +GARD:17559 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:615290 semapv:UnspecifiedMatching +GARD:17560 Testicular teratoma skos:exactMatch Orphanet:363483 semapv:UnspecifiedMatching +GARD:17560 Testicular teratoma skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +GARD:17561 Non-seminomatous germ cell tumor of testis skos:exactMatch Orphanet:363494 semapv:UnspecifiedMatching +GARD:17561 Non-seminomatous germ cell tumor of testis skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +GARD:17562 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch Orphanet:363523 semapv:UnspecifiedMatching +GARD:17562 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:narrowMatch OMIM:615328 semapv:UnspecifiedMatching +GARD:17563 Intellectual disability-strabismus syndrome skos:exactMatch Orphanet:363528 semapv:UnspecifiedMatching +GARD:17563 Intellectual disability-strabismus syndrome skos:narrowMatch OMIM:615286 semapv:UnspecifiedMatching +GARD:17564 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:exactMatch Orphanet:363534 semapv:UnspecifiedMatching +GARD:17564 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:narrowMatch OMIM:271245 semapv:UnspecifiedMatching +GARD:17565 Leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch Orphanet:363540 semapv:UnspecifiedMatching +GARD:17565 Leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:narrowMatch OMIM:615651 semapv:UnspecifiedMatching +GARD:17566 CTCF-related neurodevelopmental disorder skos:exactMatch Orphanet:363611 semapv:UnspecifiedMatching +GARD:17566 CTCF-related neurodevelopmental disorder skos:narrowMatch OMIM:615502 semapv:UnspecifiedMatching +GARD:17567 X-linked parkinsonism-spasticity syndrome skos:exactMatch Orphanet:363654 semapv:UnspecifiedMatching +GARD:17567 X-linked parkinsonism-spasticity syndrome skos:narrowMatch OMIM:300911 semapv:UnspecifiedMatching +GARD:17568 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:exactMatch Orphanet:363677 semapv:UnspecifiedMatching +GARD:17568 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:narrowMatch OMIM:605637 semapv:UnspecifiedMatching +GARD:17569 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch Orphanet:363694 semapv:UnspecifiedMatching +GARD:17569 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:narrowMatch OMIM:613845 semapv:UnspecifiedMatching +GARD:17570 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:exactMatch Orphanet:363700 semapv:UnspecifiedMatching +GARD:17570 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:narrowMatch OMIM:162200 semapv:UnspecifiedMatching +GARD:17571 Craniofaciofrontodigital syndrome skos:exactMatch Orphanet:363705 semapv:UnspecifiedMatching +GARD:17571 Craniofaciofrontodigital syndrome skos:narrowMatch OMIM:114620 semapv:UnspecifiedMatching +GARD:17572 Alexander disease type I skos:exactMatch Orphanet:363717 semapv:UnspecifiedMatching +GARD:17572 Alexander disease type I skos:narrowMatch OMIM:203450 semapv:UnspecifiedMatching +GARD:17573 Alexander disease type II skos:exactMatch Orphanet:363722 semapv:UnspecifiedMatching +GARD:17573 Alexander disease type II skos:narrowMatch OMIM:203450 semapv:UnspecifiedMatching +GARD:17574 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia skos:exactMatch Orphanet:363727 semapv:UnspecifiedMatching +GARD:17574 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia skos:narrowMatch OMIM:300835 semapv:UnspecifiedMatching +GARD:17575 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome skos:exactMatch Orphanet:363741 semapv:UnspecifiedMatching +GARD:17575 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome skos:narrowMatch OMIM:601794 semapv:UnspecifiedMatching +GARD:17576 17q21.31 microdeletion syndrome skos:exactMatch Orphanet:363958 semapv:UnspecifiedMatching +GARD:17576 17q21.31 microdeletion syndrome skos:narrowMatch OMIM:610443 semapv:UnspecifiedMatching +GARD:17577 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia skos:exactMatch Orphanet:363972 semapv:UnspecifiedMatching +GARD:17577 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia skos:narrowMatch OMIM:613563 semapv:UnspecifiedMatching +GARD:17578 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch Orphanet:363981 semapv:UnspecifiedMatching +GARD:17578 Charcot-Marie-Tooth disease type 4B3 skos:narrowMatch OMIM:615284 semapv:UnspecifiedMatching +GARD:17579 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome skos:exactMatch Orphanet:363992 semapv:UnspecifiedMatching +GARD:17579 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome skos:narrowMatch OMIM:613195 semapv:UnspecifiedMatching +GARD:17580 Non-immune hydrops fetalis skos:exactMatch Orphanet:363999 semapv:UnspecifiedMatching +GARD:17580 Non-immune hydrops fetalis skos:narrowMatch OMIM:236750 semapv:UnspecifiedMatching +GARD:17581 X-linked intellectual disability due to GRIA3 mutations skos:exactMatch Orphanet:364028 semapv:UnspecifiedMatching +GARD:17581 X-linked intellectual disability due to GRIA3 mutations skos:narrowMatch OMIM:300699 semapv:UnspecifiedMatching +GARD:17582 Infantile epileptic-dyskinetic encephalopathy skos:exactMatch Orphanet:364063 semapv:UnspecifiedMatching +GARD:17582 Infantile epileptic-dyskinetic encephalopathy skos:narrowMatch OMIM:308350 semapv:UnspecifiedMatching +GARD:17583 Intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch Orphanet:364577 semapv:UnspecifiedMatching +GARD:17583 Intellectual disability-brachydactyly-Pierre Robin syndrome skos:narrowMatch OMIM:608670 semapv:UnspecifiedMatching +GARD:17584 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome skos:exactMatch Orphanet:369837 semapv:UnspecifiedMatching +GARD:17584 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome skos:narrowMatch OMIM:615398 semapv:UnspecifiedMatching +GARD:17585 Congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch Orphanet:369852 semapv:UnspecifiedMatching +GARD:17585 Congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:narrowMatch OMIM:615285 semapv:UnspecifiedMatching +GARD:17586 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch Orphanet:369861 semapv:UnspecifiedMatching +GARD:17586 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:narrowMatch OMIM:616084 semapv:UnspecifiedMatching +GARD:17587 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C skos:exactMatch Orphanet:369867 semapv:UnspecifiedMatching +GARD:17587 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C skos:narrowMatch OMIM:615376 semapv:UnspecifiedMatching +GARD:17588 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency skos:exactMatch Orphanet:369891 semapv:UnspecifiedMatching +GARD:17588 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency skos:narrowMatch OMIM:616789 semapv:UnspecifiedMatching +GARD:17589 Combined oxidative phosphorylation defect type 17 skos:exactMatch Orphanet:369913 semapv:UnspecifiedMatching +GARD:17589 Combined oxidative phosphorylation defect type 17 skos:narrowMatch OMIM:615440 semapv:UnspecifiedMatching +GARD:17590 Pontocerebellar hypoplasia type 9 skos:exactMatch Orphanet:369920 semapv:UnspecifiedMatching +GARD:17590 Pontocerebellar hypoplasia type 9 skos:narrowMatch OMIM:615809 semapv:UnspecifiedMatching +GARD:17591 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome skos:exactMatch Orphanet:369929 semapv:UnspecifiedMatching +GARD:17591 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome skos:narrowMatch OMIM:615474 semapv:UnspecifiedMatching +GARD:17592 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch Orphanet:369939 semapv:UnspecifiedMatching +GARD:17592 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:narrowMatch OMIM:300475 semapv:UnspecifiedMatching +GARD:17593 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome skos:exactMatch Orphanet:369970 semapv:UnspecifiedMatching +GARD:17593 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome skos:narrowMatch OMIM:615458 semapv:UnspecifiedMatching +GARD:17594 Severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch Orphanet:369992 semapv:UnspecifiedMatching +GARD:17594 Severe dermatitis-multiple allergies-metabolic wasting syndrome skos:narrowMatch OMIM:615508 semapv:UnspecifiedMatching +GARD:17595 Diffuse palmoplantar keratoderma with painful fissures skos:exactMatch Orphanet:369999 semapv:UnspecifiedMatching +GARD:17595 Diffuse palmoplantar keratoderma with painful fissures skos:narrowMatch OMIM:148700 semapv:UnspecifiedMatching +GARD:17596 Focal palmoplantar keratoderma with joint keratoses skos:exactMatch Orphanet:370002 semapv:UnspecifiedMatching +GARD:17596 Focal palmoplantar keratoderma with joint keratoses skos:narrowMatch OMIM:148700 semapv:UnspecifiedMatching +GARD:17597 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome skos:exactMatch Orphanet:370022 semapv:UnspecifiedMatching +GARD:17597 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome skos:narrowMatch OMIM:615960 semapv:UnspecifiedMatching +GARD:17598 Oculocutaneous albinism type 5 skos:exactMatch Orphanet:370091 semapv:UnspecifiedMatching +GARD:17598 Oculocutaneous albinism type 5 skos:narrowMatch OMIM:615312 semapv:UnspecifiedMatching +GARD:17599 Oculocutaneous albinism type 6 skos:exactMatch Orphanet:370097 semapv:UnspecifiedMatching +GARD:17599 Oculocutaneous albinism type 6 skos:narrowMatch OMIM:113750 semapv:UnspecifiedMatching +GARD:176 Macrophagic myofasciitis skos:exactMatch Orphanet:592 semapv:UnspecifiedMatching +GARD:17600 Extraskeletal Ewing sarcoma skos:exactMatch Orphanet:370334 semapv:UnspecifiedMatching +GARD:17600 Extraskeletal Ewing sarcoma skos:narrowMatch OMIM:612219 semapv:UnspecifiedMatching +GARD:17601 Peripheral primitive neuroectodermal tumor skos:exactMatch Orphanet:370348 semapv:UnspecifiedMatching +GARD:17601 Peripheral primitive neuroectodermal tumor skos:narrowMatch OMIM:612219 semapv:UnspecifiedMatching +GARD:17602 STT3A-CDG skos:exactMatch Orphanet:370921 semapv:UnspecifiedMatching +GARD:17602 STT3A-CDG skos:narrowMatch OMIM:615596 semapv:UnspecifiedMatching +GARD:17603 STT3B-CDG skos:exactMatch Orphanet:370924 semapv:UnspecifiedMatching +GARD:17603 STT3B-CDG skos:narrowMatch OMIM:615597 semapv:UnspecifiedMatching +GARD:17604 Autism spectrum disorder-epilepsy-arthrogryposis syndrome skos:exactMatch Orphanet:370943 semapv:UnspecifiedMatching +GARD:17604 Autism spectrum disorder-epilepsy-arthrogryposis syndrome skos:narrowMatch OMIM:615553 semapv:UnspecifiedMatching +GARD:17605 Congenital muscular dystrophy with cerebellar involvement skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +GARD:17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:606612 semapv:UnspecifiedMatching +GARD:17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:613151 semapv:UnspecifiedMatching +GARD:17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:613155 semapv:UnspecifiedMatching +GARD:17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:613156 semapv:UnspecifiedMatching +GARD:17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:615351 semapv:UnspecifiedMatching +GARD:17606 Congenital muscular dystrophy with intellectual disability skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +GARD:17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:606612 semapv:UnspecifiedMatching +GARD:17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:608840 semapv:UnspecifiedMatching +GARD:17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:613155 semapv:UnspecifiedMatching +GARD:17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:613156 semapv:UnspecifiedMatching +GARD:17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:615351 semapv:UnspecifiedMatching +GARD:17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:618992 semapv:UnspecifiedMatching +GARD:17607 Congenital muscular dystrophy without intellectual disability skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching +GARD:17607 Congenital muscular dystrophy without intellectual disability skos:narrowMatch OMIM:606612 semapv:UnspecifiedMatching +GARD:17607 Congenital muscular dystrophy without intellectual disability skos:narrowMatch OMIM:613152 semapv:UnspecifiedMatching +GARD:17608 Muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:exactMatch Orphanet:370997 semapv:UnspecifiedMatching +GARD:17608 Muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:narrowMatch OMIM:616538 semapv:UnspecifiedMatching +GARD:17609 Hypotonia-speech impairment-severe cognitive delay syndrome skos:exactMatch Orphanet:371364 semapv:UnspecifiedMatching +GARD:17609 Hypotonia-speech impairment-severe cognitive delay syndrome skos:narrowMatch OMIM:615419 semapv:UnspecifiedMatching +GARD:17609 Hypotonia-speech impairment-severe cognitive delay syndrome skos:narrowMatch OMIM:616801 semapv:UnspecifiedMatching +GARD:17610 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching +GARD:17610 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:narrowMatch OMIM:259600 semapv:UnspecifiedMatching +GARD:17610 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:narrowMatch OMIM:277950 semapv:UnspecifiedMatching +GARD:17611 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch Orphanet:391307 semapv:UnspecifiedMatching +GARD:17611 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:narrowMatch OMIM:615541 semapv:UnspecifiedMatching +GARD:17612 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency skos:exactMatch Orphanet:391311 semapv:UnspecifiedMatching +GARD:17612 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency skos:narrowMatch OMIM:613796 semapv:UnspecifiedMatching +GARD:17613 East Texas bleeding disorder skos:exactMatch Orphanet:391320 semapv:UnspecifiedMatching +GARD:17613 East Texas bleeding disorder skos:narrowMatch OMIM:605913 semapv:UnspecifiedMatching +GARD:17614 X-linked osteoporosis with fractures skos:exactMatch Orphanet:391330 semapv:UnspecifiedMatching +GARD:17614 X-linked osteoporosis with fractures skos:narrowMatch OMIM:300910 semapv:UnspecifiedMatching +GARD:17615 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch Orphanet:391348 semapv:UnspecifiedMatching +GARD:17615 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:narrowMatch OMIM:615578 semapv:UnspecifiedMatching +GARD:17616 SURF1-related Charcot-Marie-Tooth disease type 4 skos:exactMatch Orphanet:391351 semapv:UnspecifiedMatching +GARD:17616 SURF1-related Charcot-Marie-Tooth disease type 4 skos:narrowMatch OMIM:616684 semapv:UnspecifiedMatching +GARD:17617 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome skos:exactMatch Orphanet:391376 semapv:UnspecifiedMatching +GARD:17617 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome skos:narrowMatch OMIM:615574 semapv:UnspecifiedMatching +GARD:17618 Familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch Orphanet:391389 semapv:UnspecifiedMatching +GARD:17618 Familial episodic pain syndrome with predominantly upper body involvement skos:narrowMatch OMIM:615040 semapv:UnspecifiedMatching +GARD:17619 Familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch Orphanet:391392 semapv:UnspecifiedMatching +GARD:17619 Familial episodic pain syndrome with predominantly lower limb involvement skos:narrowMatch OMIM:615552 semapv:UnspecifiedMatching +GARD:17620 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:exactMatch Orphanet:391408 semapv:UnspecifiedMatching +GARD:17620 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:narrowMatch OMIM:616033 semapv:UnspecifiedMatching +GARD:17620 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:narrowMatch OMIM:616817 semapv:UnspecifiedMatching +GARD:17621 Atypical juvenile parkinsonism skos:exactMatch Orphanet:391411 semapv:UnspecifiedMatching +GARD:17621 Atypical juvenile parkinsonism skos:narrowMatch OMIM:615528 semapv:UnspecifiedMatching +GARD:17621 Atypical juvenile parkinsonism skos:narrowMatch OMIM:615530 semapv:UnspecifiedMatching +GARD:17622 HSD10 disease, infantile type skos:exactMatch Orphanet:391428 semapv:UnspecifiedMatching +GARD:17622 HSD10 disease, infantile type skos:narrowMatch OMIM:300438 semapv:UnspecifiedMatching +GARD:17623 HSD10 disease, neonatal type skos:exactMatch Orphanet:391457 semapv:UnspecifiedMatching +GARD:17623 HSD10 disease, neonatal type skos:narrowMatch OMIM:300438 semapv:UnspecifiedMatching +GARD:17624 Feingold syndrome type 1 skos:exactMatch Orphanet:391641 semapv:UnspecifiedMatching +GARD:17624 Feingold syndrome type 1 skos:narrowMatch OMIM:164280 semapv:UnspecifiedMatching +GARD:17625 Feingold syndrome type 2 skos:exactMatch Orphanet:391646 semapv:UnspecifiedMatching +GARD:17625 Feingold syndrome type 2 skos:narrowMatch OMIM:614326 semapv:UnspecifiedMatching +GARD:17626 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:exactMatch Orphanet:394529 semapv:UnspecifiedMatching +GARD:17626 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:narrowMatch OMIM:231680 semapv:UnspecifiedMatching +GARD:17626 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:narrowMatch OMIM:255100 semapv:UnspecifiedMatching +GARD:17627 Multiple acyl-CoA dehydrogenase deficiency, mild type skos:exactMatch Orphanet:394532 semapv:UnspecifiedMatching +GARD:17627 Multiple acyl-CoA dehydrogenase deficiency, mild type skos:narrowMatch OMIM:231680 semapv:UnspecifiedMatching +GARD:17627 Multiple acyl-CoA dehydrogenase deficiency, mild type skos:narrowMatch OMIM:255100 semapv:UnspecifiedMatching +GARD:17628 Silver-Russell syndrome due to a point mutation skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching +GARD:17628 Silver-Russell syndrome due to a point mutation skos:narrowMatch OMIM:616489 semapv:UnspecifiedMatching +GARD:17628 Silver-Russell syndrome due to a point mutation skos:narrowMatch OMIM:618907 semapv:UnspecifiedMatching +GARD:17628 Silver-Russell syndrome due to a point mutation skos:narrowMatch OMIM:618908 semapv:UnspecifiedMatching +GARD:17629 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:exactMatch Orphanet:397593 semapv:UnspecifiedMatching +GARD:17629 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:narrowMatch OMIM:615595 semapv:UnspecifiedMatching +GARD:17630 Macrocephaly-developmental delay syndrome skos:exactMatch Orphanet:397612 semapv:UnspecifiedMatching +GARD:17630 Macrocephaly-developmental delay syndrome skos:narrowMatch OMIM:615637 semapv:UnspecifiedMatching +GARD:17631 Obesity due to CEP19 deficiency skos:exactMatch Orphanet:397615 semapv:UnspecifiedMatching +GARD:17631 Obesity due to CEP19 deficiency skos:narrowMatch OMIM:615703 semapv:UnspecifiedMatching +GARD:17632 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome skos:exactMatch Orphanet:397618 semapv:UnspecifiedMatching +GARD:17632 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome skos:narrowMatch OMIM:609218 semapv:UnspecifiedMatching +GARD:17633 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch Orphanet:397623 semapv:UnspecifiedMatching +GARD:17633 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:narrowMatch OMIM:602471 semapv:UnspecifiedMatching +GARD:17634 Familial hyperprolactinemia skos:exactMatch Orphanet:397685 semapv:UnspecifiedMatching +GARD:17634 Familial hyperprolactinemia skos:narrowMatch OMIM:615555 semapv:UnspecifiedMatching +GARD:17635 Hereditary isolated aplastic anemia skos:exactMatch Orphanet:397692 semapv:UnspecifiedMatching +GARD:17635 Hereditary isolated aplastic anemia skos:narrowMatch OMIM:616553 semapv:UnspecifiedMatching +GARD:17636 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome skos:exactMatch Orphanet:397709 semapv:UnspecifiedMatching +GARD:17636 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome skos:narrowMatch OMIM:616354 semapv:UnspecifiedMatching +GARD:17637 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:exactMatch Orphanet:397715 semapv:UnspecifiedMatching +GARD:17637 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:narrowMatch OMIM:615636 semapv:UnspecifiedMatching +GARD:17637 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:narrowMatch OMIM:616546 semapv:UnspecifiedMatching +GARD:17638 Autosomal dominant Charcot-Marie-Tooth disease type 2U skos:exactMatch Orphanet:397735 semapv:UnspecifiedMatching +GARD:17638 Autosomal dominant Charcot-Marie-Tooth disease type 2U skos:narrowMatch OMIM:616280 semapv:UnspecifiedMatching +GARD:17639 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch Orphanet:397744 semapv:UnspecifiedMatching +GARD:17639 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:narrowMatch OMIM:614369 semapv:UnspecifiedMatching +GARD:17640 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch Orphanet:397758 semapv:UnspecifiedMatching +GARD:17640 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:narrowMatch OMIM:616079 semapv:UnspecifiedMatching +GARD:17641 Severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching +GARD:17641 Severe combined immunodeficiency due to IKK2 deficiency skos:narrowMatch OMIM:615592 semapv:UnspecifiedMatching +GARD:17641 Severe combined immunodeficiency due to IKK2 deficiency skos:narrowMatch OMIM:618204 semapv:UnspecifiedMatching +GARD:17642 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:exactMatch Orphanet:397927 semapv:UnspecifiedMatching +GARD:17642 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:narrowMatch OMIM:615709 semapv:UnspecifiedMatching +GARD:17643 Polyglucosan body myopathy type 1 skos:exactMatch Orphanet:397937 semapv:UnspecifiedMatching +GARD:17643 Polyglucosan body myopathy type 1 skos:narrowMatch OMIM:615895 semapv:UnspecifiedMatching +GARD:17644 Autosomal spastic paraplegia type 58 skos:exactMatch Orphanet:397946 semapv:UnspecifiedMatching +GARD:17644 Autosomal spastic paraplegia type 58 skos:narrowMatch OMIM:611302 semapv:UnspecifiedMatching +GARD:17645 Microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch Orphanet:397951 semapv:UnspecifiedMatching +GARD:17645 Microcephaly-thin corpus callosum-intellectual disability syndrome skos:narrowMatch OMIM:615599 semapv:UnspecifiedMatching +GARD:17646 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch Orphanet:397959 semapv:UnspecifiedMatching +GARD:17646 TCR-alpha-beta-positive T-cell deficiency skos:narrowMatch OMIM:615387 semapv:UnspecifiedMatching +GARD:17647 Combined immunodeficiency due to MALT1 deficiency skos:exactMatch Orphanet:397964 semapv:UnspecifiedMatching +GARD:17647 Combined immunodeficiency due to MALT1 deficiency skos:narrowMatch OMIM:615468 semapv:UnspecifiedMatching +GARD:17648 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch Orphanet:397973 semapv:UnspecifiedMatching +GARD:17648 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:narrowMatch OMIM:606772 semapv:UnspecifiedMatching +GARD:17649 Focal facial dermal dysplasia type II skos:exactMatch Orphanet:398173 semapv:UnspecifiedMatching +GARD:17649 Focal facial dermal dysplasia type II skos:narrowMatch OMIM:614973 semapv:UnspecifiedMatching +GARD:17650 Focal facial dermal dysplasia type IV skos:exactMatch Orphanet:398189 semapv:UnspecifiedMatching +GARD:17650 Focal facial dermal dysplasia type IV skos:narrowMatch OMIM:614974 semapv:UnspecifiedMatching +GARD:17651 Alpha-B crystallin-related late-onset myopathy skos:exactMatch Orphanet:399058 semapv:UnspecifiedMatching +GARD:17651 Alpha-B crystallin-related late-onset myopathy skos:narrowMatch OMIM:608810 semapv:UnspecifiedMatching +GARD:17652 Finnish upper limb-onset distal myopathy skos:exactMatch Orphanet:399086 semapv:UnspecifiedMatching +GARD:17652 Finnish upper limb-onset distal myopathy skos:narrowMatch OMIM:610099 semapv:UnspecifiedMatching +GARD:17653 Distal anoctaminopathy skos:exactMatch Orphanet:399096 semapv:UnspecifiedMatching +GARD:17653 Distal anoctaminopathy skos:narrowMatch OMIM:613319 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:102530 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:243060 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:301059 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:613958 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:615413 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619044 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619094 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619095 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619102 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619144 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619145 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619177 semapv:UnspecifiedMatching +GARD:17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619258 semapv:UnspecifiedMatching +GARD:17655 Pancytopenia-developmental delay syndrome skos:exactMatch Orphanet:401764 semapv:UnspecifiedMatching +GARD:17655 Pancytopenia-developmental delay syndrome skos:narrowMatch OMIM:615715 semapv:UnspecifiedMatching +GARD:17656 Autosomal recessive spastic paraplegia type 61 skos:exactMatch Orphanet:401780 semapv:UnspecifiedMatching +GARD:17656 Autosomal recessive spastic paraplegia type 61 skos:narrowMatch OMIM:615685 semapv:UnspecifiedMatching +GARD:17657 Autosomal recessive spastic paraplegia type 62 skos:exactMatch Orphanet:401785 semapv:UnspecifiedMatching +GARD:17657 Autosomal recessive spastic paraplegia type 62 skos:narrowMatch OMIM:615681 semapv:UnspecifiedMatching +GARD:17658 Autosomal recessive spastic paraplegia type 63 skos:exactMatch Orphanet:401805 semapv:UnspecifiedMatching +GARD:17658 Autosomal recessive spastic paraplegia type 63 skos:narrowMatch OMIM:615686 semapv:UnspecifiedMatching +GARD:17659 Autosomal recessive spastic paraplegia type 64 skos:exactMatch Orphanet:401810 semapv:UnspecifiedMatching +GARD:17659 Autosomal recessive spastic paraplegia type 64 skos:narrowMatch OMIM:615683 semapv:UnspecifiedMatching +GARD:17660 Autosomal spastic paraplegia type 72 skos:exactMatch Orphanet:401849 semapv:UnspecifiedMatching +GARD:17660 Autosomal spastic paraplegia type 72 skos:narrowMatch OMIM:615625 semapv:UnspecifiedMatching +GARD:17661 Multiple mitochondrial dysfunctions syndrome type 1 skos:exactMatch Orphanet:401869 semapv:UnspecifiedMatching +GARD:17661 Multiple mitochondrial dysfunctions syndrome type 1 skos:narrowMatch OMIM:605711 semapv:UnspecifiedMatching +GARD:17662 Multiple mitochondrial dysfunctions syndrome type 2 skos:exactMatch Orphanet:401874 semapv:UnspecifiedMatching +GARD:17662 Multiple mitochondrial dysfunctions syndrome type 2 skos:narrowMatch OMIM:614299 semapv:UnspecifiedMatching +GARD:17663 Familial median cleft of the upper and lower lips skos:exactMatch Orphanet:401942 semapv:UnspecifiedMatching +GARD:17663 Familial median cleft of the upper and lower lips skos:narrowMatch OMIM:615892 semapv:UnspecifiedMatching +GARD:17664 Moyamoya disease with early-onset achalasia skos:exactMatch Orphanet:401945 semapv:UnspecifiedMatching +GARD:17664 Moyamoya disease with early-onset achalasia skos:narrowMatch OMIM:615750 semapv:UnspecifiedMatching +GARD:17665 Episodic ataxia with slurred speech skos:exactMatch Orphanet:401953 semapv:UnspecifiedMatching +GARD:17665 Episodic ataxia with slurred speech skos:narrowMatch OMIM:616055 semapv:UnspecifiedMatching +GARD:17666 MEND syndrome skos:exactMatch Orphanet:401973 semapv:UnspecifiedMatching +GARD:17666 MEND syndrome skos:narrowMatch OMIM:300960 semapv:UnspecifiedMatching +GARD:17667 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type skos:exactMatch Orphanet:401979 semapv:UnspecifiedMatching +GARD:17667 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type skos:narrowMatch OMIM:613320 semapv:UnspecifiedMatching +GARD:17668 1p31p32 microdeletion syndrome skos:exactMatch Orphanet:401986 semapv:UnspecifiedMatching +GARD:17668 1p31p32 microdeletion syndrome skos:narrowMatch OMIM:613735 semapv:UnspecifiedMatching +GARD:17669 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering skos:exactMatch Orphanet:402003 semapv:UnspecifiedMatching +GARD:17669 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering skos:narrowMatch OMIM:615735 semapv:UnspecifiedMatching +GARD:17670 Familial bicuspid aortic valve skos:exactMatch Orphanet:402075 semapv:UnspecifiedMatching +GARD:17670 Familial bicuspid aortic valve skos:narrowMatch OMIM:109730 semapv:UnspecifiedMatching +GARD:17670 Familial bicuspid aortic valve skos:narrowMatch OMIM:614823 semapv:UnspecifiedMatching +GARD:17671 Progressive myoclonic epilepsy type 5 skos:exactMatch Orphanet:402082 semapv:UnspecifiedMatching +GARD:17671 Progressive myoclonic epilepsy type 5 skos:narrowMatch OMIM:607459 semapv:UnspecifiedMatching +GARD:17672 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome skos:exactMatch Orphanet:404437 semapv:UnspecifiedMatching +GARD:17672 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome skos:narrowMatch OMIM:615760 semapv:UnspecifiedMatching +GARD:17673 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:exactMatch Orphanet:404440 semapv:UnspecifiedMatching +GARD:17673 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:narrowMatch OMIM:615761 semapv:UnspecifiedMatching +GARD:17674 Tatton-Brown-Rahman syndrome skos:exactMatch Orphanet:404443 semapv:UnspecifiedMatching +GARD:17674 Tatton-Brown-Rahman syndrome skos:narrowMatch OMIM:615879 semapv:UnspecifiedMatching +GARD:17675 Female infertility due to zona pellucida defect skos:exactMatch Orphanet:404466 semapv:UnspecifiedMatching +GARD:17675 Female infertility due to zona pellucida defect skos:narrowMatch OMIM:615774 semapv:UnspecifiedMatching +GARD:17675 Female infertility due to zona pellucida defect skos:narrowMatch OMIM:617712 semapv:UnspecifiedMatching +GARD:17675 Female infertility due to zona pellucida defect skos:narrowMatch OMIM:618353 semapv:UnspecifiedMatching +GARD:17676 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome skos:exactMatch Orphanet:404476 semapv:UnspecifiedMatching +GARD:17676 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome skos:narrowMatch OMIM:618272 semapv:UnspecifiedMatching +GARD:17677 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency skos:exactMatch Orphanet:404493 semapv:UnspecifiedMatching +GARD:17677 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency skos:narrowMatch OMIM:616949 semapv:UnspecifiedMatching +GARD:17678 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency skos:exactMatch Orphanet:404499 semapv:UnspecifiedMatching +GARD:17678 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency skos:narrowMatch OMIM:615705 semapv:UnspecifiedMatching +GARD:17679 DITRA skos:exactMatch Orphanet:404546 semapv:UnspecifiedMatching +GARD:17679 DITRA skos:narrowMatch OMIM:614204 semapv:UnspecifiedMatching +GARD:17680 Pontocerebellar hypoplasia type 10 skos:exactMatch Orphanet:411493 semapv:UnspecifiedMatching +GARD:17680 Pontocerebellar hypoplasia type 10 skos:narrowMatch OMIM:615803 semapv:UnspecifiedMatching +GARD:17681 Mild phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:411536 semapv:UnspecifiedMatching +GARD:17681 Mild phosphoribosylpyrophosphate synthetase superactivity skos:narrowMatch OMIM:300661 semapv:UnspecifiedMatching +GARD:17682 Severe phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:411543 semapv:UnspecifiedMatching +GARD:17682 Severe phosphoribosylpyrophosphate synthetase superactivity skos:narrowMatch OMIM:300661 semapv:UnspecifiedMatching +GARD:17683 Wolfram-like syndrome skos:exactMatch Orphanet:411590 semapv:UnspecifiedMatching +GARD:17683 Wolfram-like syndrome skos:narrowMatch OMIM:614296 semapv:UnspecifiedMatching +GARD:17684 Hereditary late-onset Parkinson disease skos:exactMatch Orphanet:411602 semapv:UnspecifiedMatching +GARD:17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:168601 semapv:UnspecifiedMatching +GARD:17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:605543 semapv:UnspecifiedMatching +GARD:17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:607060 semapv:UnspecifiedMatching +GARD:17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:607688 semapv:UnspecifiedMatching +GARD:17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:614203 semapv:UnspecifiedMatching +GARD:17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:614251 semapv:UnspecifiedMatching +GARD:17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:616361 semapv:UnspecifiedMatching +GARD:17685 Juvenile nephropathic cystinosis skos:exactMatch Orphanet:411634 semapv:UnspecifiedMatching +GARD:17685 Juvenile nephropathic cystinosis skos:narrowMatch OMIM:219900 semapv:UnspecifiedMatching +GARD:17686 Maternal riboflavin deficiency skos:exactMatch Orphanet:411712 semapv:UnspecifiedMatching +GARD:17686 Maternal riboflavin deficiency skos:narrowMatch OMIM:615026 semapv:UnspecifiedMatching +GARD:17687 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:411986 semapv:UnspecifiedMatching +GARD:17687 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome skos:narrowMatch OMIM:615859 semapv:UnspecifiedMatching +GARD:17688 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch Orphanet:412022 semapv:UnspecifiedMatching +GARD:17688 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:narrowMatch OMIM:601552 semapv:UnspecifiedMatching +GARD:17689 Autosomal recessive cerebellar ataxia due to STUB1 deficiency skos:exactMatch Orphanet:412057 semapv:UnspecifiedMatching +GARD:17689 Autosomal recessive cerebellar ataxia due to STUB1 deficiency skos:narrowMatch OMIM:615768 semapv:UnspecifiedMatching +GARD:17690 Epidermolysis bullosa simplex due to BP230 deficiency skos:exactMatch Orphanet:412181 semapv:UnspecifiedMatching +GARD:17690 Epidermolysis bullosa simplex due to BP230 deficiency skos:narrowMatch OMIM:615425 semapv:UnspecifiedMatching +GARD:17691 Epidermolysis bullosa simplex due to exophilin 5 deficiency skos:exactMatch Orphanet:412189 semapv:UnspecifiedMatching +GARD:17691 Epidermolysis bullosa simplex due to exophilin 5 deficiency skos:narrowMatch OMIM:615028 semapv:UnspecifiedMatching +GARD:17692 Primary failure of tooth eruption skos:exactMatch Orphanet:412206 semapv:UnspecifiedMatching +GARD:17692 Primary failure of tooth eruption skos:narrowMatch OMIM:125350 semapv:UnspecifiedMatching +GARD:17693 Cranio-cervical dystonia with laryngeal and upper-limb involvement skos:exactMatch Orphanet:420485 semapv:UnspecifiedMatching +GARD:17693 Cranio-cervical dystonia with laryngeal and upper-limb involvement skos:narrowMatch OMIM:615034 semapv:UnspecifiedMatching +GARD:17694 Adult-onset cervical dystonia, DYT23 type skos:exactMatch Orphanet:420492 semapv:UnspecifiedMatching +GARD:17694 Adult-onset cervical dystonia, DYT23 type skos:narrowMatch OMIM:614860 semapv:UnspecifiedMatching +GARD:17695 Bleeding disorder due to CalDAG-GEFI deficiency skos:exactMatch Orphanet:420566 semapv:UnspecifiedMatching +GARD:17695 Bleeding disorder due to CalDAG-GEFI deficiency skos:narrowMatch OMIM:615888 semapv:UnspecifiedMatching +GARD:17696 Severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch Orphanet:420573 semapv:UnspecifiedMatching +GARD:17696 Severe combined immunodeficiency due to CTPS1 deficiency skos:narrowMatch OMIM:615897 semapv:UnspecifiedMatching +GARD:17697 Woolly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:420686 semapv:UnspecifiedMatching +GARD:17697 Woolly hair-palmoplantar keratoderma syndrome skos:narrowMatch OMIM:616099 semapv:UnspecifiedMatching +GARD:17698 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch Orphanet:420702 semapv:UnspecifiedMatching +GARD:17698 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:narrowMatch OMIM:617014 semapv:UnspecifiedMatching +GARD:17699 Combined oxidative phosphorylation defect type 20 skos:exactMatch Orphanet:420728 semapv:UnspecifiedMatching +GARD:17699 Combined oxidative phosphorylation defect type 20 skos:narrowMatch OMIM:615917 semapv:UnspecifiedMatching +GARD:177 Macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch Orphanet:2432 semapv:UnspecifiedMatching +GARD:177 Macrosomia-microphthalmia-cleft palate syndrome skos:narrowMatch OMIM:248110 semapv:UnspecifiedMatching +GARD:17700 Combined oxidative phosphorylation defect type 21 skos:exactMatch Orphanet:420733 semapv:UnspecifiedMatching +GARD:17700 Combined oxidative phosphorylation defect type 21 skos:narrowMatch OMIM:615918 semapv:UnspecifiedMatching +GARD:17701 RIDDLE syndrome skos:exactMatch Orphanet:420741 semapv:UnspecifiedMatching +GARD:17701 RIDDLE syndrome skos:narrowMatch OMIM:611943 semapv:UnspecifiedMatching +GARD:17702 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch Orphanet:423384 semapv:UnspecifiedMatching +GARD:17702 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:narrowMatch OMIM:616022 semapv:UnspecifiedMatching +GARD:17703 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch Orphanet:423454 semapv:UnspecifiedMatching +GARD:17703 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:narrowMatch OMIM:616029 semapv:UnspecifiedMatching +GARD:17704 Mucolipidosis type III alpha/beta skos:exactMatch Orphanet:423461 semapv:UnspecifiedMatching +GARD:17704 Mucolipidosis type III alpha/beta skos:narrowMatch OMIM:252600 semapv:UnspecifiedMatching +GARD:17705 Mucolipidosis type III gamma skos:exactMatch Orphanet:423470 semapv:UnspecifiedMatching +GARD:17705 Mucolipidosis type III gamma skos:narrowMatch OMIM:252605 semapv:UnspecifiedMatching +GARD:17706 Progressive myoclonic epilepsy type 8 skos:exactMatch Orphanet:424027 semapv:UnspecifiedMatching +GARD:17706 Progressive myoclonic epilepsy type 8 skos:narrowMatch OMIM:616230 semapv:UnspecifiedMatching +GARD:17707 Colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch Orphanet:424099 semapv:UnspecifiedMatching +GARD:17707 Colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:narrowMatch OMIM:615877 semapv:UnspecifiedMatching +GARD:17708 TOR1AIP1-related limb-girdle muscular dystrophy skos:exactMatch Orphanet:424261 semapv:UnspecifiedMatching +GARD:17708 TOR1AIP1-related limb-girdle muscular dystrophy skos:narrowMatch OMIM:617072 semapv:UnspecifiedMatching +GARD:17709 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch Orphanet:431140 semapv:UnspecifiedMatching +GARD:17709 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:narrowMatch OMIM:300915 semapv:UnspecifiedMatching +GARD:17710 Combined immunodeficiency due to OX40 deficiency skos:exactMatch Orphanet:431149 semapv:UnspecifiedMatching +GARD:17710 Combined immunodeficiency due to OX40 deficiency skos:narrowMatch OMIM:615593 semapv:UnspecifiedMatching +GARD:17711 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch Orphanet:431166 semapv:UnspecifiedMatching +GARD:17711 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:narrowMatch OMIM:616636 semapv:UnspecifiedMatching +GARD:17711 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:narrowMatch OMIM:616669 semapv:UnspecifiedMatching +GARD:17712 Autosomal recessive spastic paraplegia type 57 skos:exactMatch Orphanet:431329 semapv:UnspecifiedMatching +GARD:17712 Autosomal recessive spastic paraplegia type 57 skos:narrowMatch OMIM:615658 semapv:UnspecifiedMatching +GARD:17713 Familial ossifying fibroma skos:exactMatch Orphanet:435329 semapv:UnspecifiedMatching +GARD:17713 Familial ossifying fibroma skos:narrowMatch OMIM:137575 semapv:UnspecifiedMatching +GARD:17714 Autosomal dominant Charcot-Marie-Tooth disease type 2Y skos:exactMatch Orphanet:435387 semapv:UnspecifiedMatching +GARD:17714 Autosomal dominant Charcot-Marie-Tooth disease type 2Y skos:narrowMatch OMIM:616687 semapv:UnspecifiedMatching +GARD:17715 Progressive myoclonic epilepsy type 7 skos:exactMatch Orphanet:435438 semapv:UnspecifiedMatching +GARD:17715 Progressive myoclonic epilepsy type 7 skos:narrowMatch OMIM:616187 semapv:UnspecifiedMatching +GARD:17716 Keppen-Lubinsky syndrome skos:exactMatch Orphanet:435628 semapv:UnspecifiedMatching +GARD:17716 Keppen-Lubinsky syndrome skos:narrowMatch OMIM:614098 semapv:UnspecifiedMatching +GARD:17717 Short stature-advanced bone age-early-onset osteoarthritis syndrome skos:exactMatch Orphanet:435804 semapv:UnspecifiedMatching +GARD:17717 Short stature-advanced bone age-early-onset osteoarthritis syndrome skos:narrowMatch OMIM:165800 semapv:UnspecifiedMatching +GARD:17718 Lethal neonatal spasticity-epileptic encephalopathy syndrome skos:exactMatch Orphanet:435845 semapv:UnspecifiedMatching +GARD:17718 Lethal neonatal spasticity-epileptic encephalopathy syndrome skos:narrowMatch OMIM:614498 semapv:UnspecifiedMatching +GARD:17718 Lethal neonatal spasticity-epileptic encephalopathy syndrome skos:narrowMatch OMIM:618056 semapv:UnspecifiedMatching +GARD:17719 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 semapv:UnspecifiedMatching +GARD:17719 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:narrowMatch OMIM:212550 semapv:UnspecifiedMatching +GARD:17720 COG2-CDG skos:exactMatch Orphanet:435934 semapv:UnspecifiedMatching +GARD:17720 COG2-CDG skos:narrowMatch OMIM:617395 semapv:UnspecifiedMatching +GARD:17721 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:exactMatch Orphanet:435938 semapv:UnspecifiedMatching +GARD:17721 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:narrowMatch OMIM:300998 semapv:UnspecifiedMatching +GARD:17722 Progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch Orphanet:435953 semapv:UnspecifiedMatching +GARD:17722 Progeroid features-hepatocellular carcinoma predisposition syndrome skos:narrowMatch OMIM:616200 semapv:UnspecifiedMatching +GARD:17723 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D skos:exactMatch Orphanet:435998 semapv:UnspecifiedMatching +GARD:17723 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D skos:narrowMatch OMIM:616039 semapv:UnspecifiedMatching +GARD:17724 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:exactMatch Orphanet:436151 semapv:UnspecifiedMatching +GARD:17724 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:narrowMatch OMIM:616078 semapv:UnspecifiedMatching +GARD:17724 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:narrowMatch OMIM:616083 semapv:UnspecifiedMatching +GARD:17725 Periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch Orphanet:436166 semapv:UnspecifiedMatching +GARD:17725 Periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:narrowMatch OMIM:616050 semapv:UnspecifiedMatching +GARD:17726 Thrombomodulin-related bleeding disorder skos:exactMatch Orphanet:436169 semapv:UnspecifiedMatching +GARD:17726 Thrombomodulin-related bleeding disorder skos:narrowMatch OMIM:614486 semapv:UnspecifiedMatching +GARD:17727 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch Orphanet:436174 semapv:UnspecifiedMatching +GARD:17727 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:narrowMatch OMIM:616007 semapv:UnspecifiedMatching +GARD:17728 Microcephalic primordial dwarfism-insulin resistance syndrome skos:exactMatch Orphanet:436182 semapv:UnspecifiedMatching +GARD:17728 Microcephalic primordial dwarfism-insulin resistance syndrome skos:narrowMatch OMIM:616541 semapv:UnspecifiedMatching +GARD:17728 Microcephalic primordial dwarfism-insulin resistance syndrome skos:narrowMatch OMIM:617253 semapv:UnspecifiedMatching +GARD:17729 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease skos:exactMatch Orphanet:436242 semapv:UnspecifiedMatching +GARD:17729 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease skos:narrowMatch OMIM:616117 semapv:UnspecifiedMatching +GARD:17730 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch Orphanet:436245 semapv:UnspecifiedMatching +GARD:17730 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:narrowMatch OMIM:616108 semapv:UnspecifiedMatching +GARD:17731 Combined immunodeficiency-enteropathy spectrum skos:exactMatch Orphanet:436252 semapv:UnspecifiedMatching +GARD:17731 Combined immunodeficiency-enteropathy spectrum skos:narrowMatch OMIM:243150 semapv:UnspecifiedMatching +GARD:17732 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch Orphanet:437552 semapv:UnspecifiedMatching +GARD:17732 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:narrowMatch OMIM:615707 semapv:UnspecifiedMatching +GARD:17733 Ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch Orphanet:438075 semapv:UnspecifiedMatching +GARD:17733 Ketoacidosis due to monocarboxylate transporter-1 deficiency skos:narrowMatch OMIM:616095 semapv:UnspecifiedMatching +GARD:17734 RARS-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:438114 semapv:UnspecifiedMatching +GARD:17734 RARS-related autosomal recessive hypomyelinating leukodystrophy skos:narrowMatch OMIM:616140 semapv:UnspecifiedMatching +GARD:17735 Steel syndrome skos:exactMatch Orphanet:438117 semapv:UnspecifiedMatching +GARD:17735 Steel syndrome skos:narrowMatch OMIM:615155 semapv:UnspecifiedMatching +GARD:17736 PCNA-related progressive neurodegenerative photosensitivity syndrome skos:exactMatch Orphanet:438134 semapv:UnspecifiedMatching +GARD:17736 PCNA-related progressive neurodegenerative photosensitivity syndrome skos:narrowMatch OMIM:615919 semapv:UnspecifiedMatching +GARD:17737 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch Orphanet:438159 semapv:UnspecifiedMatching +GARD:17737 STAT3-related early-onset multisystem autoimmune disease skos:narrowMatch OMIM:615952 semapv:UnspecifiedMatching +GARD:17738 Severe autosomal recessive macrothrombocytopenia skos:exactMatch Orphanet:438207 semapv:UnspecifiedMatching +GARD:17738 Severe autosomal recessive macrothrombocytopenia skos:narrowMatch OMIM:616176 semapv:UnspecifiedMatching +GARD:17739 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:exactMatch Orphanet:438213 semapv:UnspecifiedMatching +GARD:17739 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:narrowMatch OMIM:616158 semapv:UnspecifiedMatching +GARD:17740 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:exactMatch Orphanet:438216 semapv:UnspecifiedMatching +GARD:17740 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:narrowMatch OMIM:616158 semapv:UnspecifiedMatching +GARD:17741 ITM2B amyloidosis skos:exactMatch Orphanet:439254 semapv:UnspecifiedMatching +GARD:17741 ITM2B amyloidosis skos:narrowMatch OMIM:117300 semapv:UnspecifiedMatching +GARD:17741 ITM2B amyloidosis skos:narrowMatch OMIM:176500 semapv:UnspecifiedMatching +GARD:17742 PDE4D haploinsufficiency syndrome skos:exactMatch Orphanet:439822 semapv:UnspecifiedMatching +GARD:17742 PDE4D haploinsufficiency syndrome skos:narrowMatch OMIM:615668 semapv:UnspecifiedMatching +GARD:17743 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:exactMatch Orphanet:439897 semapv:UnspecifiedMatching +GARD:17743 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:narrowMatch OMIM:616258 semapv:UnspecifiedMatching +GARD:17744 Interstitial lung disease due to SP-C deficiency skos:exactMatch Orphanet:440392 semapv:UnspecifiedMatching +GARD:17744 Interstitial lung disease due to SP-C deficiency skos:narrowMatch OMIM:610913 semapv:UnspecifiedMatching +GARD:17745 Interstitial lung disease due to ABCA3 deficiency skos:exactMatch Orphanet:440402 semapv:UnspecifiedMatching +GARD:17745 Interstitial lung disease due to ABCA3 deficiency skos:narrowMatch OMIM:610921 semapv:UnspecifiedMatching +GARD:17746 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch Orphanet:440427 semapv:UnspecifiedMatching +GARD:17746 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:narrowMatch OMIM:615486 semapv:UnspecifiedMatching +GARD:17747 Ribose-5-P isomerase deficiency skos:exactMatch Orphanet:440706 semapv:UnspecifiedMatching +GARD:17747 Ribose-5-P isomerase deficiency skos:narrowMatch OMIM:608611 semapv:UnspecifiedMatching +GARD:17748 L-ferritin deficiency skos:exactMatch Orphanet:440731 semapv:UnspecifiedMatching +GARD:17748 L-ferritin deficiency skos:narrowMatch OMIM:615604 semapv:UnspecifiedMatching +GARD:17749 Sporadic porphyria cutanea tarda skos:exactMatch Orphanet:443057 semapv:UnspecifiedMatching +GARD:17749 Sporadic porphyria cutanea tarda skos:narrowMatch OMIM:176090 semapv:UnspecifiedMatching +GARD:17750 Familial porphyria cutanea tarda skos:exactMatch Orphanet:443062 semapv:UnspecifiedMatching +GARD:17750 Familial porphyria cutanea tarda skos:narrowMatch OMIM:176100 semapv:UnspecifiedMatching +GARD:17751 Charcot-Marie-Tooth disease type 2S skos:exactMatch Orphanet:443073 semapv:UnspecifiedMatching +GARD:17751 Charcot-Marie-Tooth disease type 2S skos:narrowMatch OMIM:616155 semapv:UnspecifiedMatching +GARD:17752 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch Orphanet:443087 semapv:UnspecifiedMatching +GARD:17752 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:narrowMatch OMIM:614279 semapv:UnspecifiedMatching +GARD:17753 Hyperostosis cranialis interna skos:exactMatch Orphanet:443098 semapv:UnspecifiedMatching +GARD:17753 Hyperostosis cranialis interna skos:narrowMatch OMIM:144755 semapv:UnspecifiedMatching +GARD:17754 Classic stiff person syndrome skos:exactMatch Orphanet:443192 semapv:UnspecifiedMatching +GARD:17754 Classic stiff person syndrome skos:narrowMatch OMIM:184850 semapv:UnspecifiedMatching +GARD:17755 X-linked erythropoietic protoporphyria skos:exactMatch Orphanet:443197 semapv:UnspecifiedMatching +GARD:17755 X-linked erythropoietic protoporphyria skos:narrowMatch OMIM:300752 semapv:UnspecifiedMatching +GARD:17756 Focal stiff limb syndrome skos:exactMatch Orphanet:443804 semapv:UnspecifiedMatching +GARD:17756 Focal stiff limb syndrome skos:narrowMatch OMIM:184850 semapv:UnspecifiedMatching +GARD:17757 Ventriculomegaly-cystic kidney disease skos:exactMatch Orphanet:443988 semapv:UnspecifiedMatching +GARD:17757 Ventriculomegaly-cystic kidney disease skos:narrowMatch OMIM:219730 semapv:UnspecifiedMatching +GARD:17758 Mandibulofacial dysostosis with alopecia skos:exactMatch Orphanet:443995 semapv:UnspecifiedMatching +GARD:17758 Mandibulofacial dysostosis with alopecia skos:narrowMatch OMIM:616367 semapv:UnspecifiedMatching +GARD:17759 Combined oxidative phosphorylation defect type 23 skos:exactMatch Orphanet:444013 semapv:UnspecifiedMatching +GARD:17759 Combined oxidative phosphorylation defect type 23 skos:narrowMatch OMIM:616198 semapv:UnspecifiedMatching +GARD:17760 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch Orphanet:444048 semapv:UnspecifiedMatching +GARD:17760 46,XX ovarian dysgenesis-short stature syndrome skos:narrowMatch OMIM:616185 semapv:UnspecifiedMatching +GARD:17761 Cerebellar-facial-dental syndrome skos:exactMatch Orphanet:444072 semapv:UnspecifiedMatching +GARD:17761 Cerebellar-facial-dental syndrome skos:narrowMatch OMIM:616202 semapv:UnspecifiedMatching +GARD:17762 Autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch Orphanet:444092 semapv:UnspecifiedMatching +GARD:17762 Autoimmune interstitial lung disease-arthritis syndrome skos:narrowMatch OMIM:616414 semapv:UnspecifiedMatching +GARD:17763 Autosomal dominant spastic paraplegia type 73 skos:exactMatch Orphanet:444099 semapv:UnspecifiedMatching +GARD:17763 Autosomal dominant spastic paraplegia type 73 skos:narrowMatch OMIM:616282 semapv:UnspecifiedMatching +GARD:17764 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch Orphanet:444138 semapv:UnspecifiedMatching +GARD:17764 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:narrowMatch OMIM:616295 semapv:UnspecifiedMatching +GARD:17765 Combined oxidative phosphorylation defect type 24 skos:exactMatch Orphanet:444458 semapv:UnspecifiedMatching +GARD:17765 Combined oxidative phosphorylation defect type 24 skos:narrowMatch OMIM:616239 semapv:UnspecifiedMatching +GARD:17766 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:exactMatch Orphanet:444463 semapv:UnspecifiedMatching +GARD:17766 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:narrowMatch OMIM:619220 semapv:UnspecifiedMatching +GARD:17767 3-methylglutaconic aciduria type 7 skos:exactMatch Orphanet:445038 semapv:UnspecifiedMatching +GARD:17767 3-methylglutaconic aciduria type 7 skos:narrowMatch OMIM:616271 semapv:UnspecifiedMatching +GARD:17768 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch Orphanet:445062 semapv:UnspecifiedMatching +GARD:17768 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:narrowMatch OMIM:616192 semapv:UnspecifiedMatching +GARD:17769 Limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch Orphanet:445110 semapv:UnspecifiedMatching +GARD:17769 Limb-girdle muscular dystrophy due to POMK deficiency skos:narrowMatch OMIM:616094 semapv:UnspecifiedMatching +GARD:17770 Autosomal recessive spastic paraplegia type 9B skos:exactMatch Orphanet:447760 semapv:UnspecifiedMatching +GARD:17770 Autosomal recessive spastic paraplegia type 9B skos:narrowMatch OMIM:616586 semapv:UnspecifiedMatching +GARD:17771 Mitochondrial pyruvate carrier deficiency skos:exactMatch Orphanet:447784 semapv:UnspecifiedMatching +GARD:17771 Mitochondrial pyruvate carrier deficiency skos:narrowMatch OMIM:614741 semapv:UnspecifiedMatching +GARD:17772 Polymerase proofreading-related adenomatous polyposis skos:exactMatch Orphanet:447877 semapv:UnspecifiedMatching +GARD:17772 Polymerase proofreading-related adenomatous polyposis skos:narrowMatch OMIM:612591 semapv:UnspecifiedMatching +GARD:17772 Polymerase proofreading-related adenomatous polyposis skos:narrowMatch OMIM:615083 semapv:UnspecifiedMatching +GARD:17773 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch Orphanet:447893 semapv:UnspecifiedMatching +GARD:17773 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +GARD:17774 Tremor-ataxia-central hypomyelination syndrome skos:exactMatch Orphanet:447896 semapv:UnspecifiedMatching +GARD:17774 Tremor-ataxia-central hypomyelination syndrome skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +GARD:17775 Combined oxidative phosphorylation defect type 25 skos:exactMatch Orphanet:447954 semapv:UnspecifiedMatching +GARD:17775 Combined oxidative phosphorylation defect type 25 skos:narrowMatch OMIM:616430 semapv:UnspecifiedMatching +GARD:17776 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch Orphanet:447961 semapv:UnspecifiedMatching +GARD:17776 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:narrowMatch OMIM:618373 semapv:UnspecifiedMatching +GARD:17777 Autosomal dominant Charcot-Marie-Tooth disease type 2V skos:exactMatch Orphanet:447964 semapv:UnspecifiedMatching +GARD:17777 Autosomal dominant Charcot-Marie-Tooth disease type 2V skos:narrowMatch OMIM:616491 semapv:UnspecifiedMatching +GARD:17778 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch Orphanet:447974 semapv:UnspecifiedMatching +GARD:17778 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:narrowMatch OMIM:616549 semapv:UnspecifiedMatching +GARD:17779 Progressive scapulohumeroperoneal distal myopathy skos:exactMatch Orphanet:447977 semapv:UnspecifiedMatching +GARD:17779 Progressive scapulohumeroperoneal distal myopathy skos:narrowMatch OMIM:616852 semapv:UnspecifiedMatching +GARD:17780 Progressive autosomal recessive ataxia-deafness syndrome skos:exactMatch Orphanet:448251 semapv:UnspecifiedMatching +GARD:17780 Progressive autosomal recessive ataxia-deafness syndrome skos:narrowMatch OMIM:616291 semapv:UnspecifiedMatching +GARD:17781 Isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:448264 semapv:UnspecifiedMatching +GARD:17781 Isolated focal non-epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:613000 semapv:UnspecifiedMatching +GARD:17781 Isolated focal non-epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:616400 semapv:UnspecifiedMatching +GARD:17782 Regressive spondylometaphyseal dysplasia skos:exactMatch Orphanet:448267 semapv:UnspecifiedMatching +GARD:17782 Regressive spondylometaphyseal dysplasia skos:narrowMatch OMIM:618019 semapv:UnspecifiedMatching +GARD:17783 Symptomatic form of fragile X syndrome in female carriers skos:exactMatch Orphanet:449291 semapv:UnspecifiedMatching +GARD:17783 Symptomatic form of fragile X syndrome in female carriers skos:narrowMatch OMIM:300624 semapv:UnspecifiedMatching +GARD:17784 Familial congenital nasolacrimal duct obstruction skos:exactMatch Orphanet:451612 semapv:UnspecifiedMatching +GARD:17784 Familial congenital nasolacrimal duct obstruction skos:narrowMatch OMIM:149700 semapv:UnspecifiedMatching +GARD:17785 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome skos:exactMatch Orphanet:453499 semapv:UnspecifiedMatching +GARD:17785 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome skos:narrowMatch OMIM:616580 semapv:UnspecifiedMatching +GARD:17786 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency skos:exactMatch Orphanet:453521 semapv:UnspecifiedMatching +GARD:17786 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency skos:narrowMatch OMIM:616127 semapv:UnspecifiedMatching +GARD:17787 Polyendocrine-polyneuropathy syndrome skos:exactMatch Orphanet:453533 semapv:UnspecifiedMatching +GARD:17787 Polyendocrine-polyneuropathy syndrome skos:narrowMatch OMIM:616113 semapv:UnspecifiedMatching +GARD:17788 Acquired Creutzfeldt-Jakob disease skos:exactMatch Orphanet:454700 semapv:UnspecifiedMatching +GARD:17788 Acquired Creutzfeldt-Jakob disease skos:narrowMatch OMIM:123400 semapv:UnspecifiedMatching +GARD:17789 Pleomorphic salivary gland adenoma skos:exactMatch Orphanet:454821 semapv:UnspecifiedMatching +GARD:17789 Pleomorphic salivary gland adenoma skos:narrowMatch OMIM:181030 semapv:UnspecifiedMatching +GARD:17790 NTHL1-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:454840 semapv:UnspecifiedMatching +GARD:17790 NTHL1-related attenuated familial adenomatous polyposis skos:narrowMatch OMIM:616415 semapv:UnspecifiedMatching +GARD:17791 Infantile multisystem neurologic-endocrine-pancreatic disease skos:exactMatch Orphanet:456312 semapv:UnspecifiedMatching +GARD:17791 Infantile multisystem neurologic-endocrine-pancreatic disease skos:narrowMatch OMIM:616263 semapv:UnspecifiedMatching +GARD:17792 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch Orphanet:456328 semapv:UnspecifiedMatching +GARD:17792 X-linked myotubular myopathy-abnormal genitalia syndrome skos:narrowMatch OMIM:300219 semapv:UnspecifiedMatching +GARD:17793 Polyglucosan body myopathy type 2 skos:exactMatch Orphanet:456369 semapv:UnspecifiedMatching +GARD:17793 Polyglucosan body myopathy type 2 skos:narrowMatch OMIM:616199 semapv:UnspecifiedMatching +GARD:17794 Autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch Orphanet:457050 semapv:UnspecifiedMatching +GARD:17794 Autosomal dominant mitochondrial myopathy with exercise intolerance skos:narrowMatch OMIM:616209 semapv:UnspecifiedMatching +GARD:17795 Predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch Orphanet:457088 semapv:UnspecifiedMatching +GARD:17795 Predisposition to invasive fungal disease due to CARD9 deficiency skos:narrowMatch OMIM:212050 semapv:UnspecifiedMatching +GARD:17796 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch Orphanet:457185 semapv:UnspecifiedMatching +GARD:17796 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:narrowMatch OMIM:616276 semapv:UnspecifiedMatching +GARD:17797 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch Orphanet:457193 semapv:UnspecifiedMatching +GARD:17797 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:narrowMatch OMIM:616268 semapv:UnspecifiedMatching +GARD:17798 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch Orphanet:457212 semapv:UnspecifiedMatching +GARD:17798 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:narrowMatch OMIM:616269 semapv:UnspecifiedMatching +GARD:17799 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:exactMatch Orphanet:457223 semapv:UnspecifiedMatching +GARD:17799 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:narrowMatch OMIM:617872 semapv:UnspecifiedMatching +GARD:178 MOMO syndrome skos:exactMatch Orphanet:2563 semapv:UnspecifiedMatching +GARD:178 MOMO syndrome skos:narrowMatch OMIM:157980 semapv:UnspecifiedMatching +GARD:17800 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch Orphanet:457240 semapv:UnspecifiedMatching +GARD:17800 X-linked intellectual disability-short stature-overweight syndrome skos:narrowMatch OMIM:300957 semapv:UnspecifiedMatching +GARD:17801 Progressive myoclonic epilepsy type 9 skos:exactMatch Orphanet:457265 semapv:UnspecifiedMatching +GARD:17801 Progressive myoclonic epilepsy type 9 skos:narrowMatch OMIM:616540 semapv:UnspecifiedMatching +GARD:17802 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:exactMatch Orphanet:457279 semapv:UnspecifiedMatching +GARD:17802 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:narrowMatch OMIM:616355 semapv:UnspecifiedMatching +GARD:17803 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:457284 semapv:UnspecifiedMatching +GARD:17803 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:narrowMatch OMIM:616362 semapv:UnspecifiedMatching +GARD:17804 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:exactMatch Orphanet:457351 semapv:UnspecifiedMatching +GARD:17804 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:narrowMatch OMIM:616577 semapv:UnspecifiedMatching +GARD:17805 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:exactMatch Orphanet:457359 semapv:UnspecifiedMatching +GARD:17805 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:narrowMatch OMIM:617011 semapv:UnspecifiedMatching +GARD:17806 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement skos:exactMatch Orphanet:457375 semapv:UnspecifiedMatching +GARD:17806 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement skos:narrowMatch OMIM:616647 semapv:UnspecifiedMatching +GARD:17807 Complex lethal osteochondrodysplasia skos:exactMatch Orphanet:457378 semapv:UnspecifiedMatching +GARD:17807 Complex lethal osteochondrodysplasia skos:narrowMatch OMIM:616897 semapv:UnspecifiedMatching +GARD:17808 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:exactMatch Orphanet:457395 semapv:UnspecifiedMatching +GARD:17808 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:narrowMatch OMIM:616723 semapv:UnspecifiedMatching +GARD:17809 Multiple mitochondrial dysfunctions syndrome type 4 skos:exactMatch Orphanet:457406 semapv:UnspecifiedMatching +GARD:17809 Multiple mitochondrial dysfunctions syndrome type 4 skos:narrowMatch OMIM:616370 semapv:UnspecifiedMatching +GARD:17810 Spinocerebellar ataxia type 41 skos:exactMatch Orphanet:458798 semapv:UnspecifiedMatching +GARD:17810 Spinocerebellar ataxia type 41 skos:narrowMatch OMIM:616410 semapv:UnspecifiedMatching +GARD:17811 Spinocerebellar ataxia type 42 skos:exactMatch Orphanet:458803 semapv:UnspecifiedMatching +GARD:17811 Spinocerebellar ataxia type 42 skos:narrowMatch OMIM:616795 semapv:UnspecifiedMatching +GARD:17812 Spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch Orphanet:459051 semapv:UnspecifiedMatching +GARD:17812 Spondyloepiphyseal dysplasia, Stanescu type skos:narrowMatch OMIM:616583 semapv:UnspecifiedMatching +GARD:17813 Autosomal recessive spastic paraplegia type 75 skos:exactMatch Orphanet:459056 semapv:UnspecifiedMatching +GARD:17813 Autosomal recessive spastic paraplegia type 75 skos:narrowMatch OMIM:616680 semapv:UnspecifiedMatching +GARD:17814 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome skos:exactMatch Orphanet:459061 semapv:UnspecifiedMatching +GARD:17814 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome skos:narrowMatch OMIM:616901 semapv:UnspecifiedMatching +GARD:17815 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:exactMatch Orphanet:459070 semapv:UnspecifiedMatching +GARD:17815 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:narrowMatch OMIM:300998 semapv:UnspecifiedMatching +GARD:17816 Spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch Orphanet:464282 semapv:UnspecifiedMatching +GARD:17816 Spastic paraplegia-severe developmental delay-epilepsy syndrome skos:narrowMatch OMIM:616756 semapv:UnspecifiedMatching +GARD:17817 Short stature-brachydactyly-obesity-global developmental delay syndrome skos:exactMatch Orphanet:464288 semapv:UnspecifiedMatching +GARD:17817 Short stature-brachydactyly-obesity-global developmental delay syndrome skos:narrowMatch OMIM:617157 semapv:UnspecifiedMatching +GARD:17818 NEK9-related lethal skeletal dysplasia skos:exactMatch Orphanet:464366 semapv:UnspecifiedMatching +GARD:17818 NEK9-related lethal skeletal dysplasia skos:narrowMatch OMIM:617022 semapv:UnspecifiedMatching +GARD:17819 Primary dystonia, DYT27 type skos:exactMatch Orphanet:464440 semapv:UnspecifiedMatching +GARD:17819 Primary dystonia, DYT27 type skos:narrowMatch OMIM:616411 semapv:UnspecifiedMatching +GARD:17820 Fever-associated acute infantile liver failure syndrome skos:exactMatch Orphanet:464724 semapv:UnspecifiedMatching +GARD:17820 Fever-associated acute infantile liver failure syndrome skos:narrowMatch OMIM:616483 semapv:UnspecifiedMatching +GARD:17820 Fever-associated acute infantile liver failure syndrome skos:narrowMatch OMIM:618641 semapv:UnspecifiedMatching +GARD:17821 Basel-Vanagaite-Smirin-Yosef syndrome skos:exactMatch Orphanet:464738 semapv:UnspecifiedMatching +GARD:17821 Basel-Vanagaite-Smirin-Yosef syndrome skos:narrowMatch OMIM:616449 semapv:UnspecifiedMatching +GARD:17822 Familial cavitary optic disc anomaly skos:exactMatch Orphanet:464760 semapv:UnspecifiedMatching +GARD:17822 Familial cavitary optic disc anomaly skos:narrowMatch OMIM:611543 semapv:UnspecifiedMatching +GARD:17823 Fetal encasement syndrome skos:exactMatch Orphanet:465824 semapv:UnspecifiedMatching +GARD:17823 Fetal encasement syndrome skos:narrowMatch OMIM:613630 semapv:UnspecifiedMatching +GARD:17824 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:exactMatch Orphanet:466688 semapv:UnspecifiedMatching +GARD:17824 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:narrowMatch OMIM:616819 semapv:UnspecifiedMatching +GARD:17825 TMEM199-CDG skos:exactMatch Orphanet:466703 semapv:UnspecifiedMatching +GARD:17825 TMEM199-CDG skos:narrowMatch OMIM:616829 semapv:UnspecifiedMatching +GARD:17826 Martinique crinkled retinal pigment epitheliopathy skos:exactMatch Orphanet:466718 semapv:UnspecifiedMatching +GARD:17826 Martinique crinkled retinal pigment epitheliopathy skos:narrowMatch OMIM:617111 semapv:UnspecifiedMatching +GARD:17827 Autosomal recessive spastic paraplegia type 77 skos:exactMatch Orphanet:466722 semapv:UnspecifiedMatching +GARD:17827 Autosomal recessive spastic paraplegia type 77 skos:narrowMatch OMIM:617046 semapv:UnspecifiedMatching +GARD:17828 Familial patent arterial duct skos:exactMatch Orphanet:466729 semapv:UnspecifiedMatching +GARD:17828 Familial patent arterial duct skos:narrowMatch OMIM:607411 semapv:UnspecifiedMatching +GARD:17828 Familial patent arterial duct skos:narrowMatch OMIM:617035 semapv:UnspecifiedMatching +GARD:17828 Familial patent arterial duct skos:narrowMatch OMIM:617039 semapv:UnspecifiedMatching +GARD:17829 Autosomal dominant Charcot-Marie-Tooth disease type 2Z skos:exactMatch Orphanet:466768 semapv:UnspecifiedMatching +GARD:17829 Autosomal dominant Charcot-Marie-Tooth disease type 2Z skos:narrowMatch OMIM:616688 semapv:UnspecifiedMatching +GARD:17830 Autosomal recessive Charcot-Marie-Tooth disease type 2X skos:exactMatch Orphanet:466775 semapv:UnspecifiedMatching +GARD:17830 Autosomal recessive Charcot-Marie-Tooth disease type 2X skos:narrowMatch OMIM:616668 semapv:UnspecifiedMatching +GARD:17831 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect skos:exactMatch Orphanet:466784 semapv:UnspecifiedMatching +GARD:17831 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect skos:narrowMatch OMIM:616794 semapv:UnspecifiedMatching +GARD:17832 Macrocephaly-intellectual disability-left ventricular non compaction syndrome skos:exactMatch Orphanet:466791 semapv:UnspecifiedMatching +GARD:17832 Macrocephaly-intellectual disability-left ventricular non compaction syndrome skos:narrowMatch OMIM:300967 semapv:UnspecifiedMatching +GARD:17833 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch Orphanet:466794 semapv:UnspecifiedMatching +GARD:17833 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:narrowMatch OMIM:616719 semapv:UnspecifiedMatching +GARD:17834 LIMS2-related limb-girdle muscular dystrophy skos:exactMatch Orphanet:466801 semapv:UnspecifiedMatching +GARD:17834 LIMS2-related limb-girdle muscular dystrophy skos:narrowMatch OMIM:616827 semapv:UnspecifiedMatching +GARD:17835 Autosomal dominant thrombocytopenia with platelet secretion defect skos:exactMatch Orphanet:466806 semapv:UnspecifiedMatching +GARD:17835 Autosomal dominant thrombocytopenia with platelet secretion defect skos:narrowMatch OMIM:616913 semapv:UnspecifiedMatching +GARD:17835 Autosomal dominant thrombocytopenia with platelet secretion defect skos:narrowMatch OMIM:619130 semapv:UnspecifiedMatching +GARD:17836 Seizures-scoliosis-macrocephaly syndrome skos:exactMatch Orphanet:466926 semapv:UnspecifiedMatching +GARD:17836 Seizures-scoliosis-macrocephaly syndrome skos:narrowMatch OMIM:616682 semapv:UnspecifiedMatching +GARD:17837 VPS11-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:466934 semapv:UnspecifiedMatching +GARD:17837 VPS11-related autosomal recessive hypomyelinating leukodystrophy skos:narrowMatch OMIM:616683 semapv:UnspecifiedMatching +GARD:17838 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome skos:exactMatch Orphanet:466943 semapv:UnspecifiedMatching +GARD:17838 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome skos:narrowMatch OMIM:616708 semapv:UnspecifiedMatching +GARD:17839 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation skos:exactMatch Orphanet:466950 semapv:UnspecifiedMatching +GARD:17839 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation skos:narrowMatch OMIM:616708 semapv:UnspecifiedMatching +GARD:17840 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch Orphanet:467176 semapv:UnspecifiedMatching +GARD:17840 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:narrowMatch OMIM:616816 semapv:UnspecifiedMatching +GARD:17841 Microcephalic cortical malformations-short stature due to RTTN deficiency skos:exactMatch Orphanet:468631 semapv:UnspecifiedMatching +GARD:17841 Microcephalic cortical malformations-short stature due to RTTN deficiency skos:narrowMatch OMIM:614833 semapv:UnspecifiedMatching +GARD:17842 Autosomal recessive spastic paraplegia type 74 skos:exactMatch Orphanet:468661 semapv:UnspecifiedMatching +GARD:17842 Autosomal recessive spastic paraplegia type 74 skos:narrowMatch OMIM:616451 semapv:UnspecifiedMatching +GARD:17843 Isolated generalized anhidrosis with normal sweat glands skos:exactMatch Orphanet:468666 semapv:UnspecifiedMatching +GARD:17843 Isolated generalized anhidrosis with normal sweat glands skos:narrowMatch OMIM:106190 semapv:UnspecifiedMatching +GARD:17844 Colobomatous macrophthalmia-microcornea syndrome skos:exactMatch Orphanet:468672 semapv:UnspecifiedMatching +GARD:17844 Colobomatous macrophthalmia-microcornea syndrome skos:narrowMatch OMIM:602499 semapv:UnspecifiedMatching +GARD:17845 CCDC115-CDG skos:exactMatch Orphanet:468684 semapv:UnspecifiedMatching +GARD:17845 CCDC115-CDG skos:narrowMatch OMIM:616828 semapv:UnspecifiedMatching +GARD:17846 SLC39A8-CDG skos:exactMatch Orphanet:468699 semapv:UnspecifiedMatching +GARD:17846 SLC39A8-CDG skos:narrowMatch OMIM:616721 semapv:UnspecifiedMatching +GARD:17847 BVES-related limb-girdle muscular dystrophy skos:exactMatch Orphanet:476084 semapv:UnspecifiedMatching +GARD:17847 BVES-related limb-girdle muscular dystrophy skos:narrowMatch OMIM:616812 semapv:UnspecifiedMatching +GARD:17848 Hereditary pediatric Behçet-like disease skos:exactMatch Orphanet:476102 semapv:UnspecifiedMatching +GARD:17848 Hereditary pediatric Behçet-like disease skos:narrowMatch OMIM:616744 semapv:UnspecifiedMatching +GARD:17849 Combined immunodeficiency due to TFRC deficiency skos:exactMatch Orphanet:476113 semapv:UnspecifiedMatching +GARD:17849 Combined immunodeficiency due to TFRC deficiency skos:narrowMatch OMIM:616740 semapv:UnspecifiedMatching +GARD:17850 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch Orphanet:476126 semapv:UnspecifiedMatching +GARD:17850 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:narrowMatch OMIM:617061 semapv:UnspecifiedMatching +GARD:17851 PMP2-related Charcot-Marie-Tooth disease type 1 skos:exactMatch Orphanet:476394 semapv:UnspecifiedMatching +GARD:17851 PMP2-related Charcot-Marie-Tooth disease type 1 skos:narrowMatch OMIM:618279 semapv:UnspecifiedMatching +GARD:17852 IL21-related infantile inflammatory bowel disease skos:exactMatch Orphanet:477661 semapv:UnspecifiedMatching +GARD:17852 IL21-related infantile inflammatory bowel disease skos:narrowMatch OMIM:615767 semapv:UnspecifiedMatching +GARD:17853 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome skos:exactMatch Orphanet:477673 semapv:UnspecifiedMatching +GARD:17853 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome skos:narrowMatch OMIM:616281 semapv:UnspecifiedMatching +GARD:17854 Combined oxidative phosphorylation defect type 26 skos:exactMatch Orphanet:477684 semapv:UnspecifiedMatching +GARD:17854 Combined oxidative phosphorylation defect type 26 skos:narrowMatch OMIM:616539 semapv:UnspecifiedMatching +GARD:17855 Pontine autosomal dominant microangiopathy with leukoencephalopathy skos:exactMatch Orphanet:477749 semapv:UnspecifiedMatching +GARD:17855 Pontine autosomal dominant microangiopathy with leukoencephalopathy skos:narrowMatch OMIM:618564 semapv:UnspecifiedMatching +GARD:17856 Combined oxidative phosphorylation defect type 27 skos:exactMatch Orphanet:477774 semapv:UnspecifiedMatching +GARD:17856 Combined oxidative phosphorylation defect type 27 skos:narrowMatch OMIM:616672 semapv:UnspecifiedMatching +GARD:17857 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch Orphanet:477787 semapv:UnspecifiedMatching +GARD:17857 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:narrowMatch OMIM:618372 semapv:UnspecifiedMatching +GARD:17858 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:exactMatch Orphanet:477814 semapv:UnspecifiedMatching +GARD:17858 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:narrowMatch OMIM:616632 semapv:UnspecifiedMatching +GARD:17859 PMP22-RAI1 contiguous gene duplication syndrome skos:exactMatch Orphanet:477817 semapv:UnspecifiedMatching +GARD:17859 PMP22-RAI1 contiguous gene duplication syndrome skos:narrowMatch OMIM:616652 semapv:UnspecifiedMatching +GARD:17860 Kosaki overgrowth syndrome skos:exactMatch Orphanet:477831 semapv:UnspecifiedMatching +GARD:17860 Kosaki overgrowth syndrome skos:narrowMatch OMIM:616592 semapv:UnspecifiedMatching +GARD:17861 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch Orphanet:477857 semapv:UnspecifiedMatching +GARD:17861 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:narrowMatch OMIM:616622 semapv:UnspecifiedMatching +GARD:17862 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:477993 semapv:UnspecifiedMatching +GARD:17862 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:narrowMatch OMIM:616728 semapv:UnspecifiedMatching +GARD:17863 Combined oxidative phosphorylation defect type 29 skos:exactMatch Orphanet:478029 semapv:UnspecifiedMatching +GARD:17863 Combined oxidative phosphorylation defect type 29 skos:narrowMatch OMIM:616811 semapv:UnspecifiedMatching +GARD:17864 Combined oxidative phosphorylation defect type 30 skos:exactMatch Orphanet:478042 semapv:UnspecifiedMatching +GARD:17864 Combined oxidative phosphorylation defect type 30 skos:narrowMatch OMIM:616974 semapv:UnspecifiedMatching +GARD:17865 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch Orphanet:478049 semapv:UnspecifiedMatching +GARD:17865 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:narrowMatch OMIM:617228 semapv:UnspecifiedMatching +GARD:17866 Hereditary sensory and autonomic neuropathy type 8 skos:exactMatch Orphanet:478664 semapv:UnspecifiedMatching +GARD:17866 Hereditary sensory and autonomic neuropathy type 8 skos:narrowMatch OMIM:616488 semapv:UnspecifiedMatching +GARD:17867 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch Orphanet:480476 semapv:UnspecifiedMatching +GARD:17867 Progressive familial intrahepatic cholestasis type 5 skos:narrowMatch OMIM:617049 semapv:UnspecifiedMatching +GARD:17868 MSH3-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:480536 semapv:UnspecifiedMatching +GARD:17868 MSH3-related attenuated familial adenomatous polyposis skos:narrowMatch OMIM:617100 semapv:UnspecifiedMatching +GARD:17869 POGLUT1-related limb-girdle muscular dystrophy R21 skos:exactMatch Orphanet:480682 semapv:UnspecifiedMatching +GARD:17869 POGLUT1-related limb-girdle muscular dystrophy R21 skos:narrowMatch OMIM:617232 semapv:UnspecifiedMatching +GARD:17870 Hereditary thrombocytopenia with early-onset myelofibrosis skos:exactMatch Orphanet:480851 semapv:UnspecifiedMatching +GARD:17870 Hereditary thrombocytopenia with early-onset myelofibrosis skos:narrowMatch OMIM:616937 semapv:UnspecifiedMatching +GARD:17871 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:exactMatch Orphanet:480898 semapv:UnspecifiedMatching +GARD:17871 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:narrowMatch OMIM:616875 semapv:UnspecifiedMatching +GARD:17872 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:exactMatch Orphanet:480907 semapv:UnspecifiedMatching +GARD:17872 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:narrowMatch OMIM:300966 semapv:UnspecifiedMatching +GARD:17873 PYCR2-related microcephaly-progressive leukoencephalopathy skos:exactMatch Orphanet:481152 semapv:UnspecifiedMatching +GARD:17873 PYCR2-related microcephaly-progressive leukoencephalopathy skos:narrowMatch OMIM:616420 semapv:UnspecifiedMatching +GARD:17874 Familial Chilblain lupus skos:exactMatch Orphanet:481662 semapv:UnspecifiedMatching +GARD:17874 Familial Chilblain lupus skos:narrowMatch OMIM:610448 semapv:UnspecifiedMatching +GARD:17874 Familial Chilblain lupus skos:narrowMatch OMIM:614415 semapv:UnspecifiedMatching +GARD:17875 USP18 deficiency skos:exactMatch Orphanet:481665 semapv:UnspecifiedMatching +GARD:17875 USP18 deficiency skos:narrowMatch OMIM:617397 semapv:UnspecifiedMatching +GARD:17876 Familial schizencephaly skos:exactMatch Orphanet:481986 semapv:UnspecifiedMatching +GARD:17876 Familial schizencephaly skos:narrowMatch OMIM:269160 semapv:UnspecifiedMatching +GARD:17877 HTRA1-related autosomal dominant cerebral small vessel disease skos:exactMatch Orphanet:482077 semapv:UnspecifiedMatching +GARD:17877 HTRA1-related autosomal dominant cerebral small vessel disease skos:narrowMatch OMIM:616779 semapv:UnspecifiedMatching +GARD:17878 Adenylosuccinate synthetase-like 1-related distal myopathy skos:exactMatch Orphanet:482601 semapv:UnspecifiedMatching +GARD:17878 Adenylosuccinate synthetase-like 1-related distal myopathy skos:narrowMatch OMIM:617030 semapv:UnspecifiedMatching +GARD:17879 Acquired schizencephaly skos:exactMatch Orphanet:485275 semapv:UnspecifiedMatching +GARD:17879 Acquired schizencephaly skos:narrowMatch OMIM:269160 semapv:UnspecifiedMatching +GARD:17880 CLCN4-related X-linked intellectual disability syndrome skos:exactMatch Orphanet:485350 semapv:UnspecifiedMatching +GARD:17880 CLCN4-related X-linked intellectual disability syndrome skos:narrowMatch OMIM:300114 semapv:UnspecifiedMatching +GARD:17881 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch Orphanet:485421 semapv:UnspecifiedMatching +GARD:17881 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect skos:narrowMatch OMIM:617086 semapv:UnspecifiedMatching +GARD:17882 Prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching +GARD:17882 Prenatal-onset spinal muscular atrophy with congenital bone fractures skos:narrowMatch OMIM:616866 semapv:UnspecifiedMatching +GARD:17882 Prenatal-onset spinal muscular atrophy with congenital bone fractures skos:narrowMatch OMIM:616867 semapv:UnspecifiedMatching +GARD:17883 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch Orphanet:486815 semapv:UnspecifiedMatching +GARD:17883 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:narrowMatch OMIM:617066 semapv:UnspecifiedMatching +GARD:17884 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch Orphanet:487796 semapv:UnspecifiedMatching +GARD:17884 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:narrowMatch OMIM:616737 semapv:UnspecifiedMatching +GARD:17885 Pierpont syndrome skos:exactMatch Orphanet:487825 semapv:UnspecifiedMatching +GARD:17885 Pierpont syndrome skos:narrowMatch OMIM:602342 semapv:UnspecifiedMatching +GARD:17886 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:exactMatch Orphanet:488168 semapv:UnspecifiedMatching +GARD:17886 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:narrowMatch OMIM:616834 semapv:UnspecifiedMatching +GARD:17887 Female infertility due to oocyte meiotic arrest skos:exactMatch Orphanet:488191 semapv:UnspecifiedMatching +GARD:17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:616780 semapv:UnspecifiedMatching +GARD:17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:617743 semapv:UnspecifiedMatching +GARD:17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619009 semapv:UnspecifiedMatching +GARD:17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619011 semapv:UnspecifiedMatching +GARD:17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619176 semapv:UnspecifiedMatching +GARD:17888 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch Orphanet:488197 semapv:UnspecifiedMatching +GARD:17888 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:narrowMatch OMIM:616722 semapv:UnspecifiedMatching +GARD:17889 Split-foot malformation-mesoaxial polydactyly syndrome skos:exactMatch Orphanet:488232 semapv:UnspecifiedMatching +GARD:17889 Split-foot malformation-mesoaxial polydactyly syndrome skos:narrowMatch OMIM:616890 semapv:UnspecifiedMatching +GARD:17890 14q32 duplication syndrome skos:exactMatch Orphanet:488280 semapv:UnspecifiedMatching +GARD:17890 14q32 duplication syndrome skos:narrowMatch OMIM:616604 semapv:UnspecifiedMatching +GARD:17891 Autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch Orphanet:488333 semapv:UnspecifiedMatching +GARD:17891 Autosomal dominant Charcot-Marie-Tooth disease type 2W skos:narrowMatch OMIM:616625 semapv:UnspecifiedMatching +GARD:17892 Autosomal recessive spastic paraplegia type 76 skos:exactMatch Orphanet:488594 semapv:UnspecifiedMatching +GARD:17892 Autosomal recessive spastic paraplegia type 76 skos:narrowMatch OMIM:616907 semapv:UnspecifiedMatching +GARD:17893 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:exactMatch Orphanet:488613 semapv:UnspecifiedMatching +GARD:17893 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:narrowMatch OMIM:616973 semapv:UnspecifiedMatching +GARD:17894 Transketolase deficiency skos:exactMatch Orphanet:488618 semapv:UnspecifiedMatching +GARD:17894 Transketolase deficiency skos:narrowMatch OMIM:617044 semapv:UnspecifiedMatching +GARD:17895 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:exactMatch Orphanet:488627 semapv:UnspecifiedMatching +GARD:17895 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:narrowMatch OMIM:617051 semapv:UnspecifiedMatching +GARD:17896 TBCK-related intellectual disability syndrome skos:exactMatch Orphanet:488632 semapv:UnspecifiedMatching +GARD:17896 TBCK-related intellectual disability syndrome skos:narrowMatch OMIM:616900 semapv:UnspecifiedMatching +GARD:17897 Early-onset epilepsy-intellectual disability-brain anomalies syndrome skos:exactMatch Orphanet:488635 semapv:UnspecifiedMatching +GARD:17897 Early-onset epilepsy-intellectual disability-brain anomalies syndrome skos:narrowMatch OMIM:616917 semapv:UnspecifiedMatching +GARD:17898 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch Orphanet:488642 semapv:UnspecifiedMatching +GARD:17898 TELO2-related intellectual disability-neurodevelopmental disorder skos:narrowMatch OMIM:616954 semapv:UnspecifiedMatching +GARD:17899 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch Orphanet:488647 semapv:UnspecifiedMatching +GARD:17899 DDX41-related hematologic malignancy predisposition syndrome skos:narrowMatch OMIM:616871 semapv:UnspecifiedMatching +GARD:17900 Distal myopathy, Tateyama type skos:exactMatch Orphanet:488650 semapv:UnspecifiedMatching +GARD:17900 Distal myopathy, Tateyama type skos:narrowMatch OMIM:614321 semapv:UnspecifiedMatching +GARD:17901 Vibratory angioedema skos:exactMatch Orphanet:493348 semapv:UnspecifiedMatching +GARD:17901 Vibratory angioedema skos:narrowMatch OMIM:125630 semapv:UnspecifiedMatching +GARD:17902 RERE-related neurodevelopmental syndrome skos:exactMatch Orphanet:494344 semapv:UnspecifiedMatching +GARD:17902 RERE-related neurodevelopmental syndrome skos:narrowMatch OMIM:616975 semapv:UnspecifiedMatching +GARD:17903 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch Orphanet:494439 semapv:UnspecifiedMatching +GARD:17903 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:narrowMatch OMIM:617763 semapv:UnspecifiedMatching +GARD:17904 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:exactMatch Orphanet:494444 semapv:UnspecifiedMatching +GARD:17904 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:narrowMatch OMIM:124900 semapv:UnspecifiedMatching +GARD:17905 Infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch Orphanet:494526 semapv:UnspecifiedMatching +GARD:17905 Infantile-onset generalized dyskinesia with orofacial involvement skos:narrowMatch OMIM:616921 semapv:UnspecifiedMatching +GARD:17906 Childhood-onset benign chorea with striatal involvement skos:exactMatch Orphanet:494541 semapv:UnspecifiedMatching +GARD:17906 Childhood-onset benign chorea with striatal involvement skos:narrowMatch OMIM:616922 semapv:UnspecifiedMatching +GARD:17907 Squamous cell carcinoma of the hypopharynx skos:exactMatch Orphanet:494547 semapv:UnspecifiedMatching +GARD:17907 Squamous cell carcinoma of the hypopharynx skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +GARD:17908 Squamous cell carcinoma of the larynx skos:exactMatch Orphanet:494550 semapv:UnspecifiedMatching +GARD:17908 Squamous cell carcinoma of the larynx skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +GARD:17909 Charcot-Marie-Tooth disease type 2T skos:exactMatch Orphanet:495274 semapv:UnspecifiedMatching +GARD:17909 Charcot-Marie-Tooth disease type 2T skos:narrowMatch OMIM:617017 semapv:UnspecifiedMatching +GARD:17910 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:495844 semapv:UnspecifiedMatching +GARD:17910 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy skos:narrowMatch OMIM:616881 semapv:UnspecifiedMatching +GARD:17911 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch Orphanet:496641 semapv:UnspecifiedMatching +GARD:17911 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:narrowMatch OMIM:617193 semapv:UnspecifiedMatching +GARD:17912 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:exactMatch Orphanet:496686 semapv:UnspecifiedMatching +GARD:17912 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:narrowMatch OMIM:617114 semapv:UnspecifiedMatching +GARD:17913 EVEN-plus syndrome skos:exactMatch Orphanet:496751 semapv:UnspecifiedMatching +GARD:17913 EVEN-plus syndrome skos:narrowMatch OMIM:616854 semapv:UnspecifiedMatching +GARD:17914 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:exactMatch Orphanet:496756 semapv:UnspecifiedMatching +GARD:17914 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:narrowMatch OMIM:617207 semapv:UnspecifiedMatching +GARD:17915 Ocular anomalies-axonal neuropathy-developmental delay syndrome skos:exactMatch Orphanet:496790 semapv:UnspecifiedMatching +GARD:17915 Ocular anomalies-axonal neuropathy-developmental delay syndrome skos:narrowMatch OMIM:617183 semapv:UnspecifiedMatching +GARD:17916 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:exactMatch Orphanet:497757 semapv:UnspecifiedMatching +GARD:17916 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:narrowMatch OMIM:617017 semapv:UnspecifiedMatching +GARD:17917 Spinocerebellar ataxia type 43 skos:exactMatch Orphanet:497764 semapv:UnspecifiedMatching +GARD:17917 Spinocerebellar ataxia type 43 skos:narrowMatch OMIM:617017 semapv:UnspecifiedMatching +GARD:17918 Childhood-onset basal ganglia degeneration syndrome skos:exactMatch Orphanet:497906 semapv:UnspecifiedMatching +GARD:17918 Childhood-onset basal ganglia degeneration syndrome skos:narrowMatch OMIM:617054 semapv:UnspecifiedMatching +GARD:17919 Short rib-polydactyly syndrome type 5 skos:exactMatch Orphanet:498497 semapv:UnspecifiedMatching +GARD:17919 Short rib-polydactyly syndrome type 5 skos:narrowMatch OMIM:614091 semapv:UnspecifiedMatching +GARD:17920 16p13.2 microdeletion syndrome skos:exactMatch Orphanet:500055 semapv:UnspecifiedMatching +GARD:17920 16p13.2 microdeletion syndrome skos:narrowMatch OMIM:616863 semapv:UnspecifiedMatching +GARD:17921 Tall stature-intellectual disability-renal anomalies syndrome skos:exactMatch Orphanet:500095 semapv:UnspecifiedMatching +GARD:17921 Tall stature-intellectual disability-renal anomalies syndrome skos:narrowMatch OMIM:617107 semapv:UnspecifiedMatching +GARD:17922 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch Orphanet:500135 semapv:UnspecifiedMatching +GARD:17922 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:narrowMatch OMIM:236500 semapv:UnspecifiedMatching +GARD:17923 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:exactMatch Orphanet:500144 semapv:UnspecifiedMatching +GARD:17923 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:narrowMatch OMIM:617669 semapv:UnspecifiedMatching +GARD:17924 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom skos:exactMatch Orphanet:500159 semapv:UnspecifiedMatching +GARD:17924 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom skos:narrowMatch OMIM:617751 semapv:UnspecifiedMatching +GARD:17925 SIN3A-related intellectual disability syndrome due to a point mutation skos:exactMatch Orphanet:500166 semapv:UnspecifiedMatching +GARD:17925 SIN3A-related intellectual disability syndrome due to a point mutation skos:narrowMatch OMIM:613406 semapv:UnspecifiedMatching +GARD:17926 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch Orphanet:500188 semapv:UnspecifiedMatching +GARD:17926 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:narrowMatch OMIM:301018 semapv:UnspecifiedMatching +GARD:17927 Squamous cell carcinoma of the nasal cavity and paranasal sinuses skos:exactMatch Orphanet:500464 semapv:UnspecifiedMatching +GARD:17927 Squamous cell carcinoma of the nasal cavity and paranasal sinuses skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +GARD:17928 Squamous cell carcinoma of the oropharynx skos:exactMatch Orphanet:500478 semapv:UnspecifiedMatching +GARD:17928 Squamous cell carcinoma of the oropharynx skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +GARD:17929 Squamous cell carcinoma of salivary glands skos:exactMatch Orphanet:500481 semapv:UnspecifiedMatching +GARD:17929 Squamous cell carcinoma of salivary glands skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +GARD:17930 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract skos:exactMatch Orphanet:500545 semapv:UnspecifiedMatching +GARD:17930 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract skos:narrowMatch OMIM:617393 semapv:UnspecifiedMatching +GARD:17931 Osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 semapv:UnspecifiedMatching +GARD:17931 Osteosclerotic metaphyseal dysplasia skos:narrowMatch OMIM:615198 semapv:UnspecifiedMatching +GARD:17932 Squamous cell carcinoma of the oral cavity skos:exactMatch Orphanet:502363 semapv:UnspecifiedMatching +GARD:17932 Squamous cell carcinoma of the oral cavity skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +GARD:17933 Squamous cell carcinoma of the lip skos:exactMatch Orphanet:502366 semapv:UnspecifiedMatching +GARD:17933 Squamous cell carcinoma of the lip skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +GARD:17934 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch Orphanet:502423 semapv:UnspecifiedMatching +GARD:17934 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:narrowMatch OMIM:617675 semapv:UnspecifiedMatching +GARD:17935 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome skos:exactMatch Orphanet:502434 semapv:UnspecifiedMatching +GARD:17935 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome skos:narrowMatch OMIM:617635 semapv:UnspecifiedMatching +GARD:17936 Alkaline ceramidase 3 deficiency skos:exactMatch Orphanet:502444 semapv:UnspecifiedMatching +GARD:17936 Alkaline ceramidase 3 deficiency skos:narrowMatch OMIM:617762 semapv:UnspecifiedMatching +GARD:17937 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch Orphanet:504476 semapv:UnspecifiedMatching +GARD:17937 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:narrowMatch OMIM:614575 semapv:UnspecifiedMatching +GARD:17938 Severe combined immunodeficiency due to LAT deficiency skos:exactMatch Orphanet:504523 semapv:UnspecifiedMatching +GARD:17938 Severe combined immunodeficiency due to LAT deficiency skos:narrowMatch OMIM:617514 semapv:UnspecifiedMatching +GARD:17939 Combined immunodeficiency due to Moesin deficiency skos:exactMatch Orphanet:504530 semapv:UnspecifiedMatching +GARD:17939 Combined immunodeficiency due to Moesin deficiency skos:narrowMatch OMIM:300988 semapv:UnspecifiedMatching +GARD:17940 3-methylglutaconic aciduria type 9 skos:exactMatch Orphanet:505216 semapv:UnspecifiedMatching +GARD:17940 3-methylglutaconic aciduria type 9 skos:narrowMatch OMIM:617698 semapv:UnspecifiedMatching +GARD:17941 Combined immunodeficiency due to GINS1 deficiency skos:exactMatch Orphanet:505227 semapv:UnspecifiedMatching +GARD:17941 Combined immunodeficiency due to GINS1 deficiency skos:narrowMatch OMIM:617827 semapv:UnspecifiedMatching +GARD:17942 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome skos:exactMatch Orphanet:505237 semapv:UnspecifiedMatching +GARD:17942 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome skos:narrowMatch OMIM:617452 semapv:UnspecifiedMatching +GARD:17943 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch Orphanet:505242 semapv:UnspecifiedMatching +GARD:17943 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:narrowMatch OMIM:617595 semapv:UnspecifiedMatching +GARD:17944 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:exactMatch Orphanet:505248 semapv:UnspecifiedMatching +GARD:17944 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:narrowMatch OMIM:617303 semapv:UnspecifiedMatching +GARD:17945 Stromme syndrome skos:exactMatch Orphanet:506307 semapv:UnspecifiedMatching +GARD:17945 Stromme syndrome skos:narrowMatch OMIM:243605 semapv:UnspecifiedMatching +GARD:17946 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction skos:exactMatch Orphanet:506353 semapv:UnspecifiedMatching +GARD:17946 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction skos:narrowMatch OMIM:618768 semapv:UnspecifiedMatching +GARD:17947 Gabriele-de Vries syndrome skos:exactMatch Orphanet:506358 semapv:UnspecifiedMatching +GARD:17947 Gabriele-de Vries syndrome skos:narrowMatch OMIM:617557 semapv:UnspecifiedMatching +GARD:17948 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:exactMatch Orphanet:508498 semapv:UnspecifiedMatching +GARD:17948 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:narrowMatch OMIM:615583 semapv:UnspecifiedMatching +GARD:17949 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:exactMatch Orphanet:508512 semapv:UnspecifiedMatching +GARD:17949 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:narrowMatch OMIM:618097 semapv:UnspecifiedMatching +GARD:17950 Hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch Orphanet:508523 semapv:UnspecifiedMatching +GARD:17950 Hyperphenylalaninemia due to DNAJC12 deficiency skos:narrowMatch OMIM:617384 semapv:UnspecifiedMatching +GARD:17951 Intermediate epidermolysis bullosa simplex with cardiomyopathy skos:exactMatch Orphanet:508529 semapv:UnspecifiedMatching +GARD:17951 Intermediate epidermolysis bullosa simplex with cardiomyopathy skos:narrowMatch OMIM:617294 semapv:UnspecifiedMatching +GARD:17952 Autosomal recessive spastic paraplegia type 78 skos:exactMatch Orphanet:513436 semapv:UnspecifiedMatching +GARD:17952 Autosomal recessive spastic paraplegia type 78 skos:narrowMatch OMIM:617225 semapv:UnspecifiedMatching +GARD:17953 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome skos:exactMatch Orphanet:513456 semapv:UnspecifiedMatching +GARD:17953 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome skos:narrowMatch OMIM:617616 semapv:UnspecifiedMatching +GARD:17954 Autosomal recessive anterior segment dysgenesis skos:exactMatch Orphanet:519388 semapv:UnspecifiedMatching +GARD:17954 Autosomal recessive anterior segment dysgenesis skos:narrowMatch OMIM:617319 semapv:UnspecifiedMatching +GARD:17955 Xq25 microduplication syndrome skos:exactMatch Orphanet:521258 semapv:UnspecifiedMatching +GARD:17955 Xq25 microduplication syndrome skos:narrowMatch OMIM:300979 semapv:UnspecifiedMatching +GARD:17956 Proximal myopathy with focal depletion of mitochondria skos:exactMatch Orphanet:521305 semapv:UnspecifiedMatching +GARD:17956 Proximal myopathy with focal depletion of mitochondria skos:narrowMatch OMIM:600706 semapv:UnspecifiedMatching +GARD:17957 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome skos:exactMatch Orphanet:521390 semapv:UnspecifiedMatching +GARD:17957 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome skos:narrowMatch OMIM:617296 semapv:UnspecifiedMatching +GARD:17958 Dystonia-parkinsonism-hypermanganesemia syndrome skos:exactMatch Orphanet:521406 semapv:UnspecifiedMatching +GARD:17958 Dystonia-parkinsonism-hypermanganesemia syndrome skos:narrowMatch OMIM:617013 semapv:UnspecifiedMatching +GARD:17959 Autosomal dominant Charcot-Marie-Tooth disease type 2DD skos:exactMatch Orphanet:521414 semapv:UnspecifiedMatching +GARD:17959 Autosomal dominant Charcot-Marie-Tooth disease type 2DD skos:narrowMatch OMIM:618036 semapv:UnspecifiedMatching +GARD:17960 PLAA-associated neurodevelopmental disorder skos:exactMatch Orphanet:521426 semapv:UnspecifiedMatching +GARD:17960 PLAA-associated neurodevelopmental disorder skos:narrowMatch OMIM:617527 semapv:UnspecifiedMatching +GARD:17961 Congenital vertebral-cardiac-renal anomalies syndrome skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching +GARD:17961 Congenital vertebral-cardiac-renal anomalies syndrome skos:narrowMatch OMIM:617660 semapv:UnspecifiedMatching +GARD:17961 Congenital vertebral-cardiac-renal anomalies syndrome skos:narrowMatch OMIM:617661 semapv:UnspecifiedMatching +GARD:17961 Congenital vertebral-cardiac-renal anomalies syndrome skos:narrowMatch OMIM:618845 semapv:UnspecifiedMatching +GARD:17962 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch Orphanet:522077 semapv:UnspecifiedMatching +GARD:17962 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:narrowMatch OMIM:618218 semapv:UnspecifiedMatching +GARD:17963 Severe myopia-generalized joint laxity-short stature syndrome skos:exactMatch Orphanet:527450 semapv:UnspecifiedMatching +GARD:17963 Severe myopia-generalized joint laxity-short stature syndrome skos:narrowMatch OMIM:617662 semapv:UnspecifiedMatching +GARD:17964 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:527497 semapv:UnspecifiedMatching +GARD:17964 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy skos:narrowMatch OMIM:617560 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:301029 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:309590 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:606053 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:617755 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618009 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618292 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618342 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618430 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618470 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618569 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618653 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618659 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618906 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618914 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618922 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618971 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618974 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619000 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619005 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619031 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619056 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619072 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619076 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619083 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619091 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619092 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619099 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619125 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619149 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619157 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619239 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619243 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619244 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619264 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619268 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619306 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619314 semapv:UnspecifiedMatching +GARD:17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619320 semapv:UnspecifiedMatching +GARD:17966 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch Orphanet:528091 semapv:UnspecifiedMatching +GARD:17966 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:narrowMatch OMIM:617021 semapv:UnspecifiedMatching +GARD:17967 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome skos:exactMatch Orphanet:528105 semapv:UnspecifiedMatching +GARD:17967 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome skos:narrowMatch OMIM:617671 semapv:UnspecifiedMatching +GARD:17968 Duane retraction syndrome with congenital deafness skos:exactMatch Orphanet:529574 semapv:UnspecifiedMatching +GARD:17968 Duane retraction syndrome with congenital deafness skos:narrowMatch OMIM:617041 semapv:UnspecifiedMatching +GARD:17969 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome skos:exactMatch Orphanet:529665 semapv:UnspecifiedMatching +GARD:17969 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome skos:narrowMatch OMIM:617810 semapv:UnspecifiedMatching +GARD:17970 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome skos:exactMatch Orphanet:529965 semapv:UnspecifiedMatching +GARD:17970 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome skos:narrowMatch OMIM:617682 semapv:UnspecifiedMatching +GARD:17971 Male infertility due to acephalic spermatozoa skos:exactMatch Orphanet:529970 semapv:UnspecifiedMatching +GARD:17971 Male infertility due to acephalic spermatozoa skos:narrowMatch OMIM:617187 semapv:UnspecifiedMatching +GARD:17971 Male infertility due to acephalic spermatozoa skos:narrowMatch OMIM:618112 semapv:UnspecifiedMatching +GARD:17972 Mixed phenotype acute leukemia skos:exactMatch Orphanet:530995 semapv:UnspecifiedMatching +GARD:17972 Mixed phenotype acute leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:17973 Familial GPIHBP1 deficiency skos:exactMatch Orphanet:535458 semapv:UnspecifiedMatching +GARD:17973 Familial GPIHBP1 deficiency skos:narrowMatch OMIM:615947 semapv:UnspecifiedMatching +GARD:17974 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536467 semapv:UnspecifiedMatching +GARD:17974 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome skos:narrowMatch OMIM:615349 semapv:UnspecifiedMatching +GARD:17975 Classical-like Ehlers-Danlos syndrome type 2 skos:exactMatch Orphanet:536532 semapv:UnspecifiedMatching +GARD:17975 Classical-like Ehlers-Danlos syndrome type 2 skos:narrowMatch OMIM:618000 semapv:UnspecifiedMatching +GARD:17976 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy skos:exactMatch Orphanet:538096 semapv:UnspecifiedMatching +GARD:17976 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy skos:narrowMatch OMIM:604431 semapv:UnspecifiedMatching +GARD:17977 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch Orphanet:538574 semapv:UnspecifiedMatching +GARD:17977 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:narrowMatch OMIM:148360 semapv:UnspecifiedMatching +GARD:17978 Combined immunodeficiency due to CD70 deficiency skos:exactMatch Orphanet:538958 semapv:UnspecifiedMatching +GARD:17978 Combined immunodeficiency due to CD70 deficiency skos:narrowMatch OMIM:618261 semapv:UnspecifiedMatching +GARD:17979 Combined immunodeficiency due to ITK deficiency skos:exactMatch Orphanet:538963 semapv:UnspecifiedMatching +GARD:17979 Combined immunodeficiency due to ITK deficiency skos:narrowMatch OMIM:613011 semapv:UnspecifiedMatching +GARD:17980 Growth delay-intellectual disability-hepatopathy syndrome skos:exactMatch Orphanet:541423 semapv:UnspecifiedMatching +GARD:17980 Growth delay-intellectual disability-hepatopathy syndrome skos:narrowMatch OMIM:617093 semapv:UnspecifiedMatching +GARD:17981 Combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch Orphanet:542301 semapv:UnspecifiedMatching +GARD:17981 Combined immunodeficiency due to CARMIL2 deficiency skos:narrowMatch OMIM:618131 semapv:UnspecifiedMatching +GARD:17982 GNB5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch Orphanet:542306 semapv:UnspecifiedMatching +GARD:17982 GNB5-related intellectual disability-cardiac arrhythmia syndrome skos:narrowMatch OMIM:617173 semapv:UnspecifiedMatching +GARD:17983 Auditory neuropathy-optic atrophy syndrome skos:exactMatch Orphanet:542585 semapv:UnspecifiedMatching +GARD:17983 Auditory neuropathy-optic atrophy syndrome skos:narrowMatch OMIM:617717 semapv:UnspecifiedMatching +GARD:17984 Isolated hyperchlorhidrosis skos:exactMatch Orphanet:542657 semapv:UnspecifiedMatching +GARD:17984 Isolated hyperchlorhidrosis skos:narrowMatch OMIM:143860 semapv:UnspecifiedMatching +GARD:17985 PRUNE1-related neurological syndrome skos:exactMatch Orphanet:544469 semapv:UnspecifiedMatching +GARD:17985 PRUNE1-related neurological syndrome skos:narrowMatch OMIM:617481 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:exactMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:235400 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612922 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612923 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612924 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612925 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612926 semapv:UnspecifiedMatching +GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +GARD:17987 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome skos:exactMatch Orphanet:544488 semapv:UnspecifiedMatching +GARD:17987 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome skos:narrowMatch OMIM:619075 semapv:UnspecifiedMatching +GARD:17988 RNF13-related severe early-onset epileptic encephalopathy skos:exactMatch Orphanet:544503 semapv:UnspecifiedMatching +GARD:17988 RNF13-related severe early-onset epileptic encephalopathy skos:narrowMatch OMIM:618379 semapv:UnspecifiedMatching +GARD:17989 Congenital myopathy with reduced type 2 muscle fibers skos:exactMatch Orphanet:544602 semapv:UnspecifiedMatching +GARD:17989 Congenital myopathy with reduced type 2 muscle fibers skos:narrowMatch OMIM:618414 semapv:UnspecifiedMatching +GARD:17990 NAD(P)HX dehydratase deficiency skos:exactMatch Orphanet:555402 semapv:UnspecifiedMatching +GARD:17990 NAD(P)HX dehydratase deficiency skos:narrowMatch OMIM:618321 semapv:UnspecifiedMatching +GARD:17991 NAD(P)HX epimerase deficiency skos:exactMatch Orphanet:555407 semapv:UnspecifiedMatching +GARD:17991 NAD(P)HX epimerase deficiency skos:narrowMatch OMIM:617186 semapv:UnspecifiedMatching +GARD:17992 Pancreatic agenesis-holoprosencephaly syndrome skos:exactMatch Orphanet:556955 semapv:UnspecifiedMatching +GARD:17992 Pancreatic agenesis-holoprosencephaly syndrome skos:narrowMatch OMIM:618500 semapv:UnspecifiedMatching +GARD:17993 Oculocerebrodental syndrome skos:exactMatch Orphanet:557003 semapv:UnspecifiedMatching +GARD:17993 Oculocerebrodental syndrome skos:narrowMatch OMIM:618440 semapv:UnspecifiedMatching +GARD:17994 Neonatal epileptic encephalopathy due to glutaminase deficiency skos:exactMatch Orphanet:557064 semapv:UnspecifiedMatching +GARD:17994 Neonatal epileptic encephalopathy due to glutaminase deficiency skos:narrowMatch OMIM:618328 semapv:UnspecifiedMatching +GARD:17995 Heme oxygenase-1 deficiency skos:exactMatch Orphanet:562509 semapv:UnspecifiedMatching +GARD:17995 Heme oxygenase-1 deficiency skos:narrowMatch OMIM:614034 semapv:UnspecifiedMatching +GARD:17996 Autosomal recessive extra-oral halitosis skos:exactMatch Orphanet:562538 semapv:UnspecifiedMatching +GARD:17996 Autosomal recessive extra-oral halitosis skos:narrowMatch OMIM:618148 semapv:UnspecifiedMatching +GARD:17997 Anterior maxillary protrusion-strabismus-intellectual disability syndrome skos:exactMatch Orphanet:562559 semapv:UnspecifiedMatching +GARD:17997 Anterior maxillary protrusion-strabismus-intellectual disability syndrome skos:narrowMatch OMIM:613671 semapv:UnspecifiedMatching +GARD:17998 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:562569 semapv:UnspecifiedMatching +GARD:17998 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome skos:narrowMatch OMIM:618316 semapv:UnspecifiedMatching +GARD:17999 Combined oxidative phosphorylation defect type 39 skos:exactMatch Orphanet:565624 semapv:UnspecifiedMatching +GARD:17999 Combined oxidative phosphorylation defect type 39 skos:narrowMatch OMIM:618397 semapv:UnspecifiedMatching +GARD:180 MYH9-related disease skos:exactMatch Orphanet:182050 semapv:UnspecifiedMatching +GARD:180 MYH9-related disease skos:narrowMatch OMIM:155100 semapv:UnspecifiedMatching +GARD:18000 Infantile inflammatory bowel disease with neurological involvement skos:exactMatch Orphanet:565788 semapv:UnspecifiedMatching +GARD:18000 Infantile inflammatory bowel disease with neurological involvement skos:narrowMatch OMIM:618213 semapv:UnspecifiedMatching +GARD:18001 Craniosynostosis-microretrognathia-severe intellectual disability syndrome skos:exactMatch Orphanet:565858 semapv:UnspecifiedMatching +GARD:18001 Craniosynostosis-microretrognathia-severe intellectual disability syndrome skos:narrowMatch OMIM:618265 semapv:UnspecifiedMatching +GARD:18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:exactMatch Orphanet:566243 semapv:UnspecifiedMatching +GARD:18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:narrowMatch OMIM:145650 semapv:UnspecifiedMatching +GARD:18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:narrowMatch OMIM:188570 semapv:UnspecifiedMatching +GARD:18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:narrowMatch OMIM:274300 semapv:UnspecifiedMatching +GARD:18003 Idiopathic steroid-resistant nephrotic syndrome skos:exactMatch Orphanet:567548 semapv:UnspecifiedMatching +GARD:18003 Idiopathic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:619263 semapv:UnspecifiedMatching +GARD:18004 Multiple mitochondrial dysfunctions syndrome type 6 skos:exactMatch Orphanet:569290 semapv:UnspecifiedMatching +GARD:18004 Multiple mitochondrial dysfunctions syndrome type 6 skos:narrowMatch OMIM:617954 semapv:UnspecifiedMatching +GARD:18005 Galactose mutarotase deficiency skos:exactMatch Orphanet:570422 semapv:UnspecifiedMatching +GARD:18005 Galactose mutarotase deficiency skos:narrowMatch OMIM:618881 semapv:UnspecifiedMatching +GARD:18006 QRSL1-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:570491 semapv:UnspecifiedMatching +GARD:18006 QRSL1-related combined oxidative phosphorylation defect skos:narrowMatch OMIM:618835 semapv:UnspecifiedMatching +GARD:18007 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome skos:exactMatch Orphanet:572013 semapv:UnspecifiedMatching +GARD:18007 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome skos:narrowMatch OMIM:618325 semapv:UnspecifiedMatching +GARD:18008 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:exactMatch Orphanet:572354 semapv:UnspecifiedMatching +GARD:18008 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:narrowMatch OMIM:110100 semapv:UnspecifiedMatching +GARD:18009 Brachydactyly type B1 skos:exactMatch Orphanet:572385 semapv:UnspecifiedMatching +GARD:18009 Brachydactyly type B1 skos:narrowMatch OMIM:113000 semapv:UnspecifiedMatching +GARD:18010 RFVT2-related riboflavin transporter deficiency skos:exactMatch Orphanet:572543 semapv:UnspecifiedMatching +GARD:18010 RFVT2-related riboflavin transporter deficiency skos:narrowMatch OMIM:211530 semapv:UnspecifiedMatching +GARD:18011 Microcephaly-micromelia syndrome skos:exactMatch Orphanet:572768 semapv:UnspecifiedMatching +GARD:18011 Microcephaly-micromelia syndrome skos:narrowMatch OMIM:251230 semapv:UnspecifiedMatching +GARD:18012 WARS2-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:572798 semapv:UnspecifiedMatching +GARD:18012 WARS2-related combined oxidative phosphorylation defect skos:narrowMatch OMIM:617710 semapv:UnspecifiedMatching +GARD:18013 SATB2-associated syndrome due to a pathogenic variant skos:exactMatch Orphanet:576283 semapv:UnspecifiedMatching +GARD:18013 SATB2-associated syndrome due to a pathogenic variant skos:narrowMatch OMIM:612313 semapv:UnspecifiedMatching +GARD:18014 NLRC4-related familial cold autoinflammatory syndrome skos:exactMatch Orphanet:576349 semapv:UnspecifiedMatching +GARD:18014 NLRC4-related familial cold autoinflammatory syndrome skos:narrowMatch OMIM:616115 semapv:UnspecifiedMatching +GARD:18015 QRICH1-related intellectual disability-chondrodysplasia syndrome skos:exactMatch Orphanet:580940 semapv:UnspecifiedMatching +GARD:18015 QRICH1-related intellectual disability-chondrodysplasia syndrome skos:narrowMatch OMIM:617982 semapv:UnspecifiedMatching +GARD:18016 Spondylometaphyseal dysplasia-corneal dystrophy syndrome skos:exactMatch Orphanet:589435 semapv:UnspecifiedMatching +GARD:18016 Spondylometaphyseal dysplasia-corneal dystrophy syndrome skos:narrowMatch OMIM:618961 semapv:UnspecifiedMatching +GARD:18017 Oculocutaneous albinism type 8 skos:exactMatch Orphanet:597733 semapv:UnspecifiedMatching +GARD:18017 Oculocutaneous albinism type 8 skos:narrowMatch OMIM:619165 semapv:UnspecifiedMatching +GARD:18018 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome skos:exactMatch Orphanet:597874 semapv:UnspecifiedMatching +GARD:18018 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome skos:narrowMatch OMIM:618367 semapv:UnspecifiedMatching +GARD:18019 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome skos:exactMatch Orphanet:598603 semapv:UnspecifiedMatching +GARD:18019 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome skos:narrowMatch OMIM:618381 semapv:UnspecifiedMatching +GARD:1802 Demodicidosis skos:exactMatch Orphanet:283 semapv:UnspecifiedMatching +GARD:18020 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:exactMatch Orphanet:603448 semapv:UnspecifiedMatching +GARD:18020 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:narrowMatch OMIM:619273 semapv:UnspecifiedMatching +GARD:18021 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome skos:exactMatch Orphanet:603494 semapv:UnspecifiedMatching +GARD:18021 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome skos:narrowMatch OMIM:617306 semapv:UnspecifiedMatching +GARD:18022 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome skos:exactMatch Orphanet:610569 semapv:UnspecifiedMatching +GARD:18022 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome skos:narrowMatch OMIM:617822 semapv:UnspecifiedMatching +GARD:18023 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome skos:exactMatch Orphanet:610573 semapv:UnspecifiedMatching +GARD:18023 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome skos:narrowMatch OMIM:619173 semapv:UnspecifiedMatching +GARD:18024 Oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch Orphanet:611201 semapv:UnspecifiedMatching +GARD:18024 Oculogastrointestinal-neurodevelopmental syndrome skos:narrowMatch OMIM:619318 semapv:UnspecifiedMatching +GARD:18025 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome skos:exactMatch Orphanet:611207 semapv:UnspecifiedMatching +GARD:18025 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome skos:narrowMatch OMIM:619260 semapv:UnspecifiedMatching +GARD:18026 Aplastic anemia-intellectual disability-dwarfism syndrome skos:exactMatch Orphanet:611216 semapv:UnspecifiedMatching +GARD:18026 Aplastic anemia-intellectual disability-dwarfism syndrome skos:narrowMatch OMIM:619151 semapv:UnspecifiedMatching +GARD:18027 EN1-related dorsoventral syndrome skos:exactMatch Orphanet:611223 semapv:UnspecifiedMatching +GARD:18027 EN1-related dorsoventral syndrome skos:narrowMatch OMIM:619217 semapv:UnspecifiedMatching +GARD:18027 EN1-related dorsoventral syndrome skos:narrowMatch OMIM:619218 semapv:UnspecifiedMatching +GARD:18028 Parkinsonism with polyneuropathy skos:exactMatch Orphanet:611237 semapv:UnspecifiedMatching +GARD:18028 Parkinsonism with polyneuropathy skos:narrowMatch OMIM:619279 semapv:UnspecifiedMatching +GARD:18029 Pontocerebellar hypoplasia type 11 skos:exactMatch Orphanet:611247 semapv:UnspecifiedMatching +GARD:18029 Pontocerebellar hypoplasia type 11 skos:narrowMatch OMIM:617695 semapv:UnspecifiedMatching +GARD:18030 Pontocerebellar hypoplasia type 12 skos:exactMatch Orphanet:611256 semapv:UnspecifiedMatching +GARD:18030 Pontocerebellar hypoplasia type 12 skos:narrowMatch OMIM:618266 semapv:UnspecifiedMatching +GARD:18031 Pontocerebellar hypoplasia type 13 skos:exactMatch Orphanet:613267 semapv:UnspecifiedMatching +GARD:18031 Pontocerebellar hypoplasia type 13 skos:narrowMatch OMIM:618606 semapv:UnspecifiedMatching +GARD:18032 Pontocerebellar hypoplasia type 14 skos:exactMatch Orphanet:613274 semapv:UnspecifiedMatching +GARD:18032 Pontocerebellar hypoplasia type 14 skos:narrowMatch OMIM:619301 semapv:UnspecifiedMatching +GARD:18032 Pontocerebellar hypoplasia type 14 skos:narrowMatch OMIM:619302 semapv:UnspecifiedMatching +GARD:18033 Spastic paraparesis-cataracts-speech delay syndrome skos:exactMatch Orphanet:615938 semapv:UnspecifiedMatching +GARD:18033 Spastic paraparesis-cataracts-speech delay syndrome skos:narrowMatch OMIM:619338 semapv:UnspecifiedMatching +GARD:18034 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome skos:exactMatch Orphanet:615954 semapv:UnspecifiedMatching +GARD:18034 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome skos:narrowMatch OMIM:618810 semapv:UnspecifiedMatching +GARD:18035 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate skos:exactMatch Orphanet:615964 semapv:UnspecifiedMatching +GARD:18035 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate skos:narrowMatch OMIM:618384 semapv:UnspecifiedMatching +GARD:18036 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:exactMatch Orphanet:615983 semapv:UnspecifiedMatching +GARD:18036 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:narrowMatch OMIM:618810 semapv:UnspecifiedMatching +GARD:18037 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:exactMatch Orphanet:615986 semapv:UnspecifiedMatching +GARD:18037 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:narrowMatch OMIM:618810 semapv:UnspecifiedMatching +GARD:18038 Lipodystrophy, familial partial, type 7 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +GARD:18038 Lipodystrophy, familial partial, type 7 skos:exactMatch OMIM:606721 semapv:UnspecifiedMatching +GARD:18039 Ovarian dysgenesis 1 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +GARD:18039 Ovarian dysgenesis 1 skos:exactMatch OMIM:233300 semapv:UnspecifiedMatching +GARD:1804 Dent disease type 1 skos:exactMatch Orphanet:93622 semapv:UnspecifiedMatching +GARD:1804 Dent disease type 1 skos:narrowMatch OMIM:300009 semapv:UnspecifiedMatching +GARD:1804 Dent disease type 1 skos:narrowMatch OMIM:300554 semapv:UnspecifiedMatching +GARD:1804 Dent disease type 1 skos:narrowMatch OMIM:308990 semapv:UnspecifiedMatching +GARD:1804 Dent disease type 1 skos:narrowMatch OMIM:310468 semapv:UnspecifiedMatching +GARD:18040 Ovarian dysgenesis 2 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +GARD:18040 Ovarian dysgenesis 2 skos:exactMatch OMIM:300510 semapv:UnspecifiedMatching +GARD:18041 Ovarian dysgenesis 3 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +GARD:18041 Ovarian dysgenesis 3 skos:exactMatch OMIM:614324 semapv:UnspecifiedMatching +GARD:18042 Ovarian dysgenesis 6 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +GARD:18042 Ovarian dysgenesis 6 skos:exactMatch OMIM:618078 semapv:UnspecifiedMatching +GARD:18043 Ovarian dysgenesis 7 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +GARD:18043 Ovarian dysgenesis 7 skos:exactMatch OMIM:618117 semapv:UnspecifiedMatching +GARD:18044 Premature ovarian failure 16 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +GARD:18044 Premature ovarian failure 16 skos:exactMatch OMIM:618723 semapv:UnspecifiedMatching +GARD:18045 Craniosynostosis 1 skos:broadMatch Orphanet:35093 semapv:UnspecifiedMatching +GARD:18045 Craniosynostosis 1 skos:broadMatch Orphanet:35099 semapv:UnspecifiedMatching +GARD:18045 Craniosynostosis 1 skos:exactMatch OMIM:123100 semapv:UnspecifiedMatching +GARD:18046 Craniosynostosis 5, susceptibility to skos:broadMatch Orphanet:35093 semapv:UnspecifiedMatching +GARD:18046 Craniosynostosis 5, susceptibility to skos:exactMatch OMIM:615529 semapv:UnspecifiedMatching +GARD:18047 Craniosynostosis 3 skos:broadMatch Orphanet:35099 semapv:UnspecifiedMatching +GARD:18047 Craniosynostosis 3 skos:exactMatch OMIM:615314 semapv:UnspecifiedMatching +GARD:18048 Craniosynostosis 6 skos:broadMatch Orphanet:35099 semapv:UnspecifiedMatching +GARD:18048 Craniosynostosis 6 skos:exactMatch OMIM:616602 semapv:UnspecifiedMatching +GARD:18049 Cornea plana 1, autosomal dominant skos:broadMatch Orphanet:53691 semapv:UnspecifiedMatching +GARD:18049 Cornea plana 1, autosomal dominant skos:exactMatch OMIM:121400 semapv:UnspecifiedMatching +GARD:18050 Cornea plana 2, autosomal recessive skos:broadMatch Orphanet:53691 semapv:UnspecifiedMatching +GARD:18050 Cornea plana 2, autosomal recessive skos:exactMatch OMIM:217300 semapv:UnspecifiedMatching +GARD:18051 Parietal foramina 1 skos:broadMatch Orphanet:60015 semapv:UnspecifiedMatching +GARD:18051 Parietal foramina 1 skos:exactMatch OMIM:168500 semapv:UnspecifiedMatching +GARD:18052 Parietal foramina 3 skos:broadMatch Orphanet:60015 semapv:UnspecifiedMatching +GARD:18052 Parietal foramina 3 skos:exactMatch OMIM:609566 semapv:UnspecifiedMatching +GARD:18053 Parietal foramina 2 skos:broadMatch Orphanet:60015 semapv:UnspecifiedMatching +GARD:18053 Parietal foramina 2 skos:exactMatch OMIM:609597 semapv:UnspecifiedMatching +GARD:18054 Bronchiectasis with or without elevated sweat chloride 1 skos:broadMatch Orphanet:60033 semapv:UnspecifiedMatching +GARD:18054 Bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch OMIM:211400 semapv:UnspecifiedMatching +GARD:18055 Bronchiectasis with or without elevated sweat chloride 2 skos:broadMatch Orphanet:60033 semapv:UnspecifiedMatching +GARD:18055 Bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch OMIM:613021 semapv:UnspecifiedMatching +GARD:18056 Bronchiectasis with or without elevated sweat chloride 3 skos:broadMatch Orphanet:60033 semapv:UnspecifiedMatching +GARD:18056 Bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch OMIM:613071 semapv:UnspecifiedMatching +GARD:18057 Epilepsy, childhood absence, susceptibility to, 1 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +GARD:18057 Epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch OMIM:600131 semapv:UnspecifiedMatching +GARD:18058 Febrile seizures, familial, 8 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +GARD:18058 Febrile seizures, familial, 8 skos:exactMatch OMIM:607681 semapv:UnspecifiedMatching +GARD:18059 Epilepsy, idiopathic generalized, susceptibility to, 13 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +GARD:18059 Epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch OMIM:611136 semapv:UnspecifiedMatching +GARD:1806 Dentin dysplasia type II skos:exactMatch Orphanet:99791 semapv:UnspecifiedMatching +GARD:1806 Dentin dysplasia type II skos:narrowMatch OMIM:125420 semapv:UnspecifiedMatching +GARD:18060 Epilepsy, childhood absence, susceptibility to, 6 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +GARD:18060 Epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch OMIM:611942 semapv:UnspecifiedMatching +GARD:18061 Epilepsy, childhood absence, susceptibility to, 5 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +GARD:18061 Epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch OMIM:612269 semapv:UnspecifiedMatching +GARD:18062 Ectodermal dysplasia 4, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +GARD:18062 Ectodermal dysplasia 4, hair/nail type skos:exactMatch OMIM:602032 semapv:UnspecifiedMatching +GARD:18063 Ectodermal dysplasia 5, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +GARD:18063 Ectodermal dysplasia 5, hair/nail type skos:exactMatch OMIM:614927 semapv:UnspecifiedMatching +GARD:18064 Ectodermal dysplasia 6, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +GARD:18064 Ectodermal dysplasia 6, hair/nail type skos:exactMatch OMIM:614928 semapv:UnspecifiedMatching +GARD:18065 Ectodermal dysplasia 7, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +GARD:18065 Ectodermal dysplasia 7, hair/nail type skos:exactMatch OMIM:614929 semapv:UnspecifiedMatching +GARD:18066 Ectodermal dysplasia 9, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +GARD:18066 Ectodermal dysplasia 9, hair/nail type skos:exactMatch OMIM:614931 semapv:UnspecifiedMatching +GARD:18067 Mitochondrial complex i deficiency, nuclear type 32 skos:broadMatch Orphanet:70474 semapv:UnspecifiedMatching +GARD:18067 Mitochondrial complex i deficiency, nuclear type 32 skos:exactMatch OMIM:618252 semapv:UnspecifiedMatching +GARD:18068 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:broadMatch Orphanet:71289 semapv:UnspecifiedMatching +GARD:18068 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:exactMatch OMIM:605432 semapv:UnspecifiedMatching +GARD:18069 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:broadMatch Orphanet:71289 semapv:UnspecifiedMatching +GARD:18069 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:exactMatch OMIM:616738 semapv:UnspecifiedMatching +GARD:1807 Dentin dysplasia type I skos:exactMatch Orphanet:99789 semapv:UnspecifiedMatching +GARD:18070 Cardiomyopathy, familial restrictive, 1 skos:broadMatch Orphanet:75249 semapv:UnspecifiedMatching +GARD:18070 Cardiomyopathy, familial restrictive, 1 skos:exactMatch OMIM:115210 semapv:UnspecifiedMatching +GARD:18071 Cardiomyopathy, familial restrictive, 2 skos:broadMatch Orphanet:75249 semapv:UnspecifiedMatching +GARD:18071 Cardiomyopathy, familial restrictive, 2 skos:exactMatch OMIM:609578 semapv:UnspecifiedMatching +GARD:18072 Cardiomyopathy, familial restrictive, 3 skos:broadMatch Orphanet:75249 semapv:UnspecifiedMatching +GARD:18072 Cardiomyopathy, familial restrictive, 3 skos:exactMatch OMIM:612422 semapv:UnspecifiedMatching +GARD:18073 Hyperpigmentation with or without hypopigmentation, familial progressive skos:broadMatch Orphanet:79146 semapv:UnspecifiedMatching +GARD:18073 Hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch OMIM:145250 semapv:UnspecifiedMatching +GARD:18074 Hyperpigmentation, familial progressive, 1 skos:broadMatch Orphanet:79146 semapv:UnspecifiedMatching +GARD:18074 Hyperpigmentation, familial progressive, 1 skos:exactMatch OMIM:614233 semapv:UnspecifiedMatching +GARD:18075 Hyperalphalipoproteinemia 1 skos:broadMatch Orphanet:79506 semapv:UnspecifiedMatching +GARD:18075 Hyperalphalipoproteinemia 1 skos:exactMatch OMIM:143470 semapv:UnspecifiedMatching +GARD:18076 Apolipoprotein c-iii deficiency skos:broadMatch Orphanet:79506 semapv:UnspecifiedMatching +GARD:18076 Apolipoprotein c-iii deficiency skos:exactMatch OMIM:614028 semapv:UnspecifiedMatching +GARD:18077 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:broadMatch Orphanet:83473 semapv:UnspecifiedMatching +GARD:18077 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch OMIM:603387 semapv:UnspecifiedMatching +GARD:18078 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:broadMatch Orphanet:83473 semapv:UnspecifiedMatching +GARD:18078 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch OMIM:615937 semapv:UnspecifiedMatching +GARD:18079 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:broadMatch Orphanet:83473 semapv:UnspecifiedMatching +GARD:18079 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:exactMatch OMIM:615938 semapv:UnspecifiedMatching +GARD:1808 Dentin dysplasia-sclerotic bones syndrome skos:exactMatch Orphanet:99792 semapv:UnspecifiedMatching +GARD:1808 Dentin dysplasia-sclerotic bones syndrome skos:narrowMatch OMIM:125440 semapv:UnspecifiedMatching +GARD:18080 Nephronophthisis 11 skos:broadMatch Orphanet:84081 semapv:UnspecifiedMatching +GARD:18080 Nephronophthisis 11 skos:exactMatch OMIM:613550 semapv:UnspecifiedMatching +GARD:18081 Nephronophthisis 19 skos:broadMatch Orphanet:84081 semapv:UnspecifiedMatching +GARD:18081 Nephronophthisis 19 skos:exactMatch OMIM:616217 semapv:UnspecifiedMatching +GARD:18082 Epilepsy, familial adult myoclonic, 1 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +GARD:18082 Epilepsy, familial adult myoclonic, 1 skos:exactMatch OMIM:601068 semapv:UnspecifiedMatching +GARD:18083 Epilepsy, familial adult myoclonic, 2 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +GARD:18083 Epilepsy, familial adult myoclonic, 2 skos:exactMatch OMIM:607876 semapv:UnspecifiedMatching +GARD:18084 Epilepsy, familial adult myoclonic, 3 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +GARD:18084 Epilepsy, familial adult myoclonic, 3 skos:exactMatch OMIM:613608 semapv:UnspecifiedMatching +GARD:18085 Epilepsy, familial adult myoclonic, 4 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +GARD:18085 Epilepsy, familial adult myoclonic, 4 skos:exactMatch OMIM:615127 semapv:UnspecifiedMatching +GARD:18086 Epilepsy, familial adult myoclonic, 5 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +GARD:18086 Epilepsy, familial adult myoclonic, 5 skos:exactMatch OMIM:615400 semapv:UnspecifiedMatching +GARD:18087 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:broadMatch Orphanet:88637 semapv:UnspecifiedMatching +GARD:18087 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch OMIM:607694 semapv:UnspecifiedMatching +GARD:18088 Leukodystrophy, hypomyelinating, 11 skos:broadMatch Orphanet:88637 semapv:UnspecifiedMatching +GARD:18088 Leukodystrophy, hypomyelinating, 11 skos:exactMatch OMIM:616494 semapv:UnspecifiedMatching +GARD:18089 Hemolytic anemia due to glutathione reductase deficiency skos:broadMatch Orphanet:90030 semapv:UnspecifiedMatching +GARD:18089 Hemolytic anemia due to glutathione reductase deficiency skos:exactMatch OMIM:618660 semapv:UnspecifiedMatching +GARD:18090 Hydrocephalus, congenital communicating, 1 skos:broadMatch Orphanet:90030 semapv:UnspecifiedMatching +GARD:18090 Hydrocephalus, congenital communicating, 1 skos:exactMatch OMIM:618667 semapv:UnspecifiedMatching +GARD:18091 Neuropathy, hereditary motor and sensory, type via, with optic atrophy skos:broadMatch Orphanet:90120 semapv:UnspecifiedMatching +GARD:18091 Neuropathy, hereditary motor and sensory, type via, with optic atrophy skos:exactMatch OMIM:601152 semapv:UnspecifiedMatching +GARD:18092 Neuropathy, hereditary motor and sensory, type vib, with optic atrophy skos:broadMatch Orphanet:90120 semapv:UnspecifiedMatching +GARD:18092 Neuropathy, hereditary motor and sensory, type vib, with optic atrophy skos:exactMatch OMIM:616505 semapv:UnspecifiedMatching +GARD:18093 Hypotrichosis 2 skos:broadMatch Orphanet:90368 semapv:UnspecifiedMatching +GARD:18093 Hypotrichosis 2 skos:exactMatch OMIM:146520 semapv:UnspecifiedMatching +GARD:18094 Hypotrichosis 3 skos:broadMatch Orphanet:90368 semapv:UnspecifiedMatching +GARD:18094 Hypotrichosis 3 skos:exactMatch OMIM:613981 semapv:UnspecifiedMatching +GARD:18095 Deafness, x-linked 3 skos:broadMatch Orphanet:90625 semapv:UnspecifiedMatching +GARD:18095 Deafness, x-linked 3 skos:exactMatch OMIM:300030 semapv:UnspecifiedMatching +GARD:18096 Deafness, x-linked 4 skos:broadMatch Orphanet:90625 semapv:UnspecifiedMatching +GARD:18096 Deafness, x-linked 4 skos:exactMatch OMIM:300066 semapv:UnspecifiedMatching +GARD:18097 Deafness, x-linked 6 skos:broadMatch Orphanet:90625 semapv:UnspecifiedMatching +GARD:18097 Deafness, x-linked 6 skos:exactMatch OMIM:300914 semapv:UnspecifiedMatching +GARD:18098 Deafness, x-linked 1 skos:broadMatch Orphanet:90625 semapv:UnspecifiedMatching +GARD:18098 Deafness, x-linked 1 skos:exactMatch OMIM:304500 semapv:UnspecifiedMatching +GARD:18099 Deafness, autosomal dominant 2a skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18099 Deafness, autosomal dominant 2a skos:exactMatch OMIM:600101 semapv:UnspecifiedMatching +GARD:181 Stargardt disease skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching +GARD:181 Stargardt disease skos:narrowMatch OMIM:248200 semapv:UnspecifiedMatching +GARD:181 Stargardt disease skos:narrowMatch OMIM:600110 semapv:UnspecifiedMatching +GARD:181 Stargardt disease skos:narrowMatch OMIM:603786 semapv:UnspecifiedMatching +GARD:1810 Radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch Orphanet:3270 semapv:UnspecifiedMatching +GARD:1810 Radioulnar synostosis-developmental delay-hypotonia syndrome skos:narrowMatch OMIM:266255 semapv:UnspecifiedMatching +GARD:18100 Deafness, autosomal dominant 4a skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18100 Deafness, autosomal dominant 4a skos:exactMatch OMIM:600652 semapv:UnspecifiedMatching +GARD:18101 Deafness, autosomal dominant 6 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18101 Deafness, autosomal dominant 6 skos:exactMatch OMIM:600965 semapv:UnspecifiedMatching +GARD:18102 Deafness, autosomal dominant 5 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18102 Deafness, autosomal dominant 5 skos:exactMatch OMIM:600994 semapv:UnspecifiedMatching +GARD:18103 Deafness, autosomal dominant 10 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18103 Deafness, autosomal dominant 10 skos:exactMatch OMIM:601316 semapv:UnspecifiedMatching +GARD:18104 Deafness, autosomal dominant 11 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18104 Deafness, autosomal dominant 11 skos:exactMatch OMIM:601317 semapv:UnspecifiedMatching +GARD:18105 Deafness, autosomal dominant 9 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18105 Deafness, autosomal dominant 9 skos:exactMatch OMIM:601369 semapv:UnspecifiedMatching +GARD:18106 Deafness, autosomal dominant 7 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18106 Deafness, autosomal dominant 7 skos:exactMatch OMIM:601412 semapv:UnspecifiedMatching +GARD:18107 Deafness, autosomal dominant 12 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18107 Deafness, autosomal dominant 12 skos:exactMatch OMIM:601543 semapv:UnspecifiedMatching +GARD:18108 Deafness, autosomal dominant 13 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18108 Deafness, autosomal dominant 13 skos:exactMatch OMIM:601868 semapv:UnspecifiedMatching +GARD:18109 Deafness, autosomal dominant 15 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18109 Deafness, autosomal dominant 15 skos:exactMatch OMIM:602459 semapv:UnspecifiedMatching +GARD:18110 Deafness, autosomal dominant 16 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18110 Deafness, autosomal dominant 16 skos:exactMatch OMIM:603964 semapv:UnspecifiedMatching +GARD:18111 Deafness, autosomal dominant 20 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18111 Deafness, autosomal dominant 20 skos:exactMatch OMIM:604717 semapv:UnspecifiedMatching +GARD:18112 Deafness, autosomal dominant 25 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18112 Deafness, autosomal dominant 25 skos:exactMatch OMIM:605583 semapv:UnspecifiedMatching +GARD:18113 Deafness, autosomal dominant 18 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18113 Deafness, autosomal dominant 18 skos:exactMatch OMIM:606012 semapv:UnspecifiedMatching +GARD:18114 Deafness, autosomal dominant 30 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18114 Deafness, autosomal dominant 30 skos:exactMatch OMIM:606451 semapv:UnspecifiedMatching +GARD:18115 Deafness, autosomal dominant 36 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18115 Deafness, autosomal dominant 36 skos:exactMatch OMIM:606705 semapv:UnspecifiedMatching +GARD:18116 Deafness, autosomal dominant 21 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18116 Deafness, autosomal dominant 21 skos:exactMatch OMIM:607017 semapv:UnspecifiedMatching +GARD:18117 Deafness, autosomal recessive skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18117 Deafness, autosomal recessive skos:exactMatch OMIM:607197 semapv:UnspecifiedMatching +GARD:18118 Deafness, autosomal dominant 44 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18118 Deafness, autosomal dominant 44 skos:exactMatch OMIM:607453 semapv:UnspecifiedMatching +GARD:18119 Deafness, autosomal dominant 52 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18119 Deafness, autosomal dominant 52 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching +GARD:18120 Deafness, autosomal dominant 48 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18120 Deafness, autosomal dominant 48 skos:exactMatch OMIM:607841 semapv:UnspecifiedMatching +GARD:18121 Deafness, autosomal dominant 41 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18121 Deafness, autosomal dominant 41 skos:exactMatch OMIM:608224 semapv:UnspecifiedMatching +GARD:18122 Deafness, autosomal dominant 49 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18122 Deafness, autosomal dominant 49 skos:exactMatch OMIM:608372 semapv:UnspecifiedMatching +GARD:18123 Deafness, autosomal dominant 43 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18123 Deafness, autosomal dominant 43 skos:exactMatch OMIM:608394 semapv:UnspecifiedMatching +GARD:18124 Deafness, autosomal dominant 28 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18124 Deafness, autosomal dominant 28 skos:exactMatch OMIM:608641 semapv:UnspecifiedMatching +GARD:18125 Deafness, autosomal dominant 31 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18125 Deafness, autosomal dominant 31 skos:exactMatch OMIM:608645 semapv:UnspecifiedMatching +GARD:18126 Deafness, autosomal dominant 47 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18126 Deafness, autosomal dominant 47 skos:exactMatch OMIM:608652 semapv:UnspecifiedMatching +GARD:18127 Auditory neuropathy, autosomal dominant 1 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18127 Auditory neuropathy, autosomal dominant 1 skos:exactMatch OMIM:609129 semapv:UnspecifiedMatching +GARD:18128 Deafness, autosomal dominant 27 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18128 Deafness, autosomal dominant 27 skos:exactMatch OMIM:612431 semapv:UnspecifiedMatching +GARD:18129 Deafness, autosomal dominant 59 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18129 Deafness, autosomal dominant 59 skos:exactMatch OMIM:612642 semapv:UnspecifiedMatching +GARD:1813 Dermatoleukodystrophy skos:exactMatch Orphanet:1659 semapv:UnspecifiedMatching +GARD:1813 Dermatoleukodystrophy skos:narrowMatch OMIM:221790 semapv:UnspecifiedMatching +GARD:18130 Deafness, autosomal dominant 3b skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18130 Deafness, autosomal dominant 3b skos:exactMatch OMIM:612643 semapv:UnspecifiedMatching +GARD:18131 Deafness, autosomal dominant 2b skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18131 Deafness, autosomal dominant 2b skos:exactMatch OMIM:612644 semapv:UnspecifiedMatching +GARD:18132 Deafness, autosomal dominant 50 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18132 Deafness, autosomal dominant 50 skos:exactMatch OMIM:613074 semapv:UnspecifiedMatching +GARD:18133 Deafness, autosomal dominant 51 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18133 Deafness, autosomal dominant 51 skos:exactMatch OMIM:613558 semapv:UnspecifiedMatching +GARD:18134 Deafness, autosomal dominant 64 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18134 Deafness, autosomal dominant 64 skos:exactMatch OMIM:614152 semapv:UnspecifiedMatching +GARD:18135 Deafness, autosomal dominant 33 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18135 Deafness, autosomal dominant 33 skos:exactMatch OMIM:614211 semapv:UnspecifiedMatching +GARD:18136 Deafness, autosomal dominant 4b skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18136 Deafness, autosomal dominant 4b skos:exactMatch OMIM:614614 semapv:UnspecifiedMatching +GARD:18137 Deafness, autosomal dominant 56 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18137 Deafness, autosomal dominant 56 skos:exactMatch OMIM:615629 semapv:UnspecifiedMatching +GARD:18138 Deafness, autosomal dominant 54 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18138 Deafness, autosomal dominant 54 skos:exactMatch OMIM:615649 semapv:UnspecifiedMatching +GARD:18139 Deafness, autosomal dominant 58 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18139 Deafness, autosomal dominant 58 skos:exactMatch OMIM:615654 semapv:UnspecifiedMatching +GARD:1814 Dermatoosteolysis, Kirghizian type skos:exactMatch Orphanet:1657 semapv:UnspecifiedMatching +GARD:1814 Dermatoosteolysis, Kirghizian type skos:narrowMatch OMIM:221810 semapv:UnspecifiedMatching +GARD:18140 Deafness, autosomal dominant 65 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18140 Deafness, autosomal dominant 65 skos:exactMatch OMIM:616044 semapv:UnspecifiedMatching +GARD:18141 Deafness, autosomal dominant 67 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18141 Deafness, autosomal dominant 67 skos:exactMatch OMIM:616340 semapv:UnspecifiedMatching +GARD:18142 Deafness, autosomal dominant 40 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18142 Deafness, autosomal dominant 40 skos:exactMatch OMIM:616357 semapv:UnspecifiedMatching +GARD:18143 Deafness, autosomal dominant 69 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18143 Deafness, autosomal dominant 69 skos:exactMatch OMIM:616697 semapv:UnspecifiedMatching +GARD:18144 Deafness, autosomal dominant 68 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18144 Deafness, autosomal dominant 68 skos:exactMatch OMIM:616707 semapv:UnspecifiedMatching +GARD:18145 Deafness, autosomal dominant 70 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18145 Deafness, autosomal dominant 70 skos:exactMatch OMIM:616968 semapv:UnspecifiedMatching +GARD:18146 Deafness, autosomal dominant 66 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18146 Deafness, autosomal dominant 66 skos:exactMatch OMIM:616969 semapv:UnspecifiedMatching +GARD:18147 Deafness, autosomal dominant 71 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18147 Deafness, autosomal dominant 71 skos:exactMatch OMIM:617605 semapv:UnspecifiedMatching +GARD:18148 Deafness, autosomal dominant 72 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18148 Deafness, autosomal dominant 72 skos:exactMatch OMIM:617606 semapv:UnspecifiedMatching +GARD:18149 Deafness, autosomal dominant 73 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18149 Deafness, autosomal dominant 73 skos:exactMatch OMIM:617663 semapv:UnspecifiedMatching +GARD:1815 Dermochondrocorneal dystrophy skos:exactMatch Orphanet:79149 semapv:UnspecifiedMatching +GARD:1815 Dermochondrocorneal dystrophy skos:narrowMatch OMIM:221800 semapv:UnspecifiedMatching +GARD:18150 Deafness, autosomal recessive 110 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18150 Deafness, autosomal recessive 110 skos:exactMatch OMIM:618094 semapv:UnspecifiedMatching +GARD:18151 Deafness, autosomal dominant 74 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18151 Deafness, autosomal dominant 74 skos:exactMatch OMIM:618140 semapv:UnspecifiedMatching +GARD:18152 Deafness, autosomal recessive 113 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18152 Deafness, autosomal recessive 113 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:18152 Deafness, autosomal recessive 113 skos:exactMatch OMIM:618410 semapv:UnspecifiedMatching +GARD:18153 Deafness, autosomal dominant 75 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18153 Deafness, autosomal dominant 75 skos:exactMatch OMIM:618778 semapv:UnspecifiedMatching +GARD:18154 Deafness, autosomal dominant 76 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18154 Deafness, autosomal dominant 76 skos:exactMatch OMIM:618787 semapv:UnspecifiedMatching +GARD:18155 Deafness, autosomal dominant 77 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18155 Deafness, autosomal dominant 77 skos:exactMatch OMIM:618915 semapv:UnspecifiedMatching +GARD:18156 Deafness, autosomal dominant 78 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18156 Deafness, autosomal dominant 78 skos:exactMatch OMIM:619081 semapv:UnspecifiedMatching +GARD:18157 Deafness, autosomal dominant 79 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18157 Deafness, autosomal dominant 79 skos:exactMatch OMIM:619086 semapv:UnspecifiedMatching +GARD:18158 Deafness, autosomal dominant 80 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:18158 Deafness, autosomal dominant 80 skos:exactMatch OMIM:619274 semapv:UnspecifiedMatching +GARD:18159 Deafness, sensorineural, autosomal-mitochondrial type skos:broadMatch Orphanet:90641 semapv:UnspecifiedMatching +GARD:18159 Deafness, sensorineural, autosomal-mitochondrial type skos:exactMatch OMIM:221745 semapv:UnspecifiedMatching +GARD:1816 Dermoodontodysplasia skos:exactMatch Orphanet:1660 semapv:UnspecifiedMatching +GARD:1816 Dermoodontodysplasia skos:narrowMatch OMIM:125640 semapv:UnspecifiedMatching +GARD:18160 Deafness, nonsyndromic sensorineural, mitochondrial skos:broadMatch Orphanet:90641 semapv:UnspecifiedMatching +GARD:18160 Deafness, nonsyndromic sensorineural, mitochondrial skos:exactMatch OMIM:500008 semapv:UnspecifiedMatching +GARD:18161 Deafness, aminoglycoside-induced skos:broadMatch Orphanet:90641 semapv:UnspecifiedMatching +GARD:18161 Deafness, aminoglycoside-induced skos:exactMatch OMIM:580000 semapv:UnspecifiedMatching +GARD:18162 Ptosis, hereditary congenital 1 skos:broadMatch Orphanet:91411 semapv:UnspecifiedMatching +GARD:18162 Ptosis, hereditary congenital 1 skos:exactMatch OMIM:178300 semapv:UnspecifiedMatching +GARD:18163 Ptosis, hereditary congenital 2 skos:broadMatch Orphanet:91411 semapv:UnspecifiedMatching +GARD:18163 Ptosis, hereditary congenital 2 skos:exactMatch OMIM:300245 semapv:UnspecifiedMatching +GARD:18164 Fibrosis of extraocular muscles, congenital, 5 skos:broadMatch Orphanet:91411 semapv:UnspecifiedMatching +GARD:18164 Fibrosis of extraocular muscles, congenital, 5 skos:exactMatch OMIM:616219 semapv:UnspecifiedMatching +GARD:18165 Alacrima, congenital, autosomal dominant skos:broadMatch Orphanet:91416 semapv:UnspecifiedMatching +GARD:18165 Alacrima, congenital, autosomal dominant skos:exactMatch OMIM:103420 semapv:UnspecifiedMatching +GARD:18166 Alacrima, congenital, autosomal recessive skos:broadMatch Orphanet:91416 semapv:UnspecifiedMatching +GARD:18166 Alacrima, congenital, autosomal recessive skos:exactMatch OMIM:601549 semapv:UnspecifiedMatching +GARD:18167 Persistent hyperplastic primary vitreous, autosomal recessive skos:broadMatch Orphanet:91495 semapv:UnspecifiedMatching +GARD:18167 Persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch OMIM:221900 semapv:UnspecifiedMatching +GARD:18168 Persistent hyperplastic primary vitreous, autosomal dominant skos:broadMatch Orphanet:91495 semapv:UnspecifiedMatching +GARD:18168 Persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch OMIM:611308 semapv:UnspecifiedMatching +GARD:18169 Vitamin d-dependent rickets, type 2a skos:broadMatch Orphanet:93160 semapv:UnspecifiedMatching +GARD:18169 Vitamin d-dependent rickets, type 2a skos:exactMatch OMIM:277440 semapv:UnspecifiedMatching +GARD:18170 Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor skos:broadMatch Orphanet:93160 semapv:UnspecifiedMatching +GARD:18170 Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor skos:exactMatch OMIM:600785 semapv:UnspecifiedMatching +GARD:18171 Vitamin d-dependent rickets, type 3 skos:broadMatch Orphanet:93160 semapv:UnspecifiedMatching +GARD:18171 Vitamin d-dependent rickets, type 3 skos:exactMatch OMIM:619073 semapv:UnspecifiedMatching +GARD:18172 Polydactyly, postaxial, type a5 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:18172 Polydactyly, postaxial, type a5 skos:exactMatch OMIM:263450 semapv:UnspecifiedMatching +GARD:18173 Polydactyly, postaxial, type a2 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:18173 Polydactyly, postaxial, type a2 skos:exactMatch OMIM:602085 semapv:UnspecifiedMatching +GARD:18174 Polydactyly, postaxial, type a3 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:18174 Polydactyly, postaxial, type a3 skos:exactMatch OMIM:607324 semapv:UnspecifiedMatching +GARD:18175 Polydactyly, postaxial, type a4 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:18175 Polydactyly, postaxial, type a4 skos:exactMatch OMIM:608562 semapv:UnspecifiedMatching +GARD:18176 Polydactyly, postaxial, type a6 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:18176 Polydactyly, postaxial, type a6 skos:exactMatch OMIM:615226 semapv:UnspecifiedMatching +GARD:18177 Polydactyly, postaxial, type a9 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:18177 Polydactyly, postaxial, type a9 skos:exactMatch OMIM:618219 semapv:UnspecifiedMatching +GARD:18178 Polydactyly, postaxial, type a10 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:18178 Polydactyly, postaxial, type a10 skos:exactMatch OMIM:618498 semapv:UnspecifiedMatching +GARD:18179 Nephronophthisis 3 skos:broadMatch Orphanet:93589 semapv:UnspecifiedMatching +GARD:18179 Nephronophthisis 3 skos:exactMatch OMIM:604387 semapv:UnspecifiedMatching +GARD:1818 Desbuquois syndrome skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching +GARD:1818 Desbuquois syndrome skos:narrowMatch OMIM:251450 semapv:UnspecifiedMatching +GARD:1818 Desbuquois syndrome skos:narrowMatch OMIM:615777 semapv:UnspecifiedMatching +GARD:18180 Nephronophthisis-like nephropathy 1 skos:broadMatch Orphanet:93589 semapv:UnspecifiedMatching +GARD:18180 Nephronophthisis-like nephropathy 1 skos:exactMatch OMIM:613159 semapv:UnspecifiedMatching +GARD:18181 Nephronophthisis 20 skos:broadMatch Orphanet:93589 semapv:UnspecifiedMatching +GARD:18181 Nephronophthisis 20 skos:exactMatch OMIM:617271 semapv:UnspecifiedMatching +GARD:18182 Nephronophthisis 2 skos:broadMatch Orphanet:93591 semapv:UnspecifiedMatching +GARD:18182 Nephronophthisis 2 skos:exactMatch OMIM:602088 semapv:UnspecifiedMatching +GARD:18183 Nephronophthisis 16 skos:broadMatch Orphanet:93591 semapv:UnspecifiedMatching +GARD:18183 Nephronophthisis 16 skos:broadMatch Orphanet:93592 semapv:UnspecifiedMatching +GARD:18183 Nephronophthisis 16 skos:exactMatch OMIM:615382 semapv:UnspecifiedMatching +GARD:18184 Hypospadias 3, autosomal skos:broadMatch Orphanet:95706 semapv:UnspecifiedMatching +GARD:18184 Hypospadias 3, autosomal skos:exactMatch OMIM:146450 semapv:UnspecifiedMatching +GARD:18185 Hypospadias 1, x-linked skos:broadMatch Orphanet:95706 semapv:UnspecifiedMatching +GARD:18185 Hypospadias 1, x-linked skos:exactMatch OMIM:300633 semapv:UnspecifiedMatching +GARD:18186 Hypospadias 2, x-linked skos:broadMatch Orphanet:95706 semapv:UnspecifiedMatching +GARD:18186 Hypospadias 2, x-linked skos:exactMatch OMIM:300758 semapv:UnspecifiedMatching +GARD:18187 Hypospadias 4, x-linked, susceptibility to skos:broadMatch Orphanet:95706 semapv:UnspecifiedMatching +GARD:18187 Hypospadias 4, x-linked, susceptibility to skos:exactMatch OMIM:300856 semapv:UnspecifiedMatching +GARD:18188 Thyroid dyshormonogenesis 1 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +GARD:18188 Thyroid dyshormonogenesis 1 skos:exactMatch OMIM:274400 semapv:UnspecifiedMatching +GARD:18189 Thyroid dyshormonogenesis 2a skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +GARD:18189 Thyroid dyshormonogenesis 2a skos:exactMatch OMIM:274500 semapv:UnspecifiedMatching +GARD:18190 Thyroid dyshormonogenesis 3 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +GARD:18190 Thyroid dyshormonogenesis 3 skos:exactMatch OMIM:274700 semapv:UnspecifiedMatching +GARD:18191 Thyroid dyshormonogenesis 4 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +GARD:18191 Thyroid dyshormonogenesis 4 skos:exactMatch OMIM:274800 semapv:UnspecifiedMatching +GARD:18192 Thyroid dyshormonogenesis 5 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +GARD:18192 Thyroid dyshormonogenesis 5 skos:exactMatch OMIM:274900 semapv:UnspecifiedMatching +GARD:18193 Thyroid dyshormonogenesis 6 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +GARD:18193 Thyroid dyshormonogenesis 6 skos:exactMatch OMIM:607200 semapv:UnspecifiedMatching +GARD:18194 Immunodeficiency 75 skos:broadMatch Orphanet:98291 semapv:UnspecifiedMatching +GARD:18194 Immunodeficiency 75 skos:exactMatch OMIM:619126 semapv:UnspecifiedMatching +GARD:18195 Vitamin k-dependent clotting factors, combined deficiency of, 1 skos:broadMatch Orphanet:98434 semapv:UnspecifiedMatching +GARD:18195 Vitamin k-dependent clotting factors, combined deficiency of, 1 skos:exactMatch OMIM:277450 semapv:UnspecifiedMatching +GARD:18196 Vitamin k-dependent clotting factors, combined deficiency of, 2 skos:broadMatch Orphanet:98434 semapv:UnspecifiedMatching +GARD:18196 Vitamin k-dependent clotting factors, combined deficiency of, 2 skos:exactMatch OMIM:607473 semapv:UnspecifiedMatching +GARD:18197 Myopia, high, with cataract and vitreoretinal degeneration skos:broadMatch Orphanet:98619 semapv:UnspecifiedMatching +GARD:18197 Myopia, high, with cataract and vitreoretinal degeneration skos:exactMatch OMIM:614292 semapv:UnspecifiedMatching +GARD:18198 Myopia 23, autosomal recessive skos:broadMatch Orphanet:98619 semapv:UnspecifiedMatching +GARD:18198 Myopia 23, autosomal recessive skos:exactMatch OMIM:615431 semapv:UnspecifiedMatching +GARD:18199 Optic atrophy 9 skos:broadMatch Orphanet:98676 semapv:UnspecifiedMatching +GARD:18199 Optic atrophy 9 skos:exactMatch OMIM:616289 semapv:UnspecifiedMatching +GARD:182 Best vitelliform macular dystrophy skos:exactMatch Orphanet:1243 semapv:UnspecifiedMatching +GARD:182 Best vitelliform macular dystrophy skos:narrowMatch OMIM:153700 semapv:UnspecifiedMatching +GARD:1820 Desmoid tumor skos:exactMatch Orphanet:873 semapv:UnspecifiedMatching +GARD:1820 Desmoid tumor skos:narrowMatch OMIM:135290 semapv:UnspecifiedMatching +GARD:18200 Optic atrophy 10 with or without ataxia, mental retardation, and seizures skos:broadMatch Orphanet:98676 semapv:UnspecifiedMatching +GARD:18200 Optic atrophy 10 with or without ataxia, mental retardation, and seizures skos:exactMatch OMIM:616732 semapv:UnspecifiedMatching +GARD:18201 Optic atrophy 11 skos:broadMatch Orphanet:98676 semapv:UnspecifiedMatching +GARD:18201 Optic atrophy 11 skos:exactMatch OMIM:617302 semapv:UnspecifiedMatching +GARD:18202 Epilepsy, familial focal, with variable foci 1 skos:broadMatch Orphanet:98820 semapv:UnspecifiedMatching +GARD:18202 Epilepsy, familial focal, with variable foci 1 skos:exactMatch OMIM:604364 semapv:UnspecifiedMatching +GARD:18203 Epilepsy, familial focal, with variable foci 2 skos:broadMatch Orphanet:98820 semapv:UnspecifiedMatching +GARD:18203 Epilepsy, familial focal, with variable foci 2 skos:exactMatch OMIM:617116 semapv:UnspecifiedMatching +GARD:18204 Epilepsy, familial focal, with variable foci 3 skos:broadMatch Orphanet:98820 semapv:UnspecifiedMatching +GARD:18204 Epilepsy, familial focal, with variable foci 3 skos:exactMatch OMIM:617118 semapv:UnspecifiedMatching +GARD:18205 Interstitial pneumonitis, desquamative, familial skos:broadMatch Orphanet:98852 semapv:UnspecifiedMatching +GARD:18205 Interstitial pneumonitis, desquamative, familial skos:exactMatch OMIM:263000 semapv:UnspecifiedMatching +GARD:18206 Emery-dreifuss muscular dystrophy 4, autosomal dominant skos:broadMatch Orphanet:98853 semapv:UnspecifiedMatching +GARD:18206 Emery-dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch OMIM:612998 semapv:UnspecifiedMatching +GARD:18207 Emery-dreifuss muscular dystrophy 5, autosomal dominant skos:broadMatch Orphanet:98853 semapv:UnspecifiedMatching +GARD:18207 Emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch OMIM:612999 semapv:UnspecifiedMatching +GARD:18208 Emery-dreifuss muscular dystrophy 7, autosomal dominant skos:broadMatch Orphanet:98853 semapv:UnspecifiedMatching +GARD:18208 Emery-dreifuss muscular dystrophy 7, autosomal dominant skos:exactMatch OMIM:614302 semapv:UnspecifiedMatching +GARD:18209 Emery-dreifuss muscular dystrophy 3, autosomal recessive skos:broadMatch Orphanet:98855 semapv:UnspecifiedMatching +GARD:18209 Emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch OMIM:616516 semapv:UnspecifiedMatching +GARD:18210 Myasthenic syndrome, congenital, 5 skos:broadMatch Orphanet:98915 semapv:UnspecifiedMatching +GARD:18210 Myasthenic syndrome, congenital, 5 skos:exactMatch OMIM:603034 semapv:UnspecifiedMatching +GARD:18211 Guillain-barre syndrome, familial skos:broadMatch Orphanet:98916 semapv:UnspecifiedMatching +GARD:18211 Guillain-barre syndrome, familial skos:exactMatch OMIM:139393 semapv:UnspecifiedMatching +GARD:18212 Corneal dystrophy, posterior polymorphous, 1 skos:broadMatch Orphanet:98973 semapv:UnspecifiedMatching +GARD:18212 Corneal dystrophy, posterior polymorphous, 1 skos:exactMatch OMIM:122000 semapv:UnspecifiedMatching +GARD:18213 Corneal dystrophy, posterior polymorphous, 2 skos:broadMatch Orphanet:98973 semapv:UnspecifiedMatching +GARD:18213 Corneal dystrophy, posterior polymorphous, 2 skos:exactMatch OMIM:609140 semapv:UnspecifiedMatching +GARD:18214 Corneal dystrophy, posterior polymorphous, 3 skos:broadMatch Orphanet:98973 semapv:UnspecifiedMatching +GARD:18214 Corneal dystrophy, posterior polymorphous, 3 skos:exactMatch OMIM:609141 semapv:UnspecifiedMatching +GARD:18215 Corneal dystrophy, posterior polymorphous, 4 skos:broadMatch Orphanet:98973 semapv:UnspecifiedMatching +GARD:18215 Corneal dystrophy, posterior polymorphous, 4 skos:exactMatch OMIM:618031 semapv:UnspecifiedMatching +GARD:18216 Corneal dystrophy, fuchs endothelial, 1 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:18216 Corneal dystrophy, fuchs endothelial, 1 skos:exactMatch OMIM:136800 semapv:UnspecifiedMatching +GARD:18217 Corneal dystrophy, fuchs endothelial, 2 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:18217 Corneal dystrophy, fuchs endothelial, 2 skos:exactMatch OMIM:610158 semapv:UnspecifiedMatching +GARD:18218 Corneal dystrophy, fuchs endothelial, 3 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:18218 Corneal dystrophy, fuchs endothelial, 3 skos:exactMatch OMIM:613267 semapv:UnspecifiedMatching +GARD:18219 Corneal dystrophy, fuchs endothelial, 4 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:18219 Corneal dystrophy, fuchs endothelial, 4 skos:exactMatch OMIM:613268 semapv:UnspecifiedMatching +GARD:18220 Corneal dystrophy, fuchs endothelial, 5 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:18220 Corneal dystrophy, fuchs endothelial, 5 skos:exactMatch OMIM:613269 semapv:UnspecifiedMatching +GARD:18221 Corneal dystrophy, fuchs endothelial, 6 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:18221 Corneal dystrophy, fuchs endothelial, 6 skos:exactMatch OMIM:613270 semapv:UnspecifiedMatching +GARD:18222 Corneal dystrophy, fuchs endothelial, 7 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:18222 Corneal dystrophy, fuchs endothelial, 7 skos:exactMatch OMIM:613271 semapv:UnspecifiedMatching +GARD:18223 Corneal dystrophy, fuchs endothelial, 8 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +GARD:18223 Corneal dystrophy, fuchs endothelial, 8 skos:exactMatch OMIM:615523 semapv:UnspecifiedMatching +GARD:18224 Glaucoma 3, primary congenital, a skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +GARD:18224 Glaucoma 3, primary congenital, a skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +GARD:18224 Glaucoma 3, primary congenital, a skos:exactMatch OMIM:231300 semapv:UnspecifiedMatching +GARD:18225 Glaucoma 3, primary congenital, c skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +GARD:18225 Glaucoma 3, primary congenital, c skos:exactMatch OMIM:613085 semapv:UnspecifiedMatching +GARD:18226 Glaucoma 3, primary congenital, d skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +GARD:18226 Glaucoma 3, primary congenital, d skos:exactMatch OMIM:613086 semapv:UnspecifiedMatching +GARD:18227 Glaucoma 3, primary congenital, e skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +GARD:18227 Glaucoma 3, primary congenital, e skos:exactMatch OMIM:617272 semapv:UnspecifiedMatching +GARD:18228 Glaucoma 1, open angle, j skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +GARD:18228 Glaucoma 1, open angle, j skos:exactMatch OMIM:608695 semapv:UnspecifiedMatching +GARD:18229 Glaucoma 1, open angle, k skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +GARD:18229 Glaucoma 1, open angle, k skos:exactMatch OMIM:608696 semapv:UnspecifiedMatching +GARD:1823 Familial developmental dysphasia skos:exactMatch Orphanet:1799 semapv:UnspecifiedMatching +GARD:1823 Familial developmental dysphasia skos:narrowMatch OMIM:600117 semapv:UnspecifiedMatching +GARD:18230 Glaucoma 1, open angle, m skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +GARD:18230 Glaucoma 1, open angle, m skos:exactMatch OMIM:610535 semapv:UnspecifiedMatching +GARD:18231 Glaucoma 1, open angle, n skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +GARD:18231 Glaucoma 1, open angle, n skos:exactMatch OMIM:611274 semapv:UnspecifiedMatching +GARD:18232 Cataract 25 skos:broadMatch Orphanet:98985 semapv:UnspecifiedMatching +GARD:18232 Cataract 25 skos:exactMatch OMIM:605728 semapv:UnspecifiedMatching +GARD:18233 Cataract 29 skos:broadMatch Orphanet:98990 semapv:UnspecifiedMatching +GARD:18233 Cataract 29 skos:exactMatch OMIM:115800 semapv:UnspecifiedMatching +GARD:18234 Cataract 41 skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +GARD:18234 Cataract 41 skos:exactMatch OMIM:116400 semapv:UnspecifiedMatching +GARD:18235 Cataract 27 skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +GARD:18235 Cataract 27 skos:exactMatch OMIM:607304 semapv:UnspecifiedMatching +GARD:18236 Cataract 33, multiple types skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +GARD:18236 Cataract 33, multiple types skos:exactMatch OMIM:611391 semapv:UnspecifiedMatching +GARD:18237 Macular dystrophy, patterned, 1 skos:broadMatch Orphanet:99001 semapv:UnspecifiedMatching +GARD:18237 Macular dystrophy, patterned, 1 skos:exactMatch OMIM:169150 semapv:UnspecifiedMatching +GARD:18238 Macular dystrophy, patterned, 2 skos:broadMatch Orphanet:99001 semapv:UnspecifiedMatching +GARD:18238 Macular dystrophy, patterned, 2 skos:exactMatch OMIM:608970 semapv:UnspecifiedMatching +GARD:18239 Reticular dystrophy of retinal pigment epithelium skos:broadMatch Orphanet:99002 semapv:UnspecifiedMatching +GARD:18239 Reticular dystrophy of retinal pigment epithelium skos:exactMatch OMIM:179840 semapv:UnspecifiedMatching +GARD:18240 Retinal dystrophy, reticular pigmentary, of posterior pole skos:broadMatch Orphanet:99002 semapv:UnspecifiedMatching +GARD:18240 Retinal dystrophy, reticular pigmentary, of posterior pole skos:exactMatch OMIM:267800 semapv:UnspecifiedMatching +GARD:18241 Retinal dystrophy with or without extraocular anomalies skos:broadMatch Orphanet:99002 semapv:UnspecifiedMatching +GARD:18241 Retinal dystrophy with or without extraocular anomalies skos:exactMatch OMIM:617175 semapv:UnspecifiedMatching +GARD:18242 Subaortic stenosis, membranous skos:broadMatch Orphanet:99051 semapv:UnspecifiedMatching +GARD:18242 Subaortic stenosis, membranous skos:exactMatch OMIM:271950 semapv:UnspecifiedMatching +GARD:18243 Cleft soft palate skos:broadMatch Orphanet:99772 semapv:UnspecifiedMatching +GARD:18243 Cleft soft palate skos:exactMatch OMIM:119570 semapv:UnspecifiedMatching +GARD:18244 Tooth agenesis, selective, 1 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +GARD:18244 Tooth agenesis, selective, 1 skos:exactMatch OMIM:106600 semapv:UnspecifiedMatching +GARD:18245 Tooth agenesis, selective, 4 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +GARD:18245 Tooth agenesis, selective, 4 skos:exactMatch OMIM:150400 semapv:UnspecifiedMatching +GARD:18246 Tooth agenesis, selective, x-linked, 1 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +GARD:18246 Tooth agenesis, selective, x-linked, 1 skos:exactMatch OMIM:313500 semapv:UnspecifiedMatching +GARD:18247 Tooth agenesis, selective, 3 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +GARD:18247 Tooth agenesis, selective, 3 skos:exactMatch OMIM:604625 semapv:UnspecifiedMatching +GARD:18248 Tooth agenesis, selective, 5 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +GARD:18248 Tooth agenesis, selective, 5 skos:exactMatch OMIM:610926 semapv:UnspecifiedMatching +GARD:18249 Tooth agenesis, selective, 7 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +GARD:18249 Tooth agenesis, selective, 7 skos:exactMatch OMIM:616724 semapv:UnspecifiedMatching +GARD:18250 Tooth agenesis, selective, 8 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +GARD:18250 Tooth agenesis, selective, 8 skos:exactMatch OMIM:617073 semapv:UnspecifiedMatching +GARD:18251 Myoglobinuria, acute recurrent, autosomal recessive skos:broadMatch Orphanet:99845 semapv:UnspecifiedMatching +GARD:18251 Myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch OMIM:268200 semapv:UnspecifiedMatching +GARD:18252 Leukoencephalopathy, progressive, with ovarian failure skos:broadMatch Orphanet:99853 semapv:UnspecifiedMatching +GARD:18252 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch OMIM:615889 semapv:UnspecifiedMatching +GARD:18253 Hyperparathyroidism 1 skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +GARD:18253 Hyperparathyroidism 1 skos:exactMatch OMIM:145000 semapv:UnspecifiedMatching +GARD:18254 Hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +GARD:18254 Hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch OMIM:600166 semapv:UnspecifiedMatching +GARD:18255 Hyperparathyroidism 3 skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +GARD:18255 Hyperparathyroidism 3 skos:exactMatch OMIM:610071 semapv:UnspecifiedMatching +GARD:18256 Hyperparathyroidism 4 skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +GARD:18256 Hyperparathyroidism 4 skos:exactMatch OMIM:617343 semapv:UnspecifiedMatching +GARD:18257 Hypoparathyroidism, familial isolated, 2 skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +GARD:18257 Hypoparathyroidism, familial isolated, 2 skos:exactMatch OMIM:618883 semapv:UnspecifiedMatching +GARD:18258 Amelogenesis imperfecta, type iiib skos:broadMatch Orphanet:100032 semapv:UnspecifiedMatching +GARD:18258 Amelogenesis imperfecta, type iiib skos:exactMatch OMIM:617607 semapv:UnspecifiedMatching +GARD:18259 Angioedema induced by ace inhibitors, susceptibility to skos:broadMatch Orphanet:100057 semapv:UnspecifiedMatching +GARD:18259 Angioedema induced by ace inhibitors, susceptibility to skos:exactMatch OMIM:300909 semapv:UnspecifiedMatching +GARD:18260 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies skos:broadMatch Orphanet:103908 semapv:UnspecifiedMatching +GARD:18260 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies skos:exactMatch OMIM:270420 semapv:UnspecifiedMatching +GARD:18261 Diarrhea 8, secretory sodium, congenital skos:broadMatch Orphanet:103908 semapv:UnspecifiedMatching +GARD:18261 Diarrhea 8, secretory sodium, congenital skos:exactMatch OMIM:616868 semapv:UnspecifiedMatching +GARD:18262 Neuronopathy, distal hereditary motor, type iia skos:broadMatch Orphanet:139525 semapv:UnspecifiedMatching +GARD:18262 Neuronopathy, distal hereditary motor, type iia skos:exactMatch OMIM:158590 semapv:UnspecifiedMatching +GARD:18263 Neuronopathy, distal hereditary motor, type iib skos:broadMatch Orphanet:139525 semapv:UnspecifiedMatching +GARD:18263 Neuronopathy, distal hereditary motor, type iib skos:exactMatch OMIM:608634 semapv:UnspecifiedMatching +GARD:18264 Neuronopathy, distal hereditary motor, type iic skos:broadMatch Orphanet:139525 semapv:UnspecifiedMatching +GARD:18264 Neuronopathy, distal hereditary motor, type iic skos:exactMatch OMIM:613376 semapv:UnspecifiedMatching +GARD:18265 Neuronopathy, distal hereditary motor, type iid skos:broadMatch Orphanet:139525 semapv:UnspecifiedMatching +GARD:18265 Neuronopathy, distal hereditary motor, type iid skos:exactMatch OMIM:615575 semapv:UnspecifiedMatching +GARD:18266 Neuronopathy, distal hereditary motor, type va skos:broadMatch Orphanet:139536 semapv:UnspecifiedMatching +GARD:18266 Neuronopathy, distal hereditary motor, type va skos:exactMatch OMIM:600794 semapv:UnspecifiedMatching +GARD:18267 Neuronopathy, distal hereditary motor, type vb skos:broadMatch Orphanet:139536 semapv:UnspecifiedMatching +GARD:18267 Neuronopathy, distal hereditary motor, type vb skos:exactMatch OMIM:614751 semapv:UnspecifiedMatching +GARD:18268 Neuronopathy, distal hereditary motor, type vc skos:broadMatch Orphanet:139536 semapv:UnspecifiedMatching +GARD:18268 Neuronopathy, distal hereditary motor, type vc skos:exactMatch OMIM:619112 semapv:UnspecifiedMatching +GARD:18269 Neuronopathy, distal hereditary motor, type viia skos:broadMatch Orphanet:139589 semapv:UnspecifiedMatching +GARD:18269 Neuronopathy, distal hereditary motor, type viia skos:exactMatch OMIM:158580 semapv:UnspecifiedMatching +GARD:1827 Dextrocardia skos:exactMatch Orphanet:1666 semapv:UnspecifiedMatching +GARD:18270 Neuronopathy, distal hereditary motor, type viib skos:broadMatch Orphanet:139589 semapv:UnspecifiedMatching +GARD:18270 Neuronopathy, distal hereditary motor, type viib skos:exactMatch OMIM:607641 semapv:UnspecifiedMatching +GARD:18271 Macrothrombocytopenia, isolated, 1, autosomal dominant skos:broadMatch Orphanet:140957 semapv:UnspecifiedMatching +GARD:18271 Macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch OMIM:613112 semapv:UnspecifiedMatching +GARD:18272 Bleeding disorder, platelet-type, 15 skos:broadMatch Orphanet:140957 semapv:UnspecifiedMatching +GARD:18272 Bleeding disorder, platelet-type, 15 skos:exactMatch OMIM:615193 semapv:UnspecifiedMatching +GARD:18273 Bleeding disorder, platelet-type, 24 skos:broadMatch Orphanet:140957 semapv:UnspecifiedMatching +GARD:18273 Bleeding disorder, platelet-type, 24 skos:exactMatch OMIM:619271 semapv:UnspecifiedMatching +GARD:18274 Atresia of external auditory canal and conductive deafness skos:broadMatch Orphanet:141074 semapv:UnspecifiedMatching +GARD:18274 Atresia of external auditory canal and conductive deafness skos:exactMatch OMIM:108760 semapv:UnspecifiedMatching +GARD:18275 Aural atresia, congenital skos:broadMatch Orphanet:141074 semapv:UnspecifiedMatching +GARD:18275 Aural atresia, congenital skos:exactMatch OMIM:607842 semapv:UnspecifiedMatching +GARD:18276 Polyposis syndrome, hereditary mixed, 2 skos:broadMatch Orphanet:157794 semapv:UnspecifiedMatching +GARD:18276 Polyposis syndrome, hereditary mixed, 2 skos:exactMatch OMIM:610069 semapv:UnspecifiedMatching +GARD:18277 Crisponi/cold-induced sweating syndrome 2 skos:broadMatch Orphanet:157820 semapv:UnspecifiedMatching +GARD:18277 Crisponi/cold-induced sweating syndrome 2 skos:exactMatch OMIM:610313 semapv:UnspecifiedMatching +GARD:18278 Perching syndrome skos:broadMatch Orphanet:157820 semapv:UnspecifiedMatching +GARD:18278 Perching syndrome skos:exactMatch OMIM:617055 semapv:UnspecifiedMatching +GARD:18279 Epilepsy, familial temporal lobe, 3 skos:broadMatch Orphanet:163717 semapv:UnspecifiedMatching +GARD:18279 Epilepsy, familial temporal lobe, 3 skos:exactMatch OMIM:611630 semapv:UnspecifiedMatching +GARD:18280 Epilepsy, familial temporal lobe, 5 skos:broadMatch Orphanet:163717 semapv:UnspecifiedMatching +GARD:18280 Epilepsy, familial temporal lobe, 5 skos:exactMatch OMIM:614417 semapv:UnspecifiedMatching +GARD:18281 Epilepsy, familial temporal lobe, 6 skos:broadMatch Orphanet:163717 semapv:UnspecifiedMatching +GARD:18281 Epilepsy, familial temporal lobe, 6 skos:exactMatch OMIM:615697 semapv:UnspecifiedMatching +GARD:18282 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked skos:broadMatch Orphanet:163721 semapv:UnspecifiedMatching +GARD:18282 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked skos:exactMatch OMIM:300643 semapv:UnspecifiedMatching +GARD:18283 Febrile seizures, familial, 11 skos:broadMatch Orphanet:165805 semapv:UnspecifiedMatching +GARD:18283 Febrile seizures, familial, 11 skos:exactMatch OMIM:614418 semapv:UnspecifiedMatching +GARD:18284 Sick sinus syndrome 2 skos:broadMatch Orphanet:166282 semapv:UnspecifiedMatching +GARD:18284 Sick sinus syndrome 2 skos:exactMatch OMIM:163800 semapv:UnspecifiedMatching +GARD:18285 Sick sinus syndrome 3, susceptibility to skos:broadMatch Orphanet:166282 semapv:UnspecifiedMatching +GARD:18285 Sick sinus syndrome 3, susceptibility to skos:exactMatch OMIM:614090 semapv:UnspecifiedMatching +GARD:18286 Epilepsy, hot water, 1 skos:broadMatch Orphanet:166412 semapv:UnspecifiedMatching +GARD:18286 Epilepsy, hot water, 1 skos:exactMatch OMIM:613339 semapv:UnspecifiedMatching +GARD:18287 Epilepsy, hot water, 2 skos:broadMatch Orphanet:166412 semapv:UnspecifiedMatching +GARD:18287 Epilepsy, hot water, 2 skos:exactMatch OMIM:613340 semapv:UnspecifiedMatching +GARD:18288 Thrombocytopenia 3 skos:broadMatch Orphanet:168629 semapv:UnspecifiedMatching +GARD:18288 Thrombocytopenia 3 skos:exactMatch OMIM:273900 semapv:UnspecifiedMatching +GARD:18289 Thrombocytopenia 4 skos:broadMatch Orphanet:168629 semapv:UnspecifiedMatching +GARD:18289 Thrombocytopenia 4 skos:exactMatch OMIM:612004 semapv:UnspecifiedMatching +GARD:18290 Complement component 7 deficiency skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +GARD:18290 Complement component 7 deficiency skos:exactMatch OMIM:610102 semapv:UnspecifiedMatching +GARD:18291 Complement component 6 deficiency skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +GARD:18291 Complement component 6 deficiency skos:exactMatch OMIM:612446 semapv:UnspecifiedMatching +GARD:18292 Complement component 9 deficiency skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +GARD:18292 Complement component 9 deficiency skos:exactMatch OMIM:613825 semapv:UnspecifiedMatching +GARD:18293 Immunodeficiency 104 skos:broadMatch Orphanet:169160 semapv:UnspecifiedMatching +GARD:18293 Immunodeficiency 104 skos:exactMatch OMIM:608971 semapv:UnspecifiedMatching +GARD:18294 Immunodeficiency 25 skos:broadMatch Orphanet:169160 semapv:UnspecifiedMatching +GARD:18294 Immunodeficiency 25 skos:exactMatch OMIM:610163 semapv:UnspecifiedMatching +GARD:18295 Immunodeficiency 18 skos:broadMatch Orphanet:169160 semapv:UnspecifiedMatching +GARD:18295 Immunodeficiency 18 skos:exactMatch OMIM:615615 semapv:UnspecifiedMatching +GARD:18296 Immunodeficiency 19 skos:broadMatch Orphanet:169160 semapv:UnspecifiedMatching +GARD:18296 Immunodeficiency 19 skos:exactMatch OMIM:615617 semapv:UnspecifiedMatching +GARD:18297 Rajab interstitial lung disease with brain calcifications 1 skos:broadMatch Orphanet:178506 semapv:UnspecifiedMatching +GARD:18297 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch OMIM:613658 semapv:UnspecifiedMatching +GARD:18298 Rajab interstitial lung disease with brain calcifications 2 skos:broadMatch Orphanet:178506 semapv:UnspecifiedMatching +GARD:18298 Rajab interstitial lung disease with brain calcifications 2 skos:exactMatch OMIM:619013 semapv:UnspecifiedMatching +GARD:18299 Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:broadMatch Orphanet:183707 semapv:UnspecifiedMatching +GARD:18299 Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch OMIM:608203 semapv:UnspecifiedMatching +GARD:18300 Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:broadMatch Orphanet:183707 semapv:UnspecifiedMatching +GARD:18300 Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch OMIM:618987 semapv:UnspecifiedMatching +GARD:18301 Hypercarotenemia and vitamin a deficiency, autosomal dominant skos:broadMatch Orphanet:199285 semapv:UnspecifiedMatching +GARD:18301 Hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch OMIM:115300 semapv:UnspecifiedMatching +GARD:18302 Hypercarotenemia and vitamin a deficiency, autosomal recessive skos:broadMatch Orphanet:199285 semapv:UnspecifiedMatching +GARD:18302 Hypercarotenemia and vitamin a deficiency, autosomal recessive skos:exactMatch OMIM:277350 semapv:UnspecifiedMatching +GARD:18303 Orofacial cleft 11 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +GARD:18303 Orofacial cleft 11 skos:exactMatch OMIM:600625 semapv:UnspecifiedMatching +GARD:18304 Orofacial cleft 6, susceptibility to skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +GARD:18304 Orofacial cleft 6, susceptibility to skos:exactMatch OMIM:608864 semapv:UnspecifiedMatching +GARD:18305 Orofacial cleft 5 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +GARD:18305 Orofacial cleft 5 skos:exactMatch OMIM:608874 semapv:UnspecifiedMatching +GARD:18306 Orofacial cleft 10 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +GARD:18306 Orofacial cleft 10 skos:exactMatch OMIM:613705 semapv:UnspecifiedMatching +GARD:18307 Orofacial cleft 15 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +GARD:18307 Orofacial cleft 15 skos:exactMatch OMIM:616788 semapv:UnspecifiedMatching +GARD:18308 Orofacial cleft 8 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +GARD:18308 Orofacial cleft 8 skos:exactMatch OMIM:618149 semapv:UnspecifiedMatching +GARD:18309 Cerebral palsy, spastic quadriplegic, 2 skos:broadMatch Orphanet:210141 semapv:UnspecifiedMatching +GARD:18309 Cerebral palsy, spastic quadriplegic, 2 skos:exactMatch OMIM:612900 semapv:UnspecifiedMatching +GARD:18310 Cerebral palsy, spastic quadriplegic, 3 skos:broadMatch Orphanet:210141 semapv:UnspecifiedMatching +GARD:18310 Cerebral palsy, spastic quadriplegic, 3 skos:exactMatch OMIM:617008 semapv:UnspecifiedMatching +GARD:18311 Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:broadMatch Orphanet:220465 semapv:UnspecifiedMatching +GARD:18311 Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch OMIM:245590 semapv:UnspecifiedMatching +GARD:18312 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:broadMatch Orphanet:220465 semapv:UnspecifiedMatching +GARD:18312 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch OMIM:618985 semapv:UnspecifiedMatching +GARD:18313 Cerebral cavernous malformations 2 skos:broadMatch Orphanet:221061 semapv:UnspecifiedMatching +GARD:18313 Cerebral cavernous malformations 2 skos:exactMatch OMIM:603284 semapv:UnspecifiedMatching +GARD:18314 Cerebral cavernous malformations 3 skos:broadMatch Orphanet:221061 semapv:UnspecifiedMatching +GARD:18314 Cerebral cavernous malformations 3 skos:exactMatch OMIM:603285 semapv:UnspecifiedMatching +GARD:18315 Striatonigral degeneration, infantile, mitochondrial skos:broadMatch Orphanet:225154 semapv:UnspecifiedMatching +GARD:18315 Striatonigral degeneration, infantile, mitochondrial skos:exactMatch OMIM:500003 semapv:UnspecifiedMatching +GARD:18316 Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:broadMatch Orphanet:230857 semapv:UnspecifiedMatching +GARD:18316 Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:exactMatch OMIM:619115 semapv:UnspecifiedMatching +GARD:18317 Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:broadMatch Orphanet:230857 semapv:UnspecifiedMatching +GARD:18317 Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:exactMatch OMIM:619120 semapv:UnspecifiedMatching +GARD:18318 Rhabdoid tumor predisposition syndrome 1 skos:broadMatch Orphanet:231108 semapv:UnspecifiedMatching +GARD:18318 Rhabdoid tumor predisposition syndrome 1 skos:exactMatch OMIM:609322 semapv:UnspecifiedMatching +GARD:18319 Rhabdoid tumor predisposition syndrome 2 skos:broadMatch Orphanet:231108 semapv:UnspecifiedMatching +GARD:18319 Rhabdoid tumor predisposition syndrome 2 skos:exactMatch OMIM:613325 semapv:UnspecifiedMatching +GARD:18320 Aneurysm, intracranial berry, 1 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18320 Aneurysm, intracranial berry, 1 skos:exactMatch OMIM:105800 semapv:UnspecifiedMatching +GARD:18321 Aneurysm, intracranial berry, 5 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18321 Aneurysm, intracranial berry, 5 skos:exactMatch OMIM:300870 semapv:UnspecifiedMatching +GARD:18322 Aneurysm, intracranial berry, 3 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18322 Aneurysm, intracranial berry, 3 skos:exactMatch OMIM:609122 semapv:UnspecifiedMatching +GARD:18323 Aneurysm, intracranial berry, 4 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18323 Aneurysm, intracranial berry, 4 skos:exactMatch OMIM:610213 semapv:UnspecifiedMatching +GARD:18324 Aneurysm, intracranial berry, 6 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18324 Aneurysm, intracranial berry, 6 skos:exactMatch OMIM:611892 semapv:UnspecifiedMatching +GARD:18325 Aneurysm, intracranial berry, 7 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18325 Aneurysm, intracranial berry, 7 skos:exactMatch OMIM:612161 semapv:UnspecifiedMatching +GARD:18326 Aneurysm, intracranial berry, 8 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18326 Aneurysm, intracranial berry, 8 skos:exactMatch OMIM:612162 semapv:UnspecifiedMatching +GARD:18327 Aneurysm, intracranial berry, 9 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18327 Aneurysm, intracranial berry, 9 skos:exactMatch OMIM:612586 semapv:UnspecifiedMatching +GARD:18328 Aneurysm, intracranial berry, 10 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18328 Aneurysm, intracranial berry, 10 skos:exactMatch OMIM:612587 semapv:UnspecifiedMatching +GARD:18329 Aneurysm, intracranial berry, 11 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18329 Aneurysm, intracranial berry, 11 skos:exactMatch OMIM:614252 semapv:UnspecifiedMatching +GARD:18330 Aneurysm, intracranial berry, 12 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +GARD:18330 Aneurysm, intracranial berry, 12 skos:exactMatch OMIM:618734 semapv:UnspecifiedMatching +GARD:18331 Hermansky-pudlak syndrome 1 skos:broadMatch Orphanet:231500 semapv:UnspecifiedMatching +GARD:18331 Hermansky-pudlak syndrome 1 skos:exactMatch OMIM:203300 semapv:UnspecifiedMatching +GARD:18332 Hermansky-pudlak syndrome 4 skos:broadMatch Orphanet:231500 semapv:UnspecifiedMatching +GARD:18332 Hermansky-pudlak syndrome 4 skos:exactMatch OMIM:614073 semapv:UnspecifiedMatching +GARD:18333 Hermansky-pudlak syndrome 3 skos:broadMatch Orphanet:231512 semapv:UnspecifiedMatching +GARD:18333 Hermansky-pudlak syndrome 3 skos:exactMatch OMIM:614072 semapv:UnspecifiedMatching +GARD:18334 Hermansky-pudlak syndrome 5 skos:broadMatch Orphanet:231512 semapv:UnspecifiedMatching +GARD:18334 Hermansky-pudlak syndrome 5 skos:exactMatch OMIM:614074 semapv:UnspecifiedMatching +GARD:18335 Hermansky-pudlak syndrome 6 skos:broadMatch Orphanet:231512 semapv:UnspecifiedMatching +GARD:18335 Hermansky-pudlak syndrome 6 skos:exactMatch OMIM:614075 semapv:UnspecifiedMatching +GARD:18336 Hermansky-pudlak syndrome 7 skos:broadMatch Orphanet:231531 semapv:UnspecifiedMatching +GARD:18336 Hermansky-pudlak syndrome 7 skos:exactMatch OMIM:614076 semapv:UnspecifiedMatching +GARD:18337 Hermansky-pudlak syndrome 8 skos:broadMatch Orphanet:231531 semapv:UnspecifiedMatching +GARD:18337 Hermansky-pudlak syndrome 8 skos:exactMatch OMIM:614077 semapv:UnspecifiedMatching +GARD:18338 Hermansky-pudlak syndrome 9 skos:broadMatch Orphanet:231531 semapv:UnspecifiedMatching +GARD:18338 Hermansky-pudlak syndrome 9 skos:exactMatch OMIM:614171 semapv:UnspecifiedMatching +GARD:18339 Hermansky-pudlak syndrome 11 skos:broadMatch Orphanet:231531 semapv:UnspecifiedMatching +GARD:18339 Hermansky-pudlak syndrome 11 skos:exactMatch OMIM:619172 semapv:UnspecifiedMatching +GARD:18340 Hypercholanemia, familial 1 skos:broadMatch Orphanet:238475 semapv:UnspecifiedMatching +GARD:18340 Hypercholanemia, familial 1 skos:exactMatch OMIM:607748 semapv:UnspecifiedMatching +GARD:18341 Hypercholanemia, familial, 2 skos:broadMatch Orphanet:238475 semapv:UnspecifiedMatching +GARD:18341 Hypercholanemia, familial, 2 skos:exactMatch OMIM:619256 semapv:UnspecifiedMatching +GARD:18342 Inflammatory bowel disease 25, autosomal recessive skos:broadMatch Orphanet:238569 semapv:UnspecifiedMatching +GARD:18342 Inflammatory bowel disease 25, autosomal recessive skos:exactMatch OMIM:612567 semapv:UnspecifiedMatching +GARD:18343 Inflammatory bowel disease 28, autosomal recessive skos:broadMatch Orphanet:238569 semapv:UnspecifiedMatching +GARD:18343 Inflammatory bowel disease 28, autosomal recessive skos:exactMatch OMIM:613148 semapv:UnspecifiedMatching +GARD:18344 Supranuclear palsy, progressive, 2 skos:broadMatch Orphanet:240071 semapv:UnspecifiedMatching +GARD:18344 Supranuclear palsy, progressive, 2 skos:exactMatch OMIM:609454 semapv:UnspecifiedMatching +GARD:18345 Supranuclear palsy, progressive, 3 skos:broadMatch Orphanet:240071 semapv:UnspecifiedMatching +GARD:18345 Supranuclear palsy, progressive, 3 skos:exactMatch OMIM:610898 semapv:UnspecifiedMatching +GARD:18346 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 skos:broadMatch Orphanet:244305 semapv:UnspecifiedMatching +GARD:18346 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 skos:exactMatch OMIM:612286 semapv:UnspecifiedMatching +GARD:18347 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 skos:broadMatch Orphanet:244305 semapv:UnspecifiedMatching +GARD:18347 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 skos:exactMatch OMIM:612287 semapv:UnspecifiedMatching +GARD:18348 Pontocerebellar hypoplasia, type 2e skos:broadMatch Orphanet:247198 semapv:UnspecifiedMatching +GARD:18348 Pontocerebellar hypoplasia, type 2e skos:exactMatch OMIM:615851 semapv:UnspecifiedMatching +GARD:18349 Hyperphosphatasia with mental retardation syndrome 1 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +GARD:18349 Hyperphosphatasia with mental retardation syndrome 1 skos:exactMatch OMIM:239300 semapv:UnspecifiedMatching +GARD:18350 Hyperphosphatasia with mental retardation syndrome 3 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +GARD:18350 Hyperphosphatasia with mental retardation syndrome 3 skos:exactMatch OMIM:614207 semapv:UnspecifiedMatching +GARD:18351 Hyperphosphatasia with mental retardation syndrome 2 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +GARD:18351 Hyperphosphatasia with mental retardation syndrome 2 skos:exactMatch OMIM:614749 semapv:UnspecifiedMatching +GARD:18352 Hyperphosphatasia with mental retardation syndrome 4 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +GARD:18352 Hyperphosphatasia with mental retardation syndrome 4 skos:exactMatch OMIM:615716 semapv:UnspecifiedMatching +GARD:18353 Glycosylphosphatidylinositol biosynthesis defect 11 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +GARD:18353 Glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch OMIM:616025 semapv:UnspecifiedMatching +GARD:18354 Hyperphosphatasia with mental retardation syndrome 6 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +GARD:18354 Hyperphosphatasia with mental retardation syndrome 6 skos:exactMatch OMIM:616809 semapv:UnspecifiedMatching +GARD:18355 Erythrocytosis, familial, 3 skos:broadMatch Orphanet:247511 semapv:UnspecifiedMatching +GARD:18355 Erythrocytosis, familial, 3 skos:exactMatch OMIM:609820 semapv:UnspecifiedMatching +GARD:18356 Erythrocytosis, familial, 4 skos:broadMatch Orphanet:247511 semapv:UnspecifiedMatching +GARD:18356 Erythrocytosis, familial, 4 skos:exactMatch OMIM:611783 semapv:UnspecifiedMatching +GARD:18357 Fibromatosis, gingival, 5 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +GARD:18357 Fibromatosis, gingival, 5 skos:exactMatch OMIM:617626 semapv:UnspecifiedMatching +GARD:18358 Stickler syndrome, type iv skos:broadMatch Orphanet:250984 semapv:UnspecifiedMatching +GARD:18358 Stickler syndrome, type iv skos:exactMatch OMIM:614134 semapv:UnspecifiedMatching +GARD:18359 Stickler syndrome, type v skos:broadMatch Orphanet:250984 semapv:UnspecifiedMatching +GARD:18359 Stickler syndrome, type v skos:exactMatch OMIM:614284 semapv:UnspecifiedMatching +GARD:18360 Testicular anomalies with or without congenital heart disease skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +GARD:18360 Testicular anomalies with or without congenital heart disease skos:exactMatch OMIM:615542 semapv:UnspecifiedMatching +GARD:18361 46,xy sex reversal 9 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +GARD:18361 46,xy sex reversal 9 skos:exactMatch OMIM:616067 semapv:UnspecifiedMatching +GARD:18362 Mismatch repair cancer syndrome 2 skos:broadMatch Orphanet:252202 semapv:UnspecifiedMatching +GARD:18362 Mismatch repair cancer syndrome 2 skos:exactMatch OMIM:619096 semapv:UnspecifiedMatching +GARD:18363 Mismatch repair cancer syndrome 3 skos:broadMatch Orphanet:252202 semapv:UnspecifiedMatching +GARD:18363 Mismatch repair cancer syndrome 3 skos:exactMatch OMIM:619097 semapv:UnspecifiedMatching +GARD:18364 Mismatch repair cancer syndrome 4 skos:broadMatch Orphanet:252202 semapv:UnspecifiedMatching +GARD:18364 Mismatch repair cancer syndrome 4 skos:exactMatch OMIM:619101 semapv:UnspecifiedMatching +GARD:18365 Hydatidiform mole, recurrent, 1 skos:broadMatch Orphanet:254688 semapv:UnspecifiedMatching +GARD:18365 Hydatidiform mole, recurrent, 1 skos:exactMatch OMIM:231090 semapv:UnspecifiedMatching +GARD:18366 Hydatidiform mole, recurrent, 2 skos:broadMatch Orphanet:254688 semapv:UnspecifiedMatching +GARD:18366 Hydatidiform mole, recurrent, 2 skos:exactMatch OMIM:614293 semapv:UnspecifiedMatching +GARD:18367 Hydatidiform mole, recurrent, 3 skos:broadMatch Orphanet:254688 semapv:UnspecifiedMatching +GARD:18367 Hydatidiform mole, recurrent, 3 skos:exactMatch OMIM:618431 semapv:UnspecifiedMatching +GARD:18368 Hydatidiform mole, recurrent, 4 skos:broadMatch Orphanet:254688 semapv:UnspecifiedMatching +GARD:18368 Hydatidiform mole, recurrent, 4 skos:exactMatch OMIM:618432 semapv:UnspecifiedMatching +GARD:18369 Mitochondrial dna depletion syndrome 2 (myopathic type) skos:broadMatch Orphanet:254875 semapv:UnspecifiedMatching +GARD:18369 Mitochondrial dna depletion syndrome 2 (myopathic type) skos:exactMatch OMIM:609560 semapv:UnspecifiedMatching +GARD:18370 Mitochondrial dna depletion syndrome 19 skos:broadMatch Orphanet:254875 semapv:UnspecifiedMatching +GARD:18370 Mitochondrial dna depletion syndrome 19 skos:exactMatch OMIM:618972 semapv:UnspecifiedMatching +GARD:18371 Mitochondrial complex i deficiency, nuclear type 13 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:18371 Mitochondrial complex i deficiency, nuclear type 13 skos:exactMatch OMIM:618235 semapv:UnspecifiedMatching +GARD:18372 Mitochondrial complex i deficiency, nuclear type 17 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:18372 Mitochondrial complex i deficiency, nuclear type 17 skos:exactMatch OMIM:618239 semapv:UnspecifiedMatching +GARD:18373 Mitochondrial complex i deficiency, nuclear type 22 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:18373 Mitochondrial complex i deficiency, nuclear type 22 skos:exactMatch OMIM:618243 semapv:UnspecifiedMatching +GARD:18374 Mitochondrial complex i deficiency, nuclear type 23 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:18374 Mitochondrial complex i deficiency, nuclear type 23 skos:exactMatch OMIM:618244 semapv:UnspecifiedMatching +GARD:18375 Mitochondrial complex i deficiency, nuclear type 27 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:18375 Mitochondrial complex i deficiency, nuclear type 27 skos:exactMatch OMIM:618248 semapv:UnspecifiedMatching +GARD:18376 Mitochondrial complex i deficiency, nuclear type 28 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:18376 Mitochondrial complex i deficiency, nuclear type 28 skos:exactMatch OMIM:618249 semapv:UnspecifiedMatching +GARD:18377 Deafness, autosomal recessive 112 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +GARD:18377 Deafness, autosomal recessive 112 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:18377 Deafness, autosomal recessive 112 skos:exactMatch OMIM:618257 semapv:UnspecifiedMatching +GARD:18378 Coenzyme q10 deficiency, primary, 1 skos:broadMatch Orphanet:255249 semapv:UnspecifiedMatching +GARD:18378 Coenzyme q10 deficiency, primary, 1 skos:exactMatch OMIM:607426 semapv:UnspecifiedMatching +GARD:18379 Coenzyme q10 deficiency, primary, 3 skos:broadMatch Orphanet:255249 semapv:UnspecifiedMatching +GARD:18379 Coenzyme q10 deficiency, primary, 3 skos:exactMatch OMIM:614652 semapv:UnspecifiedMatching +GARD:18380 Anemia, sideroblastic, 4 skos:broadMatch Orphanet:260305 semapv:UnspecifiedMatching +GARD:18380 Anemia, sideroblastic, 4 skos:exactMatch OMIM:182170 semapv:UnspecifiedMatching +GARD:18381 Anemia, sideroblastic, 2, pyridoxine-refractory skos:broadMatch Orphanet:260305 semapv:UnspecifiedMatching +GARD:18381 Anemia, sideroblastic, 2, pyridoxine-refractory skos:exactMatch OMIM:205950 semapv:UnspecifiedMatching +GARD:18382 Kleefstra syndrome 2 skos:broadMatch Orphanet:261652 semapv:UnspecifiedMatching +GARD:18382 Kleefstra syndrome 2 skos:exactMatch OMIM:617768 semapv:UnspecifiedMatching +GARD:18383 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:broadMatch Orphanet:263347 semapv:UnspecifiedMatching +GARD:18383 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch OMIM:619082 semapv:UnspecifiedMatching +GARD:18384 Encephalopathy, acute, infection-induced, susceptibility to, 4 skos:broadMatch Orphanet:263524 semapv:UnspecifiedMatching +GARD:18384 Encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch OMIM:614212 semapv:UnspecifiedMatching +GARD:18385 Meningioma, familial, susceptibility to skos:broadMatch Orphanet:263662 semapv:UnspecifiedMatching +GARD:18385 Meningioma, familial, susceptibility to skos:exactMatch OMIM:607174 semapv:UnspecifiedMatching +GARD:18386 Glycogen storage disease ixa1 skos:broadMatch Orphanet:264580 semapv:UnspecifiedMatching +GARD:18386 Glycogen storage disease ixa1 skos:exactMatch OMIM:306000 semapv:UnspecifiedMatching +GARD:18387 Glycogen storage disease ixc skos:broadMatch Orphanet:264580 semapv:UnspecifiedMatching +GARD:18387 Glycogen storage disease ixc skos:exactMatch OMIM:613027 semapv:UnspecifiedMatching +GARD:18388 Maple syrup urine disease, mild variant skos:broadMatch Orphanet:268162 semapv:UnspecifiedMatching +GARD:18388 Maple syrup urine disease, mild variant skos:exactMatch OMIM:615135 semapv:UnspecifiedMatching +GARD:18389 Preeclampsia/eclampsia 1 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +GARD:18389 Preeclampsia/eclampsia 1 skos:exactMatch OMIM:189800 semapv:UnspecifiedMatching +GARD:1839 Transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching +GARD:1839 Transient neonatal diabetes mellitus skos:narrowMatch OMIM:601410 semapv:UnspecifiedMatching +GARD:1839 Transient neonatal diabetes mellitus skos:narrowMatch OMIM:610374 semapv:UnspecifiedMatching +GARD:1839 Transient neonatal diabetes mellitus skos:narrowMatch OMIM:610582 semapv:UnspecifiedMatching +GARD:18390 Preeclampsia/eclampsia 2 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +GARD:18390 Preeclampsia/eclampsia 2 skos:exactMatch OMIM:609402 semapv:UnspecifiedMatching +GARD:18391 Preeclampsia/eclampsia 3 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +GARD:18391 Preeclampsia/eclampsia 3 skos:exactMatch OMIM:609403 semapv:UnspecifiedMatching +GARD:18392 Preeclampsia/eclampsia 4 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +GARD:18392 Preeclampsia/eclampsia 4 skos:exactMatch OMIM:609404 semapv:UnspecifiedMatching +GARD:18393 Preeclampsia/eclampsia 5 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +GARD:18393 Preeclampsia/eclampsia 5 skos:exactMatch OMIM:614595 semapv:UnspecifiedMatching +GARD:18394 Pulmonary hypertension, primary, 2 skos:broadMatch Orphanet:275777 semapv:UnspecifiedMatching +GARD:18394 Pulmonary hypertension, primary, 2 skos:exactMatch OMIM:615342 semapv:UnspecifiedMatching +GARD:18395 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:broadMatch Orphanet:275864 semapv:UnspecifiedMatching +GARD:18395 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:exactMatch OMIM:619132 semapv:UnspecifiedMatching +GARD:18396 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:18396 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch OMIM:105550 semapv:UnspecifiedMatching +GARD:18397 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:18397 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch OMIM:615911 semapv:UnspecifiedMatching +GARD:18398 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:18398 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch OMIM:616439 semapv:UnspecifiedMatching +GARD:18399 Spermatogenic failure 3 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18399 Spermatogenic failure 3 skos:exactMatch OMIM:606766 semapv:UnspecifiedMatching +GARD:184 Yellow nail syndrome skos:exactMatch Orphanet:662 semapv:UnspecifiedMatching +GARD:184 Yellow nail syndrome skos:narrowMatch OMIM:153300 semapv:UnspecifiedMatching +GARD:18400 Spermatogenic failure 7 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18400 Spermatogenic failure 7 skos:exactMatch OMIM:612997 semapv:UnspecifiedMatching +GARD:18401 Spermatogenic failure 10 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18401 Spermatogenic failure 10 skos:exactMatch OMIM:614822 semapv:UnspecifiedMatching +GARD:18402 Spermatogenic failure 18 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18402 Spermatogenic failure 18 skos:exactMatch OMIM:617576 semapv:UnspecifiedMatching +GARD:18403 Spermatogenic failure 19 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18403 Spermatogenic failure 19 skos:exactMatch OMIM:617592 semapv:UnspecifiedMatching +GARD:18404 Spermatogenic failure 20 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18404 Spermatogenic failure 20 skos:exactMatch OMIM:617593 semapv:UnspecifiedMatching +GARD:18405 Spermatogenic failure 27 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18405 Spermatogenic failure 27 skos:exactMatch OMIM:617965 semapv:UnspecifiedMatching +GARD:18406 Spermatogenic failure 33 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18406 Spermatogenic failure 33 skos:exactMatch OMIM:618152 semapv:UnspecifiedMatching +GARD:18407 Spermatogenic failure 34 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18407 Spermatogenic failure 34 skos:exactMatch OMIM:618153 semapv:UnspecifiedMatching +GARD:18408 Spermatogenic failure 37 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18408 Spermatogenic failure 37 skos:exactMatch OMIM:618429 semapv:UnspecifiedMatching +GARD:18409 Spermatogenic failure 38 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18409 Spermatogenic failure 38 skos:exactMatch OMIM:618433 semapv:UnspecifiedMatching +GARD:18410 Spermatogenic failure 39 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18410 Spermatogenic failure 39 skos:exactMatch OMIM:618643 semapv:UnspecifiedMatching +GARD:18411 Spermatogenic failure 40 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18411 Spermatogenic failure 40 skos:exactMatch OMIM:618664 semapv:UnspecifiedMatching +GARD:18412 Spermatogenic failure 41 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18412 Spermatogenic failure 41 skos:exactMatch OMIM:618670 semapv:UnspecifiedMatching +GARD:18413 Spermatogenic failure 42 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18413 Spermatogenic failure 42 skos:exactMatch OMIM:618745 semapv:UnspecifiedMatching +GARD:18414 Spermatogenic failure 43 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +GARD:18414 Spermatogenic failure 43 skos:exactMatch OMIM:618751 semapv:UnspecifiedMatching +GARD:18415 Vitamin d hydroxylation-deficient rickets, type 1b skos:broadMatch Orphanet:289157 semapv:UnspecifiedMatching +GARD:18415 Vitamin d hydroxylation-deficient rickets, type 1b skos:exactMatch OMIM:600081 semapv:UnspecifiedMatching +GARD:18416 Hypophosphatemic rickets, autosomal recessive, 1 skos:broadMatch Orphanet:289176 semapv:UnspecifiedMatching +GARD:18416 Hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch OMIM:241520 semapv:UnspecifiedMatching +GARD:18417 Hypophosphatemic rickets, autosomal recessive, 2 skos:broadMatch Orphanet:289176 semapv:UnspecifiedMatching +GARD:18417 Hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch OMIM:613312 semapv:UnspecifiedMatching +GARD:18418 Vesicoureteral reflux 1 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:18418 Vesicoureteral reflux 1 skos:exactMatch OMIM:193000 semapv:UnspecifiedMatching +GARD:18419 Vesicoureteral reflux 2 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:18419 Vesicoureteral reflux 2 skos:exactMatch OMIM:610878 semapv:UnspecifiedMatching +GARD:18420 Vesicoureteral reflux 3 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:18420 Vesicoureteral reflux 3 skos:exactMatch OMIM:613674 semapv:UnspecifiedMatching +GARD:18421 Vesicoureteral reflux 4 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:18421 Vesicoureteral reflux 4 skos:exactMatch OMIM:614317 semapv:UnspecifiedMatching +GARD:18422 Vesicoureteral reflux 5 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:18422 Vesicoureteral reflux 5 skos:exactMatch OMIM:614318 semapv:UnspecifiedMatching +GARD:18423 Vesicoureteral reflux 6 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:18423 Vesicoureteral reflux 6 skos:exactMatch OMIM:614319 semapv:UnspecifiedMatching +GARD:18424 Vesicoureteral reflux 7 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:18424 Vesicoureteral reflux 7 skos:exactMatch OMIM:615390 semapv:UnspecifiedMatching +GARD:18425 Vesicoureteral reflux 8 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +GARD:18425 Vesicoureteral reflux 8 skos:exactMatch OMIM:615963 semapv:UnspecifiedMatching +GARD:18426 Peeling skin syndrome 4 skos:broadMatch Orphanet:289586 semapv:UnspecifiedMatching +GARD:18426 Peeling skin syndrome 4 skos:exactMatch OMIM:607936 semapv:UnspecifiedMatching +GARD:18427 Peeling skin syndrome 5 skos:broadMatch Orphanet:289586 semapv:UnspecifiedMatching +GARD:18427 Peeling skin syndrome 5 skos:exactMatch OMIM:617115 semapv:UnspecifiedMatching +GARD:18428 3mc syndrome 2 skos:broadMatch Orphanet:293843 semapv:UnspecifiedMatching +GARD:18428 3mc syndrome 2 skos:exactMatch OMIM:265050 semapv:UnspecifiedMatching +GARD:18429 Inflammatory skin and bowel disease, neonatal, 1 skos:broadMatch Orphanet:294023 semapv:UnspecifiedMatching +GARD:18429 Inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch OMIM:614328 semapv:UnspecifiedMatching +GARD:18430 Inflammatory skin and bowel disease, neonatal, 2 skos:broadMatch Orphanet:294023 semapv:UnspecifiedMatching +GARD:18430 Inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch OMIM:616069 semapv:UnspecifiedMatching +GARD:18431 Renal-hepatic-pancreatic dysplasia 1 skos:broadMatch Orphanet:294415 semapv:UnspecifiedMatching +GARD:18431 Renal-hepatic-pancreatic dysplasia 1 skos:exactMatch OMIM:208540 semapv:UnspecifiedMatching +GARD:18432 Renal-hepatic-pancreatic dysplasia 2 skos:broadMatch Orphanet:294415 semapv:UnspecifiedMatching +GARD:18432 Renal-hepatic-pancreatic dysplasia 2 skos:exactMatch OMIM:615415 semapv:UnspecifiedMatching +GARD:18433 Chromosome xq26.3 duplication syndrome skos:broadMatch Orphanet:300373 semapv:UnspecifiedMatching +GARD:18433 Chromosome xq26.3 duplication syndrome skos:exactMatch OMIM:300942 semapv:UnspecifiedMatching +GARD:18434 Hypercalcemia, infantile, 1 skos:broadMatch Orphanet:300547 semapv:UnspecifiedMatching +GARD:18434 Hypercalcemia, infantile, 1 skos:exactMatch OMIM:143880 semapv:UnspecifiedMatching +GARD:18435 Hypercalcemia, infantile, 2 skos:broadMatch Orphanet:300547 semapv:UnspecifiedMatching +GARD:18435 Hypercalcemia, infantile, 2 skos:exactMatch OMIM:616963 semapv:UnspecifiedMatching +GARD:18436 Facial paresis, hereditary congenital, 2 skos:broadMatch Orphanet:306530 semapv:UnspecifiedMatching +GARD:18436 Facial paresis, hereditary congenital, 2 skos:exactMatch OMIM:604185 semapv:UnspecifiedMatching +GARD:18437 Facial paresis, hereditary congenital, 3 skos:broadMatch Orphanet:306530 semapv:UnspecifiedMatching +GARD:18437 Facial paresis, hereditary congenital, 3 skos:exactMatch OMIM:614744 semapv:UnspecifiedMatching +GARD:18438 Microcephaly, epilepsy, and diabetes syndrome 1 skos:broadMatch Orphanet:306558 semapv:UnspecifiedMatching +GARD:18438 Microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch OMIM:614231 semapv:UnspecifiedMatching +GARD:18439 Microcephaly, epilepsy, and diabetes syndrome 2 skos:broadMatch Orphanet:306558 semapv:UnspecifiedMatching +GARD:18439 Microcephaly, epilepsy, and diabetes syndrome 2 skos:exactMatch OMIM:619278 semapv:UnspecifiedMatching +GARD:18440 Episodic pain syndrome, familial, 2 skos:broadMatch Orphanet:306577 semapv:UnspecifiedMatching +GARD:18440 Episodic pain syndrome, familial, 2 skos:exactMatch OMIM:615551 semapv:UnspecifiedMatching +GARD:18441 Cerebroretinal microangiopathy with calcifications and cysts 1 skos:broadMatch Orphanet:313838 semapv:UnspecifiedMatching +GARD:18441 Cerebroretinal microangiopathy with calcifications and cysts 1 skos:exactMatch OMIM:612199 semapv:UnspecifiedMatching +GARD:18442 Cerebroretinal microangiopathy with calcifications and cysts 2 skos:broadMatch Orphanet:313838 semapv:UnspecifiedMatching +GARD:18442 Cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch OMIM:617341 semapv:UnspecifiedMatching +GARD:18443 Spinal muscular atrophy, distal, autosomal recessive, 5 skos:broadMatch Orphanet:314485 semapv:UnspecifiedMatching +GARD:18443 Spinal muscular atrophy, distal, autosomal recessive, 5 skos:exactMatch OMIM:614881 semapv:UnspecifiedMatching +GARD:18444 Neuropathy, hereditary motor, with myopathic features skos:broadMatch Orphanet:314485 semapv:UnspecifiedMatching +GARD:18444 Neuropathy, hereditary motor, with myopathic features skos:exactMatch OMIM:619216 semapv:UnspecifiedMatching +GARD:18445 Renal cell carcinoma, xp11-associated skos:broadMatch Orphanet:319308 semapv:UnspecifiedMatching +GARD:18445 Renal cell carcinoma, xp11-associated skos:exactMatch OMIM:300854 semapv:UnspecifiedMatching +GARD:18446 Proteasome-associated autoinflammatory syndrome 3 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +GARD:18446 Proteasome-associated autoinflammatory syndrome 3 skos:exactMatch OMIM:617591 semapv:UnspecifiedMatching +GARD:18447 Proteasome-associated autoinflammatory syndrome 2 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +GARD:18447 Proteasome-associated autoinflammatory syndrome 2 skos:exactMatch OMIM:618048 semapv:UnspecifiedMatching +GARD:18448 Proteasome-associated autoinflammatory syndrome 5 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +GARD:18448 Proteasome-associated autoinflammatory syndrome 5 skos:exactMatch OMIM:619175 semapv:UnspecifiedMatching +GARD:18449 Proteasome-associated autoinflammatory syndrome 4 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +GARD:18449 Proteasome-associated autoinflammatory syndrome 4 skos:exactMatch OMIM:619183 semapv:UnspecifiedMatching +GARD:18450 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 skos:broadMatch Orphanet:329336 semapv:UnspecifiedMatching +GARD:18450 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 skos:exactMatch OMIM:616479 semapv:UnspecifiedMatching +GARD:18451 Myasthenic syndrome, congenital, 12 skos:broadMatch Orphanet:353327 semapv:UnspecifiedMatching +GARD:18451 Myasthenic syndrome, congenital, 12 skos:exactMatch OMIM:610542 semapv:UnspecifiedMatching +GARD:18452 Myasthenic syndrome, congenital, 13 skos:broadMatch Orphanet:353327 semapv:UnspecifiedMatching +GARD:18452 Myasthenic syndrome, congenital, 13 skos:exactMatch OMIM:614750 semapv:UnspecifiedMatching +GARD:18453 Myasthenic syndrome, congenital, 15 skos:broadMatch Orphanet:353327 semapv:UnspecifiedMatching +GARD:18453 Myasthenic syndrome, congenital, 15 skos:exactMatch OMIM:616227 semapv:UnspecifiedMatching +GARD:18454 Myasthenic syndrome, congenital, 14 skos:broadMatch Orphanet:353327 semapv:UnspecifiedMatching +GARD:18454 Myasthenic syndrome, congenital, 14 skos:exactMatch OMIM:616228 semapv:UnspecifiedMatching +GARD:18455 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 skos:broadMatch Orphanet:370959 semapv:UnspecifiedMatching +GARD:18455 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 skos:exactMatch OMIM:613151 semapv:UnspecifiedMatching +GARD:18456 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 skos:broadMatch Orphanet:370980 semapv:UnspecifiedMatching +GARD:18456 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 skos:exactMatch OMIM:613152 semapv:UnspecifiedMatching +GARD:18457 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:broadMatch Orphanet:371364 semapv:UnspecifiedMatching +GARD:18457 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:exactMatch OMIM:615419 semapv:UnspecifiedMatching +GARD:18458 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:broadMatch Orphanet:371364 semapv:UnspecifiedMatching +GARD:18458 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:exactMatch OMIM:616801 semapv:UnspecifiedMatching +GARD:18459 Microcephaly, short stature, and impaired glucose metabolism 1 skos:broadMatch Orphanet:391408 semapv:UnspecifiedMatching +GARD:18459 Microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch OMIM:616033 semapv:UnspecifiedMatching +GARD:18460 Microcephaly, short stature, and impaired glucose metabolism 2 skos:broadMatch Orphanet:391408 semapv:UnspecifiedMatching +GARD:18460 Microcephaly, short stature, and impaired glucose metabolism 2 skos:exactMatch OMIM:616817 semapv:UnspecifiedMatching +GARD:18461 Parkinson disease 19a, juvenile-onset skos:broadMatch Orphanet:391411 semapv:UnspecifiedMatching +GARD:18461 Parkinson disease 19a, juvenile-onset skos:exactMatch OMIM:615528 semapv:UnspecifiedMatching +GARD:18462 Parkinson disease 20, early-onset skos:broadMatch Orphanet:391411 semapv:UnspecifiedMatching +GARD:18462 Parkinson disease 20, early-onset skos:exactMatch OMIM:615530 semapv:UnspecifiedMatching +GARD:18463 Silver-russell syndrome 3 skos:broadMatch Orphanet:397590 semapv:UnspecifiedMatching +GARD:18463 Silver-russell syndrome 3 skos:exactMatch OMIM:616489 semapv:UnspecifiedMatching +GARD:18464 Silver-russell syndrome 4 skos:broadMatch Orphanet:397590 semapv:UnspecifiedMatching +GARD:18464 Silver-russell syndrome 4 skos:exactMatch OMIM:618907 semapv:UnspecifiedMatching +GARD:18465 Silver-russell syndrome 5 skos:broadMatch Orphanet:397590 semapv:UnspecifiedMatching +GARD:18465 Silver-russell syndrome 5 skos:exactMatch OMIM:618908 semapv:UnspecifiedMatching +GARD:18466 Combined oxidative phosphorylation deficiency 19 skos:broadMatch Orphanet:397593 semapv:UnspecifiedMatching +GARD:18466 Combined oxidative phosphorylation deficiency 19 skos:exactMatch OMIM:615595 semapv:UnspecifiedMatching +GARD:18467 Short-rib thoracic dysplasia 14 with polydactyly skos:broadMatch Orphanet:397715 semapv:UnspecifiedMatching +GARD:18467 Short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch OMIM:616546 semapv:UnspecifiedMatching +GARD:18468 Immunodeficiency 15b skos:broadMatch Orphanet:397787 semapv:UnspecifiedMatching +GARD:18468 Immunodeficiency 15b skos:exactMatch OMIM:615592 semapv:UnspecifiedMatching +GARD:18469 Immunodeficiency 15a skos:broadMatch Orphanet:397787 semapv:UnspecifiedMatching +GARD:18469 Immunodeficiency 15a skos:exactMatch OMIM:618204 semapv:UnspecifiedMatching +GARD:18470 Aortic valve disease 1 skos:broadMatch Orphanet:402075 semapv:UnspecifiedMatching +GARD:18470 Aortic valve disease 1 skos:exactMatch OMIM:109730 semapv:UnspecifiedMatching +GARD:18471 Aortic valve disease 2 skos:broadMatch Orphanet:402075 semapv:UnspecifiedMatching +GARD:18471 Aortic valve disease 2 skos:exactMatch OMIM:614823 semapv:UnspecifiedMatching +GARD:18472 Melanoma, cutaneous malignant, susceptibility to, 1 skos:broadMatch Orphanet:404560 semapv:UnspecifiedMatching +GARD:18472 Melanoma, cutaneous malignant, susceptibility to, 1 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18472 Melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch OMIM:155600 semapv:UnspecifiedMatching +GARD:18473 Melanoma-pancreatic cancer syndrome skos:broadMatch Orphanet:404560 semapv:UnspecifiedMatching +GARD:18473 Melanoma-pancreatic cancer syndrome skos:exactMatch OMIM:606719 semapv:UnspecifiedMatching +GARD:18474 Parkinson disease 1, autosomal dominant skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +GARD:18474 Parkinson disease 1, autosomal dominant skos:exactMatch OMIM:168601 semapv:UnspecifiedMatching +GARD:18475 Parkinson disease 4, autosomal dominant skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +GARD:18475 Parkinson disease 4, autosomal dominant skos:exactMatch OMIM:605543 semapv:UnspecifiedMatching +GARD:18476 Parkinson disease 8, autosomal dominant skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +GARD:18476 Parkinson disease 8, autosomal dominant skos:exactMatch OMIM:607060 semapv:UnspecifiedMatching +GARD:18477 Parkinson disease 11, autosomal dominant, susceptibility to skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +GARD:18477 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch OMIM:607688 semapv:UnspecifiedMatching +GARD:18478 Parkinson disease 17 skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +GARD:18478 Parkinson disease 17 skos:exactMatch OMIM:614203 semapv:UnspecifiedMatching +GARD:18479 Parkinson disease 18, autosomal dominant, susceptibility to skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +GARD:18479 Parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch OMIM:614251 semapv:UnspecifiedMatching +GARD:18480 Parkinson disease 21 skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +GARD:18480 Parkinson disease 21 skos:exactMatch OMIM:616361 semapv:UnspecifiedMatching +GARD:18481 Microcephaly and chorioretinopathy, autosomal recessive, 1 skos:broadMatch Orphanet:2518 semapv:UnspecifiedMatching +GARD:18481 Microcephaly and chorioretinopathy, autosomal recessive, 1 skos:exactMatch OMIM:251270 semapv:UnspecifiedMatching +GARD:18482 Microcephaly and chorioretinopathy, autosomal recessive, 3 skos:broadMatch Orphanet:2518 semapv:UnspecifiedMatching +GARD:18482 Microcephaly and chorioretinopathy, autosomal recessive, 3 skos:exactMatch OMIM:616335 semapv:UnspecifiedMatching +GARD:18483 Short stature, microcephaly, and endocrine dysfunction skos:broadMatch Orphanet:436182 semapv:UnspecifiedMatching +GARD:18483 Short stature, microcephaly, and endocrine dysfunction skos:exactMatch OMIM:616541 semapv:UnspecifiedMatching +GARD:18484 Seckel syndrome 10 skos:broadMatch Orphanet:436182 semapv:UnspecifiedMatching +GARD:18484 Seckel syndrome 10 skos:exactMatch OMIM:617253 semapv:UnspecifiedMatching +GARD:18485 Colorectal cancer, susceptibility to, 10 skos:broadMatch Orphanet:447877 semapv:UnspecifiedMatching +GARD:18485 Colorectal cancer, susceptibility to, 10 skos:exactMatch OMIM:612591 semapv:UnspecifiedMatching +GARD:18486 Colorectal cancer, susceptibility to, 12 skos:broadMatch Orphanet:447877 semapv:UnspecifiedMatching +GARD:18486 Colorectal cancer, susceptibility to, 12 skos:exactMatch OMIM:615083 semapv:UnspecifiedMatching +GARD:18487 Palmoplantar keratoderma, nonepidermolytic, focal 1 skos:broadMatch Orphanet:448264 semapv:UnspecifiedMatching +GARD:18487 Palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch OMIM:613000 semapv:UnspecifiedMatching +GARD:18488 Palmoplantar keratoderma, nonepidermolytic, focal 2 skos:broadMatch Orphanet:448264 semapv:UnspecifiedMatching +GARD:18488 Palmoplantar keratoderma, nonepidermolytic, focal 2 skos:exactMatch OMIM:616400 semapv:UnspecifiedMatching +GARD:18489 Patent ductus arteriosus 2 skos:broadMatch Orphanet:466729 semapv:UnspecifiedMatching +GARD:18489 Patent ductus arteriosus 2 skos:exactMatch OMIM:617035 semapv:UnspecifiedMatching +GARD:18490 Patent ductus arteriosus 3 skos:broadMatch Orphanet:466729 semapv:UnspecifiedMatching +GARD:18490 Patent ductus arteriosus 3 skos:exactMatch OMIM:617039 semapv:UnspecifiedMatching +GARD:18491 Bleeding disorder, platelet-type, 20 skos:broadMatch Orphanet:466806 semapv:UnspecifiedMatching +GARD:18491 Bleeding disorder, platelet-type, 20 skos:exactMatch OMIM:616913 semapv:UnspecifiedMatching +GARD:18492 Thrombocytopenia 7 skos:broadMatch Orphanet:466806 semapv:UnspecifiedMatching +GARD:18492 Thrombocytopenia 7 skos:exactMatch OMIM:619130 semapv:UnspecifiedMatching +GARD:18493 Chilblain lupus 1 skos:broadMatch Orphanet:481662 semapv:UnspecifiedMatching +GARD:18493 Chilblain lupus 1 skos:exactMatch OMIM:610448 semapv:UnspecifiedMatching +GARD:18494 Chilblain lupus 2 skos:broadMatch Orphanet:481662 semapv:UnspecifiedMatching +GARD:18494 Chilblain lupus 2 skos:exactMatch OMIM:614415 semapv:UnspecifiedMatching +GARD:18495 Spinal muscular atrophy with congenital bone fractures 2 skos:broadMatch Orphanet:486811 semapv:UnspecifiedMatching +GARD:18495 Spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch OMIM:616867 semapv:UnspecifiedMatching +GARD:18496 Oocyte maturation defect 2 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +GARD:18496 Oocyte maturation defect 2 skos:exactMatch OMIM:616780 semapv:UnspecifiedMatching +GARD:18497 Oocyte maturation defect 4 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +GARD:18497 Oocyte maturation defect 4 skos:exactMatch OMIM:617743 semapv:UnspecifiedMatching +GARD:18498 Oocyte maturation defect 8 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +GARD:18498 Oocyte maturation defect 8 skos:exactMatch OMIM:619009 semapv:UnspecifiedMatching +GARD:18499 Oocyte maturation defect 9 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +GARD:18499 Oocyte maturation defect 9 skos:exactMatch OMIM:619011 semapv:UnspecifiedMatching +GARD:1850 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch Orphanet:37042 semapv:UnspecifiedMatching +GARD:1850 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:narrowMatch OMIM:304790 semapv:UnspecifiedMatching +GARD:18500 Oocyte maturation defect 10 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +GARD:18500 Oocyte maturation defect 10 skos:exactMatch OMIM:619176 semapv:UnspecifiedMatching +GARD:18501 Intellectual developmental disorder, autosomal dominant 42 skos:broadMatch Orphanet:488613 semapv:UnspecifiedMatching +GARD:18501 Intellectual developmental disorder, autosomal dominant 42 skos:exactMatch OMIM:616973 semapv:UnspecifiedMatching +GARD:18502 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy skos:broadMatch Orphanet:488635 semapv:UnspecifiedMatching +GARD:18502 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy skos:exactMatch OMIM:616917 semapv:UnspecifiedMatching +GARD:18503 Spermatogenic failure, y-linked, 1 skos:broadMatch Orphanet:1646 semapv:UnspecifiedMatching +GARD:18503 Spermatogenic failure, y-linked, 1 skos:exactMatch OMIM:400042 semapv:UnspecifiedMatching +GARD:18504 Spermatogenic failure, y-linked, 2 skos:broadMatch Orphanet:1646 semapv:UnspecifiedMatching +GARD:18504 Spermatogenic failure, y-linked, 2 skos:exactMatch OMIM:415000 semapv:UnspecifiedMatching +GARD:18505 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:broadMatch Orphanet:495930 semapv:UnspecifiedMatching +GARD:18505 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch OMIM:252270 semapv:UnspecifiedMatching +GARD:18506 Monosomy 7 myelodysplasia and leukemia syndrome 2 skos:broadMatch Orphanet:495930 semapv:UnspecifiedMatching +GARD:18506 Monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch OMIM:619041 semapv:UnspecifiedMatching +GARD:18507 Microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:broadMatch Orphanet:508512 semapv:UnspecifiedMatching +GARD:18507 Microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:exactMatch OMIM:618097 semapv:UnspecifiedMatching +GARD:18508 Vertebral, cardiac, renal, and limb defects syndrome 1 skos:broadMatch Orphanet:521438 semapv:UnspecifiedMatching +GARD:18508 Vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch OMIM:617660 semapv:UnspecifiedMatching +GARD:18509 Vertebral, cardiac, renal, and limb defects syndrome 2 skos:broadMatch Orphanet:521438 semapv:UnspecifiedMatching +GARD:18509 Vertebral, cardiac, renal, and limb defects syndrome 2 skos:exactMatch OMIM:617661 semapv:UnspecifiedMatching +GARD:1851 Split cord malformation type I skos:exactMatch Orphanet:1671 semapv:UnspecifiedMatching +GARD:1851 Split cord malformation type I skos:narrowMatch OMIM:222500 semapv:UnspecifiedMatching +GARD:18510 Vertebral, cardiac, renal, and limb defects syndrome 3 skos:broadMatch Orphanet:521438 semapv:UnspecifiedMatching +GARD:18510 Vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch OMIM:618845 semapv:UnspecifiedMatching +GARD:18511 Shukla-vernon syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18511 Shukla-vernon syndrome skos:exactMatch OMIM:301029 semapv:UnspecifiedMatching +GARD:18512 Intellectual developmental disorder with autism and speech delay skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18512 Intellectual developmental disorder with autism and speech delay skos:exactMatch OMIM:606053 semapv:UnspecifiedMatching +GARD:18513 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18513 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 semapv:UnspecifiedMatching +GARD:18514 Intellectual developmental disorder, autosomal dominant 61 skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18514 Intellectual developmental disorder, autosomal dominant 61 skos:exactMatch OMIM:618009 semapv:UnspecifiedMatching +GARD:18515 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18515 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch OMIM:618292 semapv:UnspecifiedMatching +GARD:18516 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18516 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch OMIM:618342 semapv:UnspecifiedMatching +GARD:18517 Developmental delay with variable intellectual impairment and behavioral abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18517 Developmental delay with variable intellectual impairment and behavioral abnormalities skos:exactMatch OMIM:618430 semapv:UnspecifiedMatching +GARD:18518 Intellectual developmental disorder with severe speech and ambulation defects skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18518 Intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch OMIM:618470 semapv:UnspecifiedMatching +GARD:18519 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18519 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch OMIM:618569 semapv:UnspecifiedMatching +GARD:18520 Intellectual developmental disorder with impaired language and dysmorphic facies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18520 Intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch OMIM:618653 semapv:UnspecifiedMatching +GARD:18521 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18521 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch OMIM:618659 semapv:UnspecifiedMatching +GARD:18522 Intellectual developmental disorder with autistic features and language delay, with or without seizures skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18522 Intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch OMIM:618906 semapv:UnspecifiedMatching +GARD:18523 Neurodevelopmental, jaw, eye, and digital syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18523 Neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch OMIM:618914 semapv:UnspecifiedMatching +GARD:18524 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18524 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch OMIM:618922 semapv:UnspecifiedMatching +GARD:18525 Tolchin-le caignec syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18525 Tolchin-le caignec syndrome skos:exactMatch OMIM:618971 semapv:UnspecifiedMatching +GARD:18526 Li-ghorbani-weisz-hubshman syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18526 Li-ghorbani-weisz-hubshman syndrome skos:exactMatch OMIM:618974 semapv:UnspecifiedMatching +GARD:18527 Intellectual developmental disorder with seizures and language delay skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18527 Intellectual developmental disorder with seizures and language delay skos:exactMatch OMIM:619000 semapv:UnspecifiedMatching +GARD:18528 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18528 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch OMIM:619005 semapv:UnspecifiedMatching +GARD:18529 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18529 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch OMIM:619031 semapv:UnspecifiedMatching +GARD:18530 Neurodevelopmental disorder with speech impairment and dysmorphic facies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18530 Neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch OMIM:619056 semapv:UnspecifiedMatching +GARD:18531 Neurodevelopmental disorder with seizures and brain atrophy skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18531 Neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch OMIM:619072 semapv:UnspecifiedMatching +GARD:18532 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18532 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch OMIM:619076 semapv:UnspecifiedMatching +GARD:18533 Delpire-mcneill syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18533 Delpire-mcneill syndrome skos:exactMatch OMIM:619083 semapv:UnspecifiedMatching +GARD:18534 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18534 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch OMIM:619091 semapv:UnspecifiedMatching +GARD:18535 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18535 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch OMIM:619092 semapv:UnspecifiedMatching +GARD:18536 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18536 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch OMIM:619099 semapv:UnspecifiedMatching +GARD:18537 Kaya-barakat-masson syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18537 Kaya-barakat-masson syndrome skos:exactMatch OMIM:619125 semapv:UnspecifiedMatching +GARD:18538 Lessel-kreienkamp syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18538 Lessel-kreienkamp syndrome skos:exactMatch OMIM:619149 semapv:UnspecifiedMatching +GARD:18539 Neurodevelopmental disorder with or without early-onset generalized epilepsy skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18539 Neurodevelopmental disorder with or without early-onset generalized epilepsy skos:exactMatch OMIM:619157 semapv:UnspecifiedMatching +GARD:18540 Neurodevelopmental disorder with or without autism or seizures skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18540 Neurodevelopmental disorder with or without autism or seizures skos:exactMatch OMIM:619239 semapv:UnspecifiedMatching +GARD:18541 Global developmental delay with speech and behavioral abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18541 Global developmental delay with speech and behavioral abnormalities skos:exactMatch OMIM:619243 semapv:UnspecifiedMatching +GARD:18542 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18542 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch OMIM:619244 semapv:UnspecifiedMatching +GARD:18543 Neurodevelopmental disorder with dysmorphic facies and variable seizures skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18543 Neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch OMIM:619264 semapv:UnspecifiedMatching +GARD:18544 Alzahrani-kuwahara syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18544 Alzahrani-kuwahara syndrome skos:exactMatch OMIM:619268 semapv:UnspecifiedMatching +GARD:18545 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18545 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:exactMatch OMIM:619306 semapv:UnspecifiedMatching +GARD:18546 Buratti-harel syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18546 Buratti-harel syndrome skos:exactMatch OMIM:619314 semapv:UnspecifiedMatching +GARD:18547 Intellectual developmental disorder, autosomal dominant 65 skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:18547 Intellectual developmental disorder, autosomal dominant 65 skos:exactMatch OMIM:619320 semapv:UnspecifiedMatching +GARD:18548 Robinow syndrome, autosomal dominant 2 skos:broadMatch Orphanet:3107 semapv:UnspecifiedMatching +GARD:18548 Robinow syndrome, autosomal dominant 2 skos:exactMatch OMIM:616331 semapv:UnspecifiedMatching +GARD:18549 Robinow syndrome, autosomal dominant 3 skos:broadMatch Orphanet:3107 semapv:UnspecifiedMatching +GARD:18549 Robinow syndrome, autosomal dominant 3 skos:exactMatch OMIM:616894 semapv:UnspecifiedMatching +GARD:1855 Dicarboxylic aminoaciduria skos:exactMatch Orphanet:2195 semapv:UnspecifiedMatching +GARD:1855 Dicarboxylic aminoaciduria skos:narrowMatch OMIM:222730 semapv:UnspecifiedMatching +GARD:18550 Hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:18550 Hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:exactMatch OMIM:235400 semapv:UnspecifiedMatching +GARD:18551 Complement factor h deficiency skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:18551 Complement factor h deficiency skos:exactMatch OMIM:609814 semapv:UnspecifiedMatching +GARD:18552 Hemolytic uremic syndrome, atypical, susceptibility to, 2 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:18552 Hemolytic uremic syndrome, atypical, susceptibility to, 2 skos:exactMatch OMIM:612922 semapv:UnspecifiedMatching +GARD:18553 Hemolytic uremic syndrome, atypical, susceptibility to, 3 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:18553 Hemolytic uremic syndrome, atypical, susceptibility to, 3 skos:exactMatch OMIM:612923 semapv:UnspecifiedMatching +GARD:18554 Hemolytic uremic syndrome, atypical, susceptibility to, 4 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:18554 Hemolytic uremic syndrome, atypical, susceptibility to, 4 skos:exactMatch OMIM:612924 semapv:UnspecifiedMatching +GARD:18555 Hemolytic uremic syndrome, atypical, susceptibility to, 5 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:18555 Hemolytic uremic syndrome, atypical, susceptibility to, 5 skos:exactMatch OMIM:612925 semapv:UnspecifiedMatching +GARD:18556 Hemolytic uremic syndrome, atypical, susceptibility to, 6 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:18556 Hemolytic uremic syndrome, atypical, susceptibility to, 6 skos:exactMatch OMIM:612926 semapv:UnspecifiedMatching +GARD:18557 Nephrotic syndrome, type 7 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +GARD:18557 Nephrotic syndrome, type 7 skos:exactMatch OMIM:615008 semapv:UnspecifiedMatching +GARD:18558 Trigonocephaly 1 skos:broadMatch Orphanet:3366 semapv:UnspecifiedMatching +GARD:18558 Trigonocephaly 1 skos:exactMatch OMIM:190440 semapv:UnspecifiedMatching +GARD:18559 Trigonocephaly 2 skos:broadMatch Orphanet:3366 semapv:UnspecifiedMatching +GARD:18559 Trigonocephaly 2 skos:exactMatch OMIM:614485 semapv:UnspecifiedMatching +GARD:18560 Endove syndrome, limb-only type skos:broadMatch Orphanet:611223 semapv:UnspecifiedMatching +GARD:18560 Endove syndrome, limb-only type skos:exactMatch OMIM:619217 semapv:UnspecifiedMatching +GARD:18561 Endove syndrome, limb-brain type skos:broadMatch Orphanet:611223 semapv:UnspecifiedMatching +GARD:18561 Endove syndrome, limb-brain type skos:exactMatch OMIM:619218 semapv:UnspecifiedMatching +GARD:18562 Pontocerebellar hypoplasia, type 14 skos:broadMatch Orphanet:613274 semapv:UnspecifiedMatching +GARD:18562 Pontocerebellar hypoplasia, type 14 skos:exactMatch OMIM:619301 semapv:UnspecifiedMatching +GARD:18563 Pontocerebellar hypoplasia, type 15 skos:broadMatch Orphanet:613274 semapv:UnspecifiedMatching +GARD:18563 Pontocerebellar hypoplasia, type 15 skos:exactMatch OMIM:619302 semapv:UnspecifiedMatching +GARD:18564 Lethal congenital contracture syndrome 7 skos:broadMatch Orphanet:2680 semapv:UnspecifiedMatching +GARD:18564 Lethal congenital contracture syndrome 7 skos:exactMatch OMIM:616286 semapv:UnspecifiedMatching +GARD:18565 Lethal congenital contracture syndrome 8 skos:broadMatch Orphanet:2680 semapv:UnspecifiedMatching +GARD:18565 Lethal congenital contracture syndrome 8 skos:exactMatch OMIM:616287 semapv:UnspecifiedMatching +GARD:18566 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:broadMatch Orphanet:2680 semapv:UnspecifiedMatching +GARD:18566 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch OMIM:617468 semapv:UnspecifiedMatching +GARD:18567 Neuropathy, congenital hypomyelinating, 3 skos:broadMatch Orphanet:2680 semapv:UnspecifiedMatching +GARD:18567 Neuropathy, congenital hypomyelinating, 3 skos:exactMatch OMIM:618186 semapv:UnspecifiedMatching +GARD:18568 Thrombophilia due to protein s deficiency, autosomal dominant skos:broadMatch Orphanet:743 semapv:UnspecifiedMatching +GARD:18568 Thrombophilia due to protein s deficiency, autosomal dominant skos:exactMatch OMIM:612336 semapv:UnspecifiedMatching +GARD:18569 Thrombophilia due to protein s deficiency, autosomal recessive skos:broadMatch Orphanet:743 semapv:UnspecifiedMatching +GARD:18569 Thrombophilia due to protein s deficiency, autosomal recessive skos:exactMatch OMIM:614514 semapv:UnspecifiedMatching +GARD:18570 Mitochondrial complex iv deficiency, nuclear type 2 skos:broadMatch Orphanet:1561 semapv:UnspecifiedMatching +GARD:18570 Mitochondrial complex iv deficiency, nuclear type 2 skos:exactMatch OMIM:604377 semapv:UnspecifiedMatching +GARD:18571 Mitochondrial complex iv deficiency, nuclear type 6 skos:broadMatch Orphanet:1561 semapv:UnspecifiedMatching +GARD:18571 Mitochondrial complex iv deficiency, nuclear type 6 skos:exactMatch OMIM:615119 semapv:UnspecifiedMatching +GARD:18572 Mitochondrial complex iv deficiency, nuclear type 9 skos:broadMatch Orphanet:1561 semapv:UnspecifiedMatching +GARD:18572 Mitochondrial complex iv deficiency, nuclear type 9 skos:exactMatch OMIM:616500 semapv:UnspecifiedMatching +GARD:18573 Mitochondrial complex iv deficiency, nuclear type 13 skos:broadMatch Orphanet:1561 semapv:UnspecifiedMatching +GARD:18573 Mitochondrial complex iv deficiency, nuclear type 13 skos:exactMatch OMIM:616501 semapv:UnspecifiedMatching +GARD:18574 Thrombophilia due to protein c deficiency, autosomal dominant skos:broadMatch Orphanet:745 semapv:UnspecifiedMatching +GARD:18574 Thrombophilia due to protein c deficiency, autosomal dominant skos:exactMatch OMIM:176860 semapv:UnspecifiedMatching +GARD:18575 Melanoma, cutaneous malignant, susceptibility to, 2 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18575 Melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155601 semapv:UnspecifiedMatching +GARD:18576 Melanoma, malignant familial intraocular skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18576 Melanoma, malignant familial intraocular skos:exactMatch OMIM:155700 semapv:UnspecifiedMatching +GARD:18577 Melanoma, cutaneous malignant, susceptibility to, 4 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18577 Melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch OMIM:608035 semapv:UnspecifiedMatching +GARD:18578 Melanoma, cutaneous malignant, susceptibility to, 3 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18578 Melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch OMIM:609048 semapv:UnspecifiedMatching +GARD:18579 Melanoma, cutaneous malignant, susceptibility to, 5 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18579 Melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch OMIM:613099 semapv:UnspecifiedMatching +GARD:18580 Melanoma, cutaneous malignant, susceptibility to, 6 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18580 Melanoma, cutaneous malignant, susceptibility to, 6 skos:exactMatch OMIM:613972 semapv:UnspecifiedMatching +GARD:18581 Melanoma, cutaneous malignant, susceptibility to, 9 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18581 Melanoma, cutaneous malignant, susceptibility to, 9 skos:exactMatch OMIM:615134 semapv:UnspecifiedMatching +GARD:18582 Melanoma, cutaneous malignant, susceptibility to, 10 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:18582 Melanoma, cutaneous malignant, susceptibility to, 10 skos:exactMatch OMIM:615848 semapv:UnspecifiedMatching +GARD:18583 Hypercalciuria, absorptive, 2 skos:broadMatch Orphanet:2197 semapv:UnspecifiedMatching +GARD:18583 Hypercalciuria, absorptive, 2 skos:exactMatch OMIM:143870 semapv:UnspecifiedMatching +GARD:18584 Hypercalciuria, absorptive, 1 skos:broadMatch Orphanet:2197 semapv:UnspecifiedMatching +GARD:18584 Hypercalciuria, absorptive, 1 skos:exactMatch OMIM:607258 semapv:UnspecifiedMatching +GARD:18585 Congenital short bowel syndrome skos:broadMatch Orphanet:2301 semapv:UnspecifiedMatching +GARD:18585 Congenital short bowel syndrome skos:exactMatch OMIM:615237 semapv:UnspecifiedMatching +GARD:18586 Omphalocele, autosomal skos:broadMatch Orphanet:660 semapv:UnspecifiedMatching +GARD:18586 Omphalocele, autosomal skos:exactMatch OMIM:164750 semapv:UnspecifiedMatching +GARD:18587 Omphalocele, x-linked skos:broadMatch Orphanet:660 semapv:UnspecifiedMatching +GARD:18587 Omphalocele, x-linked skos:exactMatch OMIM:310980 semapv:UnspecifiedMatching +GARD:18588 Erythrokeratodermia variabilis et progressiva 2 skos:broadMatch Orphanet:317 semapv:UnspecifiedMatching +GARD:18588 Erythrokeratodermia variabilis et progressiva 2 skos:exactMatch OMIM:617524 semapv:UnspecifiedMatching +GARD:18589 Erythrokeratodermia variabilis et progressiva 3 skos:broadMatch Orphanet:317 semapv:UnspecifiedMatching +GARD:18589 Erythrokeratodermia variabilis et progressiva 3 skos:exactMatch OMIM:617525 semapv:UnspecifiedMatching +GARD:1859 Diethylstilbestrol syndrome skos:exactMatch Orphanet:1916 semapv:UnspecifiedMatching +GARD:18590 Erythrokeratodermia variabilis et progressiva 4 skos:broadMatch Orphanet:317 semapv:UnspecifiedMatching +GARD:18590 Erythrokeratodermia variabilis et progressiva 4 skos:exactMatch OMIM:617526 semapv:UnspecifiedMatching +GARD:18591 Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant skos:broadMatch Orphanet:1810 semapv:UnspecifiedMatching +GARD:18591 Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch OMIM:129490 semapv:UnspecifiedMatching +GARD:18592 Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant skos:broadMatch Orphanet:1810 semapv:UnspecifiedMatching +GARD:18592 Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant skos:exactMatch OMIM:614940 semapv:UnspecifiedMatching +GARD:18593 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:broadMatch Orphanet:1810 semapv:UnspecifiedMatching +GARD:18593 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:exactMatch OMIM:617337 semapv:UnspecifiedMatching +GARD:18594 Sarcoidosis, susceptibility to, 1 skos:broadMatch Orphanet:797 semapv:UnspecifiedMatching +GARD:18594 Sarcoidosis, susceptibility to, 1 skos:exactMatch OMIM:181000 semapv:UnspecifiedMatching +GARD:18595 Sarcoidosis, susceptibility to, 2 skos:broadMatch Orphanet:797 semapv:UnspecifiedMatching +GARD:18595 Sarcoidosis, susceptibility to, 2 skos:exactMatch OMIM:612387 semapv:UnspecifiedMatching +GARD:18596 Sarcoidosis, susceptibility to, 3 skos:broadMatch Orphanet:797 semapv:UnspecifiedMatching +GARD:18596 Sarcoidosis, susceptibility to, 3 skos:exactMatch OMIM:612388 semapv:UnspecifiedMatching +GARD:18597 Polycystic kidney disease 1 with or without polycystic liver disease skos:broadMatch Orphanet:730 semapv:UnspecifiedMatching +GARD:18597 Polycystic kidney disease 1 with or without polycystic liver disease skos:exactMatch OMIM:173900 semapv:UnspecifiedMatching +GARD:18598 Polycystic kidney disease 3 with or without polycystic liver disease skos:broadMatch Orphanet:730 semapv:UnspecifiedMatching +GARD:18598 Polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch OMIM:600666 semapv:UnspecifiedMatching +GARD:18599 Polycystic kidney disease 2 with or without polycystic liver disease skos:broadMatch Orphanet:730 semapv:UnspecifiedMatching +GARD:18599 Polycystic kidney disease 2 with or without polycystic liver disease skos:exactMatch OMIM:613095 semapv:UnspecifiedMatching +GARD:18600 Hypogonadotropic hypogonadism 10 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:18600 Hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch OMIM:614839 semapv:UnspecifiedMatching +GARD:18601 Hypogonadotropic hypogonadism 13 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:18601 Hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch OMIM:614842 semapv:UnspecifiedMatching +GARD:18602 Diabetes insipidus, neurohypophyseal skos:broadMatch Orphanet:30925 semapv:UnspecifiedMatching +GARD:18602 Diabetes insipidus, neurohypophyseal skos:exactMatch OMIM:125700 semapv:UnspecifiedMatching +GARD:18603 Diabetes insipidus, neurohypophyseal, x-linked skos:broadMatch Orphanet:30925 semapv:UnspecifiedMatching +GARD:18603 Diabetes insipidus, neurohypophyseal, x-linked skos:exactMatch OMIM:304900 semapv:UnspecifiedMatching +GARD:18604 Parkinson disease 12 skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:18604 Parkinson disease 12 skos:exactMatch OMIM:300557 semapv:UnspecifiedMatching +GARD:18605 Parkinson disease 6, autosomal recessive early-onset skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:18605 Parkinson disease 6, autosomal recessive early-onset skos:exactMatch OMIM:605909 semapv:UnspecifiedMatching +GARD:18606 Parkinson disease 7, autosomal recessive early-onset skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:18606 Parkinson disease 7, autosomal recessive early-onset skos:exactMatch OMIM:606324 semapv:UnspecifiedMatching +GARD:18607 Parkinson disease 10 skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:18607 Parkinson disease 10 skos:exactMatch OMIM:606852 semapv:UnspecifiedMatching +GARD:18608 Parkinson disease 13, autosomal dominant, susceptibility to skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:18608 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch OMIM:610297 semapv:UnspecifiedMatching +GARD:18609 Parkinson disease 5, autosomal dominant, susceptibility to skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:18609 Parkinson disease 5, autosomal dominant, susceptibility to skos:exactMatch OMIM:613643 semapv:UnspecifiedMatching +GARD:1861 Diffuse neonatal hemangiomatosis skos:exactMatch Orphanet:2123 semapv:UnspecifiedMatching +GARD:18610 Parkinson disease 23, autosomal recessive early-onset skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:18610 Parkinson disease 23, autosomal recessive early-onset skos:exactMatch OMIM:616840 semapv:UnspecifiedMatching +GARD:18611 Atrial standstill 1 skos:broadMatch Orphanet:1344 semapv:UnspecifiedMatching +GARD:18611 Atrial standstill 1 skos:exactMatch OMIM:108770 semapv:UnspecifiedMatching +GARD:18612 Atrial standstill 2 skos:broadMatch Orphanet:1344 semapv:UnspecifiedMatching +GARD:18612 Atrial standstill 2 skos:exactMatch OMIM:615745 semapv:UnspecifiedMatching +GARD:18613 Xanthomatosis, susceptibility to skos:broadMatch Orphanet:391665 semapv:UnspecifiedMatching +GARD:18613 Xanthomatosis, susceptibility to skos:exactMatch OMIM:602247 semapv:UnspecifiedMatching +GARD:18614 Hypercholesterolemia, familial, 4 skos:broadMatch Orphanet:391665 semapv:UnspecifiedMatching +GARD:18614 Hypercholesterolemia, familial, 4 skos:exactMatch OMIM:603813 semapv:UnspecifiedMatching +GARD:18615 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation skos:exactMatch Orphanet:300751 semapv:UnspecifiedMatching +GARD:18615 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation skos:narrowMatch OMIM:115200 semapv:UnspecifiedMatching +GARD:18616 Dystonia 11, myoclonic skos:broadMatch Orphanet:36899 semapv:UnspecifiedMatching +GARD:18616 Dystonia 11, myoclonic skos:exactMatch OMIM:159900 semapv:UnspecifiedMatching +GARD:18617 Developmental and epileptic encephalopathy 2 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:18617 Developmental and epileptic encephalopathy 2 skos:broadMatch Orphanet:3095 semapv:UnspecifiedMatching +GARD:18617 Developmental and epileptic encephalopathy 2 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:18617 Developmental and epileptic encephalopathy 2 skos:exactMatch OMIM:300672 semapv:UnspecifiedMatching +GARD:18619 Amyotrophic lateral sclerosis 21 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:18619 Amyotrophic lateral sclerosis 21 skos:exactMatch OMIM:606070 semapv:UnspecifiedMatching +GARD:1862 Non-epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 semapv:UnspecifiedMatching +GARD:1862 Non-epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:600231 semapv:UnspecifiedMatching +GARD:18620 Pigmented nodular adrenocortical disease, primary, 1 skos:broadMatch Orphanet:189439 semapv:UnspecifiedMatching +GARD:18620 Pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch OMIM:610489 semapv:UnspecifiedMatching +GARD:18621 Cholestasis, progressive familial intrahepatic, 4 skos:broadMatch Orphanet:79304 semapv:UnspecifiedMatching +GARD:18621 Cholestasis, progressive familial intrahepatic, 4 skos:exactMatch OMIM:615878 semapv:UnspecifiedMatching +GARD:18622 Congenital contractures of the limbs and face, hypotonia, and developmental delay skos:broadMatch Orphanet:1147 semapv:UnspecifiedMatching +GARD:18622 Congenital contractures of the limbs and face, hypotonia, and developmental delay skos:broadMatch Orphanet:2053 semapv:UnspecifiedMatching +GARD:18622 Congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch OMIM:616266 semapv:UnspecifiedMatching +GARD:18623 Intellectual developmental disorder, autosomal dominant 1 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +GARD:18623 Intellectual developmental disorder, autosomal dominant 1 skos:exactMatch OMIM:156200 semapv:UnspecifiedMatching +GARD:18624 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism skos:broadMatch Orphanet:88637 semapv:UnspecifiedMatching +GARD:18624 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch OMIM:614381 semapv:UnspecifiedMatching +GARD:18625 Nanophthalmos 1 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +GARD:18625 Nanophthalmos 1 skos:exactMatch OMIM:600165 semapv:UnspecifiedMatching +GARD:18626 Nanophthalmos 2 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +GARD:18626 Nanophthalmos 2 skos:exactMatch OMIM:609549 semapv:UnspecifiedMatching +GARD:18627 Nanophthalmos 3 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +GARD:18627 Nanophthalmos 3 skos:exactMatch OMIM:611897 semapv:UnspecifiedMatching +GARD:18628 Microphthalmia, isolated 6 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +GARD:18628 Microphthalmia, isolated 6 skos:exactMatch OMIM:613517 semapv:UnspecifiedMatching +GARD:18629 Nanophthalmos 4 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +GARD:18629 Nanophthalmos 4 skos:exactMatch OMIM:615972 semapv:UnspecifiedMatching +GARD:18630 Factor v and factor viii, combined deficiency of, 1 skos:broadMatch Orphanet:35909 semapv:UnspecifiedMatching +GARD:18630 Factor v and factor viii, combined deficiency of, 1 skos:exactMatch OMIM:227300 semapv:UnspecifiedMatching +GARD:18631 Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor skos:broadMatch Orphanet:35909 semapv:UnspecifiedMatching +GARD:18631 Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor skos:exactMatch OMIM:227310 semapv:UnspecifiedMatching +GARD:18632 Factor v and factor viii, combined deficiency of, 2 skos:broadMatch Orphanet:35909 semapv:UnspecifiedMatching +GARD:18632 Factor v and factor viii, combined deficiency of, 2 skos:exactMatch OMIM:613625 semapv:UnspecifiedMatching +GARD:18633 Short qt syndrome 1 skos:broadMatch Orphanet:51083 semapv:UnspecifiedMatching +GARD:18633 Short qt syndrome 1 skos:exactMatch OMIM:609620 semapv:UnspecifiedMatching +GARD:18634 Short qt syndrome 2 skos:broadMatch Orphanet:51083 semapv:UnspecifiedMatching +GARD:18634 Short qt syndrome 2 skos:exactMatch OMIM:609621 semapv:UnspecifiedMatching +GARD:18635 Short qt syndrome 3 skos:broadMatch Orphanet:51083 semapv:UnspecifiedMatching +GARD:18635 Short qt syndrome 3 skos:exactMatch OMIM:609622 semapv:UnspecifiedMatching +GARD:18636 Vitamin d hydroxylation-deficient rickets, type 1a skos:broadMatch Orphanet:289157 semapv:UnspecifiedMatching +GARD:18636 Vitamin d hydroxylation-deficient rickets, type 1a skos:exactMatch OMIM:264700 semapv:UnspecifiedMatching +GARD:18637 Amyloidosis, primary localized cutaneous, 1 skos:broadMatch Orphanet:353220 semapv:UnspecifiedMatching +GARD:18637 Amyloidosis, primary localized cutaneous, 1 skos:exactMatch OMIM:105250 semapv:UnspecifiedMatching +GARD:18638 Amyloidosis, primary localized cutaneous, 2 skos:broadMatch Orphanet:353220 semapv:UnspecifiedMatching +GARD:18638 Amyloidosis, primary localized cutaneous, 2 skos:exactMatch OMIM:613955 semapv:UnspecifiedMatching +GARD:18639 Progressive symmetric erythrokeratodermia skos:exactMatch Orphanet:316 semapv:UnspecifiedMatching +GARD:18639 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:617756 semapv:UnspecifiedMatching +GARD:18639 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:618531 semapv:UnspecifiedMatching +GARD:18639 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:619209 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300046 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300047 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300062 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300115 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300143 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300210 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300271 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300324 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300355 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300372 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300387 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300419 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300428 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300433 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300436 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300454 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300498 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300505 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300518 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300558 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300705 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300716 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300802 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300803 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300844 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300848 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300849 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300850 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300851 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300852 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300919 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300928 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300978 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300983 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300984 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:301013 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:309530 semapv:UnspecifiedMatching +GARD:18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:309549 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:604233 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:604403 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:609800 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:612279 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:613060 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:613828 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:613863 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:616172 semapv:UnspecifiedMatching +GARD:18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:618482 semapv:UnspecifiedMatching +GARD:18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:exactMatch Orphanet:46532 semapv:UnspecifiedMatching +GARD:18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:141749 semapv:UnspecifiedMatching +GARD:18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:142335 semapv:UnspecifiedMatching +GARD:18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:142470 semapv:UnspecifiedMatching +GARD:18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:305435 semapv:UnspecifiedMatching +GARD:18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:613566 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:249500 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:607417 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:608443 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611090 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611091 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611092 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611093 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611095 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611096 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611097 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611107 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:613192 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614020 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614202 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614208 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614249 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614329 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614333 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614340 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614341 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614342 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614343 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614344 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614345 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614346 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614347 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614499 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:615802 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:615817 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:615942 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:615979 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616116 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616193 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616460 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616739 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616887 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617028 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617125 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617188 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617709 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617816 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:618109 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:618221 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:618402 semapv:UnspecifiedMatching +GARD:18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:618687 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:220290 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600060 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600316 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600791 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600792 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600971 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600974 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:601071 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:601072 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:601386 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:601869 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:602092 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603010 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603098 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603629 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603678 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603720 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:604060 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:605428 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:605818 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607039 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607084 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607101 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607239 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607821 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608219 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608264 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608265 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608565 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608653 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609006 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609439 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609533 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609646 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609647 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609706 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609823 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609941 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609946 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609952 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610143 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610153 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610154 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610212 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610220 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610248 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610265 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610419 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:611022 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:611451 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:612433 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:612645 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:612789 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613079 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613285 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613307 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613391 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613392 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613453 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613685 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613718 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613865 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613916 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614035 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614414 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614617 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614861 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614899 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614934 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614944 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614945 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:615429 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:615540 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:615837 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:615974 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:616042 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:616515 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:616705 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:617637 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:617639 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:617654 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618145 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618257 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618410 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618422 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618434 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618456 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618481 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:619093 semapv:UnspecifiedMatching +GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:619174 semapv:UnspecifiedMatching +GARD:18645 Juvenile nephronophthisis skos:exactMatch Orphanet:93592 semapv:UnspecifiedMatching +GARD:18645 Juvenile nephronophthisis skos:narrowMatch OMIM:256100 semapv:UnspecifiedMatching +GARD:18645 Juvenile nephronophthisis skos:narrowMatch OMIM:615382 semapv:UnspecifiedMatching +GARD:18646 Overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch Orphanet:137634 semapv:UnspecifiedMatching +GARD:18646 Overgrowth-macrocephaly-facial dysmorphism syndrome skos:narrowMatch OMIM:613675 semapv:UnspecifiedMatching +GARD:18647 Hereditary persistence of alpha-fetoprotein skos:exactMatch Orphanet:168615 semapv:UnspecifiedMatching +GARD:18647 Hereditary persistence of alpha-fetoprotein skos:narrowMatch OMIM:615970 semapv:UnspecifiedMatching +GARD:18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:exactMatch Orphanet:251380 semapv:UnspecifiedMatching +GARD:18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:141749 semapv:UnspecifiedMatching +GARD:18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:142335 semapv:UnspecifiedMatching +GARD:18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:142470 semapv:UnspecifiedMatching +GARD:18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:305435 semapv:UnspecifiedMatching +GARD:18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:613566 semapv:UnspecifiedMatching +GARD:18649 Isolated ATP synthase deficiency skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching +GARD:18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:604273 semapv:UnspecifiedMatching +GARD:18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:614053 semapv:UnspecifiedMatching +GARD:18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:615228 semapv:UnspecifiedMatching +GARD:18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:618120 semapv:UnspecifiedMatching +GARD:18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:618683 semapv:UnspecifiedMatching +GARD:18650 Autosomal recessive nail dysplasia skos:exactMatch Orphanet:280654 semapv:UnspecifiedMatching +GARD:18650 Autosomal recessive nail dysplasia skos:narrowMatch OMIM:161050 semapv:UnspecifiedMatching +GARD:18651 Familial benign flecked retina skos:exactMatch Orphanet:363989 semapv:UnspecifiedMatching +GARD:18651 Familial benign flecked retina skos:narrowMatch OMIM:228980 semapv:UnspecifiedMatching +GARD:18652 Isolated sedoheptulokinase deficiency skos:exactMatch Orphanet:440713 semapv:UnspecifiedMatching +GARD:18652 Isolated sedoheptulokinase deficiency skos:narrowMatch OMIM:617213 semapv:UnspecifiedMatching +GARD:18653 DNAJB2-related Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:443950 semapv:UnspecifiedMatching +GARD:18653 DNAJB2-related Charcot-Marie-Tooth disease type 2 skos:narrowMatch OMIM:614881 semapv:UnspecifiedMatching +GARD:18654 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome skos:exactMatch Orphanet:444069 semapv:UnspecifiedMatching +GARD:18654 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome skos:narrowMatch OMIM:243605 semapv:UnspecifiedMatching +GARD:18655 Microcephaly-short stature-limb abnormalities syndrome skos:exactMatch Orphanet:572773 semapv:UnspecifiedMatching +GARD:18656 Fetal hemoglobin quantitative trait locus 1 skos:broadMatch Orphanet:251380 semapv:UnspecifiedMatching +GARD:18656 Fetal hemoglobin quantitative trait locus 1 skos:broadMatch Orphanet:46532 semapv:UnspecifiedMatching +GARD:18656 Fetal hemoglobin quantitative trait locus 1 skos:exactMatch OMIM:141749 semapv:UnspecifiedMatching +GARD:18657 Fetal hemoglobin quantitative trait locus 2 skos:broadMatch Orphanet:251380 semapv:UnspecifiedMatching +GARD:18657 Fetal hemoglobin quantitative trait locus 2 skos:broadMatch Orphanet:46532 semapv:UnspecifiedMatching +GARD:18657 Fetal hemoglobin quantitative trait locus 2 skos:exactMatch OMIM:142470 semapv:UnspecifiedMatching +GARD:18658 Fetal hemoglobin quantitative trait locus 3 skos:broadMatch Orphanet:251380 semapv:UnspecifiedMatching +GARD:18658 Fetal hemoglobin quantitative trait locus 3 skos:broadMatch Orphanet:46532 semapv:UnspecifiedMatching +GARD:18658 Fetal hemoglobin quantitative trait locus 3 skos:exactMatch OMIM:305435 semapv:UnspecifiedMatching +GARD:18659 Generalized epilepsy with febrile seizures plus, type 1 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18659 Generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch OMIM:604233 semapv:UnspecifiedMatching +GARD:18660 Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +GARD:18660 Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 skos:exactMatch OMIM:604273 semapv:UnspecifiedMatching +GARD:18661 Generalized epilepsy with febrile seizures plus, type 2 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18661 Generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch OMIM:604403 semapv:UnspecifiedMatching +GARD:18662 Generalized epilepsy with febrile seizures plus, type 4 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18662 Generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch OMIM:609800 semapv:UnspecifiedMatching +GARD:18663 Generalized epilepsy with febrile seizures plus, type 6 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18663 Generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch OMIM:612279 semapv:UnspecifiedMatching +GARD:18664 Generalized epilepsy with febrile seizures plus, type 8 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18664 Generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch OMIM:613828 semapv:UnspecifiedMatching +GARD:18665 Generalized epilepsy with febrile seizures plus, type 7 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18665 Generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch OMIM:613863 semapv:UnspecifiedMatching +GARD:18666 Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +GARD:18666 Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 skos:exactMatch OMIM:614053 semapv:UnspecifiedMatching +GARD:18667 Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +GARD:18667 Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 skos:exactMatch OMIM:615228 semapv:UnspecifiedMatching +GARD:18668 Generalized epilepsy with febrile seizures plus, type 9 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18668 Generalized epilepsy with febrile seizures plus, type 9 skos:exactMatch OMIM:616172 semapv:UnspecifiedMatching +GARD:18669 Erythrokeratodermia variabilis et progressiva 5 skos:broadMatch Orphanet:316 semapv:UnspecifiedMatching +GARD:18669 Erythrokeratodermia variabilis et progressiva 5 skos:exactMatch OMIM:617756 semapv:UnspecifiedMatching +GARD:18670 Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +GARD:18670 Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 skos:exactMatch OMIM:618120 semapv:UnspecifiedMatching +GARD:18671 Generalized epilepsy with febrile seizures plus, type 10 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +GARD:18671 Generalized epilepsy with febrile seizures plus, type 10 skos:exactMatch OMIM:618482 semapv:UnspecifiedMatching +GARD:18672 Erythrokeratodermia variabilis et progressiva 6 skos:broadMatch Orphanet:316 semapv:UnspecifiedMatching +GARD:18672 Erythrokeratodermia variabilis et progressiva 6 skos:exactMatch OMIM:618531 semapv:UnspecifiedMatching +GARD:18673 Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +GARD:18673 Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 skos:exactMatch OMIM:618683 semapv:UnspecifiedMatching +GARD:18674 Erythrokeratodermia variabilis et progressiva 7 skos:broadMatch Orphanet:316 semapv:UnspecifiedMatching +GARD:18674 Erythrokeratodermia variabilis et progressiva 7 skos:exactMatch OMIM:619209 semapv:UnspecifiedMatching +GARD:18675 Amoebiasis due to Entamoeba histolytica skos:exactMatch Orphanet:67 semapv:UnspecifiedMatching +GARD:18676 Amyloidosis skos:exactMatch Orphanet:69 semapv:UnspecifiedMatching +GARD:18677 Juvenile idiopathic arthritis skos:exactMatch Orphanet:92 semapv:UnspecifiedMatching +GARD:18678 Atresia of urethra skos:exactMatch Orphanet:105 semapv:UnspecifiedMatching +GARD:18679 Non-rhizomelic chondrodysplasia punctata skos:exactMatch Orphanet:176 semapv:UnspecifiedMatching +GARD:18680 Scimitar syndrome skos:exactMatch Orphanet:185 semapv:UnspecifiedMatching +GARD:18681 Isolated corpus callosum agenesis skos:exactMatch Orphanet:200 semapv:UnspecifiedMatching +GARD:18682 Neonatal diabetes mellitus skos:exactMatch Orphanet:224 semapv:UnspecifiedMatching +GARD:18683 Trisomy 9p skos:exactMatch Orphanet:236 semapv:UnspecifiedMatching +GARD:18684 Digestive duplication skos:exactMatch Orphanet:238 semapv:UnspecifiedMatching +GARD:18685 Spondylometaphyseal dysplasia skos:exactMatch Orphanet:254 semapv:UnspecifiedMatching +GARD:18686 Duchenne and Becker muscular dystrophy skos:exactMatch Orphanet:262 semapv:UnspecifiedMatching +GARD:18687 Congenital herpes simplex virus infection skos:exactMatch Orphanet:293 semapv:UnspecifiedMatching +GARD:18688 Reflex epilepsy skos:exactMatch Orphanet:310 semapv:UnspecifiedMatching +GARD:18689 Hemorrhagic fever-renal syndrome skos:exactMatch Orphanet:340 semapv:UnspecifiedMatching +GARD:18690 Arbovirus fever skos:exactMatch Orphanet:344 semapv:UnspecifiedMatching +GARD:18691 Glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch Orphanet:370 semapv:UnspecifiedMatching +GARD:18692 Histoplasmosis skos:exactMatch Orphanet:390 semapv:UnspecifiedMatching +GARD:18693 Familial keratoacanthoma skos:exactMatch Orphanet:493 semapv:UnspecifiedMatching +GARD:18694 Keratosis pilaris atrophicans skos:exactMatch Orphanet:498 semapv:UnspecifiedMatching +GARD:18695 Systemic lupus erythematosus skos:exactMatch Orphanet:536 semapv:UnspecifiedMatching +GARD:18696 Toxic epidermal necrolysis skos:exactMatch Orphanet:537 semapv:UnspecifiedMatching +GARD:18697 Primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch Orphanet:541 semapv:UnspecifiedMatching +GARD:18698 Primary cutaneous lymphoma skos:exactMatch Orphanet:542 semapv:UnspecifiedMatching +GARD:18699 Distal myopathy skos:exactMatch Orphanet:599 semapv:UnspecifiedMatching +GARD:18700 Congenital primary megaureter skos:exactMatch Orphanet:617 semapv:UnspecifiedMatching +GARD:18701 Non-histaminic angioedema skos:exactMatch Orphanet:658 semapv:UnspecifiedMatching +GARD:18702 Plague skos:exactMatch Orphanet:707 semapv:UnspecifiedMatching +GARD:18703 Pili bifurcati skos:exactMatch Orphanet:720 semapv:UnspecifiedMatching +GARD:18704 Rare form of salmonellosis skos:exactMatch Orphanet:795 semapv:UnspecifiedMatching +GARD:18705 Scleroderma skos:exactMatch Orphanet:801 semapv:UnspecifiedMatching +GARD:18706 Congenital cervical spinal stenosis skos:exactMatch Orphanet:831 semapv:UnspecifiedMatching +GARD:18707 Primitive portal vein thrombosis skos:exactMatch Orphanet:854 semapv:UnspecifiedMatching +GARD:18708 Congenital toxoplasmosis skos:exactMatch Orphanet:858 semapv:UnspecifiedMatching +GARD:18709 Primary adult heart tumor skos:exactMatch Orphanet:874 semapv:UnspecifiedMatching +GARD:18710 Primary pediatric heart tumor skos:exactMatch Orphanet:875 semapv:UnspecifiedMatching +GARD:18711 Extragonadal teratoma skos:exactMatch Orphanet:883 semapv:UnspecifiedMatching +GARD:18712 Absence of the pulmonary artery skos:exactMatch Orphanet:980 semapv:UnspecifiedMatching +GARD:18713 Alopecia antibody deficiency skos:exactMatch Orphanet:1006 semapv:UnspecifiedMatching +GARD:18714 Sideroblastic anemia skos:exactMatch Orphanet:1047 semapv:UnspecifiedMatching +GARD:18715 Isolated lissencephaly type 1 without known genetic defects skos:exactMatch Orphanet:1084 semapv:UnspecifiedMatching +GARD:18716 Radial deficiency-tibial hypoplasia syndrome skos:exactMatch Orphanet:1121 semapv:UnspecifiedMatching +GARD:18717 Abnormal origin of the pulmonary artery skos:exactMatch Orphanet:1138 semapv:UnspecifiedMatching +GARD:18718 Autosomal recessive cerebellar ataxia skos:exactMatch Orphanet:1172 semapv:UnspecifiedMatching +GARD:18719 Mitochondrial DNA-related cardiomyopathy and hearing loss skos:exactMatch Orphanet:1349 semapv:UnspecifiedMatching +GARD:1872 Diphallia skos:exactMatch Orphanet:227 semapv:UnspecifiedMatching +GARD:18720 Isolated cerebellar agenesis skos:exactMatch Orphanet:1398 semapv:UnspecifiedMatching +GARD:18721 Paroxysmal dyskinesia skos:exactMatch Orphanet:1431 semapv:UnspecifiedMatching +GARD:18722 Autosomal dominant coarctation of aorta skos:exactMatch Orphanet:1455 semapv:UnspecifiedMatching +GARD:18723 Atypical coarctation of aorta skos:exactMatch Orphanet:1456 semapv:UnspecifiedMatching +GARD:18724 Criss-cross heart skos:exactMatch Orphanet:1461 semapv:UnspecifiedMatching +GARD:18725 Univentricular heart skos:exactMatch Orphanet:1464 semapv:UnspecifiedMatching +GARD:18726 Short rib-polydactyly syndrome skos:exactMatch Orphanet:1505 semapv:UnspecifiedMatching +GARD:18727 Thin ribs-tubular bones-dysmorphism syndrome skos:exactMatch Orphanet:1506 semapv:UnspecifiedMatching +GARD:18728 Benign focal seizures of adolescence skos:exactMatch Orphanet:1544 semapv:UnspecifiedMatching +GARD:18729 Non-distal monosomy 10q skos:exactMatch Orphanet:1581 semapv:UnspecifiedMatching +GARD:18730 Deletion 5q35 skos:exactMatch Orphanet:1627 semapv:UnspecifiedMatching +GARD:18731 Distal monosomy 7q36 skos:exactMatch Orphanet:1636 semapv:UnspecifiedMatching +GARD:18732 Distal monosomy 9p skos:exactMatch Orphanet:1642 semapv:UnspecifiedMatching +GARD:18733 Xp22.3 microdeletion syndrome skos:exactMatch Orphanet:1643 semapv:UnspecifiedMatching +GARD:18734 Sporadic fetal brain disruption sequence skos:exactMatch Orphanet:1665 semapv:UnspecifiedMatching +GARD:18735 Familial idiopathic dilatation of the right atrium skos:exactMatch Orphanet:1677 semapv:UnspecifiedMatching +GARD:18736 Mosaic trisomy 1 skos:exactMatch Orphanet:1692 semapv:UnspecifiedMatching +GARD:18737 Non-distal trisomy 10q skos:exactMatch Orphanet:1695 semapv:UnspecifiedMatching +GARD:18738 Non-distal trisomy 13q skos:exactMatch Orphanet:1702 semapv:UnspecifiedMatching +GARD:18739 Distal trisomy 14q skos:exactMatch Orphanet:1705 semapv:UnspecifiedMatching +GARD:1874 Hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch Orphanet:714 semapv:UnspecifiedMatching +GARD:1874 Hemolytic anemia due to diphosphoglycerate mutase deficiency skos:narrowMatch OMIM:222800 semapv:UnspecifiedMatching +GARD:18740 Distal trisomy 15q skos:exactMatch Orphanet:1707 semapv:UnspecifiedMatching +GARD:18741 Mosaic trisomy 16 skos:exactMatch Orphanet:1708 semapv:UnspecifiedMatching +GARD:18742 Distal trisomy 18q skos:exactMatch Orphanet:1716 semapv:UnspecifiedMatching +GARD:18743 Distal trisomy 19q skos:exactMatch Orphanet:1717 semapv:UnspecifiedMatching +GARD:18744 Mosaic trisomy 20 skos:exactMatch Orphanet:1724 semapv:UnspecifiedMatching +GARD:18745 Distal trisomy 6p skos:exactMatch Orphanet:1745 semapv:UnspecifiedMatching +GARD:18746 Fibular dimelia-diplopodia syndrome skos:exactMatch Orphanet:1757 semapv:UnspecifiedMatching +GARD:18747 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch Orphanet:1772 semapv:UnspecifiedMatching +GARD:18748 Multicystic dysplastic kidney skos:exactMatch Orphanet:1851 semapv:UnspecifiedMatching +GARD:18749 Focal, segmental or multifocal dystonia skos:exactMatch Orphanet:1866 semapv:UnspecifiedMatching +GARD:1875 Diphtheria skos:exactMatch Orphanet:1679 semapv:UnspecifiedMatching +GARD:18750 Fetal trimethadione syndrome skos:exactMatch Orphanet:1913 semapv:UnspecifiedMatching +GARD:18751 Toluene embryopathy skos:exactMatch Orphanet:1920 semapv:UnspecifiedMatching +GARD:18752 Rasmussen subacute encephalitis skos:exactMatch Orphanet:1929 semapv:UnspecifiedMatching +GARD:18753 Frontal encephalocele skos:exactMatch Orphanet:1931 semapv:UnspecifiedMatching +GARD:18754 Cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 semapv:UnspecifiedMatching +GARD:18755 Cleft lip/palate-deafness-sacral lipoma syndrome skos:exactMatch Orphanet:2003 semapv:UnspecifiedMatching +GARD:18756 Median cleft lip/mandibule skos:exactMatch Orphanet:2006 semapv:UnspecifiedMatching +GARD:18757 Filariasis skos:exactMatch Orphanet:2034 semapv:UnspecifiedMatching +GARD:18758 Congenital systemic arteriovenous fistula skos:exactMatch Orphanet:2039 semapv:UnspecifiedMatching +GARD:18759 Progressive non-infectious anterior vertebral fusion skos:exactMatch Orphanet:2062 semapv:UnspecifiedMatching +GARD:1876 Diprosopus skos:exactMatch Orphanet:1681 semapv:UnspecifiedMatching +GARD:18760 Dysmorphism-pectus carinatum-joint laxity syndrome skos:exactMatch Orphanet:2104 semapv:UnspecifiedMatching +GARD:18761 Hemimelia skos:exactMatch Orphanet:2130 semapv:UnspecifiedMatching +GARD:18762 Craniosynostosis, Herrmann-Opitz type skos:exactMatch Orphanet:2145 semapv:UnspecifiedMatching +GARD:18763 Hypotrichosis-intellectual disability, Lopes type skos:exactMatch Orphanet:2266 semapv:UnspecifiedMatching +GARD:18764 Dysmorphism-short stature-deafness-disorder of sex development syndrome skos:exactMatch Orphanet:2282 semapv:UnspecifiedMatching +GARD:18765 Isotretinoin syndrome skos:exactMatch Orphanet:2305 semapv:UnspecifiedMatching +GARD:18766 Epidermolysis bullosa simplex with anodontia/hypodontia skos:exactMatch Orphanet:2325 semapv:UnspecifiedMatching +GARD:18767 Kallmann syndrome-heart disease syndrome skos:exactMatch Orphanet:2326 semapv:UnspecifiedMatching +GARD:18768 Isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 semapv:UnspecifiedMatching +GARD:18769 Congenital primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:2416 semapv:UnspecifiedMatching +GARD:18770 Primary pulmonary lymphoma skos:exactMatch Orphanet:2420 semapv:UnspecifiedMatching +GARD:18771 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 semapv:UnspecifiedMatching +GARD:18772 Congenital pulmonary airway malformation skos:exactMatch Orphanet:2444 semapv:UnspecifiedMatching +GARD:18773 Lower limb malformation-hypospadias syndrome skos:exactMatch Orphanet:2487 semapv:UnspecifiedMatching +GARD:18774 Microcephaly-seizures-intellectual disability-heart disease syndrome skos:exactMatch Orphanet:2519 semapv:UnspecifiedMatching +GARD:18775 Myalgia-eosinophilia syndrome associated with tryptophan skos:exactMatch Orphanet:2582 semapv:UnspecifiedMatching +GARD:18776 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:exactMatch Orphanet:2653 semapv:UnspecifiedMatching +GARD:18777 Adult familial nephronophthisis-spastic quadriparesia syndrome skos:exactMatch Orphanet:2666 semapv:UnspecifiedMatching +GARD:18778 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:exactMatch Orphanet:2787 semapv:UnspecifiedMatching +GARD:18779 Congenital pericardium anomaly skos:exactMatch Orphanet:2846 semapv:UnspecifiedMatching +GARD:18780 Pericardial and diaphragmatic defect skos:exactMatch Orphanet:2847 semapv:UnspecifiedMatching +GARD:18781 Hereditary acrokeratotic poikiloderma skos:exactMatch Orphanet:2907 semapv:UnspecifiedMatching +GARD:18782 46,XX disorder of sex development-anorectal anomalies syndrome skos:exactMatch Orphanet:2973 semapv:UnspecifiedMatching +GARD:18783 46,XX disorder of sex development skos:exactMatch Orphanet:2982 semapv:UnspecifiedMatching +GARD:18784 Mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:exactMatch Orphanet:3004 semapv:UnspecifiedMatching +GARD:18785 Congenital systemic veins anomaly skos:exactMatch Orphanet:3091 semapv:UnspecifiedMatching +GARD:18786 Congenital aortic valve stenosis skos:exactMatch Orphanet:3093 semapv:UnspecifiedMatching +GARD:18787 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:exactMatch Orphanet:3151 semapv:UnspecifiedMatching +GARD:18788 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:exactMatch Orphanet:3225 semapv:UnspecifiedMatching +GARD:18789 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:exactMatch Orphanet:3240 semapv:UnspecifiedMatching +GARD:18790 Disorder of plasmalogens biosynthesis skos:exactMatch Orphanet:3276 semapv:UnspecifiedMatching +GARD:18791 Telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:exactMatch Orphanet:3293 semapv:UnspecifiedMatching +GARD:18792 Tetrasomy 5p skos:exactMatch Orphanet:3309 semapv:UnspecifiedMatching +GARD:18793 Toxocariasis skos:exactMatch Orphanet:3343 semapv:UnspecifiedMatching +GARD:18794 Distal trisomy 17q skos:exactMatch Orphanet:3379 semapv:UnspecifiedMatching +GARD:18795 American trypanosomiasis skos:exactMatch Orphanet:3386 semapv:UnspecifiedMatching +GARD:18796 Neural tube defect skos:exactMatch Orphanet:3388 semapv:UnspecifiedMatching +GARD:18797 Germ cell tumor skos:exactMatch Orphanet:3399 semapv:UnspecifiedMatching +GARD:18798 Aorto-ventricular tunnel skos:exactMatch Orphanet:3400 semapv:UnspecifiedMatching +GARD:18799 Protein S acquired deficiency skos:exactMatch Orphanet:26349 semapv:UnspecifiedMatching +GARD:18800 Oral erosive lichen skos:exactMatch Orphanet:31142 semapv:UnspecifiedMatching +GARD:18801 Hypoalphalipoproteinemia skos:exactMatch Orphanet:31153 semapv:UnspecifiedMatching +GARD:18802 Hypobetalipoproteinemia skos:exactMatch Orphanet:31154 semapv:UnspecifiedMatching +GARD:18803 Colchicine poisoning skos:exactMatch Orphanet:31824 semapv:UnspecifiedMatching +GARD:18804 Methanol poisoning skos:exactMatch Orphanet:31825 semapv:UnspecifiedMatching +GARD:18805 Ethylene glycol poisoning skos:exactMatch Orphanet:31826 semapv:UnspecifiedMatching +GARD:18806 Paraquat poisoning skos:exactMatch Orphanet:31827 semapv:UnspecifiedMatching +GARD:18807 Digitalis poisoning skos:exactMatch Orphanet:31828 semapv:UnspecifiedMatching +GARD:18808 Bullous lichen planus skos:exactMatch Orphanet:33408 semapv:UnspecifiedMatching +GARD:18809 Meningococcal meningitis skos:exactMatch Orphanet:33475 semapv:UnspecifiedMatching +GARD:18810 Corneal dystrophy skos:exactMatch Orphanet:34533 semapv:UnspecifiedMatching +GARD:18811 Severe disseminated cytomegalovirus infection in immunocompetent patients skos:exactMatch Orphanet:35062 semapv:UnspecifiedMatching +GARD:18812 Fulminant viral hepatitis skos:exactMatch Orphanet:35063 semapv:UnspecifiedMatching +GARD:18813 Epidermal nevus syndrome skos:exactMatch Orphanet:35125 semapv:UnspecifiedMatching +GARD:18814 Mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 semapv:UnspecifiedMatching +GARD:18815 Neurometabolic disorder due to serine deficiency skos:exactMatch Orphanet:35705 semapv:UnspecifiedMatching +GARD:18816 Malignant sex cord stromal tumor of ovary skos:exactMatch Orphanet:35808 semapv:UnspecifiedMatching +GARD:18817 Acute opioid poisoning skos:exactMatch Orphanet:35889 semapv:UnspecifiedMatching +GARD:18818 Polymicrogyria skos:exactMatch Orphanet:35981 semapv:UnspecifiedMatching +GARD:18819 Staphylococcal scarlet fever skos:exactMatch Orphanet:36235 semapv:UnspecifiedMatching +GARD:18820 Bullous impetigo skos:exactMatch Orphanet:36237 semapv:UnspecifiedMatching +GARD:18821 Staphylococcal necrotizing pneumonia skos:exactMatch Orphanet:36238 semapv:UnspecifiedMatching +GARD:18822 Gastric linitis plastica skos:exactMatch Orphanet:36273 semapv:UnspecifiedMatching +GARD:18823 Familial cervical artery dissection skos:exactMatch Orphanet:36382 semapv:UnspecifiedMatching +GARD:18824 Autoimmune hypoparathyroidism skos:exactMatch Orphanet:36913 semapv:UnspecifiedMatching +GARD:18825 Interstitial cystitis skos:exactMatch Orphanet:37202 semapv:UnspecifiedMatching +GARD:18826 Acquired kinky hair syndrome skos:exactMatch Orphanet:37559 semapv:UnspecifiedMatching +GARD:18827 Acitretin/etretinate embryopathy skos:exactMatch Orphanet:40366 semapv:UnspecifiedMatching +GARD:18828 Serotonin syndrome skos:exactMatch Orphanet:43116 semapv:UnspecifiedMatching +GARD:18829 Acute tricyclic antidepressant poisoning skos:exactMatch Orphanet:43117 semapv:UnspecifiedMatching +GARD:1883 Dissecting cellulitis of the scalp skos:exactMatch Orphanet:345 semapv:UnspecifiedMatching +GARD:1883 Dissecting cellulitis of the scalp skos:narrowMatch OMIM:260910 semapv:UnspecifiedMatching +GARD:18830 Acute poisoning by drugs with membrane-stabilizing effect skos:exactMatch Orphanet:43119 semapv:UnspecifiedMatching +GARD:18831 Idiopathic neonatal atrial flutter skos:exactMatch Orphanet:45452 semapv:UnspecifiedMatching +GARD:18832 Incessant infant ventricular tachycardia skos:exactMatch Orphanet:45453 semapv:UnspecifiedMatching +GARD:18833 Superficial pemphigus skos:exactMatch Orphanet:46485 semapv:UnspecifiedMatching +GARD:18834 Linear IgA dermatosis skos:exactMatch Orphanet:46488 semapv:UnspecifiedMatching +GARD:18835 Postinfectious vasculitis skos:exactMatch Orphanet:48435 semapv:UnspecifiedMatching +GARD:18836 Embryonal carcinoma of the central nervous system skos:exactMatch Orphanet:48736 semapv:UnspecifiedMatching +GARD:18837 Focal myositis skos:exactMatch Orphanet:48918 semapv:UnspecifiedMatching +GARD:18838 Acquired purpura fulminans skos:exactMatch Orphanet:49566 semapv:UnspecifiedMatching +GARD:18839 Lichen amyloidosis skos:exactMatch Orphanet:49804 semapv:UnspecifiedMatching +GARD:18840 Microlissencephaly-micromelia syndrome skos:exactMatch Orphanet:50810 semapv:UnspecifiedMatching +GARD:18841 Zellweger-like syndrome without peroxisomal anomalies skos:exactMatch Orphanet:50812 semapv:UnspecifiedMatching +GARD:18842 Duane anomaly-myopathy-scoliosis syndrome skos:exactMatch Orphanet:50817 semapv:UnspecifiedMatching +GARD:18843 Anterior cutaneous nerve entrapment syndrome skos:exactMatch Orphanet:51890 semapv:UnspecifiedMatching +GARD:18844 Vasculitis skos:exactMatch Orphanet:52759 semapv:UnspecifiedMatching +GARD:18845 Orbital leiomyoma skos:exactMatch Orphanet:52994 semapv:UnspecifiedMatching +GARD:18846 Posterior cortical atrophy skos:exactMatch Orphanet:54247 semapv:UnspecifiedMatching +GARD:18847 Hepatocellular adenoma skos:exactMatch Orphanet:54272 semapv:UnspecifiedMatching +GARD:18848 Sarcocystosis skos:exactMatch Orphanet:54368 semapv:UnspecifiedMatching +GARD:18849 Pneumococcal meningitis skos:exactMatch Orphanet:55655 semapv:UnspecifiedMatching +GARD:18850 Carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:56044 semapv:UnspecifiedMatching +GARD:18851 Human prion disease skos:exactMatch Orphanet:56970 semapv:UnspecifiedMatching +GARD:18852 Cirrhotic cardiomyopathy skos:exactMatch Orphanet:57777 semapv:UnspecifiedMatching +GARD:18853 Mazabraud syndrome skos:exactMatch Orphanet:57782 semapv:UnspecifiedMatching +GARD:18854 Osteoblastoma skos:exactMatch Orphanet:58040 semapv:UnspecifiedMatching +GARD:18855 Rhombencephalosynapsis skos:exactMatch Orphanet:59315 semapv:UnspecifiedMatching +GARD:18856 Argyria skos:exactMatch Orphanet:60014 semapv:UnspecifiedMatching +GARD:18857 Rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 semapv:UnspecifiedMatching +GARD:18858 Paraneoplastic pemphigus skos:exactMatch Orphanet:63455 semapv:UnspecifiedMatching +GARD:18859 Acrofacial dysostosis, Kennedy-Teebi type skos:exactMatch Orphanet:64542 semapv:UnspecifiedMatching +GARD:1886 Late-onset distal myopathy, Markesbery-Griggs type skos:exactMatch Orphanet:98912 semapv:UnspecifiedMatching +GARD:1886 Late-onset distal myopathy, Markesbery-Griggs type skos:narrowMatch OMIM:609452 semapv:UnspecifiedMatching +GARD:18860 Benign idiopathic neonatal seizures skos:exactMatch Orphanet:64545 semapv:UnspecifiedMatching +GARD:18861 Oroya fever skos:exactMatch Orphanet:64692 semapv:UnspecifiedMatching +GARD:18862 Trench fever skos:exactMatch Orphanet:64694 semapv:UnspecifiedMatching +GARD:18863 Granulomatous mastitis skos:exactMatch Orphanet:64722 semapv:UnspecifiedMatching +GARD:18864 Pulmonary blastoma skos:exactMatch Orphanet:64741 semapv:UnspecifiedMatching +GARD:18865 Hepatoportal sclerosis skos:exactMatch Orphanet:64743 semapv:UnspecifiedMatching +GARD:18866 IgG4-related thyroid disease skos:exactMatch Orphanet:64744 semapv:UnspecifiedMatching +GARD:18867 Vaginal atresia skos:exactMatch Orphanet:65681 semapv:UnspecifiedMatching +GARD:18868 Short fifth metacarpals-insulin resistance syndrome skos:exactMatch Orphanet:66518 semapv:UnspecifiedMatching +GARD:18869 Sensorineural hearing loss-early graying-essential tremor syndrome skos:exactMatch Orphanet:66633 semapv:UnspecifiedMatching +GARD:1887 Vocal cord and pharyngeal distal myopathy skos:exactMatch Orphanet:600 semapv:UnspecifiedMatching +GARD:1887 Vocal cord and pharyngeal distal myopathy skos:narrowMatch OMIM:606070 semapv:UnspecifiedMatching +GARD:18870 Mast cell sarcoma skos:exactMatch Orphanet:66661 semapv:UnspecifiedMatching +GARD:18871 Extracutaneous mastocytoma skos:exactMatch Orphanet:66662 semapv:UnspecifiedMatching +GARD:18872 Segmental odontomaxillary dysplasia skos:exactMatch Orphanet:67039 semapv:UnspecifiedMatching +GARD:18873 Rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 semapv:UnspecifiedMatching +GARD:18874 Rare chromosomal anomaly skos:exactMatch Orphanet:68335 semapv:UnspecifiedMatching +GARD:18875 Rare genetic tumor skos:exactMatch Orphanet:68336 semapv:UnspecifiedMatching +GARD:18876 Multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:68341 semapv:UnspecifiedMatching +GARD:18877 Rare genetic skin disease skos:exactMatch Orphanet:68346 semapv:UnspecifiedMatching +GARD:18878 Tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 semapv:UnspecifiedMatching +GARD:18879 Rare sleep disorder skos:exactMatch Orphanet:68354 semapv:UnspecifiedMatching +GARD:18880 Rare deafness skos:exactMatch Orphanet:68361 semapv:UnspecifiedMatching +GARD:18881 Rare vascular disease skos:exactMatch Orphanet:68362 semapv:UnspecifiedMatching +GARD:18882 Rare dystonia skos:exactMatch Orphanet:68363 semapv:UnspecifiedMatching +GARD:18883 Hemoglobinopathy skos:exactMatch Orphanet:68364 semapv:UnspecifiedMatching +GARD:18884 Lysosomal disease skos:exactMatch Orphanet:68366 semapv:UnspecifiedMatching +GARD:18885 Peroxisomal disease skos:exactMatch Orphanet:68373 semapv:UnspecifiedMatching +GARD:18886 Congenital limb malformation skos:exactMatch Orphanet:68378 semapv:UnspecifiedMatching +GARD:18887 Mitochondrial disease skos:exactMatch Orphanet:68380 semapv:UnspecifiedMatching +GARD:18888 Neuromuscular disease skos:exactMatch Orphanet:68381 semapv:UnspecifiedMatching +GARD:18889 Rare constitutional aplastic anemia skos:exactMatch Orphanet:68383 semapv:UnspecifiedMatching +GARD:18890 Neurometabolic disease skos:exactMatch Orphanet:68385 semapv:UnspecifiedMatching +GARD:18891 Rare parkinsonian disorder skos:exactMatch Orphanet:68402 semapv:UnspecifiedMatching +GARD:18892 Rare bone tumor skos:exactMatch Orphanet:68411 semapv:UnspecifiedMatching +GARD:18893 Rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 semapv:UnspecifiedMatching +GARD:18894 Vascular anomaly or angioma skos:exactMatch Orphanet:68419 semapv:UnspecifiedMatching +GARD:18895 Dysostosis with brachydactyly skos:exactMatch Orphanet:69028 semapv:UnspecifiedMatching +GARD:18896 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization skos:exactMatch Orphanet:69063 semapv:UnspecifiedMatching +GARD:18897 Bilateral acute depigmentation of the iris skos:exactMatch Orphanet:69736 semapv:UnspecifiedMatching +GARD:18898 Circumscribed palmoplantar hypokeratosis skos:exactMatch Orphanet:69744 semapv:UnspecifiedMatching +GARD:18899 Warty dyskeratoma skos:exactMatch Orphanet:69745 semapv:UnspecifiedMatching +GARD:18900 Radiation proctitis skos:exactMatch Orphanet:70475 semapv:UnspecifiedMatching +GARD:18901 Squamous cell carcinoma of the esophagus skos:exactMatch Orphanet:99977 semapv:UnspecifiedMatching +GARD:18901 Squamous cell carcinoma of the esophagus skos:narrowMatch OMIM:133239 semapv:UnspecifiedMatching +GARD:18902 Adult acute respiratory distress syndrome skos:exactMatch Orphanet:70578 semapv:UnspecifiedMatching +GARD:18903 Congenital Epstein-Barr virus infection skos:exactMatch Orphanet:70596 semapv:UnspecifiedMatching +GARD:18904 Rare pulmonary hypertension skos:exactMatch Orphanet:71198 semapv:UnspecifiedMatching +GARD:18905 Rare hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 semapv:UnspecifiedMatching +GARD:18906 Autoimmune thrombocytopenia skos:exactMatch Orphanet:71203 semapv:UnspecifiedMatching +GARD:18907 Rare soft tissue tumor skos:exactMatch Orphanet:71209 semapv:UnspecifiedMatching +GARD:18908 Retinal capillary malformation skos:exactMatch Orphanet:71213 semapv:UnspecifiedMatching +GARD:18909 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:71267 semapv:UnspecifiedMatching +GARD:1891 Distomatosis skos:exactMatch Orphanet:1685 semapv:UnspecifiedMatching +GARD:18910 Silent sinus syndrome skos:exactMatch Orphanet:71276 semapv:UnspecifiedMatching +GARD:18911 Rare central nervous system and retinal vascular disease skos:exactMatch Orphanet:71281 semapv:UnspecifiedMatching +GARD:18912 Cancer-associated retinopathy skos:exactMatch Orphanet:71505 semapv:UnspecifiedMatching +GARD:18913 Benign paroxysmal torticollis of infancy skos:exactMatch Orphanet:71518 semapv:UnspecifiedMatching +GARD:18914 Psychogenic movement disorders skos:exactMatch Orphanet:71519 semapv:UnspecifiedMatching +GARD:18915 Rare genetic neurological disorder skos:exactMatch Orphanet:71859 semapv:UnspecifiedMatching +GARD:18916 Inherited retinal disorder skos:exactMatch Orphanet:71862 semapv:UnspecifiedMatching +GARD:18917 Muscular channelopathy skos:exactMatch Orphanet:71864 semapv:UnspecifiedMatching +GARD:18918 Intractable diarrhea of infancy skos:exactMatch Orphanet:73014 semapv:UnspecifiedMatching +GARD:18919 Global developmental delay-osteopenia-ectodermal defect syndrome skos:exactMatch Orphanet:73223 semapv:UnspecifiedMatching +GARD:18920 Kidney tubulopathy-dilated cardiomyopathy syndrome skos:exactMatch Orphanet:73224 semapv:UnspecifiedMatching +GARD:18921 Ossification anomalies-psychomotor developmental delay syndrome skos:exactMatch Orphanet:73230 semapv:UnspecifiedMatching +GARD:18922 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:exactMatch Orphanet:73245 semapv:UnspecifiedMatching +GARD:18923 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:73246 semapv:UnspecifiedMatching +GARD:18924 Myiasis skos:exactMatch Orphanet:75110 semapv:UnspecifiedMatching +GARD:18925 Oligocone trichromacy skos:exactMatch Orphanet:75378 semapv:UnspecifiedMatching +GARD:18926 Brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:exactMatch Orphanet:75389 semapv:UnspecifiedMatching +GARD:18927 Angioosteohypotrophic syndrome skos:exactMatch Orphanet:75508 semapv:UnspecifiedMatching +GARD:18928 Tropical endomyocardial fibrosis skos:exactMatch Orphanet:75565 semapv:UnspecifiedMatching +GARD:18929 Loeffler endocarditis skos:exactMatch Orphanet:75566 semapv:UnspecifiedMatching +GARD:18930 Primary progressive freezing gait skos:exactMatch Orphanet:75567 semapv:UnspecifiedMatching +GARD:18931 6q terminal deletion syndrome skos:exactMatch Orphanet:75857 semapv:UnspecifiedMatching +GARD:18932 Primary lymphedema skos:exactMatch Orphanet:77240 semapv:UnspecifiedMatching +GARD:18933 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:exactMatch Orphanet:77300 semapv:UnspecifiedMatching +GARD:18934 Monosomy 9q22.3 skos:exactMatch Orphanet:77301 semapv:UnspecifiedMatching +GARD:18935 Genetic obesity skos:exactMatch Orphanet:77828 semapv:UnspecifiedMatching +GARD:18936 Rare genetic odontologic disease skos:exactMatch Orphanet:77830 semapv:UnspecifiedMatching +GARD:18937 Disorder of amino acid and other organic acid metabolism skos:exactMatch Orphanet:79062 semapv:UnspecifiedMatching +GARD:18938 Folinic acid-responsive seizures skos:exactMatch Orphanet:79097 semapv:UnspecifiedMatching +GARD:18939 Sympathetic ophthalmia skos:exactMatch Orphanet:79098 semapv:UnspecifiedMatching +GARD:1894 Von Voss-Cherstvoy syndrome skos:exactMatch Orphanet:3439 semapv:UnspecifiedMatching +GARD:1894 Von Voss-Cherstvoy syndrome skos:narrowMatch OMIM:223340 semapv:UnspecifiedMatching +GARD:18940 Interstitial granulomatous dermatitis with arthritis skos:exactMatch Orphanet:79099 semapv:UnspecifiedMatching +GARD:18941 Myxofibrosarcoma skos:exactMatch Orphanet:79105 semapv:UnspecifiedMatching +GARD:18942 Respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch Orphanet:79127 semapv:UnspecifiedMatching +GARD:18943 Trichodysplasia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:79129 semapv:UnspecifiedMatching +GARD:18944 Bickerstaff brainstem encephalitis skos:exactMatch Orphanet:79138 semapv:UnspecifiedMatching +GARD:18945 Cerebral organic aciduria skos:exactMatch Orphanet:79158 semapv:UnspecifiedMatching +GARD:18946 Disorder of carbohydrate metabolism skos:exactMatch Orphanet:79161 semapv:UnspecifiedMatching +GARD:18947 Classic organic aciduria skos:exactMatch Orphanet:79163 semapv:UnspecifiedMatching +GARD:18948 Disorder of amino acid absorption and transport skos:exactMatch Orphanet:79166 semapv:UnspecifiedMatching +GARD:18949 Disorder of bile acid synthesis skos:exactMatch Orphanet:79168 semapv:UnspecifiedMatching +GARD:18950 Disorder of neurotransmitter metabolism and transport skos:exactMatch Orphanet:79169 semapv:UnspecifiedMatching +GARD:18951 Disorder of cobalamin metabolism and transport skos:exactMatch Orphanet:79171 semapv:UnspecifiedMatching +GARD:18952 Creatine deficiency syndrome skos:exactMatch Orphanet:79172 semapv:UnspecifiedMatching +GARD:18953 Disorder of methionine cycle and sulfur amino acid metabolism skos:exactMatch Orphanet:79173 semapv:UnspecifiedMatching +GARD:18954 Disorder of fatty acid oxidation and ketone body metabolism skos:exactMatch Orphanet:79174 semapv:UnspecifiedMatching +GARD:18955 Disorder of gamma-aminobutyric acid metabolism skos:exactMatch Orphanet:79175 semapv:UnspecifiedMatching +GARD:18956 Gluconeogenesis disorder skos:exactMatch Orphanet:79177 semapv:UnspecifiedMatching +GARD:18957 Glucose transport disorder skos:exactMatch Orphanet:79178 semapv:UnspecifiedMatching +GARD:18958 Disorder of glycerol metabolism skos:exactMatch Orphanet:79179 semapv:UnspecifiedMatching +GARD:18959 Disorder of histidine metabolism skos:exactMatch Orphanet:79181 semapv:UnspecifiedMatching +GARD:1896 Cleft palate skos:exactMatch Orphanet:2014 semapv:UnspecifiedMatching +GARD:1896 Cleft palate skos:narrowMatch OMIM:119540 semapv:UnspecifiedMatching +GARD:18960 Disorder of ketolysis skos:exactMatch Orphanet:79183 semapv:UnspecifiedMatching +GARD:18961 Disorder of ornithine or proline metabolism skos:exactMatch Orphanet:79185 semapv:UnspecifiedMatching +GARD:18962 Disorder of pentose phosphate metabolism skos:exactMatch Orphanet:79186 semapv:UnspecifiedMatching +GARD:18963 Disorder of peptide metabolism skos:exactMatch Orphanet:79187 semapv:UnspecifiedMatching +GARD:18964 Disorder of phenylalanin or tyrosine metabolism skos:exactMatch Orphanet:79190 semapv:UnspecifiedMatching +GARD:18965 Disorder of purine metabolism skos:exactMatch Orphanet:79191 semapv:UnspecifiedMatching +GARD:18966 Disorder of pyridoxine metabolism skos:exactMatch Orphanet:79192 semapv:UnspecifiedMatching +GARD:18967 Disorder of pyrimidine metabolism skos:exactMatch Orphanet:79193 semapv:UnspecifiedMatching +GARD:18968 Disorder of serine or glycine metabolism skos:exactMatch Orphanet:79194 semapv:UnspecifiedMatching +GARD:18969 Sterol biosynthesis disorder skos:exactMatch Orphanet:79195 semapv:UnspecifiedMatching +GARD:18970 Disorder of the gamma-glutamyl cycle skos:exactMatch Orphanet:79196 semapv:UnspecifiedMatching +GARD:18971 Disorder of branched-chain amino acid metabolism skos:exactMatch Orphanet:79197 semapv:UnspecifiedMatching +GARD:18972 Disorder of energy metabolism skos:exactMatch Orphanet:79200 semapv:UnspecifiedMatching +GARD:18973 Glycogen storage disease skos:exactMatch Orphanet:79201 semapv:UnspecifiedMatching +GARD:18974 Disorder of lysosomal amino acid transport skos:exactMatch Orphanet:79207 semapv:UnspecifiedMatching +GARD:18975 Mucolipidosis skos:exactMatch Orphanet:79212 semapv:UnspecifiedMatching +GARD:18976 Disorder of biogenic amine metabolism and transport skos:exactMatch Orphanet:79214 semapv:UnspecifiedMatching +GARD:18977 Oligosaccharidosis skos:exactMatch Orphanet:79215 semapv:UnspecifiedMatching +GARD:18978 Other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 semapv:UnspecifiedMatching +GARD:18979 Metabolic disease involving other neurotransmitter deficiency skos:exactMatch Orphanet:79219 semapv:UnspecifiedMatching +GARD:1898 Early-onset zonular cataract skos:exactMatch Orphanet:98995 semapv:UnspecifiedMatching +GARD:1898 Early-onset zonular cataract skos:narrowMatch OMIM:116400 semapv:UnspecifiedMatching +GARD:1898 Early-onset zonular cataract skos:narrowMatch OMIM:605728 semapv:UnspecifiedMatching +GARD:1898 Early-onset zonular cataract skos:narrowMatch OMIM:607304 semapv:UnspecifiedMatching +GARD:1898 Early-onset zonular cataract skos:narrowMatch OMIM:609376 semapv:UnspecifiedMatching +GARD:1898 Early-onset zonular cataract skos:narrowMatch OMIM:610019 semapv:UnspecifiedMatching +GARD:1898 Early-onset zonular cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +GARD:18980 Disorder of purine or pyrimidine metabolism skos:exactMatch Orphanet:79224 semapv:UnspecifiedMatching +GARD:18981 Sterol metabolism disorder skos:exactMatch Orphanet:79226 semapv:UnspecifiedMatching +GARD:18982 Classic phenylketonuria skos:exactMatch Orphanet:79254 semapv:UnspecifiedMatching +GARD:18983 Diazoxide-resistant focal hyperinsulinism skos:exactMatch Orphanet:79298 semapv:UnspecifiedMatching +GARD:18984 Epidermal disease skos:exactMatch Orphanet:79353 semapv:UnspecifiedMatching +GARD:18985 Ichthyosis skos:exactMatch Orphanet:79354 semapv:UnspecifiedMatching +GARD:18986 Erythrokeratoderma skos:exactMatch Orphanet:79355 semapv:UnspecifiedMatching +GARD:18987 Acrokeratoderma skos:exactMatch Orphanet:79356 semapv:UnspecifiedMatching +GARD:18988 Hereditary palmoplantar keratoderma skos:exactMatch Orphanet:79357 semapv:UnspecifiedMatching +GARD:18989 Porokeratosis skos:exactMatch Orphanet:79358 semapv:UnspecifiedMatching +GARD:1899 Donnai-Barrow syndrome skos:exactMatch Orphanet:2143 semapv:UnspecifiedMatching +GARD:1899 Donnai-Barrow syndrome skos:narrowMatch OMIM:222448 semapv:UnspecifiedMatching +GARD:18990 Other epidermal disorder skos:exactMatch Orphanet:79359 semapv:UnspecifiedMatching +GARD:18991 Other genetic epidermal disease skos:exactMatch Orphanet:79360 semapv:UnspecifiedMatching +GARD:18992 Inherited epidermolysis bullosa skos:exactMatch Orphanet:79361 semapv:UnspecifiedMatching +GARD:18993 Epidermal appendage anomaly skos:exactMatch Orphanet:79362 semapv:UnspecifiedMatching +GARD:18994 Hair anomaly skos:exactMatch Orphanet:79363 semapv:UnspecifiedMatching +GARD:18995 Alopecia skos:exactMatch Orphanet:79364 semapv:UnspecifiedMatching +GARD:18996 Rare disorder with hypertrichosis skos:exactMatch Orphanet:79365 semapv:UnspecifiedMatching +GARD:18997 Isolated hair shaft abnormality skos:exactMatch Orphanet:79366 semapv:UnspecifiedMatching +GARD:18998 Syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 semapv:UnspecifiedMatching +GARD:18999 Nail anomaly skos:exactMatch Orphanet:79368 semapv:UnspecifiedMatching +GARD:19 Dihydropyrimidine dehydrogenase deficiency skos:exactMatch Orphanet:1675 semapv:UnspecifiedMatching +GARD:19 Dihydropyrimidine dehydrogenase deficiency skos:narrowMatch OMIM:274270 semapv:UnspecifiedMatching +GARD:19000 Isolated nail anomaly skos:exactMatch Orphanet:79369 semapv:UnspecifiedMatching +GARD:19001 Syndromic nail anomaly skos:exactMatch Orphanet:79370 semapv:UnspecifiedMatching +GARD:19002 Sebaceous gland anomaly skos:exactMatch Orphanet:79372 semapv:UnspecifiedMatching +GARD:19003 Pigmentation anomaly of the skin skos:exactMatch Orphanet:79374 semapv:UnspecifiedMatching +GARD:19004 Hyperpigmentation of the skin skos:exactMatch Orphanet:79375 semapv:UnspecifiedMatching +GARD:19005 Hypopigmentation of the skin skos:exactMatch Orphanet:79376 semapv:UnspecifiedMatching +GARD:19006 Dermis disorder skos:exactMatch Orphanet:79377 semapv:UnspecifiedMatching +GARD:19007 Dermis elastic tissue disorder skos:exactMatch Orphanet:79378 semapv:UnspecifiedMatching +GARD:19008 Skin vascular disease skos:exactMatch Orphanet:79379 semapv:UnspecifiedMatching +GARD:19009 Mixed dermis disorder skos:exactMatch Orphanet:79380 semapv:UnspecifiedMatching +GARD:19010 Other dermis disorder skos:exactMatch Orphanet:79381 semapv:UnspecifiedMatching +GARD:19011 Subcutaneous tissue disease skos:exactMatch Orphanet:79382 semapv:UnspecifiedMatching +GARD:19012 Rare urticaria skos:exactMatch Orphanet:79384 semapv:UnspecifiedMatching +GARD:19013 Unclassified genetic skin disorder skos:exactMatch Orphanet:79385 semapv:UnspecifiedMatching +GARD:19014 Rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 semapv:UnspecifiedMatching +GARD:19015 Metabolic disease with skin involvement skos:exactMatch Orphanet:79387 semapv:UnspecifiedMatching +GARD:19016 Mucopolysaccharidosis with skin involvement skos:exactMatch Orphanet:79388 semapv:UnspecifiedMatching +GARD:19017 Premature aging skos:exactMatch Orphanet:79389 semapv:UnspecifiedMatching +GARD:19018 Rare photodermatosis skos:exactMatch Orphanet:79390 semapv:UnspecifiedMatching +GARD:19019 Immune deficiency with skin involvement skos:exactMatch Orphanet:79391 semapv:UnspecifiedMatching +GARD:1902 Autosomal recessive dopa-responsive dystonia skos:exactMatch Orphanet:101150 semapv:UnspecifiedMatching +GARD:1902 Autosomal recessive dopa-responsive dystonia skos:narrowMatch OMIM:605407 semapv:UnspecifiedMatching +GARD:19020 Verrucous nevus skos:exactMatch Orphanet:79467 semapv:UnspecifiedMatching +GARD:19021 Pemphigus vegetans skos:exactMatch Orphanet:79479 semapv:UnspecifiedMatching +GARD:19022 Pemphigus erythematosus skos:exactMatch Orphanet:79480 semapv:UnspecifiedMatching +GARD:19023 Phakomatosis cesioflammea skos:exactMatch Orphanet:79483 semapv:UnspecifiedMatching +GARD:19024 Phakomatosis cesiomarmorata skos:exactMatch Orphanet:79484 semapv:UnspecifiedMatching +GARD:19025 Phakomatosis spilorosea skos:exactMatch Orphanet:79485 semapv:UnspecifiedMatching +GARD:19026 Pili gemini skos:exactMatch Orphanet:79492 semapv:UnspecifiedMatching +GARD:19027 Mild hyperphenylalaninemia skos:exactMatch Orphanet:79651 semapv:UnspecifiedMatching +GARD:19028 Autoimmune bullous skin disease skos:exactMatch Orphanet:79669 semapv:UnspecifiedMatching +GARD:19029 Urogenital tract malformation skos:exactMatch Orphanet:83001 semapv:UnspecifiedMatching +GARD:1903 Dopamine beta-hydroxylase deficiency skos:exactMatch Orphanet:230 semapv:UnspecifiedMatching +GARD:1903 Dopamine beta-hydroxylase deficiency skos:narrowMatch OMIM:223360 semapv:UnspecifiedMatching +GARD:19030 Rickettsialpox skos:exactMatch Orphanet:83312 semapv:UnspecifiedMatching +GARD:19031 Boutonneuse fever skos:exactMatch Orphanet:83313 semapv:UnspecifiedMatching +GARD:19032 Epidemic typhus skos:exactMatch Orphanet:83314 semapv:UnspecifiedMatching +GARD:19033 Murine typhus skos:exactMatch Orphanet:83315 semapv:UnspecifiedMatching +GARD:19034 Pseudotyphus of California skos:exactMatch Orphanet:83316 semapv:UnspecifiedMatching +GARD:19035 Scrub typhus skos:exactMatch Orphanet:83317 semapv:UnspecifiedMatching +GARD:19036 Regional odontodysplasia skos:exactMatch Orphanet:83450 semapv:UnspecifiedMatching +GARD:19037 Vulvovaginal gingival syndrome skos:exactMatch Orphanet:83453 semapv:UnspecifiedMatching +GARD:19038 Narcolepsy type 2 skos:exactMatch Orphanet:83465 semapv:UnspecifiedMatching +GARD:19039 Solitary bone cyst skos:exactMatch Orphanet:83468 semapv:UnspecifiedMatching +GARD:1904 Subcortical band heterotopia skos:exactMatch Orphanet:99796 semapv:UnspecifiedMatching +GARD:1904 Subcortical band heterotopia skos:narrowMatch OMIM:300067 semapv:UnspecifiedMatching +GARD:1904 Subcortical band heterotopia skos:narrowMatch OMIM:600348 semapv:UnspecifiedMatching +GARD:1904 Subcortical band heterotopia skos:narrowMatch OMIM:607432 semapv:UnspecifiedMatching +GARD:19040 Mycoplasma encephalitis skos:exactMatch Orphanet:83482 semapv:UnspecifiedMatching +GARD:19041 St. Louis encephalitis skos:exactMatch Orphanet:83484 semapv:UnspecifiedMatching +GARD:19042 Colorado tick fever skos:exactMatch Orphanet:83595 semapv:UnspecifiedMatching +GARD:19043 Rubella panencephalitis skos:exactMatch Orphanet:83616 semapv:UnspecifiedMatching +GARD:19044 Macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:exactMatch Orphanet:83619 semapv:UnspecifiedMatching +GARD:19045 LUMBAR syndrome skos:exactMatch Orphanet:83628 semapv:UnspecifiedMatching +GARD:19046 Idiopathic malabsorption due to bile acid synthesis defects skos:exactMatch Orphanet:84065 semapv:UnspecifiedMatching +GARD:19047 Hinman syndrome skos:exactMatch Orphanet:84085 semapv:UnspecifiedMatching +GARD:19048 Collagen type III glomerulopathy skos:exactMatch Orphanet:84087 semapv:UnspecifiedMatching +GARD:19049 Craniofacial conodysplasia skos:exactMatch Orphanet:85168 semapv:UnspecifiedMatching +GARD:19050 Astley-Kendall dysplasia skos:exactMatch Orphanet:85175 semapv:UnspecifiedMatching +GARD:19051 Dysspondyloenchondromatosis skos:exactMatch Orphanet:85198 semapv:UnspecifiedMatching +GARD:19052 Ischiovertebral syndrome skos:exactMatch Orphanet:85200 semapv:UnspecifiedMatching +GARD:19053 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:exactMatch Orphanet:85317 semapv:UnspecifiedMatching +GARD:19054 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:exactMatch Orphanet:85319 semapv:UnspecifiedMatching +GARD:19055 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:exactMatch Orphanet:85320 semapv:UnspecifiedMatching +GARD:19056 X-linked intellectual disability, Pai type skos:exactMatch Orphanet:85322 semapv:UnspecifiedMatching +GARD:19057 X-linked intellectual disability, Seemanova type skos:exactMatch Orphanet:85323 semapv:UnspecifiedMatching +GARD:19058 X-linked intellectual disability, Stevenson type skos:exactMatch Orphanet:85325 semapv:UnspecifiedMatching +GARD:19059 X-linked intellectual disability, Stoll type skos:exactMatch Orphanet:85326 semapv:UnspecifiedMatching +GARD:19060 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:exactMatch Orphanet:85327 semapv:UnspecifiedMatching +GARD:19061 X-linked neurodegenerative syndrome, Bertini type skos:exactMatch Orphanet:85334 semapv:UnspecifiedMatching +GARD:19062 X-linked neurodegenerative syndrome, Hamel type skos:exactMatch Orphanet:85336 semapv:UnspecifiedMatching +GARD:19063 X-linked intellectual disability-ataxia-apraxia syndrome skos:exactMatch Orphanet:85338 semapv:UnspecifiedMatching +GARD:19064 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85435 semapv:UnspecifiedMatching +GARD:19065 Wild type ABeta2M amyloidosis skos:exactMatch Orphanet:85446 semapv:UnspecifiedMatching +GARD:19066 Atypical lichen myxedematosus skos:exactMatch Orphanet:86797 semapv:UnspecifiedMatching +GARD:19067 Lissencephaly type 3-familial fetal akinesia sequence syndrome skos:exactMatch Orphanet:86821 semapv:UnspecifiedMatching +GARD:19068 Lissencephaly with cerebellar hypoplasia skos:exactMatch Orphanet:86823 semapv:UnspecifiedMatching +GARD:19069 Refractory cytopenia with multilineage dysplasia skos:exactMatch Orphanet:86836 semapv:UnspecifiedMatching +GARD:1907 Double outlet left ventricle skos:exactMatch Orphanet:3427 semapv:UnspecifiedMatching +GARD:19070 Refractory anemia with excess blasts skos:exactMatch Orphanet:86839 semapv:UnspecifiedMatching +GARD:19071 Acute basophilic leukemia skos:exactMatch Orphanet:86849 semapv:UnspecifiedMatching +GARD:19072 Splenic marginal zone lymphoma skos:exactMatch Orphanet:86854 semapv:UnspecifiedMatching +GARD:19073 Non-amyloid monoclonal immunoglobulin deposition disease skos:exactMatch Orphanet:86861 semapv:UnspecifiedMatching +GARD:19074 Heavy chain disease skos:exactMatch Orphanet:86864 semapv:UnspecifiedMatching +GARD:19075 Nodal marginal zone B-cell lymphoma skos:exactMatch Orphanet:86867 semapv:UnspecifiedMatching +GARD:19076 Adult T-cell leukemia/lymphoma skos:exactMatch Orphanet:86875 semapv:UnspecifiedMatching +GARD:19077 Hepatosplenic T-cell lymphoma skos:exactMatch Orphanet:86882 semapv:UnspecifiedMatching +GARD:19078 Primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch Orphanet:86885 semapv:UnspecifiedMatching +GARD:19079 Nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch Orphanet:86893 semapv:UnspecifiedMatching +GARD:1908 Double outlet right ventricle skos:exactMatch Orphanet:3426 semapv:UnspecifiedMatching +GARD:1908 Double outlet right ventricle skos:narrowMatch OMIM:217095 semapv:UnspecifiedMatching +GARD:19080 Histiocytic sarcoma skos:exactMatch Orphanet:86896 semapv:UnspecifiedMatching +GARD:19081 Follicular dendritic cell sarcoma skos:exactMatch Orphanet:86902 semapv:UnspecifiedMatching +GARD:19082 Dendritic cell sarcoma not otherwise specified skos:exactMatch Orphanet:86903 semapv:UnspecifiedMatching +GARD:19083 Methotrexate-associated lymphoproliferative disorders skos:exactMatch Orphanet:86904 semapv:UnspecifiedMatching +GARD:19084 Hypothalamic hamartomas with gelastic seizures skos:exactMatch Orphanet:86906 semapv:UnspecifiedMatching +GARD:19085 Idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch Orphanet:86908 semapv:UnspecifiedMatching +GARD:19086 Myoclonic epilepsy of infancy skos:exactMatch Orphanet:86909 semapv:UnspecifiedMatching +GARD:19087 Epilepsy with myoclonic absences skos:exactMatch Orphanet:86911 semapv:UnspecifiedMatching +GARD:19088 Myoclonic epilepsy in non-progressive encephalopathies skos:exactMatch Orphanet:86913 semapv:UnspecifiedMatching +GARD:19089 Diffuse palmoplantar keratoderma-acrocyanosis syndrome skos:exactMatch Orphanet:86918 semapv:UnspecifiedMatching +GARD:19090 Rare intellectual disability skos:exactMatch Orphanet:87277 semapv:UnspecifiedMatching +GARD:19091 Non-syndromic genetic deafness skos:exactMatch Orphanet:87884 semapv:UnspecifiedMatching +GARD:19092 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:exactMatch Orphanet:88643 semapv:UnspecifiedMatching +GARD:19093 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor skos:exactMatch Orphanet:88660 semapv:UnspecifiedMatching +GARD:19094 Rare congenital non-syndromic heart malformation skos:exactMatch Orphanet:88991 semapv:UnspecifiedMatching +GARD:19095 Esophageal malformation skos:exactMatch Orphanet:88993 semapv:UnspecifiedMatching +GARD:19096 Rare dementia skos:exactMatch Orphanet:89043 semapv:UnspecifiedMatching +GARD:19097 Undifferentiated connective tissue syndrome skos:exactMatch Orphanet:90002 semapv:UnspecifiedMatching +GARD:19098 Inflammatory pseudotumor of the liver skos:exactMatch Orphanet:90003 semapv:UnspecifiedMatching +GARD:19099 Radiation myelitis skos:exactMatch Orphanet:90021 semapv:UnspecifiedMatching +GARD:1910 Double uterus-hemivagina-renal agenesis syndrome skos:exactMatch Orphanet:3411 semapv:UnspecifiedMatching +GARD:1910 Double uterus-hemivagina-renal agenesis syndrome skos:narrowMatch OMIM:192050 semapv:UnspecifiedMatching +GARD:19100 Non-syndromic syndactyly skos:exactMatch Orphanet:90025 semapv:UnspecifiedMatching +GARD:19101 Mixed-type autoimmune hemolytic anemia skos:exactMatch Orphanet:90036 semapv:UnspecifiedMatching +GARD:19102 Drug-induced autoimmune hemolytic anemia skos:exactMatch Orphanet:90037 semapv:UnspecifiedMatching +GARD:19103 Hemoglobin D disease skos:exactMatch Orphanet:90039 semapv:UnspecifiedMatching +GARD:19104 Gaisböck syndrome skos:exactMatch Orphanet:90041 semapv:UnspecifiedMatching +GARD:19105 Sepsis in premature infants skos:exactMatch Orphanet:90051 semapv:UnspecifiedMatching +GARD:19106 Recurrent hepatitis C virus induced liver disease in liver transplant recipients skos:exactMatch Orphanet:90052 semapv:UnspecifiedMatching +GARD:19107 Complications after hematopoietic stem cell transplantation skos:exactMatch Orphanet:90053 semapv:UnspecifiedMatching +GARD:19108 Moderate and severe traumatic brain injury skos:exactMatch Orphanet:90056 semapv:UnspecifiedMatching +GARD:19109 Spinal cord injury skos:exactMatch Orphanet:90058 semapv:UnspecifiedMatching +GARD:19110 Diffuse alveolar hemorrhage skos:exactMatch Orphanet:90060 semapv:UnspecifiedMatching +GARD:19111 Non-infectious posterior uveitis skos:exactMatch Orphanet:90061 semapv:UnspecifiedMatching +GARD:19112 Acute liver failure skos:exactMatch Orphanet:90062 semapv:UnspecifiedMatching +GARD:19113 Acute peripheral arterial occlusion skos:exactMatch Orphanet:90064 semapv:UnspecifiedMatching +GARD:19114 Acquired aneurysmal subarachnoid hemorrhage skos:exactMatch Orphanet:90065 semapv:UnspecifiedMatching +GARD:19115 Cocaine intoxication skos:exactMatch Orphanet:90068 semapv:UnspecifiedMatching +GARD:19116 Systemic monochloroacetate poisoning skos:exactMatch Orphanet:90069 semapv:UnspecifiedMatching +GARD:19117 Hepatitis B reinfection following liver transplantation skos:exactMatch Orphanet:90073 semapv:UnspecifiedMatching +GARD:19118 Partial deep dermal and full thickness burns skos:exactMatch Orphanet:90076 semapv:UnspecifiedMatching +GARD:19119 Other acquired skin disease skos:exactMatch Orphanet:90077 semapv:UnspecifiedMatching +GARD:1912 Familial drusen skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching +GARD:1912 Familial drusen skos:narrowMatch OMIM:126600 semapv:UnspecifiedMatching +GARD:1912 Familial drusen skos:narrowMatch OMIM:126700 semapv:UnspecifiedMatching +GARD:19120 Invasive infections due to vancomycin-resistant enterococci skos:exactMatch Orphanet:90078 semapv:UnspecifiedMatching +GARD:19121 Scarring in glaucoma filtration surgical procedures skos:exactMatch Orphanet:90080 semapv:UnspecifiedMatching +GARD:19122 AIDS wasting syndrome skos:exactMatch Orphanet:90081 semapv:UnspecifiedMatching +GARD:19123 Severe early-onset axonal neuropathy due to MFN2 deficiency skos:exactMatch Orphanet:90118 semapv:UnspecifiedMatching +GARD:19124 Hereditary motor and sensory neuropathy with acrodystrophy skos:exactMatch Orphanet:90119 semapv:UnspecifiedMatching +GARD:19125 Centrifugal lipodystrophy skos:exactMatch Orphanet:90156 semapv:UnspecifiedMatching +GARD:19126 Drug-induced localized lipodystrophy skos:exactMatch Orphanet:90157 semapv:UnspecifiedMatching +GARD:19127 Idiopathic localized lipodystrophy skos:exactMatch Orphanet:90158 semapv:UnspecifiedMatching +GARD:19128 Panniculitis-induced localized lipodystrophy skos:exactMatch Orphanet:90159 semapv:UnspecifiedMatching +GARD:19129 Pressure-induced localized lipoatrophy skos:exactMatch Orphanet:90160 semapv:UnspecifiedMatching +GARD:19130 Chilblain lupus skos:exactMatch Orphanet:90280 semapv:UnspecifiedMatching +GARD:19131 Discoid lupus erythematosus skos:exactMatch Orphanet:90281 semapv:UnspecifiedMatching +GARD:19132 Hypertrophic or verrucous lupus erythematosus skos:exactMatch Orphanet:90282 semapv:UnspecifiedMatching +GARD:19133 Lupus erythematosus panniculitis skos:exactMatch Orphanet:90285 semapv:UnspecifiedMatching +GARD:19134 Autosomal recessive cutis laxa type 2 skos:exactMatch Orphanet:90350 semapv:UnspecifiedMatching +GARD:19135 Secondary intestinal lymphangiectasia skos:exactMatch Orphanet:90363 semapv:UnspecifiedMatching +GARD:19136 Telangiectasia macularis eruptiva perstans skos:exactMatch Orphanet:90389 semapv:UnspecifiedMatching +GARD:19137 Nodular lichen myxedematosus skos:exactMatch Orphanet:90393 semapv:UnspecifiedMatching +GARD:19138 Discrete papular lichen myxedematosus skos:exactMatch Orphanet:90394 semapv:UnspecifiedMatching +GARD:19139 Papular mucinosis of infancy skos:exactMatch Orphanet:90395 semapv:UnspecifiedMatching +GARD:19140 Acral persistent papular mucinosis skos:exactMatch Orphanet:90396 semapv:UnspecifiedMatching +GARD:19141 Self-healing papular mucinosis skos:exactMatch Orphanet:90397 semapv:UnspecifiedMatching +GARD:19142 Localized lichen myxedematosus with mixed features of different subtypes skos:exactMatch Orphanet:90398 semapv:UnspecifiedMatching +GARD:19143 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:exactMatch Orphanet:90399 semapv:UnspecifiedMatching +GARD:19144 Scleromyxedema without monoclonal gammopathy skos:exactMatch Orphanet:90400 semapv:UnspecifiedMatching +GARD:19145 Syndromic genetic deafness skos:exactMatch Orphanet:90642 semapv:UnspecifiedMatching +GARD:19146 Rare endocrine growth disease skos:exactMatch Orphanet:90692 semapv:UnspecifiedMatching +GARD:19147 Disorder of sex development skos:exactMatch Orphanet:90771 semapv:UnspecifiedMatching +GARD:19148 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 semapv:UnspecifiedMatching +GARD:19149 46,XY disorder of sex development due to a testosterone synthesis defect skos:exactMatch Orphanet:90783 semapv:UnspecifiedMatching +GARD:19150 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect skos:exactMatch Orphanet:90786 semapv:UnspecifiedMatching +GARD:19151 46,XY disorder of sex development due to testicular steroidogenesis defect skos:exactMatch Orphanet:90787 semapv:UnspecifiedMatching +GARD:19152 Other metabolic disease skos:exactMatch Orphanet:91088 semapv:UnspecifiedMatching +GARD:19153 Adenovirus infection in immunocompromised patients skos:exactMatch Orphanet:91127 semapv:UnspecifiedMatching +GARD:19154 Acquired monoclonal Ig light chain-associated Fanconi syndrome skos:exactMatch Orphanet:91136 semapv:UnspecifiedMatching +GARD:19155 Unspecified juvenile idiopathic arthritis skos:exactMatch Orphanet:91140 semapv:UnspecifiedMatching +GARD:19156 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 semapv:UnspecifiedMatching +GARD:19157 TSH-secreting pituitary adenoma skos:exactMatch Orphanet:91347 semapv:UnspecifiedMatching +GARD:19158 Functioning gonadotropic adenoma skos:exactMatch Orphanet:91348 semapv:UnspecifiedMatching +GARD:19159 Non-functioning pituitary adenoma skos:exactMatch Orphanet:91349 semapv:UnspecifiedMatching +GARD:19160 Pituitary deficiency due to Rathke cleft cysts skos:exactMatch Orphanet:91350 semapv:UnspecifiedMatching +GARD:19161 Pituitary dermoid and epidermoid cysts skos:exactMatch Orphanet:91351 semapv:UnspecifiedMatching +GARD:19162 Germinoma of the central nervous system skos:exactMatch Orphanet:91352 semapv:UnspecifiedMatching +GARD:19163 Pituitary deficiency due to empty sella turcica syndrome skos:exactMatch Orphanet:91354 semapv:UnspecifiedMatching +GARD:19164 Duplication of the esophagus skos:exactMatch Orphanet:91357 semapv:UnspecifiedMatching +GARD:19165 Congenital esophageal diverticulum skos:exactMatch Orphanet:91358 semapv:UnspecifiedMatching +GARD:19166 Chronic pneumonitis of infancy skos:exactMatch Orphanet:91359 semapv:UnspecifiedMatching +GARD:19167 Non-specific interstitial pneumonia skos:exactMatch Orphanet:91364 semapv:UnspecifiedMatching +GARD:19168 Isolated ankyloblepharon filiforme adnatum skos:exactMatch Orphanet:91397 semapv:UnspecifiedMatching +GARD:19169 Congenital ectropion uveae skos:exactMatch Orphanet:91491 semapv:UnspecifiedMatching +GARD:1917 Dermatitis herpetiformis skos:exactMatch Orphanet:1656 semapv:UnspecifiedMatching +GARD:1917 Dermatitis herpetiformis skos:narrowMatch OMIM:601230 semapv:UnspecifiedMatching +GARD:19170 Lyme disease skos:exactMatch Orphanet:91546 semapv:UnspecifiedMatching +GARD:19171 Relapsing fever skos:exactMatch Orphanet:91547 semapv:UnspecifiedMatching +GARD:19172 Renal hypoplasia skos:exactMatch Orphanet:93101 semapv:UnspecifiedMatching +GARD:19173 Renal dysplasia skos:exactMatch Orphanet:93108 semapv:UnspecifiedMatching +GARD:19174 Congenital megacalycosis skos:exactMatch Orphanet:93109 semapv:UnspecifiedMatching +GARD:19175 Pauci-immune glomerulonephritis skos:exactMatch Orphanet:93126 semapv:UnspecifiedMatching +GARD:19176 Transient pseudohypoaldosteronism skos:exactMatch Orphanet:93164 semapv:UnspecifiedMatching +GARD:19177 Renal dysplasia, unilateral skos:exactMatch Orphanet:93172 semapv:UnspecifiedMatching +GARD:19178 Renal dysplasia, bilateral skos:exactMatch Orphanet:93173 semapv:UnspecifiedMatching +GARD:19179 Unilateral congenital megacalycosis skos:exactMatch Orphanet:93176 semapv:UnspecifiedMatching +GARD:19180 Congenital bilateral megacalycosis skos:exactMatch Orphanet:93177 semapv:UnspecifiedMatching +GARD:19181 Monostotic fibrous dysplasia skos:exactMatch Orphanet:93277 semapv:UnspecifiedMatching +GARD:19182 Ulnar hemimelia skos:exactMatch Orphanet:93320 semapv:UnspecifiedMatching +GARD:19183 Juvenile sialidosis type 2 skos:exactMatch Orphanet:93399 semapv:UnspecifiedMatching +GARD:19184 Congenital sialidosis type 2 skos:exactMatch Orphanet:93400 semapv:UnspecifiedMatching +GARD:19185 FGFR3-related chondrodysplasia skos:exactMatch Orphanet:93420 semapv:UnspecifiedMatching +GARD:19186 Type 2 collagen-related bone disorder skos:exactMatch Orphanet:93421 semapv:UnspecifiedMatching +GARD:19187 Type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 semapv:UnspecifiedMatching +GARD:19188 Sulfation-related bone disorder skos:exactMatch Orphanet:93423 semapv:UnspecifiedMatching +GARD:19189 Perlecan-related bone disorder skos:exactMatch Orphanet:93424 semapv:UnspecifiedMatching +GARD:19190 Filamin-related bone disorder skos:exactMatch Orphanet:93425 semapv:UnspecifiedMatching +GARD:19191 Multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 semapv:UnspecifiedMatching +GARD:19192 Multiple metaphyseal dysplasia skos:exactMatch Orphanet:93430 semapv:UnspecifiedMatching +GARD:19193 Spondylodysplastic dysplasia skos:exactMatch Orphanet:93434 semapv:UnspecifiedMatching +GARD:19194 Acromelic dysplasia skos:exactMatch Orphanet:93436 semapv:UnspecifiedMatching +GARD:19195 Mesomelic and rhizo-mesomelic dysplasia skos:exactMatch Orphanet:93438 semapv:UnspecifiedMatching +GARD:19196 Campomelic dysplasia and related disorders skos:exactMatch Orphanet:93439 semapv:UnspecifiedMatching +GARD:19197 Slender bone dysplasia skos:exactMatch Orphanet:93440 semapv:UnspecifiedMatching +GARD:19198 Primary bone dysplasia with multiple joint dislocations skos:exactMatch Orphanet:93441 semapv:UnspecifiedMatching +GARD:19199 Neonatal osteosclerotic dysplasia skos:exactMatch Orphanet:93443 semapv:UnspecifiedMatching +GARD:192 Cataract-intellectual disability-anal atresia-urinary defects syndrome skos:exactMatch Orphanet:1381 semapv:UnspecifiedMatching +GARD:19200 Primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 semapv:UnspecifiedMatching +GARD:19201 Primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 semapv:UnspecifiedMatching +GARD:19202 Primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 semapv:UnspecifiedMatching +GARD:19203 Lysosomal storage disease with skeletal involvement skos:exactMatch Orphanet:93448 semapv:UnspecifiedMatching +GARD:19204 Primary osteolysis skos:exactMatch Orphanet:93449 semapv:UnspecifiedMatching +GARD:19205 Primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 semapv:UnspecifiedMatching +GARD:19206 Cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 semapv:UnspecifiedMatching +GARD:19207 Dysostosis with predominant craniofacial involvement skos:exactMatch Orphanet:93453 semapv:UnspecifiedMatching +GARD:19208 Dysostosis with predominant vertebral and costal involvement skos:exactMatch Orphanet:93454 semapv:UnspecifiedMatching +GARD:19209 Patellar dysostosis skos:exactMatch Orphanet:93455 semapv:UnspecifiedMatching +GARD:19210 Non-syndromic limb reduction defect skos:exactMatch Orphanet:93457 semapv:UnspecifiedMatching +GARD:19211 Non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 semapv:UnspecifiedMatching +GARD:19212 Syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 semapv:UnspecifiedMatching +GARD:19213 Overgrowth syndrome skos:exactMatch Orphanet:93460 semapv:UnspecifiedMatching +GARD:19214 Chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 semapv:UnspecifiedMatching +GARD:19215 Lethal chondrodysplasia skos:exactMatch Orphanet:93465 semapv:UnspecifiedMatching +GARD:19216 Renal or urinary tract malformation skos:exactMatch Orphanet:93545 semapv:UnspecifiedMatching +GARD:19217 Non-syndromic renal or urinary tract malformation skos:exactMatch Orphanet:93546 semapv:UnspecifiedMatching +GARD:19218 Syndromic renal or urinary tract malformation skos:exactMatch Orphanet:93547 semapv:UnspecifiedMatching +GARD:19219 Pediatric systemic lupus erythematosus skos:exactMatch Orphanet:93552 semapv:UnspecifiedMatching +GARD:19220 Mixed cryoglobulinemia type II skos:exactMatch Orphanet:93554 semapv:UnspecifiedMatching +GARD:19221 Mixed cryoglobulinemia type III skos:exactMatch Orphanet:93555 semapv:UnspecifiedMatching +GARD:19222 Heavy chain deposition disease skos:exactMatch Orphanet:93556 semapv:UnspecifiedMatching +GARD:19223 Light and heavy chain deposition disease skos:exactMatch Orphanet:93557 semapv:UnspecifiedMatching +GARD:19224 AApoAI amyloidosis skos:exactMatch Orphanet:93560 semapv:UnspecifiedMatching +GARD:19225 ALys amyloidosis skos:exactMatch Orphanet:93561 semapv:UnspecifiedMatching +GARD:19226 AFib amyloidosis skos:exactMatch Orphanet:93562 semapv:UnspecifiedMatching +GARD:19227 Thrombotic microangiopathy skos:exactMatch Orphanet:93573 semapv:UnspecifiedMatching +GARD:19228 Genetic cystic renal disease skos:exactMatch Orphanet:93587 semapv:UnspecifiedMatching +GARD:19229 Nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 semapv:UnspecifiedMatching +GARD:19230 Rare renal tubular disease skos:exactMatch Orphanet:93603 semapv:UnspecifiedMatching +GARD:19231 Hematological disorder with renal involvement skos:exactMatch Orphanet:93614 semapv:UnspecifiedMatching +GARD:19232 Rare cause of hypertension skos:exactMatch Orphanet:93618 semapv:UnspecifiedMatching +GARD:19233 Rare renal tumor skos:exactMatch Orphanet:93619 semapv:UnspecifiedMatching +GARD:19234 Autoinflammatory syndrome skos:exactMatch Orphanet:93665 semapv:UnspecifiedMatching +GARD:19235 Isolated epispadias skos:exactMatch Orphanet:93928 semapv:UnspecifiedMatching +GARD:19236 Laryngotracheoesophageal cleft type 1 skos:exactMatch Orphanet:93938 semapv:UnspecifiedMatching +GARD:19237 Laryngotracheoesophageal cleft type 2 skos:exactMatch Orphanet:93939 semapv:UnspecifiedMatching +GARD:19238 Laryngotracheoesophageal cleft type 4 skos:exactMatch Orphanet:93941 semapv:UnspecifiedMatching +GARD:19239 X-linked intellectual disability, Porteous type skos:exactMatch Orphanet:93945 semapv:UnspecifiedMatching +GARD:19240 Hamel cerebro-palato-cardiac syndrome skos:exactMatch Orphanet:93946 semapv:UnspecifiedMatching +GARD:19241 X-linked intellectual disability, Golabi-Ito-Hall type skos:exactMatch Orphanet:93947 semapv:UnspecifiedMatching +GARD:19242 X-linked intellectual disability, Sutherland-Haan type skos:exactMatch Orphanet:93950 semapv:UnspecifiedMatching +GARD:19243 Oromandibular dystonia skos:exactMatch Orphanet:93958 semapv:UnspecifiedMatching +GARD:19244 Humero-ulnar synostosis skos:exactMatch Orphanet:94056 semapv:UnspecifiedMatching +GARD:19245 Neovascular glaucoma skos:exactMatch Orphanet:94058 semapv:UnspecifiedMatching +GARD:19246 Uremic pruritus skos:exactMatch Orphanet:94059 semapv:UnspecifiedMatching +GARD:19247 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:exactMatch Orphanet:94066 semapv:UnspecifiedMatching +GARD:19248 Non-functioning paraganglioma skos:exactMatch Orphanet:94080 semapv:UnspecifiedMatching +GARD:19249 Cytophagic histiocytic panniculitis skos:exactMatch Orphanet:94087 semapv:UnspecifiedMatching +GARD:19250 Mills syndrome skos:exactMatch Orphanet:94091 semapv:UnspecifiedMatching +GARD:19251 Recessive mitochondrial ataxia syndrome skos:exactMatch Orphanet:94125 semapv:UnspecifiedMatching +GARD:19252 Autosomal dominant cerebellar ataxia type I skos:exactMatch Orphanet:94145 semapv:UnspecifiedMatching +GARD:19253 Autosomal dominant cerebellar ataxia type III skos:exactMatch Orphanet:94148 semapv:UnspecifiedMatching +GARD:19254 Autosomal dominant cerebellar ataxia type IV skos:exactMatch Orphanet:94149 semapv:UnspecifiedMatching +GARD:19255 Acute hepatic porphyria skos:exactMatch Orphanet:95157 semapv:UnspecifiedMatching +GARD:19256 Chronic hepatic porphyria skos:exactMatch Orphanet:95161 semapv:UnspecifiedMatching +GARD:19257 Acute adrenal insufficiency skos:exactMatch Orphanet:95409 semapv:UnspecifiedMatching +GARD:19258 Secondary short bowel syndrome skos:exactMatch Orphanet:95427 semapv:UnspecifiedMatching +GARD:19259 Mesocardia skos:exactMatch Orphanet:95443 semapv:UnspecifiedMatching +GARD:19260 Congenital aortic valve atresia skos:exactMatch Orphanet:95448 semapv:UnspecifiedMatching +GARD:19261 Tricuspid valve agenesis skos:exactMatch Orphanet:95457 semapv:UnspecifiedMatching +GARD:19262 Congenital tricuspid stenosis skos:exactMatch Orphanet:95459 semapv:UnspecifiedMatching +GARD:19263 Straddling or overriding tricuspid valve skos:exactMatch Orphanet:95461 semapv:UnspecifiedMatching +GARD:19264 Accessory tricuspid valve tissue skos:exactMatch Orphanet:95462 semapv:UnspecifiedMatching +GARD:19265 Anomaly of the tricuspid subvalvular apparatus skos:exactMatch Orphanet:95463 semapv:UnspecifiedMatching +GARD:19266 Congenital mitral valve insufficiency and/or stenosis skos:exactMatch Orphanet:95464 semapv:UnspecifiedMatching +GARD:19267 Cleft mitral valve skos:exactMatch Orphanet:95465 semapv:UnspecifiedMatching +GARD:19268 Double-orifice mitral valve skos:exactMatch Orphanet:95474 semapv:UnspecifiedMatching +GARD:19269 Univentricular cardiopathy skos:exactMatch Orphanet:95483 semapv:UnspecifiedMatching +GARD:19270 Arterial duct anomaly skos:exactMatch Orphanet:95485 semapv:UnspecifiedMatching +GARD:19271 Premature closure of the arterial duct skos:exactMatch Orphanet:95486 semapv:UnspecifiedMatching +GARD:19272 Non-acquired pituitary hormone deficiency skos:exactMatch Orphanet:95488 semapv:UnspecifiedMatching +GARD:19273 Congenital coronary artery aneurysm skos:exactMatch Orphanet:95491 semapv:UnspecifiedMatching +GARD:19274 Disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 semapv:UnspecifiedMatching +GARD:19275 Congenital anomaly of superior vena cava skos:exactMatch Orphanet:95498 semapv:UnspecifiedMatching +GARD:19276 Congenital anomaly of the inferior vena cava skos:exactMatch Orphanet:95499 semapv:UnspecifiedMatching +GARD:19277 Congenital anomaly of the coronary sinus skos:exactMatch Orphanet:95500 semapv:UnspecifiedMatching +GARD:19278 Acquired pituitary hormone deficiency skos:exactMatch Orphanet:95502 semapv:UnspecifiedMatching +GARD:19279 Pituitary hormone deficiency of tumoral origin skos:exactMatch Orphanet:95503 semapv:UnspecifiedMatching +GARD:19280 Pituitary hormone deficiency of meningeal origin skos:exactMatch Orphanet:95505 semapv:UnspecifiedMatching +GARD:19281 Primary hypophysitis skos:exactMatch Orphanet:95506 semapv:UnspecifiedMatching +GARD:19282 Congenital anomaly of hepatic vein skos:exactMatch Orphanet:95507 semapv:UnspecifiedMatching +GARD:19283 Atrial appendage anomaly skos:exactMatch Orphanet:95510 semapv:UnspecifiedMatching +GARD:19284 Adenohypophysitis skos:exactMatch Orphanet:95512 semapv:UnspecifiedMatching +GARD:19285 Panhypophysitis skos:exactMatch Orphanet:95513 semapv:UnspecifiedMatching +GARD:19286 Pituitary hormone deficiency of vascular origin skos:exactMatch Orphanet:95611 semapv:UnspecifiedMatching +GARD:19287 Pituitary apoplexy skos:exactMatch Orphanet:95613 semapv:UnspecifiedMatching +GARD:19288 Pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 semapv:UnspecifiedMatching +GARD:19289 Pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 semapv:UnspecifiedMatching +GARD:19290 Post-traumatic pituitary deficiency skos:exactMatch Orphanet:95619 semapv:UnspecifiedMatching +GARD:19291 Acquired central diabetes insipidus skos:exactMatch Orphanet:95626 semapv:UnspecifiedMatching +GARD:19292 Idiopathic isolated micropenis skos:exactMatch Orphanet:95707 semapv:UnspecifiedMatching +GARD:19293 Acquired premature ovarian failure skos:exactMatch Orphanet:95709 semapv:UnspecifiedMatching +GARD:19294 Non-acquired premature ovarian failure skos:exactMatch Orphanet:95710 semapv:UnspecifiedMatching +GARD:19295 Congenital hypothyroidism due to developmental anomaly skos:exactMatch Orphanet:95711 semapv:UnspecifiedMatching +GARD:19296 Primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 semapv:UnspecifiedMatching +GARD:19297 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies skos:exactMatch Orphanet:95715 semapv:UnspecifiedMatching +GARD:19298 Idiopathic congenital hypothyroidism skos:exactMatch Orphanet:95717 semapv:UnspecifiedMatching +GARD:19299 Congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 semapv:UnspecifiedMatching +GARD:193 Opitz GBBB syndrome skos:exactMatch Orphanet:2745 semapv:UnspecifiedMatching +GARD:193 Opitz GBBB syndrome skos:narrowMatch OMIM:300000 semapv:UnspecifiedMatching +GARD:19300 Mosaic trisomy 4 skos:exactMatch Orphanet:96059 semapv:UnspecifiedMatching +GARD:19301 Mosaic trisomy 5 skos:exactMatch Orphanet:96060 semapv:UnspecifiedMatching +GARD:19302 Mosaic trisomy 10 skos:exactMatch Orphanet:96063 semapv:UnspecifiedMatching +GARD:19303 Distal trisomy 1p36 skos:exactMatch Orphanet:96069 semapv:UnspecifiedMatching +GARD:19304 Distal trisomy 2p skos:exactMatch Orphanet:96070 semapv:UnspecifiedMatching +GARD:19305 Distal trisomy 3p skos:exactMatch Orphanet:96071 semapv:UnspecifiedMatching +GARD:19306 4p16.3 microduplication syndrome skos:exactMatch Orphanet:96072 semapv:UnspecifiedMatching +GARD:19307 Distal trisomy 7p skos:exactMatch Orphanet:96074 semapv:UnspecifiedMatching +GARD:19308 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:exactMatch Orphanet:96076 semapv:UnspecifiedMatching +GARD:19309 8p inverted duplication/deletion syndrome skos:exactMatch Orphanet:96092 semapv:UnspecifiedMatching +GARD:19310 Distal trisomy 2q skos:exactMatch Orphanet:96094 semapv:UnspecifiedMatching +GARD:19311 3q26 microduplication syndrome skos:exactMatch Orphanet:96095 semapv:UnspecifiedMatching +GARD:19312 Distal trisomy 4q skos:exactMatch Orphanet:96096 semapv:UnspecifiedMatching +GARD:19313 Distal trisomy 5q skos:exactMatch Orphanet:96097 semapv:UnspecifiedMatching +GARD:19314 Distal trisomy 6q skos:exactMatch Orphanet:96098 semapv:UnspecifiedMatching +GARD:19315 Distal trisomy 8q skos:exactMatch Orphanet:96100 semapv:UnspecifiedMatching +GARD:19316 Distal trisomy 9q skos:exactMatch Orphanet:96101 semapv:UnspecifiedMatching +GARD:19317 Distal trisomy 10q skos:exactMatch Orphanet:96102 semapv:UnspecifiedMatching +GARD:19318 Distal trisomy 11q skos:exactMatch Orphanet:96103 semapv:UnspecifiedMatching +GARD:19319 Distal trisomy 13q skos:exactMatch Orphanet:96105 semapv:UnspecifiedMatching +GARD:19320 Distal trisomy 16q skos:exactMatch Orphanet:96106 semapv:UnspecifiedMatching +GARD:19321 Distal trisomy 20q skos:exactMatch Orphanet:96107 semapv:UnspecifiedMatching +GARD:19322 Distal trisomy 22q skos:exactMatch Orphanet:96109 semapv:UnspecifiedMatching +GARD:19323 Non-distal trisomy 9q skos:exactMatch Orphanet:96112 semapv:UnspecifiedMatching +GARD:19324 Monosomy 22 skos:exactMatch Orphanet:96123 semapv:UnspecifiedMatching +GARD:19325 Distal monosomy 7p skos:exactMatch Orphanet:96126 semapv:UnspecifiedMatching +GARD:19326 Distal monosomy 19p13.3 skos:exactMatch Orphanet:96129 semapv:UnspecifiedMatching +GARD:19327 Distal monosomy 4q skos:exactMatch Orphanet:96145 semapv:UnspecifiedMatching +GARD:19328 Distal monosomy 12q skos:exactMatch Orphanet:96149 semapv:UnspecifiedMatching +GARD:19329 Distal monosomy 14q skos:exactMatch Orphanet:96150 semapv:UnspecifiedMatching +GARD:19330 Non-distal monosomy 12q skos:exactMatch Orphanet:96160 semapv:UnspecifiedMatching +GARD:19331 Maternal uniparental disomy of chromosome 2 skos:exactMatch Orphanet:96179 semapv:UnspecifiedMatching +GARD:19332 Maternal uniparental disomy of chromosome 4 skos:exactMatch Orphanet:96180 semapv:UnspecifiedMatching +GARD:19333 Maternal uniparental disomy of chromosome 6 skos:exactMatch Orphanet:96181 semapv:UnspecifiedMatching +GARD:19334 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:exactMatch Orphanet:96182 semapv:UnspecifiedMatching +GARD:19335 Maternal uniparental disomy of chromosome 9 skos:exactMatch Orphanet:96183 semapv:UnspecifiedMatching +GARD:19336 Maternal uniparental disomy of chromosome 16 skos:exactMatch Orphanet:96185 semapv:UnspecifiedMatching +GARD:19337 Maternal uniparental disomy of chromosome 21 skos:exactMatch Orphanet:96187 semapv:UnspecifiedMatching +GARD:19338 Maternal uniparental disomy of chromosome 22 skos:exactMatch Orphanet:96188 semapv:UnspecifiedMatching +GARD:19339 Paternal uniparental disomy of chromosome 5 skos:exactMatch Orphanet:96190 semapv:UnspecifiedMatching +GARD:19340 Paternal uniparental disomy of chromosome 6 skos:exactMatch Orphanet:96191 semapv:UnspecifiedMatching +GARD:19341 Paternal uniparental disomy of chromosome 7 skos:exactMatch Orphanet:96192 semapv:UnspecifiedMatching +GARD:19342 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:exactMatch Orphanet:96193 semapv:UnspecifiedMatching +GARD:19343 Paternal uniparental disomy of chromosome 20 skos:exactMatch Orphanet:96194 semapv:UnspecifiedMatching +GARD:19344 Paternal uniparental disomy of chromosome 21 skos:exactMatch Orphanet:96195 semapv:UnspecifiedMatching +GARD:19345 X small rings skos:exactMatch Orphanet:96201 semapv:UnspecifiedMatching +GARD:19346 Rare genetic deafness skos:exactMatch Orphanet:96210 semapv:UnspecifiedMatching +GARD:19347 Isolated partial vaginal agenesis skos:exactMatch Orphanet:96269 semapv:UnspecifiedMatching +GARD:19348 Polyploidy skos:exactMatch Orphanet:96321 semapv:UnspecifiedMatching +GARD:19349 Isochromosome Y skos:exactMatch Orphanet:96325 semapv:UnspecifiedMatching +GARD:19350 Rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 semapv:UnspecifiedMatching +GARD:19351 Anorectal malformation skos:exactMatch Orphanet:96346 semapv:UnspecifiedMatching +GARD:19352 Early-onset schizophrenia skos:exactMatch Orphanet:96369 semapv:UnspecifiedMatching +GARD:19353 Solar urticaria skos:exactMatch Orphanet:97230 semapv:UnspecifiedMatching +GARD:19354 Zebra body myopathy skos:exactMatch Orphanet:97240 semapv:UnspecifiedMatching +GARD:19355 Mega-cisterna magna skos:exactMatch Orphanet:97252 semapv:UnspecifiedMatching +GARD:19356 GRFoma skos:exactMatch Orphanet:97261 semapv:UnspecifiedMatching +GARD:19357 Encephalitis skos:exactMatch Orphanet:97275 semapv:UnspecifiedMatching +GARD:19358 PPoma skos:exactMatch Orphanet:97278 semapv:UnspecifiedMatching +GARD:19359 Thyroid lymphoma skos:exactMatch Orphanet:97285 semapv:UnspecifiedMatching +GARD:19360 Bronchial neuroendocrine tumor skos:exactMatch Orphanet:97287 semapv:UnspecifiedMatching +GARD:19361 Thymic neuroendocrine tumor skos:exactMatch Orphanet:97289 semapv:UnspecifiedMatching +GARD:19362 Cardiogenic shock skos:exactMatch Orphanet:97292 semapv:UnspecifiedMatching +GARD:19363 Rare benign ovarian tumor skos:exactMatch Orphanet:97293 semapv:UnspecifiedMatching +GARD:19364 Osgood-Schlatter disease skos:exactMatch Orphanet:97335 semapv:UnspecifiedMatching +GARD:19365 Panner disease skos:exactMatch Orphanet:97336 semapv:UnspecifiedMatching +GARD:19366 Sinding-Larsen-Johansson disease skos:exactMatch Orphanet:97337 semapv:UnspecifiedMatching +GARD:19367 Melanoma of soft tissue skos:exactMatch Orphanet:97338 semapv:UnspecifiedMatching +GARD:19368 Dural sinus malformation skos:exactMatch Orphanet:97339 semapv:UnspecifiedMatching +GARD:19369 Persistent placoid maculopathy skos:exactMatch Orphanet:97341 semapv:UnspecifiedMatching +GARD:19370 Postencephalitic parkinsonism skos:exactMatch Orphanet:97349 semapv:UnspecifiedMatching +GARD:19371 Dementia pugilistica skos:exactMatch Orphanet:97353 semapv:UnspecifiedMatching +GARD:19372 Caribbean parkinsonism skos:exactMatch Orphanet:97355 semapv:UnspecifiedMatching +GARD:19373 Renal hypoplasia, unilateral skos:exactMatch Orphanet:97361 semapv:UnspecifiedMatching +GARD:19374 Renal hypoplasia, bilateral skos:exactMatch Orphanet:97362 semapv:UnspecifiedMatching +GARD:19375 Unilateral multicystic dysplastic kidney skos:exactMatch Orphanet:97363 semapv:UnspecifiedMatching +GARD:19376 Multiloculated renal cyst skos:exactMatch Orphanet:97366 semapv:UnspecifiedMatching +GARD:19377 Renal tubular dysgenesis due to twin-twin transfusion skos:exactMatch Orphanet:97367 semapv:UnspecifiedMatching +GARD:19378 Drug-related renal tubular dysgenesis skos:exactMatch Orphanet:97368 semapv:UnspecifiedMatching +GARD:19379 Pauci-immune glomerulonephritis with ANCA skos:exactMatch Orphanet:97563 semapv:UnspecifiedMatching +GARD:19380 Pauci-immune glomerulonephritis without ANCA skos:exactMatch Orphanet:97564 semapv:UnspecifiedMatching +GARD:19381 Congenital renal artery stenosis skos:exactMatch Orphanet:97598 semapv:UnspecifiedMatching +GARD:19382 Maternal uniparental disomy of chromosome 13 skos:exactMatch Orphanet:97678 semapv:UnspecifiedMatching +GARD:19383 Gastroduodenal malformation skos:exactMatch Orphanet:97944 semapv:UnspecifiedMatching +GARD:19384 Intestinal malformation skos:exactMatch Orphanet:97945 semapv:UnspecifiedMatching +GARD:19385 Respiratory or thoracic malformation skos:exactMatch Orphanet:97957 semapv:UnspecifiedMatching +GARD:19386 Infectious disease of the nervous system skos:exactMatch Orphanet:98010 semapv:UnspecifiedMatching +GARD:19387 Rare headache skos:exactMatch Orphanet:98022 semapv:UnspecifiedMatching +GARD:19388 Rare disease with odontological manifestation skos:exactMatch Orphanet:98027 semapv:UnspecifiedMatching +GARD:19389 Rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 semapv:UnspecifiedMatching +GARD:19390 Cranial malformation skos:exactMatch Orphanet:98038 semapv:UnspecifiedMatching +GARD:19391 Digestive tract malformation skos:exactMatch Orphanet:98039 semapv:UnspecifiedMatching +GARD:19392 Visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 semapv:UnspecifiedMatching +GARD:19393 Diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 semapv:UnspecifiedMatching +GARD:19394 Central nervous system malformation skos:exactMatch Orphanet:98044 semapv:UnspecifiedMatching +GARD:19395 Respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 semapv:UnspecifiedMatching +GARD:19396 Rare male infertility skos:exactMatch Orphanet:98048 semapv:UnspecifiedMatching +GARD:19397 Rare female infertility skos:exactMatch Orphanet:98049 semapv:UnspecifiedMatching +GARD:19398 Rare allergic respiratory disease skos:exactMatch Orphanet:98052 semapv:UnspecifiedMatching +GARD:19399 Rare genetic cardiac disease skos:exactMatch Orphanet:98054 semapv:UnspecifiedMatching +GARD:194 Gamma-aminobutyric acid transaminase deficiency skos:exactMatch Orphanet:2066 semapv:UnspecifiedMatching +GARD:194 Gamma-aminobutyric acid transaminase deficiency skos:narrowMatch OMIM:613163 semapv:UnspecifiedMatching +GARD:19400 Rare genetic renal disease skos:exactMatch Orphanet:98056 semapv:UnspecifiedMatching +GARD:19401 Rare tumor skos:exactMatch Orphanet:98057 semapv:UnspecifiedMatching +GARD:19402 Rare urinary tract tumor skos:exactMatch Orphanet:98058 semapv:UnspecifiedMatching +GARD:19403 Rare digestive tumor skos:exactMatch Orphanet:98059 semapv:UnspecifiedMatching +GARD:19404 Rare respiratory tumor skos:exactMatch Orphanet:98060 semapv:UnspecifiedMatching +GARD:19405 Rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 semapv:UnspecifiedMatching +GARD:19406 Rare nervous system tumor skos:exactMatch Orphanet:98062 semapv:UnspecifiedMatching +GARD:19407 Rare gynecological tumor skos:exactMatch Orphanet:98063 semapv:UnspecifiedMatching +GARD:19408 Gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 semapv:UnspecifiedMatching +GARD:19409 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 semapv:UnspecifiedMatching +GARD:19410 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue skos:exactMatch Orphanet:98086 semapv:UnspecifiedMatching +GARD:19411 Syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 semapv:UnspecifiedMatching +GARD:19412 Autosomal recessive congenital cerebellar ataxia skos:exactMatch Orphanet:98095 semapv:UnspecifiedMatching +GARD:19413 Autosomal recessive metabolic cerebellar ataxia skos:exactMatch Orphanet:98096 semapv:UnspecifiedMatching +GARD:19414 Autosomal recessive cerebellar ataxia due to a DNA repair defect skos:exactMatch Orphanet:98097 semapv:UnspecifiedMatching +GARD:19415 Autosomal recessive degenerative and progressive cerebellar ataxia skos:exactMatch Orphanet:98098 semapv:UnspecifiedMatching +GARD:19416 Autosomal recessive syndromic cerebellar ataxia skos:exactMatch Orphanet:98099 semapv:UnspecifiedMatching +GARD:19417 Autosomal anomaly skos:exactMatch Orphanet:98127 semapv:UnspecifiedMatching +GARD:19418 Autosomal trisomy skos:exactMatch Orphanet:98130 semapv:UnspecifiedMatching +GARD:19419 Total autosomal trisomy skos:exactMatch Orphanet:98131 semapv:UnspecifiedMatching +GARD:19420 Partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 semapv:UnspecifiedMatching +GARD:19421 Total autosomal monosomy skos:exactMatch Orphanet:98141 semapv:UnspecifiedMatching +GARD:19422 Partial autosomal monosomy skos:exactMatch Orphanet:98142 semapv:UnspecifiedMatching +GARD:19423 Autosomal uniparental disomy skos:exactMatch Orphanet:98152 semapv:UnspecifiedMatching +GARD:19424 Maternal uniparental disomy skos:exactMatch Orphanet:98153 semapv:UnspecifiedMatching +GARD:19425 Paternal uniparental disomy skos:exactMatch Orphanet:98154 semapv:UnspecifiedMatching +GARD:19426 Sex-chromosome anomaly skos:exactMatch Orphanet:98155 semapv:UnspecifiedMatching +GARD:19427 Sex-chromosome number anomaly skos:exactMatch Orphanet:98156 semapv:UnspecifiedMatching +GARD:19428 Sex-chromosome structural anomaly skos:exactMatch Orphanet:98157 semapv:UnspecifiedMatching +GARD:19429 Chromosome Y structural anomaly skos:exactMatch Orphanet:98158 semapv:UnspecifiedMatching +GARD:19430 Chromosome X structural anomaly skos:exactMatch Orphanet:98159 semapv:UnspecifiedMatching +GARD:19431 Malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 semapv:UnspecifiedMatching +GARD:19432 Combined dystonia skos:exactMatch Orphanet:98203 semapv:UnspecifiedMatching +GARD:19433 Infectious encephalitis skos:exactMatch Orphanet:98252 semapv:UnspecifiedMatching +GARD:19434 Chronic encephalitis skos:exactMatch Orphanet:98255 semapv:UnspecifiedMatching +GARD:19435 Neonatal epilepsy syndrome skos:exactMatch Orphanet:98257 semapv:UnspecifiedMatching +GARD:19436 Infantile epilepsy syndrome skos:exactMatch Orphanet:98258 semapv:UnspecifiedMatching +GARD:19437 Childhood-onset epilepsy syndrome skos:exactMatch Orphanet:98259 semapv:UnspecifiedMatching +GARD:19438 Adolescent-onset epilepsy syndrome skos:exactMatch Orphanet:98260 semapv:UnspecifiedMatching +GARD:19439 Genetic non-syndromic obesity skos:exactMatch Orphanet:98267 semapv:UnspecifiedMatching +GARD:19440 Plasma cell tumor skos:exactMatch Orphanet:98282 semapv:UnspecifiedMatching +GARD:19441 Histiocytic and dendritic cell tumor skos:exactMatch Orphanet:98287 semapv:UnspecifiedMatching +GARD:19442 Macrophage or histiocytic tumor skos:exactMatch Orphanet:98288 semapv:UnspecifiedMatching +GARD:19443 Immunodeficiency-associated lymphoproliferative disease skos:exactMatch Orphanet:98290 semapv:UnspecifiedMatching +GARD:19444 Laminopathy skos:exactMatch Orphanet:98301 semapv:UnspecifiedMatching +GARD:19445 Male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 semapv:UnspecifiedMatching +GARD:19446 Male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 semapv:UnspecifiedMatching +GARD:19447 Autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 semapv:UnspecifiedMatching +GARD:19448 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 semapv:UnspecifiedMatching +GARD:19449 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 semapv:UnspecifiedMatching +GARD:19450 Autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 semapv:UnspecifiedMatching +GARD:19451 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 semapv:UnspecifiedMatching +GARD:19452 Constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 semapv:UnspecifiedMatching +GARD:19453 Constitutional sideroblastic anemia skos:exactMatch Orphanet:98362 semapv:UnspecifiedMatching +GARD:19454 Rare hemolytic anemia skos:exactMatch Orphanet:98363 semapv:UnspecifiedMatching +GARD:19455 Rare constitutional hemolytic anemia due to a red cell membrane anomaly skos:exactMatch Orphanet:98364 semapv:UnspecifiedMatching +GARD:19456 Hereditary stomatocytosis skos:exactMatch Orphanet:98365 semapv:UnspecifiedMatching +GARD:19457 Constitutional hemolytic anemia due to acanthocytosis skos:exactMatch Orphanet:98366 semapv:UnspecifiedMatching +GARD:19458 Rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 semapv:UnspecifiedMatching +GARD:19459 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 semapv:UnspecifiedMatching +GARD:19460 Hemolytic anemia due to a disorder of glycolytic enzymes skos:exactMatch Orphanet:98372 semapv:UnspecifiedMatching +GARD:19461 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder skos:exactMatch Orphanet:98374 semapv:UnspecifiedMatching +GARD:19462 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 semapv:UnspecifiedMatching +GARD:19463 Constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 semapv:UnspecifiedMatching +GARD:19464 Vitamin B12- and folate-independent constitutional megaloblastic anemia skos:exactMatch Orphanet:98415 semapv:UnspecifiedMatching +GARD:19465 Primary acquired red cell aplasia skos:exactMatch Orphanet:98421 semapv:UnspecifiedMatching +GARD:19466 Polycythemia skos:exactMatch Orphanet:98427 semapv:UnspecifiedMatching +GARD:19467 Secondary polycythemia skos:exactMatch Orphanet:98428 semapv:UnspecifiedMatching +GARD:19468 Rare coagulation disorder skos:exactMatch Orphanet:98429 semapv:UnspecifiedMatching +GARD:19469 Alpha granule disease skos:exactMatch Orphanet:98455 semapv:UnspecifiedMatching +GARD:19470 Dense granule disease skos:exactMatch Orphanet:98456 semapv:UnspecifiedMatching +GARD:19471 Skeletal muscle disease skos:exactMatch Orphanet:98472 semapv:UnspecifiedMatching +GARD:19472 Metabolic myopathy skos:exactMatch Orphanet:98486 semapv:UnspecifiedMatching +GARD:19473 Neuromuscular junction disease skos:exactMatch Orphanet:98491 semapv:UnspecifiedMatching +GARD:19474 Acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 semapv:UnspecifiedMatching +GARD:19475 Genetic neuromuscular junction disease skos:exactMatch Orphanet:98495 semapv:UnspecifiedMatching +GARD:19476 Rare peripheral neuropathy skos:exactMatch Orphanet:98496 semapv:UnspecifiedMatching +GARD:19477 Motor neuron disease skos:exactMatch Orphanet:98503 semapv:UnspecifiedMatching +GARD:19478 Genetic motor neuron disease skos:exactMatch Orphanet:98505 semapv:UnspecifiedMatching +GARD:19479 Acquired motor neuron disease skos:exactMatch Orphanet:98506 semapv:UnspecifiedMatching +GARD:19480 Malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 semapv:UnspecifiedMatching +GARD:19481 Malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 semapv:UnspecifiedMatching +GARD:19482 Cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 semapv:UnspecifiedMatching +GARD:19483 Posterior fossa malformation skos:exactMatch Orphanet:98519 semapv:UnspecifiedMatching +GARD:19484 Neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 semapv:UnspecifiedMatching +GARD:19485 Frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 semapv:UnspecifiedMatching +GARD:19486 Ataxia with dementia skos:exactMatch Orphanet:98538 semapv:UnspecifiedMatching +GARD:19487 Early-onset ataxia with dementia skos:exactMatch Orphanet:98539 semapv:UnspecifiedMatching +GARD:19488 Late-onset ataxia with dementia skos:exactMatch Orphanet:98540 semapv:UnspecifiedMatching +GARD:19489 Infectious disease with dementia skos:exactMatch Orphanet:98542 semapv:UnspecifiedMatching +GARD:19490 Metabolic disease with dementia skos:exactMatch Orphanet:98543 semapv:UnspecifiedMatching +GARD:19491 Cerebral lipidosis with dementia skos:exactMatch Orphanet:98544 semapv:UnspecifiedMatching +GARD:19492 Rare cerebrovascular dementia skos:exactMatch Orphanet:98549 semapv:UnspecifiedMatching +GARD:19493 Microphthalmia-anophthalmia-coloboma skos:exactMatch Orphanet:98555 semapv:UnspecifiedMatching +GARD:19494 Syndromic aniridia skos:exactMatch Orphanet:98557 semapv:UnspecifiedMatching +GARD:19495 Rare palpebral disorder skos:exactMatch Orphanet:98560 semapv:UnspecifiedMatching +GARD:19496 Congenital malformation of the eyelid skos:exactMatch Orphanet:98561 semapv:UnspecifiedMatching +GARD:19497 Microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 semapv:UnspecifiedMatching +GARD:19498 Eyelid border anomaly skos:exactMatch Orphanet:98564 semapv:UnspecifiedMatching +GARD:19499 Syndromic ankyloblepharon filiforme adnatum skos:exactMatch Orphanet:98565 semapv:UnspecifiedMatching +GARD:195 Hyperkalemic periodic paralysis skos:exactMatch Orphanet:682 semapv:UnspecifiedMatching +GARD:195 Hyperkalemic periodic paralysis skos:narrowMatch OMIM:170500 semapv:UnspecifiedMatching +GARD:19500 Syndromic eyelid coloboma skos:exactMatch Orphanet:98566 semapv:UnspecifiedMatching +GARD:19501 Rare eyelid malposition disorder skos:exactMatch Orphanet:98567 semapv:UnspecifiedMatching +GARD:19502 Congenital ectropion skos:exactMatch Orphanet:98570 semapv:UnspecifiedMatching +GARD:19503 Secondary ectropion skos:exactMatch Orphanet:98571 semapv:UnspecifiedMatching +GARD:19504 Syndromic epicanthus skos:exactMatch Orphanet:98574 semapv:UnspecifiedMatching +GARD:19505 Syndromic telecanthus skos:exactMatch Orphanet:98575 semapv:UnspecifiedMatching +GARD:19506 Syndromic outer canthal malposition skos:exactMatch Orphanet:98576 semapv:UnspecifiedMatching +GARD:19507 Rare disorder with ptosis skos:exactMatch Orphanet:98578 semapv:UnspecifiedMatching +GARD:19508 Rare eyebrow/eyelash disorder skos:exactMatch Orphanet:98594 semapv:UnspecifiedMatching +GARD:19509 Rare disorder of the lacrimal apparatus skos:exactMatch Orphanet:98602 semapv:UnspecifiedMatching +GARD:19510 Congenital alacrima skos:exactMatch Orphanet:98604 semapv:UnspecifiedMatching +GARD:19511 Lacrimal drainage system anomaly skos:exactMatch Orphanet:98605 semapv:UnspecifiedMatching +GARD:19512 EEC syndrome and related disorders skos:exactMatch Orphanet:98609 semapv:UnspecifiedMatching +GARD:19513 Rare disorder with conjunctival involvement as a major feature skos:exactMatch Orphanet:98610 semapv:UnspecifiedMatching +GARD:19514 Rare refraction anomaly skos:exactMatch Orphanet:98618 semapv:UnspecifiedMatching +GARD:19515 Rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 semapv:UnspecifiedMatching +GARD:19516 Syndromic hyperopia skos:exactMatch Orphanet:98622 semapv:UnspecifiedMatching +GARD:19517 Syndromic keratoconus skos:exactMatch Orphanet:98623 semapv:UnspecifiedMatching +GARD:19518 Superficial corneal dystrophy skos:exactMatch Orphanet:98625 semapv:UnspecifiedMatching +GARD:19519 Stromal corneal dystrophy skos:exactMatch Orphanet:98626 semapv:UnspecifiedMatching +GARD:19520 Posterior corneal dystrophy skos:exactMatch Orphanet:98627 semapv:UnspecifiedMatching +GARD:19521 Syndromic corneal dystrophy skos:exactMatch Orphanet:98628 semapv:UnspecifiedMatching +GARD:19522 Congenital malformation of the eye with glaucoma as a major feature skos:exactMatch Orphanet:98631 semapv:UnspecifiedMatching +GARD:19523 Corneodysgenesis skos:exactMatch Orphanet:98635 semapv:UnspecifiedMatching +GARD:19524 Rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 semapv:UnspecifiedMatching +GARD:19525 Rare lens disease skos:exactMatch Orphanet:98639 semapv:UnspecifiedMatching +GARD:19526 Rare disorder with lens opacification skos:exactMatch Orphanet:98640 semapv:UnspecifiedMatching +GARD:19527 Syndromic cataract skos:exactMatch Orphanet:98641 semapv:UnspecifiedMatching +GARD:19528 Chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 semapv:UnspecifiedMatching +GARD:19529 Metabolic disease with cataract skos:exactMatch Orphanet:98644 semapv:UnspecifiedMatching +GARD:19530 Renal disease with cataract skos:exactMatch Orphanet:98646 semapv:UnspecifiedMatching +GARD:19531 Musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 semapv:UnspecifiedMatching +GARD:19532 Dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 semapv:UnspecifiedMatching +GARD:19533 Craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 semapv:UnspecifiedMatching +GARD:19534 Lens size anomaly skos:exactMatch Orphanet:98652 semapv:UnspecifiedMatching +GARD:19535 Lens position anomaly skos:exactMatch Orphanet:98653 semapv:UnspecifiedMatching +GARD:19536 Lens shape anomaly skos:exactMatch Orphanet:98655 semapv:UnspecifiedMatching +GARD:19537 Color-vision disease skos:exactMatch Orphanet:98658 semapv:UnspecifiedMatching +GARD:19538 Syndromic rod-cone dystrophy skos:exactMatch Orphanet:98661 semapv:UnspecifiedMatching +GARD:19539 Vitreoretinopathy skos:exactMatch Orphanet:98668 semapv:UnspecifiedMatching +GARD:19540 Hereditary optic neuropathy skos:exactMatch Orphanet:98671 semapv:UnspecifiedMatching +GARD:19541 Rare disorder with strabismus skos:exactMatch Orphanet:98681 semapv:UnspecifiedMatching +GARD:19542 Syndromic disorder with strabismus skos:exactMatch Orphanet:98683 semapv:UnspecifiedMatching +GARD:19543 Craniostenosis with strabismus skos:exactMatch Orphanet:98684 semapv:UnspecifiedMatching +GARD:19544 Rare oculomotor nerve disorder skos:exactMatch Orphanet:98685 semapv:UnspecifiedMatching +GARD:19545 Congenital trochlear nerve palsy skos:exactMatch Orphanet:98686 semapv:UnspecifiedMatching +GARD:19546 Supranuclear eye movement disorder skos:exactMatch Orphanet:98687 semapv:UnspecifiedMatching +GARD:19547 Oculomotor apraxia skos:exactMatch Orphanet:98688 semapv:UnspecifiedMatching +GARD:19548 Oculocutaneous or ocular albinism skos:exactMatch Orphanet:98706 semapv:UnspecifiedMatching +GARD:19549 Uveitis skos:exactMatch Orphanet:98715 semapv:UnspecifiedMatching +GARD:19550 Heart position anomaly skos:exactMatch Orphanet:98716 semapv:UnspecifiedMatching +GARD:19551 Transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 semapv:UnspecifiedMatching +GARD:19552 Aortic malformation skos:exactMatch Orphanet:98718 semapv:UnspecifiedMatching +GARD:19553 Pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 semapv:UnspecifiedMatching +GARD:19554 Atrioventricular valve anomaly skos:exactMatch Orphanet:98720 semapv:UnspecifiedMatching +GARD:19555 Congenital tricuspid malformation skos:exactMatch Orphanet:98721 semapv:UnspecifiedMatching +GARD:19556 Congenital anomaly of the great arteries skos:exactMatch Orphanet:98724 semapv:UnspecifiedMatching +GARD:19557 Ascending aorta anomaly skos:exactMatch Orphanet:98725 semapv:UnspecifiedMatching +GARD:19558 Rare atrial defect and interatrial communication skos:exactMatch Orphanet:98727 semapv:UnspecifiedMatching +GARD:19559 Congenital pulmonary veins anomaly skos:exactMatch Orphanet:98729 semapv:UnspecifiedMatching +GARD:19560 Congenital arteriovenous fistula skos:exactMatch Orphanet:98731 semapv:UnspecifiedMatching +GARD:19561 Noonan syndrome and Noonan-related syndrome skos:exactMatch Orphanet:98733 semapv:UnspecifiedMatching +GARD:19562 Genetic neurological muscular channelopathy skos:exactMatch Orphanet:98737 semapv:UnspecifiedMatching +GARD:19563 Neurological muscular channelopathy due to a genetic sodium channel defect skos:exactMatch Orphanet:98738 semapv:UnspecifiedMatching +GARD:19564 Neurological muscular channelopathy due to a genetic chloride channel defect skos:exactMatch Orphanet:98739 semapv:UnspecifiedMatching +GARD:19565 Neurological muscular channelopathy due to a genetic calcium channel defect skos:exactMatch Orphanet:98740 semapv:UnspecifiedMatching +GARD:19566 Neurological muscular channelopathy due to a genetic potassium channel defect skos:exactMatch Orphanet:98741 semapv:UnspecifiedMatching +GARD:19567 Neurological muscular channelopathy due to a genetic ryanodine receptor defect skos:exactMatch Orphanet:98742 semapv:UnspecifiedMatching +GARD:19568 Genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 semapv:UnspecifiedMatching +GARD:19569 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect skos:exactMatch Orphanet:98744 semapv:UnspecifiedMatching +GARD:19570 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect skos:exactMatch Orphanet:98745 semapv:UnspecifiedMatching +GARD:19571 Neurological channelopathy of the central nervous system due to a genetic potassium channel defect skos:exactMatch Orphanet:98746 semapv:UnspecifiedMatching +GARD:19572 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect skos:exactMatch Orphanet:98747 semapv:UnspecifiedMatching +GARD:19573 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect skos:exactMatch Orphanet:98748 semapv:UnspecifiedMatching +GARD:19574 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect skos:exactMatch Orphanet:98749 semapv:UnspecifiedMatching +GARD:19575 Autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 semapv:UnspecifiedMatching +GARD:19576 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:exactMatch Orphanet:98793 semapv:UnspecifiedMatching +GARD:19577 Angelman syndrome due to maternal 15q11q13 deletion skos:exactMatch Orphanet:98794 semapv:UnspecifiedMatching +GARD:19578 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:exactMatch Orphanet:98795 semapv:UnspecifiedMatching +GARD:19579 Isochromosomy Yp skos:exactMatch Orphanet:98797 semapv:UnspecifiedMatching +GARD:19580 Isochromosomy Yq skos:exactMatch Orphanet:98798 semapv:UnspecifiedMatching +GARD:19581 Benign childhood occipital epilepsy, Panayiotopoulos type skos:exactMatch Orphanet:98815 semapv:UnspecifiedMatching +GARD:19582 Benign childhood occipital epilepsy, Gastaut type skos:exactMatch Orphanet:98816 semapv:UnspecifiedMatching +GARD:19583 Atypical chronic myeloid leukemia skos:exactMatch Orphanet:98824 semapv:UnspecifiedMatching +GARD:19584 Unclassified myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98825 semapv:UnspecifiedMatching +GARD:19585 Refractory anemia skos:exactMatch Orphanet:98826 semapv:UnspecifiedMatching +GARD:19586 Unclassified myelodysplastic syndrome skos:exactMatch Orphanet:98827 semapv:UnspecifiedMatching +GARD:19587 Acute myeloid leukemia with 11q23 abnormalities skos:exactMatch Orphanet:98831 semapv:UnspecifiedMatching +GARD:19588 Acute myeloid leukemia with minimal differentiation skos:exactMatch Orphanet:98832 semapv:UnspecifiedMatching +GARD:19589 Primary mediastinal large B-cell lymphoma skos:exactMatch Orphanet:98838 semapv:UnspecifiedMatching +GARD:19590 Intravascular large B-cell lymphoma skos:exactMatch Orphanet:98839 semapv:UnspecifiedMatching +GARD:19591 Classic Hodgkin lymphoma, nodular sclerosis type skos:exactMatch Orphanet:98843 semapv:UnspecifiedMatching +GARD:19592 Classic Hodgkin lymphoma, mixed cellularity type skos:exactMatch Orphanet:98844 semapv:UnspecifiedMatching +GARD:19593 Classic Hodgkin lymphoma, lymphocyte-rich type skos:exactMatch Orphanet:98845 semapv:UnspecifiedMatching +GARD:19594 Classic Hodgkin lymphoma, lymphocyte-depleted type skos:exactMatch Orphanet:98846 semapv:UnspecifiedMatching +GARD:19595 Indolent systemic mastocytosis skos:exactMatch Orphanet:98848 semapv:UnspecifiedMatching +GARD:19596 Systemic mastocytosis with associated hematologic neoplasm skos:exactMatch Orphanet:98849 semapv:UnspecifiedMatching +GARD:19597 Aggressive systemic mastocytosis skos:exactMatch Orphanet:98850 semapv:UnspecifiedMatching +GARD:19598 Mast cell leukemia skos:exactMatch Orphanet:98851 semapv:UnspecifiedMatching +GARD:19599 X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 semapv:UnspecifiedMatching +GARD:19600 Alpha-crystallinopathy skos:exactMatch Orphanet:98910 semapv:UnspecifiedMatching +GARD:19601 Acute motor and sensory axonal neuropathy skos:exactMatch Orphanet:98917 semapv:UnspecifiedMatching +GARD:19602 Acute motor axonal neuropathy skos:exactMatch Orphanet:98918 semapv:UnspecifiedMatching +GARD:19603 Blake pouch cyst skos:exactMatch Orphanet:98922 semapv:UnspecifiedMatching +GARD:19604 Multiple system atrophy, parkinsonian type skos:exactMatch Orphanet:98933 semapv:UnspecifiedMatching +GARD:19605 Coloboma of eyelid skos:exactMatch Orphanet:98946 semapv:UnspecifiedMatching +GARD:19606 Congenital symblepharon skos:exactMatch Orphanet:98948 semapv:UnspecifiedMatching +GARD:19607 Partial cryptophthalmia skos:exactMatch Orphanet:98950 semapv:UnspecifiedMatching +GARD:19608 Inverse Marcus-Gunn phenomenon skos:exactMatch Orphanet:98951 semapv:UnspecifiedMatching +GARD:19609 Climatic droplet keratopathy skos:exactMatch Orphanet:98958 semapv:UnspecifiedMatching +GARD:19610 Congenital hereditary endothelial dystrophy type I skos:exactMatch Orphanet:98975 semapv:UnspecifiedMatching +GARD:19611 Essential iris atrophy skos:exactMatch Orphanet:98981 semapv:UnspecifiedMatching +GARD:19612 Multifocal pattern dystrophy simulating fundus flavimaculatus skos:exactMatch Orphanet:99003 semapv:UnspecifiedMatching +GARD:19613 Fundus pulverulentus skos:exactMatch Orphanet:99004 semapv:UnspecifiedMatching +GARD:19614 Congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch Orphanet:99042 semapv:UnspecifiedMatching +GARD:19615 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:exactMatch Orphanet:99043 semapv:UnspecifiedMatching +GARD:19616 Double outlet right ventricle with subpulmonary ventricular septal defect skos:exactMatch Orphanet:99045 semapv:UnspecifiedMatching +GARD:19617 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:exactMatch Orphanet:99046 semapv:UnspecifiedMatching +GARD:19618 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome skos:exactMatch Orphanet:99048 semapv:UnspecifiedMatching +GARD:19619 Pulmonary artery coming from patent ductus arteriosus skos:exactMatch Orphanet:99049 semapv:UnspecifiedMatching +GARD:19620 Discrete fibromuscular subaortic stenosis skos:exactMatch Orphanet:99052 semapv:UnspecifiedMatching +GARD:19621 Tunnel subaortic stenosis skos:exactMatch Orphanet:99053 semapv:UnspecifiedMatching +GARD:19622 Valvular pulmonary stenosis skos:exactMatch Orphanet:99054 semapv:UnspecifiedMatching +GARD:19623 Congenital anomaly of the tricuspid valve chordae skos:exactMatch Orphanet:99055 semapv:UnspecifiedMatching +GARD:19624 Parachute tricuspid valve skos:exactMatch Orphanet:99056 semapv:UnspecifiedMatching +GARD:19625 Hypoplasia of the mitral valve annulus skos:exactMatch Orphanet:99058 semapv:UnspecifiedMatching +GARD:19626 Congenital supravalvular mitral ring skos:exactMatch Orphanet:99059 semapv:UnspecifiedMatching +GARD:19627 Congenital unguarded mitral orifice skos:exactMatch Orphanet:99060 semapv:UnspecifiedMatching +GARD:19628 Accessory mitral valve tissue skos:exactMatch Orphanet:99061 semapv:UnspecifiedMatching +GARD:19629 Mitral valve agenesis skos:exactMatch Orphanet:99062 semapv:UnspecifiedMatching +GARD:19630 Shone complex skos:exactMatch Orphanet:99063 semapv:UnspecifiedMatching +GARD:19631 Straddling and/or overriding mitral valve skos:exactMatch Orphanet:99064 semapv:UnspecifiedMatching +GARD:19632 Aorto-right ventricular tunnel skos:exactMatch Orphanet:99070 semapv:UnspecifiedMatching +GARD:19633 Aorto-left ventricular tunnel skos:exactMatch Orphanet:99071 semapv:UnspecifiedMatching +GARD:19634 Congenital patent ductus arteriosus aneurysm skos:exactMatch Orphanet:99072 semapv:UnspecifiedMatching +GARD:19635 Encircling double aortic arch skos:exactMatch Orphanet:99075 semapv:UnspecifiedMatching +GARD:19636 Persistent fifth aortic arch skos:exactMatch Orphanet:99076 semapv:UnspecifiedMatching +GARD:19637 Kommerell diverticulum skos:exactMatch Orphanet:99077 semapv:UnspecifiedMatching +GARD:19638 Neuhauser anomaly skos:exactMatch Orphanet:99078 semapv:UnspecifiedMatching +GARD:19639 Cervical aortic arch skos:exactMatch Orphanet:99079 semapv:UnspecifiedMatching +GARD:19640 Right aortic arch skos:exactMatch Orphanet:99081 semapv:UnspecifiedMatching +GARD:19641 Dysphagia lusoria skos:exactMatch Orphanet:99082 semapv:UnspecifiedMatching +GARD:19642 Pulmonary artery hypoplasia skos:exactMatch Orphanet:99083 semapv:UnspecifiedMatching +GARD:19643 Coronary ostial stenosis or atresia skos:exactMatch Orphanet:99087 semapv:UnspecifiedMatching +GARD:19644 Abnormal number of coronary ostia skos:exactMatch Orphanet:99089 semapv:UnspecifiedMatching +GARD:19645 Malposition of a coronary ostium skos:exactMatch Orphanet:99090 semapv:UnspecifiedMatching +GARD:19646 Laubry-Pezzi syndrome skos:exactMatch Orphanet:99094 semapv:UnspecifiedMatching +GARD:19647 Congenital Gerbode defect skos:exactMatch Orphanet:99095 semapv:UnspecifiedMatching +GARD:19648 Juxtaposition of the atrial appendages skos:exactMatch Orphanet:99100 semapv:UnspecifiedMatching +GARD:19649 Ectasia of the right atrial appendage skos:exactMatch Orphanet:99101 semapv:UnspecifiedMatching +GARD:19650 Ectasia of the left atrial appendage skos:exactMatch Orphanet:99102 semapv:UnspecifiedMatching +GARD:19651 Atrial septal aneurysm skos:exactMatch Orphanet:99107 semapv:UnspecifiedMatching +GARD:19652 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium skos:exactMatch Orphanet:99109 semapv:UnspecifiedMatching +GARD:19653 Right superior vena cava connecting to left-sided atrium skos:exactMatch Orphanet:99110 semapv:UnspecifiedMatching +GARD:19654 Persistent left superior vena cava connecting to the roof of left-sided atrium skos:exactMatch Orphanet:99111 semapv:UnspecifiedMatching +GARD:19655 Absence of innominate vein skos:exactMatch Orphanet:99112 semapv:UnspecifiedMatching +GARD:19656 Subaortic course of innominate vein skos:exactMatch Orphanet:99113 semapv:UnspecifiedMatching +GARD:19657 Agenesis of the superior vena cava skos:exactMatch Orphanet:99114 semapv:UnspecifiedMatching +GARD:19658 Coronary sinus stenosis skos:exactMatch Orphanet:99117 semapv:UnspecifiedMatching +GARD:19659 Coronary sinus atresia skos:exactMatch Orphanet:99118 semapv:UnspecifiedMatching +GARD:19660 Right inferior vena cava connecting to left-sided atrium skos:exactMatch Orphanet:99119 semapv:UnspecifiedMatching +GARD:19661 Persistent eustachian valve skos:exactMatch Orphanet:99120 semapv:UnspecifiedMatching +GARD:19662 Azygos continuation of the inferior vena cava skos:exactMatch Orphanet:99121 semapv:UnspecifiedMatching +GARD:19663 Congenital stenosis of the inferior vena cava skos:exactMatch Orphanet:99122 semapv:UnspecifiedMatching +GARD:19664 Inferior vena cava interruption without azygos continuation skos:exactMatch Orphanet:99123 semapv:UnspecifiedMatching +GARD:19665 Congenital partial pulmonary venous return anomaly skos:exactMatch Orphanet:99124 semapv:UnspecifiedMatching +GARD:19666 Congenital complete agenesis of pericardium skos:exactMatch Orphanet:99129 semapv:UnspecifiedMatching +GARD:19667 Congenital partial agenesis of pericardium skos:exactMatch Orphanet:99130 semapv:UnspecifiedMatching +GARD:19668 Pleuro-pericardial cyst skos:exactMatch Orphanet:99131 semapv:UnspecifiedMatching +GARD:19669 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch Orphanet:99138 semapv:UnspecifiedMatching +GARD:19670 Unstable hemoglobin disease skos:exactMatch Orphanet:99139 semapv:UnspecifiedMatching +GARD:19671 Epiblepharon skos:exactMatch Orphanet:99169 semapv:UnspecifiedMatching +GARD:19672 Tarsal kink syndrome skos:exactMatch Orphanet:99170 semapv:UnspecifiedMatching +GARD:19673 Isolated congenital ectropion skos:exactMatch Orphanet:99171 semapv:UnspecifiedMatching +GARD:19674 Euryblepharon skos:exactMatch Orphanet:99172 semapv:UnspecifiedMatching +GARD:19675 Congenital eyelid retraction skos:exactMatch Orphanet:99176 semapv:UnspecifiedMatching +GARD:19676 Monosomy X skos:exactMatch Orphanet:99226 semapv:UnspecifiedMatching +GARD:19677 Mosaic monosomy X skos:exactMatch Orphanet:99228 semapv:UnspecifiedMatching +GARD:19678 Paternal uniparental disomy of chromosome 13 skos:exactMatch Orphanet:99324 semapv:UnspecifiedMatching +GARD:19679 49,XYYYY syndrome skos:exactMatch Orphanet:99330 semapv:UnspecifiedMatching +GARD:19680 Pituitary adenoma skos:exactMatch Orphanet:99408 semapv:UnspecifiedMatching +GARD:19681 Turner syndrome due to structural X chromosome anomalies skos:exactMatch Orphanet:99413 semapv:UnspecifiedMatching +GARD:19682 Cheirospondyloenchondromatosis skos:exactMatch Orphanet:99647 semapv:UnspecifiedMatching +GARD:19683 Dermotrichic syndrome skos:exactMatch Orphanet:99688 semapv:UnspecifiedMatching +GARD:19684 Mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch Orphanet:99701 semapv:UnspecifiedMatching +GARD:19685 Early-onset obesity-hyperphagia-severe developmental delay syndrome skos:exactMatch Orphanet:99704 semapv:UnspecifiedMatching +GARD:19686 Rare familial disorder with hypertrophic cardiomyopathy skos:exactMatch Orphanet:99739 semapv:UnspecifiedMatching +GARD:19687 Bifid uvula skos:exactMatch Orphanet:99771 semapv:UnspecifiedMatching +GARD:19688 Lassa fever skos:exactMatch Orphanet:99824 semapv:UnspecifiedMatching +GARD:19689 Nipah virus disease skos:exactMatch Orphanet:99825 semapv:UnspecifiedMatching +GARD:19690 Crimean-Congo hemorrhagic fever skos:exactMatch Orphanet:99827 semapv:UnspecifiedMatching +GARD:19691 Primary syringomyelia skos:exactMatch Orphanet:99856 semapv:UnspecifiedMatching +GARD:19692 Secondary syringomyelia skos:exactMatch Orphanet:99857 semapv:UnspecifiedMatching +GARD:19693 Idiopathic syringomyelia skos:exactMatch Orphanet:99858 semapv:UnspecifiedMatching +GARD:19694 Precursor T-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99861 semapv:UnspecifiedMatching +GARD:19695 Thymic carcinoma skos:exactMatch Orphanet:99868 semapv:UnspecifiedMatching +GARD:19696 Thymic neuroendocrine carcinoma skos:exactMatch Orphanet:99869 semapv:UnspecifiedMatching +GARD:19697 Acute megakaryoblastic leukemia in Down syndrome skos:exactMatch Orphanet:99887 semapv:UnspecifiedMatching +GARD:19698 Cushing syndrome due to ectopic ACTH secretion skos:exactMatch Orphanet:99889 semapv:UnspecifiedMatching +GARD:19699 ACTH-dependent Cushing syndrome skos:exactMatch Orphanet:99892 semapv:UnspecifiedMatching +GARD:19700 ACTH-independent Cushing syndrome skos:exactMatch Orphanet:99893 semapv:UnspecifiedMatching +GARD:19701 Spirillary rat-bite fever skos:exactMatch Orphanet:99903 semapv:UnspecifiedMatching +GARD:19702 Streptobacillary rat-bite fever skos:exactMatch Orphanet:99905 semapv:UnspecifiedMatching +GARD:19703 House allergic alveolitis skos:exactMatch Orphanet:99907 semapv:UnspecifiedMatching +GARD:19704 Occupational allergic alveolitis skos:exactMatch Orphanet:99909 semapv:UnspecifiedMatching +GARD:19705 Malignant dysgerminomatous germ cell tumor of the ovary skos:exactMatch Orphanet:99912 semapv:UnspecifiedMatching +GARD:19706 Extragonadal non-dysgerminomatous germ cell tumor skos:exactMatch Orphanet:99913 semapv:UnspecifiedMatching +GARD:19707 Maligant granulosa cell tumor of the ovary skos:exactMatch Orphanet:99915 semapv:UnspecifiedMatching +GARD:19708 Theca steroid-producing cell malignant tumor of ovary, not further specified skos:exactMatch Orphanet:99917 semapv:UnspecifiedMatching +GARD:19709 Streptococcal toxic-shock syndrome skos:exactMatch Orphanet:99918 semapv:UnspecifiedMatching +GARD:19710 Staphylococcal toxic-shock syndrome skos:exactMatch Orphanet:99919 semapv:UnspecifiedMatching +GARD:19711 Invasive mole skos:exactMatch Orphanet:99925 semapv:UnspecifiedMatching +GARD:19712 Gestational choriocarcinoma skos:exactMatch Orphanet:99926 semapv:UnspecifiedMatching +GARD:19713 Secondary pulmonary hemosiderosis skos:exactMatch Orphanet:99930 semapv:UnspecifiedMatching +GARD:19714 Heiner syndrome skos:exactMatch Orphanet:99932 semapv:UnspecifiedMatching +GARD:19715 Pleuropulmonary blastoma type 1 skos:exactMatch Orphanet:99933 semapv:UnspecifiedMatching +GARD:19716 Pleuropulmonary blastoma type 2 skos:exactMatch Orphanet:99934 semapv:UnspecifiedMatching +GARD:19717 Pleuropulmonary blastoma type 3 skos:exactMatch Orphanet:99935 semapv:UnspecifiedMatching +GARD:19718 O'Sullivan-McLeod syndrome skos:exactMatch Orphanet:99965 semapv:UnspecifiedMatching +GARD:19719 Pleomorphic liposarcoma skos:exactMatch Orphanet:99969 semapv:UnspecifiedMatching +GARD:19720 Dedifferentiated liposarcoma skos:exactMatch Orphanet:99970 semapv:UnspecifiedMatching +GARD:19721 Well-differentiated liposarcoma skos:exactMatch Orphanet:99971 semapv:UnspecifiedMatching +GARD:19722 Apnea of prematurity skos:exactMatch Orphanet:99981 semapv:UnspecifiedMatching +GARD:19723 Cutaneous myiasis skos:exactMatch Orphanet:99983 semapv:UnspecifiedMatching +GARD:19724 Intermediate DEND syndrome skos:exactMatch Orphanet:99989 semapv:UnspecifiedMatching +GARD:19725 Brill-Zinsser disease skos:exactMatch Orphanet:99990 semapv:UnspecifiedMatching +GARD:19726 Relapsing epidemic typhus skos:exactMatch Orphanet:99991 semapv:UnspecifiedMatching +GARD:19727 Complex regional pain syndrome type 2 skos:exactMatch Orphanet:99994 semapv:UnspecifiedMatching +GARD:19728 Reticular perineurioma skos:exactMatch Orphanet:100000 semapv:UnspecifiedMatching +GARD:19729 Sclerosing perineurioma skos:exactMatch Orphanet:100001 semapv:UnspecifiedMatching +GARD:19730 Extraneural perineurioma skos:exactMatch Orphanet:100002 semapv:UnspecifiedMatching +GARD:19731 Lissencephaly with cerebellar hypoplasia type A skos:exactMatch Orphanet:100011 semapv:UnspecifiedMatching +GARD:19732 Lissencephaly with cerebellar hypoplasia type B skos:exactMatch Orphanet:100012 semapv:UnspecifiedMatching +GARD:19733 Lissencephaly with cerebellar hypoplasia type C skos:exactMatch Orphanet:100013 semapv:UnspecifiedMatching +GARD:19734 Lissencephaly with cerebellar hypoplasia type D skos:exactMatch Orphanet:100014 semapv:UnspecifiedMatching +GARD:19735 Lissencephaly with cerebellar hypoplasia type E skos:exactMatch Orphanet:100015 semapv:UnspecifiedMatching +GARD:19736 Lissencephaly with cerebellar hypoplasia type F skos:exactMatch Orphanet:100016 semapv:UnspecifiedMatching +GARD:19737 Refractory anemia with excess blasts type 1 skos:exactMatch Orphanet:100019 semapv:UnspecifiedMatching +GARD:19738 Refractory anemia with excess blasts type 2 skos:exactMatch Orphanet:100020 semapv:UnspecifiedMatching +GARD:19739 Primary plasmacytoma of the bone skos:exactMatch Orphanet:100021 semapv:UnspecifiedMatching +GARD:19740 Extramedullary soft tissue plasmacytoma skos:exactMatch Orphanet:100022 semapv:UnspecifiedMatching +GARD:19741 Mu-heavy chain disease skos:exactMatch Orphanet:100024 semapv:UnspecifiedMatching +GARD:19742 Alpha-heavy chain disease skos:exactMatch Orphanet:100025 semapv:UnspecifiedMatching +GARD:19743 Solitary necrotic nodule of the liver skos:exactMatch Orphanet:100035 semapv:UnspecifiedMatching +GARD:19744 Esophageal duplication cyst skos:exactMatch Orphanet:100047 semapv:UnspecifiedMatching +GARD:19745 Tubular duplication of the esophagus skos:exactMatch Orphanet:100048 semapv:UnspecifiedMatching +GARD:19746 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies skos:exactMatch Orphanet:100049 semapv:UnspecifiedMatching +GARD:19747 Acquired angioedema type 2 skos:exactMatch Orphanet:100055 semapv:UnspecifiedMatching +GARD:19748 Acquired angioedema type 1 skos:exactMatch Orphanet:100056 semapv:UnspecifiedMatching +GARD:19749 Neurogenic thoracic outlet syndrome skos:exactMatch Orphanet:100073 semapv:UnspecifiedMatching +GARD:1975 Duplication of urethra skos:exactMatch Orphanet:237 semapv:UnspecifiedMatching +GARD:19750 Neuroendocrine tumor of stomach skos:exactMatch Orphanet:100075 semapv:UnspecifiedMatching +GARD:19751 Duodenal neuroendocrine tumor skos:exactMatch Orphanet:100076 semapv:UnspecifiedMatching +GARD:19752 Jejunal neuroendocrine tumor skos:exactMatch Orphanet:100077 semapv:UnspecifiedMatching +GARD:19753 Ileal neuroendocrine tumor skos:exactMatch Orphanet:100078 semapv:UnspecifiedMatching +GARD:19754 Neuroendocrine neoplasm of appendix skos:exactMatch Orphanet:100079 semapv:UnspecifiedMatching +GARD:19755 Neuroendocrine tumor of the colon skos:exactMatch Orphanet:100080 semapv:UnspecifiedMatching +GARD:19756 Neuroendocrine tumor of the rectum skos:exactMatch Orphanet:100081 semapv:UnspecifiedMatching +GARD:19757 Neuroendocrine tumor of anal canal skos:exactMatch Orphanet:100082 semapv:UnspecifiedMatching +GARD:19758 Laryngeal neuroendocrine tumor skos:exactMatch Orphanet:100083 semapv:UnspecifiedMatching +GARD:19759 Middle ear neuroendocrine tumor skos:exactMatch Orphanet:100084 semapv:UnspecifiedMatching +GARD:19760 Primary hepatic neuroendocrine carcinoma skos:exactMatch Orphanet:100085 semapv:UnspecifiedMatching +GARD:19761 Gallbladder neuroendocrine tumor skos:exactMatch Orphanet:100086 semapv:UnspecifiedMatching +GARD:19762 Thyroid tumor skos:exactMatch Orphanet:100087 semapv:UnspecifiedMatching +GARD:19763 Thyroid carcinoma skos:exactMatch Orphanet:100088 semapv:UnspecifiedMatching +GARD:19764 Rare parathyroid tumor skos:exactMatch Orphanet:100090 semapv:UnspecifiedMatching +GARD:19765 Adrenal/paraganglial tumor skos:exactMatch Orphanet:100091 semapv:UnspecifiedMatching +GARD:19766 Multiple polyglandular tumor skos:exactMatch Orphanet:100094 semapv:UnspecifiedMatching +GARD:19767 Thymic tumor skos:exactMatch Orphanet:100100 semapv:UnspecifiedMatching +GARD:19768 Neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 semapv:UnspecifiedMatching +GARD:19769 FRAXF syndrome skos:exactMatch Orphanet:100974 semapv:UnspecifiedMatching +GARD:19770 Autosomal dominant complex spastic paraplegia skos:exactMatch Orphanet:100979 semapv:UnspecifiedMatching +GARD:19771 Autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 semapv:UnspecifiedMatching +GARD:19772 Autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 semapv:UnspecifiedMatching +GARD:19773 Autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 semapv:UnspecifiedMatching +GARD:19774 Cleft hard palate skos:exactMatch Orphanet:101023 semapv:UnspecifiedMatching +GARD:19775 Sub-cortical nodular heterotopia skos:exactMatch Orphanet:101029 semapv:UnspecifiedMatching +GARD:19776 Congenital aortic valve dysplasia skos:exactMatch Orphanet:101043 semapv:UnspecifiedMatching +GARD:19777 Unilateral hemispheric polymicrogyria skos:exactMatch Orphanet:101071 semapv:UnspecifiedMatching +GARD:19778 Aregenerative anemia skos:exactMatch Orphanet:101096 semapv:UnspecifiedMatching +GARD:19779 Marin-Amat syndrome skos:exactMatch Orphanet:101104 semapv:UnspecifiedMatching +GARD:19780 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome skos:exactMatch Orphanet:101206 semapv:UnspecifiedMatching +GARD:19781 African tick typhus skos:exactMatch Orphanet:101334 semapv:UnspecifiedMatching +GARD:19782 Rare genetic eye disease skos:exactMatch Orphanet:101435 semapv:UnspecifiedMatching +GARD:19783 Rare non-syndromic intellectual disability skos:exactMatch Orphanet:101685 semapv:UnspecifiedMatching +GARD:19784 Anomaly of the mitral subvalvular apparatus skos:exactMatch Orphanet:101932 semapv:UnspecifiedMatching +GARD:19785 Genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 semapv:UnspecifiedMatching +GARD:19786 Rare gastroesophageal disease skos:exactMatch Orphanet:101936 semapv:UnspecifiedMatching +GARD:19787 Rare pancreatic disease skos:exactMatch Orphanet:101937 semapv:UnspecifiedMatching +GARD:19788 Rare vascular liver disease skos:exactMatch Orphanet:101938 semapv:UnspecifiedMatching +GARD:19789 Rare parenchymal liver disease skos:exactMatch Orphanet:101939 semapv:UnspecifiedMatching +GARD:19790 Rare metabolic liver disease skos:exactMatch Orphanet:101940 semapv:UnspecifiedMatching +GARD:19791 Rare biliary tract disease skos:exactMatch Orphanet:101941 semapv:UnspecifiedMatching +GARD:19792 Rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 semapv:UnspecifiedMatching +GARD:19793 Rare pulmonary disease skos:exactMatch Orphanet:101944 semapv:UnspecifiedMatching +GARD:19794 Rare bronchopulmonary tumor skos:exactMatch Orphanet:101945 semapv:UnspecifiedMatching +GARD:19795 Rare eye tumor skos:exactMatch Orphanet:101950 semapv:UnspecifiedMatching +GARD:19796 Rare diabetes mellitus skos:exactMatch Orphanet:101952 semapv:UnspecifiedMatching +GARD:19797 Rare dyslipidemia skos:exactMatch Orphanet:101953 semapv:UnspecifiedMatching +GARD:19798 Rare adrenal disease skos:exactMatch Orphanet:101954 semapv:UnspecifiedMatching +GARD:19799 Rare thyroid disease skos:exactMatch Orphanet:101955 semapv:UnspecifiedMatching +GARD:198 Proximal spinal muscular atrophy type 3 skos:exactMatch Orphanet:83419 semapv:UnspecifiedMatching +GARD:198 Proximal spinal muscular atrophy type 3 skos:narrowMatch OMIM:253400 semapv:UnspecifiedMatching +GARD:19800 Polyendocrinopathy skos:exactMatch Orphanet:101956 semapv:UnspecifiedMatching +GARD:19801 Pituitary deficiency skos:exactMatch Orphanet:101957 semapv:UnspecifiedMatching +GARD:19802 Primary adrenal insufficiency skos:exactMatch Orphanet:101958 semapv:UnspecifiedMatching +GARD:19803 Chronic primary adrenal insufficiency skos:exactMatch Orphanet:101959 semapv:UnspecifiedMatching +GARD:19804 Genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 semapv:UnspecifiedMatching +GARD:19805 Acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 semapv:UnspecifiedMatching +GARD:19806 Combined T and B cell immunodeficiency skos:exactMatch Orphanet:101972 semapv:UnspecifiedMatching +GARD:19807 Immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 semapv:UnspecifiedMatching +GARD:19808 Quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 semapv:UnspecifiedMatching +GARD:19809 Constitutional neutropenia skos:exactMatch Orphanet:101987 semapv:UnspecifiedMatching +GARD:19810 Primary immunodeficiency due to a defect in innate immunity skos:exactMatch Orphanet:101988 semapv:UnspecifiedMatching +GARD:19811 Immunodeficiency due to a complement cascade protein anomaly skos:exactMatch Orphanet:101992 semapv:UnspecifiedMatching +GARD:19812 Periodic fever syndrome skos:exactMatch Orphanet:101995 semapv:UnspecifiedMatching +GARD:19813 Primary immunodeficiency skos:exactMatch Orphanet:101997 semapv:UnspecifiedMatching +GARD:19814 Rare epilepsy skos:exactMatch Orphanet:101998 semapv:UnspecifiedMatching +GARD:19815 Medullar disease skos:exactMatch Orphanet:102000 semapv:UnspecifiedMatching +GARD:19816 Rare ataxia skos:exactMatch Orphanet:102002 semapv:UnspecifiedMatching +GARD:19817 Rare movement disorder skos:exactMatch Orphanet:102003 semapv:UnspecifiedMatching +GARD:19818 Brain inflammatory disease skos:exactMatch Orphanet:102005 semapv:UnspecifiedMatching +GARD:19819 Neurovascular malformation skos:exactMatch Orphanet:102006 semapv:UnspecifiedMatching +GARD:19820 Other syndrome with lissencephaly as a major feature skos:exactMatch Orphanet:102010 semapv:UnspecifiedMatching +GARD:19821 Lissencephaly type 3 skos:exactMatch Orphanet:102011 semapv:UnspecifiedMatching +GARD:19822 Pure hereditary spastic paraplegia skos:exactMatch Orphanet:102012 semapv:UnspecifiedMatching +GARD:19823 Complex hereditary spastic paraplegia skos:exactMatch Orphanet:102013 semapv:UnspecifiedMatching +GARD:19824 Autosomal dominant limb-girdle muscular dystrophy skos:exactMatch Orphanet:102014 semapv:UnspecifiedMatching +GARD:19825 Autosomal recessive limb-girdle muscular dystrophy skos:exactMatch Orphanet:102015 semapv:UnspecifiedMatching +GARD:19826 Autosomal monosomy skos:exactMatch Orphanet:102020 semapv:UnspecifiedMatching +GARD:19827 Rickettsial disease skos:exactMatch Orphanet:102021 semapv:UnspecifiedMatching +GARD:19828 Spotted fever rickettsiosis skos:exactMatch Orphanet:102022 semapv:UnspecifiedMatching +GARD:19829 Typhus-group rickettsiosis skos:exactMatch Orphanet:102023 semapv:UnspecifiedMatching +GARD:19830 Human herpesvirus 8-related disorder skos:exactMatch Orphanet:102024 semapv:UnspecifiedMatching +GARD:19831 Unexplained periodic fever syndrome skos:exactMatch Orphanet:102237 semapv:UnspecifiedMatching +GARD:19832 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:102283 semapv:UnspecifiedMatching +GARD:19833 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:102285 semapv:UnspecifiedMatching +GARD:19834 Rare syndromic intellectual disability skos:exactMatch Orphanet:102369 semapv:UnspecifiedMatching +GARD:19835 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:exactMatch Orphanet:102379 semapv:UnspecifiedMatching +GARD:19836 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:exactMatch Orphanet:102381 semapv:UnspecifiedMatching +GARD:19837 Acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:exactMatch Orphanet:102724 semapv:UnspecifiedMatching +GARD:19838 Chronic diarrhea due to glucoamylase deficiency skos:exactMatch Orphanet:103907 semapv:UnspecifiedMatching +GARD:19839 Congenital enterocyte heparan sulfate deficiency skos:exactMatch Orphanet:103910 semapv:UnspecifiedMatching +GARD:19840 Undetermined colitis skos:exactMatch Orphanet:103920 semapv:UnspecifiedMatching +GARD:19841 Congenital intestinal transport defect skos:exactMatch Orphanet:104003 semapv:UnspecifiedMatching +GARD:19842 Intestinal disease due to vitamin absorption anomaly skos:exactMatch Orphanet:104004 semapv:UnspecifiedMatching +GARD:19843 Intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 semapv:UnspecifiedMatching +GARD:19844 Congenital intestinal disease due to an enzymatic defect skos:exactMatch Orphanet:104006 semapv:UnspecifiedMatching +GARD:19845 Congenital enteropathy involving intestinal mucosa development skos:exactMatch Orphanet:104007 semapv:UnspecifiedMatching +GARD:19846 Rare disease involving intestinal motility skos:exactMatch Orphanet:104009 semapv:UnspecifiedMatching +GARD:19847 Intestinal polyposis syndrome skos:exactMatch Orphanet:104010 semapv:UnspecifiedMatching +GARD:19848 Rare tumor of intestine skos:exactMatch Orphanet:104011 semapv:UnspecifiedMatching +GARD:19849 Rare inflammatory bowel disease skos:exactMatch Orphanet:104012 semapv:UnspecifiedMatching +GARD:19850 Metabolic disease with intestinal involvement skos:exactMatch Orphanet:104013 semapv:UnspecifiedMatching +GARD:19851 Adenocarcinoma of the small intestine skos:exactMatch Orphanet:104075 semapv:UnspecifiedMatching +GARD:19852 Leiomyosarcoma of small intestine skos:exactMatch Orphanet:104076 semapv:UnspecifiedMatching +GARD:19853 Myopathic intestinal pseudoobstruction skos:exactMatch Orphanet:104077 semapv:UnspecifiedMatching +GARD:19854 Unclassified intestinal pseudoobstruction skos:exactMatch Orphanet:104078 semapv:UnspecifiedMatching +GARD:19855 Non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 semapv:UnspecifiedMatching +GARD:19856 Syndromic esophageal malformation skos:exactMatch Orphanet:108961 semapv:UnspecifiedMatching +GARD:19857 Non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 semapv:UnspecifiedMatching +GARD:19858 Syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 semapv:UnspecifiedMatching +GARD:19859 Non-syndromic intestinal malformation skos:exactMatch Orphanet:108967 semapv:UnspecifiedMatching +GARD:19860 Syndromic intestinal malformation skos:exactMatch Orphanet:108969 semapv:UnspecifiedMatching +GARD:19861 Non-syndromic visceral malformation skos:exactMatch Orphanet:108971 semapv:UnspecifiedMatching +GARD:19862 Syndromic visceral malformation skos:exactMatch Orphanet:108973 semapv:UnspecifiedMatching +GARD:19863 Non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 semapv:UnspecifiedMatching +GARD:19864 Syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 semapv:UnspecifiedMatching +GARD:19865 Non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 semapv:UnspecifiedMatching +GARD:19866 Syndrome with a central nervous system malformation as a major feature skos:exactMatch Orphanet:108991 semapv:UnspecifiedMatching +GARD:19867 Non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 semapv:UnspecifiedMatching +GARD:19868 Syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 semapv:UnspecifiedMatching +GARD:19869 Rare anemia skos:exactMatch Orphanet:108997 semapv:UnspecifiedMatching +GARD:19870 Arthrogryposis syndrome skos:exactMatch Orphanet:109007 semapv:UnspecifiedMatching +GARD:19871 Syndrome with limb malformations as a major feature skos:exactMatch Orphanet:109009 semapv:UnspecifiedMatching +GARD:19872 Non-syndromic limb malformation skos:exactMatch Orphanet:109011 semapv:UnspecifiedMatching +GARD:19873 Rare intestinal disease skos:exactMatch Orphanet:117569 semapv:UnspecifiedMatching +GARD:19874 Syndromic anorectal malformation skos:exactMatch Orphanet:117573 semapv:UnspecifiedMatching +GARD:19875 Neonatal hypoxic and ischemic brain injury skos:exactMatch Orphanet:137577 semapv:UnspecifiedMatching +GARD:19876 Vulvar intraepithelial neoplasia skos:exactMatch Orphanet:137583 semapv:UnspecifiedMatching +GARD:19877 Infectious epithelial keratitis skos:exactMatch Orphanet:137593 semapv:UnspecifiedMatching +GARD:19878 Neurotrophic keratopathy skos:exactMatch Orphanet:137596 semapv:UnspecifiedMatching +GARD:19879 Herpes simplex virus stromal keratitis skos:exactMatch Orphanet:137599 semapv:UnspecifiedMatching +GARD:19880 Corneal endotheliitis skos:exactMatch Orphanet:137602 semapv:UnspecifiedMatching +GARD:19881 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:exactMatch Orphanet:137608 semapv:UnspecifiedMatching +GARD:19882 Intractable diarrhea-choanal atresia-eye anomalies syndrome skos:exactMatch Orphanet:137622 semapv:UnspecifiedMatching +GARD:19883 Cardiac anomalies-heterotaxy syndrome skos:exactMatch Orphanet:137628 semapv:UnspecifiedMatching +GARD:19884 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk skos:exactMatch Orphanet:137698 semapv:UnspecifiedMatching +GARD:19885 Macular amyloidosis skos:exactMatch Orphanet:137814 semapv:UnspecifiedMatching +GARD:19886 Extrapelvic endometriosis skos:exactMatch Orphanet:137820 semapv:UnspecifiedMatching +GARD:19887 Madras motor neuron disease skos:exactMatch Orphanet:137867 semapv:UnspecifiedMatching +GARD:19888 Syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 semapv:UnspecifiedMatching +GARD:19889 Choanal atresia, unilateral skos:exactMatch Orphanet:137917 semapv:UnspecifiedMatching +GARD:19890 Choanal atresia, bilateral skos:exactMatch Orphanet:137920 semapv:UnspecifiedMatching +GARD:19891 Primary laryngeal lymphangioma skos:exactMatch Orphanet:137926 semapv:UnspecifiedMatching +GARD:19892 Neonatal brainstem dysfunction skos:exactMatch Orphanet:137929 semapv:UnspecifiedMatching +GARD:19893 Laryngotracheal angioma skos:exactMatch Orphanet:137935 semapv:UnspecifiedMatching +GARD:19894 Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 semapv:UnspecifiedMatching +GARD:19895 Rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 semapv:UnspecifiedMatching +GARD:19896 Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 semapv:UnspecifiedMatching +GARD:19897 Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 semapv:UnspecifiedMatching +GARD:19898 Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 semapv:UnspecifiedMatching +GARD:19899 Teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 semapv:UnspecifiedMatching +GARD:19900 Developmental anomaly of metabolic origin skos:exactMatch Orphanet:139009 semapv:UnspecifiedMatching +GARD:19901 Rare bone development disorder skos:exactMatch Orphanet:139012 semapv:UnspecifiedMatching +GARD:19902 Malformation syndrome with short stature skos:exactMatch Orphanet:139021 semapv:UnspecifiedMatching +GARD:19903 Overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 semapv:UnspecifiedMatching +GARD:19904 Rare developmental defect with skin/mucosae involvement skos:exactMatch Orphanet:139027 semapv:UnspecifiedMatching +GARD:19905 Rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 semapv:UnspecifiedMatching +GARD:19906 Progeroid syndrome skos:exactMatch Orphanet:139033 semapv:UnspecifiedMatching +GARD:19907 Branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 semapv:UnspecifiedMatching +GARD:19908 Orofacial clefting syndrome skos:exactMatch Orphanet:139039 semapv:UnspecifiedMatching +GARD:19909 Malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 semapv:UnspecifiedMatching +GARD:19910 Non-syndromic craniosynostosis skos:exactMatch Orphanet:139390 semapv:UnspecifiedMatching +GARD:19911 Syndromic craniosynostosis skos:exactMatch Orphanet:139393 semapv:UnspecifiedMatching +GARD:19912 Congenital panfollicular nevus skos:exactMatch Orphanet:139414 semapv:UnspecifiedMatching +GARD:19913 Acute transverse myelitis skos:exactMatch Orphanet:139417 semapv:UnspecifiedMatching +GARD:19914 Idiopathic acute transverse myelitis skos:exactMatch Orphanet:139423 semapv:UnspecifiedMatching +GARD:19915 Perioral myoclonia with absences skos:exactMatch Orphanet:139426 semapv:UnspecifiedMatching +GARD:19916 Jeavons syndrome skos:exactMatch Orphanet:139431 semapv:UnspecifiedMatching +GARD:19917 Leukoencephalopathy with bilateral anterior temporal lobe cysts skos:exactMatch Orphanet:139444 semapv:UnspecifiedMatching +GARD:19918 Progressive cavitating leukoencephalopathy skos:exactMatch Orphanet:139447 semapv:UnspecifiedMatching +GARD:19919 Neuropathy with hearing impairment skos:exactMatch Orphanet:139512 semapv:UnspecifiedMatching +GARD:19920 Hereditary sensory and autonomic neuropathy with deafness and global delay skos:exactMatch Orphanet:139573 semapv:UnspecifiedMatching +GARD:19921 Inherited cancer-predisposing syndrome skos:exactMatch Orphanet:140162 semapv:UnspecifiedMatching +GARD:19922 Secondary hypoparathyroidism due to impaired parathormon secretion skos:exactMatch Orphanet:140286 semapv:UnspecifiedMatching +GARD:19923 Autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 semapv:UnspecifiedMatching +GARD:19924 Autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 semapv:UnspecifiedMatching +GARD:19925 Autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 semapv:UnspecifiedMatching +GARD:19926 Autosomal dominant distal hereditary motor neuropathy skos:exactMatch Orphanet:140465 semapv:UnspecifiedMatching +GARD:19927 Autosomal recessive distal hereditary motor neuropathy skos:exactMatch Orphanet:140468 semapv:UnspecifiedMatching +GARD:19928 Autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 semapv:UnspecifiedMatching +GARD:19929 Autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 semapv:UnspecifiedMatching +GARD:1993 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch Orphanet:2274 semapv:UnspecifiedMatching +GARD:1993 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:narrowMatch OMIM:242520 semapv:UnspecifiedMatching +GARD:19930 Neuro-ophthalmological disease skos:exactMatch Orphanet:140653 semapv:UnspecifiedMatching +GARD:19931 Joubert syndrome and related disorders skos:exactMatch Orphanet:140874 semapv:UnspecifiedMatching +GARD:19932 Linear atrophoderma of Moulin skos:exactMatch Orphanet:140933 semapv:UnspecifiedMatching +GARD:19933 Low-flow priapism skos:exactMatch Orphanet:140949 semapv:UnspecifiedMatching +GARD:19934 First branchial cleft anomaly skos:exactMatch Orphanet:141013 semapv:UnspecifiedMatching +GARD:19935 Third branchial cleft anomaly skos:exactMatch Orphanet:141030 semapv:UnspecifiedMatching +GARD:19936 Fourth branchial cleft anomaly skos:exactMatch Orphanet:141037 semapv:UnspecifiedMatching +GARD:19937 Cervical dermoid cyst skos:exactMatch Orphanet:141046 semapv:UnspecifiedMatching +GARD:19938 Facial dermoid cyst skos:exactMatch Orphanet:141051 semapv:UnspecifiedMatching +GARD:19939 Commissural lip fistula skos:exactMatch Orphanet:141061 semapv:UnspecifiedMatching +GARD:1994 Dyschondrosteosis-nephritis syndrome skos:exactMatch Orphanet:1765 semapv:UnspecifiedMatching +GARD:1994 Dyschondrosteosis-nephritis syndrome skos:narrowMatch OMIM:127350 semapv:UnspecifiedMatching +GARD:19940 Lower lip fistula skos:exactMatch Orphanet:141064 semapv:UnspecifiedMatching +GARD:19941 Cervicofacial fibrochondroma skos:exactMatch Orphanet:141067 semapv:UnspecifiedMatching +GARD:19942 Digestive duplication cyst of the tongue skos:exactMatch Orphanet:141071 semapv:UnspecifiedMatching +GARD:19943 Epignathus skos:exactMatch Orphanet:141077 semapv:UnspecifiedMatching +GARD:19944 Nasolacrimal duct cyst skos:exactMatch Orphanet:141083 semapv:UnspecifiedMatching +GARD:19945 Polyrrhinia skos:exactMatch Orphanet:141091 semapv:UnspecifiedMatching +GARD:19946 Supernumerary nostril skos:exactMatch Orphanet:141096 semapv:UnspecifiedMatching +GARD:19947 Proboscis lateralis skos:exactMatch Orphanet:141099 semapv:UnspecifiedMatching +GARD:19948 Nasopharyngeal teratoma skos:exactMatch Orphanet:141107 semapv:UnspecifiedMatching +GARD:19949 Nasal glial heterotopia skos:exactMatch Orphanet:141112 semapv:UnspecifiedMatching +GARD:19950 Nasal ganglioglioma skos:exactMatch Orphanet:141115 semapv:UnspecifiedMatching +GARD:19951 Nasal encephalocele skos:exactMatch Orphanet:141118 semapv:UnspecifiedMatching +GARD:19952 Congenital subglottic stenosis skos:exactMatch Orphanet:141121 semapv:UnspecifiedMatching +GARD:19953 Congenital laryngeal cyst skos:exactMatch Orphanet:141124 semapv:UnspecifiedMatching +GARD:19954 Glossopalatine ankylosis skos:exactMatch Orphanet:141163 semapv:UnspecifiedMatching +GARD:19955 Frontonasal arteriovenous malformation skos:exactMatch Orphanet:141168 semapv:UnspecifiedMatching +GARD:19956 Maxillary arteriovenous malformation skos:exactMatch Orphanet:141171 semapv:UnspecifiedMatching +GARD:19957 Mandibular arteriovenous malformation skos:exactMatch Orphanet:141174 semapv:UnspecifiedMatching +GARD:19958 Rapidly involuting congenital hemangioma skos:exactMatch Orphanet:141184 semapv:UnspecifiedMatching +GARD:19959 Cerebrofacial arteriovenous metameric syndrome type 1 skos:exactMatch Orphanet:141194 semapv:UnspecifiedMatching +GARD:1996 Dyschromatosis universalis hereditaria skos:exactMatch Orphanet:241 semapv:UnspecifiedMatching +GARD:1996 Dyschromatosis universalis hereditaria skos:narrowMatch OMIM:127500 semapv:UnspecifiedMatching +GARD:1996 Dyschromatosis universalis hereditaria skos:narrowMatch OMIM:612715 semapv:UnspecifiedMatching +GARD:1996 Dyschromatosis universalis hereditaria skos:narrowMatch OMIM:615402 semapv:UnspecifiedMatching +GARD:19960 Cerebrofacial arteriovenous metameric syndrome type 3 skos:exactMatch Orphanet:141199 semapv:UnspecifiedMatching +GARD:19961 Diffuse lymphatic malformation skos:exactMatch Orphanet:141209 semapv:UnspecifiedMatching +GARD:19962 Isolated congenital syngnathia skos:exactMatch Orphanet:141214 semapv:UnspecifiedMatching +GARD:19963 Nasal dorsum fistula skos:exactMatch Orphanet:141219 semapv:UnspecifiedMatching +GARD:19964 Facial cleft skos:exactMatch Orphanet:141229 semapv:UnspecifiedMatching +GARD:19965 Median facial cleft skos:exactMatch Orphanet:141234 semapv:UnspecifiedMatching +GARD:19966 Median cleft of the upper lip and maxilla skos:exactMatch Orphanet:141239 semapv:UnspecifiedMatching +GARD:19967 Oblique facial cleft skos:exactMatch Orphanet:141253 semapv:UnspecifiedMatching +GARD:19968 Tessier number 5 facial cleft skos:exactMatch Orphanet:141261 semapv:UnspecifiedMatching +GARD:19969 Tessier number 6 facial cleft skos:exactMatch Orphanet:141265 semapv:UnspecifiedMatching +GARD:19970 Lateral facial cleft skos:exactMatch Orphanet:141269 semapv:UnspecifiedMatching +GARD:19971 Midline cervical cleft skos:exactMatch Orphanet:141288 semapv:UnspecifiedMatching +GARD:19972 Rare head and neck malformation skos:exactMatch Orphanet:155832 semapv:UnspecifiedMatching +GARD:19973 Cysts and fistulae of the face and oral cavity skos:exactMatch Orphanet:155835 semapv:UnspecifiedMatching +GARD:19974 Pinnae fistula or cyst skos:exactMatch Orphanet:155838 semapv:UnspecifiedMatching +GARD:19975 Paramedian facial cleft skos:exactMatch Orphanet:155867 semapv:UnspecifiedMatching +GARD:19976 Submucosal cleft palate skos:exactMatch Orphanet:155878 semapv:UnspecifiedMatching +GARD:19977 Coloboma of superior eyelid skos:exactMatch Orphanet:155884 semapv:UnspecifiedMatching +GARD:19978 Coloboma of inferior eyelid skos:exactMatch Orphanet:155889 semapv:UnspecifiedMatching +GARD:19979 Otomandibular dysplasia skos:exactMatch Orphanet:155896 semapv:UnspecifiedMatching +GARD:1998 Dysequilibrium syndrome skos:exactMatch Orphanet:1766 semapv:UnspecifiedMatching +GARD:1998 Dysequilibrium syndrome skos:narrowMatch OMIM:224050 semapv:UnspecifiedMatching +GARD:1998 Dysequilibrium syndrome skos:narrowMatch OMIM:610185 semapv:UnspecifiedMatching +GARD:1998 Dysequilibrium syndrome skos:narrowMatch OMIM:613227 semapv:UnspecifiedMatching +GARD:1998 Dysequilibrium syndrome skos:narrowMatch OMIM:615268 semapv:UnspecifiedMatching +GARD:19980 Mandibulofacial dysostosis skos:exactMatch Orphanet:155899 semapv:UnspecifiedMatching +GARD:19981 Predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 semapv:UnspecifiedMatching +GARD:19982 Predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 semapv:UnspecifiedMatching +GARD:19983 Predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 semapv:UnspecifiedMatching +GARD:19984 Immune complex mediated vasculitis skos:exactMatch Orphanet:156149 semapv:UnspecifiedMatching +GARD:19985 Isolated dystonia skos:exactMatch Orphanet:156159 semapv:UnspecifiedMatching +GARD:19986 Renal ciliopathy skos:exactMatch Orphanet:156162 semapv:UnspecifiedMatching +GARD:19987 Retinal ciliopathy skos:exactMatch Orphanet:156165 semapv:UnspecifiedMatching +GARD:19988 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 semapv:UnspecifiedMatching +GARD:19989 Retinal ciliopathy due to mutation in the RPGR gene skos:exactMatch Orphanet:156171 semapv:UnspecifiedMatching +GARD:1999 Congenital dyserythropoietic anemia skos:exactMatch Orphanet:85 semapv:UnspecifiedMatching +GARD:19990 Retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 semapv:UnspecifiedMatching +GARD:19991 Retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 semapv:UnspecifiedMatching +GARD:19992 Retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 semapv:UnspecifiedMatching +GARD:19993 Retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 semapv:UnspecifiedMatching +GARD:19994 Otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 semapv:UnspecifiedMatching +GARD:19995 Hypoglossia/aglossia skos:exactMatch Orphanet:156212 semapv:UnspecifiedMatching +GARD:19996 Oromandibular-limb anomalies syndrome skos:exactMatch Orphanet:156215 semapv:UnspecifiedMatching +GARD:19997 Paralytic facial malformation skos:exactMatch Orphanet:156224 semapv:UnspecifiedMatching +GARD:19998 Syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 semapv:UnspecifiedMatching +GARD:19999 Pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 semapv:UnspecifiedMatching +GARD:200 Central serous chorioretinopathy skos:exactMatch Orphanet:443079 semapv:UnspecifiedMatching +GARD:2000 Congenital dyserythropoietic anemia type I skos:exactMatch Orphanet:98869 semapv:UnspecifiedMatching +GARD:2000 Congenital dyserythropoietic anemia type I skos:narrowMatch OMIM:224120 semapv:UnspecifiedMatching +GARD:2000 Congenital dyserythropoietic anemia type I skos:narrowMatch OMIM:615631 semapv:UnspecifiedMatching +GARD:20000 Nose and cavum anomaly skos:exactMatch Orphanet:156246 semapv:UnspecifiedMatching +GARD:20001 Larynx anomaly skos:exactMatch Orphanet:156249 semapv:UnspecifiedMatching +GARD:20002 Tracheal anomaly skos:exactMatch Orphanet:156252 semapv:UnspecifiedMatching +GARD:20003 Rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 semapv:UnspecifiedMatching +GARD:20004 Rare genetic hepatic disease skos:exactMatch Orphanet:156601 semapv:UnspecifiedMatching +GARD:20005 Genetic parenchymatous liver disease skos:exactMatch Orphanet:156604 semapv:UnspecifiedMatching +GARD:20006 Genetic biliary tract disease skos:exactMatch Orphanet:156607 semapv:UnspecifiedMatching +GARD:20007 Rare genetic respiratory disease skos:exactMatch Orphanet:156610 semapv:UnspecifiedMatching +GARD:20008 Rare genetic urogenital disease skos:exactMatch Orphanet:156619 semapv:UnspecifiedMatching +GARD:20009 Genetic urogenital tract malformation skos:exactMatch Orphanet:156622 semapv:UnspecifiedMatching +GARD:2001 Congenital dyserythropoietic anemia type II skos:exactMatch Orphanet:98873 semapv:UnspecifiedMatching +GARD:2001 Congenital dyserythropoietic anemia type II skos:narrowMatch OMIM:224100 semapv:UnspecifiedMatching +GARD:20010 Rare genetic cause of hypertension skos:exactMatch Orphanet:156629 semapv:UnspecifiedMatching +GARD:20011 Rare genetic endocrine disease skos:exactMatch Orphanet:156638 semapv:UnspecifiedMatching +GARD:20012 Genetic endocrine growth disease skos:exactMatch Orphanet:156643 semapv:UnspecifiedMatching +GARD:20013 Situs ambiguus skos:exactMatch Orphanet:157769 semapv:UnspecifiedMatching +GARD:20014 Epithelioid hemangioendothelioma skos:exactMatch Orphanet:157791 semapv:UnspecifiedMatching +GARD:20015 Congenital pseudoarthrosis of the limbs skos:exactMatch Orphanet:157808 semapv:UnspecifiedMatching +GARD:20016 Congenital epulis skos:exactMatch Orphanet:157826 semapv:UnspecifiedMatching +GARD:20017 Trigeminal autonomic cephalalgia skos:exactMatch Orphanet:157843 semapv:UnspecifiedMatching +GARD:20018 Generalized eruptive histiocytosis skos:exactMatch Orphanet:157991 semapv:UnspecifiedMatching +GARD:20019 Benign cephalic histiocytosis skos:exactMatch Orphanet:157997 semapv:UnspecifiedMatching +GARD:2002 Congenital dyserythropoietic anemia type III skos:exactMatch Orphanet:98870 semapv:UnspecifiedMatching +GARD:2002 Congenital dyserythropoietic anemia type III skos:narrowMatch OMIM:105600 semapv:UnspecifiedMatching +GARD:20020 Juvenile xanthogranuloma skos:exactMatch Orphanet:158000 semapv:UnspecifiedMatching +GARD:20021 Papular xanthoma skos:exactMatch Orphanet:158008 semapv:UnspecifiedMatching +GARD:20022 Indeterminate cell histiocytosis skos:exactMatch Orphanet:158019 semapv:UnspecifiedMatching +GARD:20023 Progressive nodular histiocytosis skos:exactMatch Orphanet:158022 semapv:UnspecifiedMatching +GARD:20024 Hemophagocytic syndrome skos:exactMatch Orphanet:158032 semapv:UnspecifiedMatching +GARD:20025 Primary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 semapv:UnspecifiedMatching +GARD:20026 Secondary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158041 semapv:UnspecifiedMatching +GARD:20027 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:exactMatch Orphanet:158057 semapv:UnspecifiedMatching +GARD:20028 Genetic dementia skos:exactMatch Orphanet:158124 semapv:UnspecifiedMatching +GARD:20029 Huntington disease-like syndrome skos:exactMatch Orphanet:158266 semapv:UnspecifiedMatching +GARD:2003 Qualitative or quantitative defects of dysferlin skos:exactMatch Orphanet:207073 semapv:UnspecifiedMatching +GARD:20030 Rare genetic hematologic disease skos:exactMatch Orphanet:158300 semapv:UnspecifiedMatching +GARD:20031 Localized dystrophic epidermolysis bullosa, acral form skos:exactMatch Orphanet:158673 semapv:UnspecifiedMatching +GARD:20032 Localized dystrophic epidermolysis bullosa, nails only skos:exactMatch Orphanet:158676 semapv:UnspecifiedMatching +GARD:20033 Typical urticaria pigmentosa skos:exactMatch Orphanet:158766 semapv:UnspecifiedMatching +GARD:20034 Plaque-form urticaria pigmentosa skos:exactMatch Orphanet:158769 semapv:UnspecifiedMatching +GARD:20035 Nodular urticaria pigmentosa skos:exactMatch Orphanet:158772 semapv:UnspecifiedMatching +GARD:20036 Smoldering systemic mastocytosis skos:exactMatch Orphanet:158775 semapv:UnspecifiedMatching +GARD:20037 Isolated bone marrow mastocytosis skos:exactMatch Orphanet:158778 semapv:UnspecifiedMatching +GARD:20038 Cap polyposis skos:exactMatch Orphanet:160148 semapv:UnspecifiedMatching +GARD:20039 Isolated congenital nasal pyriform aperture stenosis skos:exactMatch Orphanet:162516 semapv:UnspecifiedMatching +GARD:2004 Familial dysfibrinogenemia skos:exactMatch Orphanet:98881 semapv:UnspecifiedMatching +GARD:2004 Familial dysfibrinogenemia skos:narrowMatch OMIM:616004 semapv:UnspecifiedMatching +GARD:20040 Isolated congenital auditory ossicle malformation skos:exactMatch Orphanet:162526 semapv:UnspecifiedMatching +GARD:20041 Non-syndromic cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 semapv:UnspecifiedMatching +GARD:20042 Subacute cutaneous lupus erythematosus skos:exactMatch Orphanet:163525 semapv:UnspecifiedMatching +GARD:20043 Chronic cutaneous lupus erythematosus skos:exactMatch Orphanet:163531 semapv:UnspecifiedMatching +GARD:20044 Rare bacterial infectious disease skos:exactMatch Orphanet:163582 semapv:UnspecifiedMatching +GARD:20045 Rare viral disease skos:exactMatch Orphanet:163585 semapv:UnspecifiedMatching +GARD:20046 Rare parasitic disease skos:exactMatch Orphanet:163588 semapv:UnspecifiedMatching +GARD:20047 Rare mycosis skos:exactMatch Orphanet:163591 semapv:UnspecifiedMatching +GARD:20048 Bile acid synthesis defect with cholestasis and malabsorption skos:exactMatch Orphanet:163631 semapv:UnspecifiedMatching +GARD:20049 Rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 semapv:UnspecifiedMatching +GARD:2005 Extragonadal germinoma skos:exactMatch Orphanet:182127 semapv:UnspecifiedMatching +GARD:20050 Cryptogenic late-onset epileptic spasms skos:exactMatch Orphanet:163708 semapv:UnspecifiedMatching +GARD:20051 Posttransplant acute limbic encephalitis skos:exactMatch Orphanet:163921 semapv:UnspecifiedMatching +GARD:20052 Acrodermatitis continua of Hallopeau skos:exactMatch Orphanet:163931 semapv:UnspecifiedMatching +GARD:20053 Atopic keratoconjunctivitis skos:exactMatch Orphanet:163934 semapv:UnspecifiedMatching +GARD:20054 X-linked intellectual disability, Cilliers type skos:exactMatch Orphanet:163971 semapv:UnspecifiedMatching +GARD:20055 Rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 semapv:UnspecifiedMatching +GARD:20056 Middle ear anomaly skos:exactMatch Orphanet:164004 semapv:UnspecifiedMatching +GARD:20057 Acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:exactMatch Orphanet:164726 semapv:UnspecifiedMatching +GARD:20058 Rare acquired aplastic anemia skos:exactMatch Orphanet:164823 semapv:UnspecifiedMatching +GARD:20059 Rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 semapv:UnspecifiedMatching +GARD:20060 Genetic intestinal disease skos:exactMatch Orphanet:165655 semapv:UnspecifiedMatching +GARD:20061 Genetic gastro-esophageal disease skos:exactMatch Orphanet:165658 semapv:UnspecifiedMatching +GARD:20062 Genetic pancreatic disease skos:exactMatch Orphanet:165661 semapv:UnspecifiedMatching +GARD:20063 Non-syndromic urogenital tract malformation skos:exactMatch Orphanet:165704 semapv:UnspecifiedMatching +GARD:20064 Syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 semapv:UnspecifiedMatching +GARD:20065 Wound myiasis skos:exactMatch Orphanet:165955 semapv:UnspecifiedMatching +GARD:20066 Cavitary myiasis skos:exactMatch Orphanet:165958 semapv:UnspecifiedMatching +GARD:20067 Diazoxide-sensitive diffuse hyperinsulinism skos:exactMatch Orphanet:165985 semapv:UnspecifiedMatching +GARD:20068 Diazoxide-resistant diffuse hyperinsulinism skos:exactMatch Orphanet:165988 semapv:UnspecifiedMatching +GARD:20069 Bazex syndrome skos:exactMatch Orphanet:166113 semapv:UnspecifiedMatching +GARD:2007 Dyskeratosis congenita, x-linked skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:2007 Dyskeratosis congenita, x-linked skos:exactMatch OMIM:305000 semapv:UnspecifiedMatching +GARD:20070 Porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch Orphanet:166286 semapv:UnspecifiedMatching +GARD:20071 Benign non-familial infantile seizures skos:exactMatch Orphanet:166295 semapv:UnspecifiedMatching +GARD:20072 Benign partial epilepsy of infancy with complex partial seizures skos:exactMatch Orphanet:166299 semapv:UnspecifiedMatching +GARD:20073 Benign partial epilepsy with secondarily generalized seizures in infancy skos:exactMatch Orphanet:166302 semapv:UnspecifiedMatching +GARD:20074 Benign infantile seizures associated with mild gastroenteritis skos:exactMatch Orphanet:166305 semapv:UnspecifiedMatching +GARD:20075 Benign infantile focal epilepsy with midline spikes and waves during sleep skos:exactMatch Orphanet:166308 semapv:UnspecifiedMatching +GARD:20076 Benign partial infantile seizures skos:exactMatch Orphanet:166311 semapv:UnspecifiedMatching +GARD:20077 Audiogenic seizures skos:exactMatch Orphanet:166415 semapv:UnspecifiedMatching +GARD:20078 Eating reflex epilepsy skos:exactMatch Orphanet:166418 semapv:UnspecifiedMatching +GARD:20079 Orgasm-induced seizures skos:exactMatch Orphanet:166421 semapv:UnspecifiedMatching +GARD:20080 Thinking seizures skos:exactMatch Orphanet:166424 semapv:UnspecifiedMatching +GARD:20081 Startle epilepsy skos:exactMatch Orphanet:166427 semapv:UnspecifiedMatching +GARD:20082 Micturation-induced seizures skos:exactMatch Orphanet:166430 semapv:UnspecifiedMatching +GARD:20083 Epilepsy syndrome skos:exactMatch Orphanet:166463 semapv:UnspecifiedMatching +GARD:20084 Neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 semapv:UnspecifiedMatching +GARD:20085 Chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 semapv:UnspecifiedMatching +GARD:20086 Monogenic disease with epilepsy skos:exactMatch Orphanet:166472 semapv:UnspecifiedMatching +GARD:20087 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 semapv:UnspecifiedMatching +GARD:20088 Cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 semapv:UnspecifiedMatching +GARD:20089 Metabolic diseases with epilepsy skos:exactMatch Orphanet:166481 semapv:UnspecifiedMatching +GARD:2009 Dysmorphism-cleft palate-loose skin syndrome skos:exactMatch Orphanet:1779 semapv:UnspecifiedMatching +GARD:20090 Inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 semapv:UnspecifiedMatching +GARD:20091 Cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 semapv:UnspecifiedMatching +GARD:20092 Infectious disease with epilepsy skos:exactMatch Orphanet:166490 semapv:UnspecifiedMatching +GARD:20093 Rare hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 semapv:UnspecifiedMatching +GARD:20094 Hereditary dentin defect skos:exactMatch Orphanet:167759 semapv:UnspecifiedMatching +GARD:20095 Rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 semapv:UnspecifiedMatching +GARD:20096 Rare cardiomyopathy skos:exactMatch Orphanet:167848 semapv:UnspecifiedMatching +GARD:20097 Rare cardiac tumor skos:exactMatch Orphanet:168194 semapv:UnspecifiedMatching +GARD:20098 Dysplasia of head of femur, Meyer type skos:exactMatch Orphanet:168621 semapv:UnspecifiedMatching +GARD:20099 Rare pervasive developmental disorder skos:exactMatch Orphanet:168778 semapv:UnspecifiedMatching +GARD:201 Ascher syndrome skos:exactMatch Orphanet:1253 semapv:UnspecifiedMatching +GARD:201 Ascher syndrome skos:narrowMatch OMIM:109900 semapv:UnspecifiedMatching +GARD:20100 Primary peritoneal tumor skos:exactMatch Orphanet:168803 semapv:UnspecifiedMatching +GARD:20101 Primary malignant peritoneal tumor skos:exactMatch Orphanet:168807 semapv:UnspecifiedMatching +GARD:20102 Malignant peritoneal mesothelioma skos:exactMatch Orphanet:168811 semapv:UnspecifiedMatching +GARD:20103 Primary peritoneal carcinoma skos:exactMatch Orphanet:168829 semapv:UnspecifiedMatching +GARD:20104 Chronic eosinophilic leukemia skos:exactMatch Orphanet:168940 semapv:UnspecifiedMatching +GARD:20105 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:exactMatch Orphanet:168943 semapv:UnspecifiedMatching +GARD:20106 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement skos:exactMatch Orphanet:168947 semapv:UnspecifiedMatching +GARD:20107 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement skos:exactMatch Orphanet:168950 semapv:UnspecifiedMatching +GARD:20108 Refractory anemia with excess blasts in transformation skos:exactMatch Orphanet:168960 semapv:UnspecifiedMatching +GARD:20109 Composite lymphoma skos:exactMatch Orphanet:168966 semapv:UnspecifiedMatching +GARD:20110 Malignant melanoma of the mucosa skos:exactMatch Orphanet:168999 semapv:UnspecifiedMatching +GARD:20111 Immunoglobulin heavy chain deficiency skos:exactMatch Orphanet:169110 semapv:UnspecifiedMatching +GARD:20112 Transient hypogammaglobulinemia of infancy skos:exactMatch Orphanet:169139 semapv:UnspecifiedMatching +GARD:20113 Familial scaphocephaly syndrome skos:exactMatch Orphanet:169163 semapv:UnspecifiedMatching +GARD:20114 DNA repair defect other than combined T-cell and B-cell immunodeficiencies skos:exactMatch Orphanet:169346 semapv:UnspecifiedMatching +GARD:20115 Immuno-osseous dysplasia skos:exactMatch Orphanet:169349 semapv:UnspecifiedMatching +GARD:20116 Immunodeficiency syndrome with autoimmunity skos:exactMatch Orphanet:169355 semapv:UnspecifiedMatching +GARD:20117 Immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 semapv:UnspecifiedMatching +GARD:20118 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch Orphanet:169443 semapv:UnspecifiedMatching +GARD:20119 Idiopathic central precocious puberty skos:exactMatch Orphanet:169615 semapv:UnspecifiedMatching +GARD:2012 Dysosteosclerosis skos:exactMatch Orphanet:1782 semapv:UnspecifiedMatching +GARD:2012 Dysosteosclerosis skos:narrowMatch OMIM:224300 semapv:UnspecifiedMatching +GARD:20120 Secondary central precocious puberty skos:exactMatch Orphanet:169618 semapv:UnspecifiedMatching +GARD:20121 Congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch Orphanet:169826 semapv:UnspecifiedMatching +GARD:20122 Rectal duplication skos:exactMatch Orphanet:171220 semapv:UnspecifiedMatching +GARD:20123 Limbal stem cell deficiency skos:exactMatch Orphanet:171673 semapv:UnspecifiedMatching +GARD:20124 Idiopathic bilateral vestibulopathy skos:exactMatch Orphanet:171684 semapv:UnspecifiedMatching +GARD:20125 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:exactMatch Orphanet:171703 semapv:UnspecifiedMatching +GARD:20126 6q16 microdeletion syndrome skos:exactMatch Orphanet:171829 semapv:UnspecifiedMatching +GARD:20127 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:exactMatch Orphanet:171839 semapv:UnspecifiedMatching +GARD:20128 Intellectual disability-cataracts-kyphosis syndrome skos:exactMatch Orphanet:171860 semapv:UnspecifiedMatching +GARD:20129 Myopathy with hexagonally cross-linked tubular arrays skos:exactMatch Orphanet:171889 semapv:UnspecifiedMatching +GARD:2013 Robinow syndrome, autosomal dominant 1 skos:broadMatch Orphanet:3107 semapv:UnspecifiedMatching +GARD:2013 Robinow syndrome, autosomal dominant 1 skos:exactMatch OMIM:180700 semapv:UnspecifiedMatching +GARD:20130 Myeloid hemopathy skos:exactMatch Orphanet:171895 semapv:UnspecifiedMatching +GARD:20131 Lymphoid hemopathy skos:exactMatch Orphanet:171898 semapv:UnspecifiedMatching +GARD:20132 B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:171915 semapv:UnspecifiedMatching +GARD:20133 T-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:171918 semapv:UnspecifiedMatching +GARD:20134 Congenital myopathy with cores skos:exactMatch Orphanet:172976 semapv:UnspecifiedMatching +GARD:20135 Congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:174590 semapv:UnspecifiedMatching +GARD:20136 Rare adult hypothyroidism skos:exactMatch Orphanet:177101 semapv:UnspecifiedMatching +GARD:20137 Syndromic hypothyroidism skos:exactMatch Orphanet:177107 semapv:UnspecifiedMatching +GARD:20138 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:exactMatch Orphanet:177901 semapv:UnspecifiedMatching +GARD:20139 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:exactMatch Orphanet:177904 semapv:UnspecifiedMatching +GARD:20140 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations skos:exactMatch Orphanet:178025 semapv:UnspecifiedMatching +GARD:20141 Rare peripheral precocious puberty skos:exactMatch Orphanet:178040 semapv:UnspecifiedMatching +GARD:20142 Transient congenital hypothyroidism skos:exactMatch Orphanet:178045 semapv:UnspecifiedMatching +GARD:20143 Antenatal multiminicore disease with arthrogryposis multiplex congenita skos:exactMatch Orphanet:178148 semapv:UnspecifiedMatching +GARD:20144 Isolated sternocostoclavicular hyperostosis skos:exactMatch Orphanet:178311 semapv:UnspecifiedMatching +GARD:20145 Undifferentiated embryonal sarcoma of the liver skos:exactMatch Orphanet:178315 semapv:UnspecifiedMatching +GARD:20146 Acute lung injury skos:exactMatch Orphanet:178320 semapv:UnspecifiedMatching +GARD:20147 Osteosclerosis-developmental delay-craniosynostosis syndrome skos:exactMatch Orphanet:178377 semapv:UnspecifiedMatching +GARD:20148 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:exactMatch Orphanet:178396 semapv:UnspecifiedMatching +GARD:20149 Wound botulism skos:exactMatch Orphanet:178475 semapv:UnspecifiedMatching +GARD:2015 Peripheral dysostosis skos:exactMatch Orphanet:1795 semapv:UnspecifiedMatching +GARD:2015 Peripheral dysostosis skos:narrowMatch OMIM:170700 semapv:UnspecifiedMatching +GARD:20150 Infant botulism skos:exactMatch Orphanet:178478 semapv:UnspecifiedMatching +GARD:20151 Intestinal botulism skos:exactMatch Orphanet:178481 semapv:UnspecifiedMatching +GARD:20152 Adult intestinal botulism skos:exactMatch Orphanet:178487 semapv:UnspecifiedMatching +GARD:20153 Myopic macular degeneration skos:exactMatch Orphanet:178493 semapv:UnspecifiedMatching +GARD:20154 Folliculotropic mycosis fungoides skos:exactMatch Orphanet:178512 semapv:UnspecifiedMatching +GARD:20155 Localized pagetoid reticulosis skos:exactMatch Orphanet:178517 semapv:UnspecifiedMatching +GARD:20156 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:exactMatch Orphanet:178522 semapv:UnspecifiedMatching +GARD:20157 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:exactMatch Orphanet:178528 semapv:UnspecifiedMatching +GARD:20158 Primary cutaneous gamma/delta-positive T-cell lymphoma skos:exactMatch Orphanet:178533 semapv:UnspecifiedMatching +GARD:20159 Primary cutaneous marginal zone B-cell lymphoma skos:exactMatch Orphanet:178536 semapv:UnspecifiedMatching +GARD:2016 Dysostosis, Stanescu type skos:exactMatch Orphanet:1798 semapv:UnspecifiedMatching +GARD:2016 Dysostosis, Stanescu type skos:narrowMatch OMIM:122900 semapv:UnspecifiedMatching +GARD:20160 Primary cutaneous diffuse large B-cell lymphoma, leg type skos:exactMatch Orphanet:178544 semapv:UnspecifiedMatching +GARD:20161 Indolent primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:178548 semapv:UnspecifiedMatching +GARD:20162 Aggressive primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:178551 semapv:UnspecifiedMatching +GARD:20163 Aggressive primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178554 semapv:UnspecifiedMatching +GARD:20164 Indolent primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178557 semapv:UnspecifiedMatching +GARD:20165 Primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178563 semapv:UnspecifiedMatching +GARD:20166 Mycosis fungoides and variants skos:exactMatch Orphanet:178566 semapv:UnspecifiedMatching +GARD:20167 Acquired neutropenia skos:exactMatch Orphanet:178996 semapv:UnspecifiedMatching +GARD:20168 Primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 semapv:UnspecifiedMatching +GARD:20169 Obesity due to congenital leptin resistance skos:exactMatch Orphanet:179490 semapv:UnspecifiedMatching +GARD:20170 Uterovaginal malformation skos:exactMatch Orphanet:180062 semapv:UnspecifiedMatching +GARD:20171 Non-syndromic uterovaginal malformation skos:exactMatch Orphanet:180065 semapv:UnspecifiedMatching +GARD:20172 Partial bilateral aplasia of the Müllerian ducts skos:exactMatch Orphanet:180068 semapv:UnspecifiedMatching +GARD:20173 Unilateral aplasia of the Müllerian ducts skos:exactMatch Orphanet:180071 semapv:UnspecifiedMatching +GARD:20174 True unicornuate uterus skos:exactMatch Orphanet:180074 semapv:UnspecifiedMatching +GARD:20175 Pseudounicornuate uterus skos:exactMatch Orphanet:180079 semapv:UnspecifiedMatching +GARD:20176 Didelphys uterus skos:exactMatch Orphanet:180086 semapv:UnspecifiedMatching +GARD:20177 Bicervical bicornuate uterus and blind hemivagina skos:exactMatch Orphanet:180106 semapv:UnspecifiedMatching +GARD:20178 Bicervical bicornuate uterus with patent cervix and vagina skos:exactMatch Orphanet:180111 semapv:UnspecifiedMatching +GARD:20179 Unicervical bicornuate uterus skos:exactMatch Orphanet:180114 semapv:UnspecifiedMatching +GARD:20180 Septate uterus skos:exactMatch Orphanet:180122 semapv:UnspecifiedMatching +GARD:20181 Complete septate uterus skos:exactMatch Orphanet:180126 semapv:UnspecifiedMatching +GARD:20182 Partial septate uterus skos:exactMatch Orphanet:180129 semapv:UnspecifiedMatching +GARD:20183 Bicornuate uterus skos:exactMatch Orphanet:180134 semapv:UnspecifiedMatching +GARD:20184 Uterine hypoplasia skos:exactMatch Orphanet:180139 semapv:UnspecifiedMatching +GARD:20185 Absence of uterine body skos:exactMatch Orphanet:180142 semapv:UnspecifiedMatching +GARD:20186 Uterine cervical aplasia and agenesis skos:exactMatch Orphanet:180145 semapv:UnspecifiedMatching +GARD:20187 Syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 semapv:UnspecifiedMatching +GARD:20188 Rare vaginal malformation skos:exactMatch Orphanet:180151 semapv:UnspecifiedMatching +GARD:20189 Septate vagina skos:exactMatch Orphanet:180154 semapv:UnspecifiedMatching +GARD:2019 Dysplasia epiphysealis hemimelica skos:exactMatch Orphanet:1822 semapv:UnspecifiedMatching +GARD:2019 Dysplasia epiphysealis hemimelica skos:narrowMatch OMIM:127800 semapv:UnspecifiedMatching +GARD:20190 Longitudinal vaginal septum skos:exactMatch Orphanet:180157 semapv:UnspecifiedMatching +GARD:20191 Transverse vaginal septum skos:exactMatch Orphanet:180160 semapv:UnspecifiedMatching +GARD:20192 Rare breast malformation skos:exactMatch Orphanet:180163 semapv:UnspecifiedMatching +GARD:20193 Excess breast volume or number skos:exactMatch Orphanet:180170 semapv:UnspecifiedMatching +GARD:20194 Deficient breast volume or number skos:exactMatch Orphanet:180173 semapv:UnspecifiedMatching +GARD:20195 Supernumerary breasts skos:exactMatch Orphanet:180182 semapv:UnspecifiedMatching +GARD:20196 Syndromic breast hypoplasia/aplasia skos:exactMatch Orphanet:180193 semapv:UnspecifiedMatching +GARD:20197 Rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 semapv:UnspecifiedMatching +GARD:20198 Rare non-malformative breast disease skos:exactMatch Orphanet:180202 semapv:UnspecifiedMatching +GARD:20199 Rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 semapv:UnspecifiedMatching +GARD:20200 Anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 semapv:UnspecifiedMatching +GARD:20201 Rare uterine adnexal tumor skos:exactMatch Orphanet:180220 semapv:UnspecifiedMatching +GARD:20202 Mixed germ cell tumor skos:exactMatch Orphanet:180234 semapv:UnspecifiedMatching +GARD:20203 Benign tumor of fallopian tubes skos:exactMatch Orphanet:180237 semapv:UnspecifiedMatching +GARD:20204 Malignant tumor of fallopian tubes skos:exactMatch Orphanet:180242 semapv:UnspecifiedMatching +GARD:20205 Rare breast tumor skos:exactMatch Orphanet:180250 semapv:UnspecifiedMatching +GARD:20206 Giant adenofibroma of the breast skos:exactMatch Orphanet:180267 semapv:UnspecifiedMatching +GARD:20207 Rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 semapv:UnspecifiedMatching +GARD:20208 Rare vulvovaginal tumor skos:exactMatch Orphanet:180312 semapv:UnspecifiedMatching +GARD:20209 Malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 semapv:UnspecifiedMatching +GARD:20211 Non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 semapv:UnspecifiedMatching +GARD:20212 Syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 semapv:UnspecifiedMatching +GARD:20213 Rare gastroesophageal tumor skos:exactMatch Orphanet:180821 semapv:UnspecifiedMatching +GARD:20214 Rare insulin-resistance syndrome skos:exactMatch Orphanet:181368 semapv:UnspecifiedMatching +GARD:20215 Rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 semapv:UnspecifiedMatching +GARD:20216 Rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 semapv:UnspecifiedMatching +GARD:20217 Other rare diabetes mellitus skos:exactMatch Orphanet:181381 semapv:UnspecifiedMatching +GARD:20218 Rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 semapv:UnspecifiedMatching +GARD:20219 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 semapv:UnspecifiedMatching +GARD:2022 Dysplastic cortical hyperostosis skos:exactMatch Orphanet:2204 semapv:UnspecifiedMatching +GARD:20220 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature skos:exactMatch Orphanet:181390 semapv:UnspecifiedMatching +GARD:20221 Rare hypothyroidism skos:exactMatch Orphanet:181396 semapv:UnspecifiedMatching +GARD:20222 Rare hyperthyroidism skos:exactMatch Orphanet:181399 semapv:UnspecifiedMatching +GARD:20223 Syndrome with hypoparathyroidism skos:exactMatch Orphanet:181402 semapv:UnspecifiedMatching +GARD:20224 Rare hypoparathyroidism skos:exactMatch Orphanet:181405 semapv:UnspecifiedMatching +GARD:20225 Rare hyperparathyroidism skos:exactMatch Orphanet:181408 semapv:UnspecifiedMatching +GARD:20226 Adrenogenital syndrome skos:exactMatch Orphanet:181412 semapv:UnspecifiedMatching +GARD:20227 Rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 semapv:UnspecifiedMatching +GARD:20228 Rare hypoaldosteronism skos:exactMatch Orphanet:181419 semapv:UnspecifiedMatching +GARD:20229 Rare hyperlipidemia skos:exactMatch Orphanet:181422 semapv:UnspecifiedMatching +GARD:20230 Hyperalphalipoproteinemia skos:exactMatch Orphanet:181428 semapv:UnspecifiedMatching +GARD:20231 Rare hypolipidemia skos:exactMatch Orphanet:181431 semapv:UnspecifiedMatching +GARD:20232 Rare syndromic dyslipidemia skos:exactMatch Orphanet:181437 semapv:UnspecifiedMatching +GARD:20233 Rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 semapv:UnspecifiedMatching +GARD:20234 Aplastic anemia skos:exactMatch Orphanet:182040 semapv:UnspecifiedMatching +GARD:20235 Rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 semapv:UnspecifiedMatching +GARD:20236 Rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 semapv:UnspecifiedMatching +GARD:20237 Rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 semapv:UnspecifiedMatching +GARD:20238 Cerebellar malformation skos:exactMatch Orphanet:182061 semapv:UnspecifiedMatching +GARD:20239 Rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 semapv:UnspecifiedMatching +GARD:20240 Rare neurodegenerative disease skos:exactMatch Orphanet:182070 semapv:UnspecifiedMatching +GARD:20241 ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 semapv:UnspecifiedMatching +GARD:20242 Channelopathy with epilepsy skos:exactMatch Orphanet:182083 semapv:UnspecifiedMatching +GARD:20243 Acquired peripheral neuropathy skos:exactMatch Orphanet:182086 semapv:UnspecifiedMatching +GARD:20244 Interstitial lung disease skos:exactMatch Orphanet:182095 semapv:UnspecifiedMatching +GARD:20245 Pneumoconiosis skos:exactMatch Orphanet:182098 semapv:UnspecifiedMatching +GARD:20246 Idiopathic eosinophilic pneumonia skos:exactMatch Orphanet:182101 semapv:UnspecifiedMatching +GARD:20247 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease skos:exactMatch Orphanet:182104 semapv:UnspecifiedMatching +GARD:20248 Thoracic malformation skos:exactMatch Orphanet:182108 semapv:UnspecifiedMatching +GARD:20249 Respiratory malformation skos:exactMatch Orphanet:182111 semapv:UnspecifiedMatching +GARD:20250 Rare urogenital tumor skos:exactMatch Orphanet:182114 semapv:UnspecifiedMatching +GARD:20251 Non-syndromic urogenital tract malformation of female skos:exactMatch Orphanet:182117 semapv:UnspecifiedMatching +GARD:20252 Non-syndromic urogenital tract malformation of male skos:exactMatch Orphanet:182121 semapv:UnspecifiedMatching +GARD:20253 Non-syndromic urogenital tract malformation of male and female skos:exactMatch Orphanet:182124 semapv:UnspecifiedMatching +GARD:20254 Tumor of endocrine glands skos:exactMatch Orphanet:182130 semapv:UnspecifiedMatching +GARD:20255 Rare systemic disease skos:exactMatch Orphanet:182222 semapv:UnspecifiedMatching +GARD:20256 Systemic autoimmune disease skos:exactMatch Orphanet:182228 semapv:UnspecifiedMatching +GARD:20257 Rare rheumatologic disease skos:exactMatch Orphanet:182231 semapv:UnspecifiedMatching +GARD:20258 Genetic urticaria skos:exactMatch Orphanet:182734 semapv:UnspecifiedMatching +GARD:20259 Polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 semapv:UnspecifiedMatching +GARD:2026 Dyssegmental dysplasia, Silverman-Handmaker type skos:exactMatch Orphanet:1865 semapv:UnspecifiedMatching +GARD:2026 Dyssegmental dysplasia, Silverman-Handmaker type skos:narrowMatch OMIM:224410 semapv:UnspecifiedMatching +GARD:20260 Genetic epidermal disorder skos:exactMatch Orphanet:183426 semapv:UnspecifiedMatching +GARD:20261 Inherited ichthyosis skos:exactMatch Orphanet:183435 semapv:UnspecifiedMatching +GARD:20262 Genetic erythrokeratoderma skos:exactMatch Orphanet:183438 semapv:UnspecifiedMatching +GARD:20263 Genetic acrokeratoderma skos:exactMatch Orphanet:183441 semapv:UnspecifiedMatching +GARD:20264 Genetic porokeratosis skos:exactMatch Orphanet:183444 semapv:UnspecifiedMatching +GARD:20265 Genetic epidermal appendage anomaly skos:exactMatch Orphanet:183447 semapv:UnspecifiedMatching +GARD:20266 Genetic hair anomaly skos:exactMatch Orphanet:183450 semapv:UnspecifiedMatching +GARD:20267 Genetic nail anomaly skos:exactMatch Orphanet:183454 semapv:UnspecifiedMatching +GARD:20268 Genetic sebaceous gland anomaly skos:exactMatch Orphanet:183460 semapv:UnspecifiedMatching +GARD:20269 Genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 semapv:UnspecifiedMatching +GARD:2027 Early-onset generalized limb-onset dystonia skos:exactMatch Orphanet:256 semapv:UnspecifiedMatching +GARD:2027 Early-onset generalized limb-onset dystonia skos:narrowMatch OMIM:128100 semapv:UnspecifiedMatching +GARD:2027 Early-onset generalized limb-onset dystonia skos:narrowMatch OMIM:602554 semapv:UnspecifiedMatching +GARD:20270 Genetic hyperpigmentation of the skin skos:exactMatch Orphanet:183466 semapv:UnspecifiedMatching +GARD:20271 Genetic hypopigmentation of the skin skos:exactMatch Orphanet:183469 semapv:UnspecifiedMatching +GARD:20272 Genetic dermis disorder skos:exactMatch Orphanet:183472 semapv:UnspecifiedMatching +GARD:20273 Genetic skin vascular disorder skos:exactMatch Orphanet:183478 semapv:UnspecifiedMatching +GARD:20274 Genetic mixed dermis disorder skos:exactMatch Orphanet:183481 semapv:UnspecifiedMatching +GARD:20275 Genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 semapv:UnspecifiedMatching +GARD:20276 Genetic skin tumor or hamartoma skos:exactMatch Orphanet:183487 semapv:UnspecifiedMatching +GARD:20277 Genetic photodermatosis skos:exactMatch Orphanet:183490 semapv:UnspecifiedMatching +GARD:20278 Genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 semapv:UnspecifiedMatching +GARD:20279 Genetic neuromuscular disease skos:exactMatch Orphanet:183497 semapv:UnspecifiedMatching +GARD:2028 Primary dystonia, DYT2 type skos:exactMatch Orphanet:99657 semapv:UnspecifiedMatching +GARD:2028 Primary dystonia, DYT2 type skos:narrowMatch OMIM:224500 semapv:UnspecifiedMatching +GARD:20280 Genetic neurodegenerative disease skos:exactMatch Orphanet:183500 semapv:UnspecifiedMatching +GARD:20281 Genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 semapv:UnspecifiedMatching +GARD:20282 Genetic central nervous system malformation skos:exactMatch Orphanet:183506 semapv:UnspecifiedMatching +GARD:20283 Rare genetic headache skos:exactMatch Orphanet:183509 semapv:UnspecifiedMatching +GARD:20284 Rare genetic epilepsy skos:exactMatch Orphanet:183512 semapv:UnspecifiedMatching +GARD:20285 Rare genetic medullar disease skos:exactMatch Orphanet:183515 semapv:UnspecifiedMatching +GARD:20286 Rare hereditary ataxia skos:exactMatch Orphanet:183518 semapv:UnspecifiedMatching +GARD:20287 Rare genetic movement disorder skos:exactMatch Orphanet:183521 semapv:UnspecifiedMatching +GARD:20288 Rare genetic bone disease skos:exactMatch Orphanet:183524 semapv:UnspecifiedMatching +GARD:20289 Genetic bone tumor skos:exactMatch Orphanet:183527 semapv:UnspecifiedMatching +GARD:20290 Rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 semapv:UnspecifiedMatching +GARD:20291 Genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 semapv:UnspecifiedMatching +GARD:20292 Genetic congenital limb malformation skos:exactMatch Orphanet:183536 semapv:UnspecifiedMatching +GARD:20293 Genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 semapv:UnspecifiedMatching +GARD:20294 Genetic cranial malformation skos:exactMatch Orphanet:183542 semapv:UnspecifiedMatching +GARD:20295 Genetic digestive tract malformation skos:exactMatch Orphanet:183545 semapv:UnspecifiedMatching +GARD:20296 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 semapv:UnspecifiedMatching +GARD:20297 Genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 semapv:UnspecifiedMatching +GARD:20298 Genetic developmental defect of the eye skos:exactMatch Orphanet:183557 semapv:UnspecifiedMatching +GARD:20299 Genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 semapv:UnspecifiedMatching +GARD:20300 Genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 semapv:UnspecifiedMatching +GARD:20301 Genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 semapv:UnspecifiedMatching +GARD:20302 Genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 semapv:UnspecifiedMatching +GARD:20303 Genetic head and neck malformation skos:exactMatch Orphanet:183583 semapv:UnspecifiedMatching +GARD:20304 Genetic glomerular disease skos:exactMatch Orphanet:183586 semapv:UnspecifiedMatching +GARD:20305 Genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 semapv:UnspecifiedMatching +GARD:20306 Genetic renal tubular disease skos:exactMatch Orphanet:183592 semapv:UnspecifiedMatching +GARD:20307 Genetic renal tumor skos:exactMatch Orphanet:183595 semapv:UnspecifiedMatching +GARD:20308 Genetic lens and zonula anomaly skos:exactMatch Orphanet:183607 semapv:UnspecifiedMatching +GARD:20309 Genetic neuro-ophthalmological disease skos:exactMatch Orphanet:183616 semapv:UnspecifiedMatching +GARD:2031 Qualitative or quantitative defects of dystrophin skos:exactMatch Orphanet:207085 semapv:UnspecifiedMatching +GARD:20310 Genetic eye tumor skos:exactMatch Orphanet:183619 semapv:UnspecifiedMatching +GARD:20311 Genetic respiratory malformation skos:exactMatch Orphanet:183622 semapv:UnspecifiedMatching +GARD:20312 Rare genetic diabetes mellitus skos:exactMatch Orphanet:183625 semapv:UnspecifiedMatching +GARD:20313 Rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 semapv:UnspecifiedMatching +GARD:20314 Rare genetic thyroid disease skos:exactMatch Orphanet:183631 semapv:UnspecifiedMatching +GARD:20315 Rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 semapv:UnspecifiedMatching +GARD:20316 Rare genetic adrenal disease skos:exactMatch Orphanet:183637 semapv:UnspecifiedMatching +GARD:20317 Genetic polyendocrinopathy skos:exactMatch Orphanet:183643 semapv:UnspecifiedMatching +GARD:20318 Rare constitutional anemia skos:exactMatch Orphanet:183651 semapv:UnspecifiedMatching +GARD:20319 Rare genetic coagulation disorder skos:exactMatch Orphanet:183654 semapv:UnspecifiedMatching +GARD:20320 Agammaglobulinemia skos:exactMatch Orphanet:183669 semapv:UnspecifiedMatching +GARD:20321 Functional neutrophil defect skos:exactMatch Orphanet:183681 semapv:UnspecifiedMatching +GARD:20322 Genetic susceptibility to infections due to particular pathogens skos:exactMatch Orphanet:183710 semapv:UnspecifiedMatching +GARD:20323 Rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 semapv:UnspecifiedMatching +GARD:20324 Genetic gynecological tumor skos:exactMatch Orphanet:183734 semapv:UnspecifiedMatching +GARD:20325 Rare genetic intellectual disability skos:exactMatch Orphanet:183757 semapv:UnspecifiedMatching +GARD:20326 Rare genetic syndromic intellectual disability skos:exactMatch Orphanet:183763 semapv:UnspecifiedMatching +GARD:20327 Rare genetic immune disease skos:exactMatch Orphanet:183770 semapv:UnspecifiedMatching +GARD:20328 Superficial fibromatosis skos:exactMatch Orphanet:199257 semapv:UnspecifiedMatching +GARD:20329 Calcifying aponeurotic fibroma skos:exactMatch Orphanet:199260 semapv:UnspecifiedMatching +GARD:2033 Ear-patella-short stature syndrome skos:exactMatch Orphanet:2554 semapv:UnspecifiedMatching +GARD:2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:224690 semapv:UnspecifiedMatching +GARD:2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:613800 semapv:UnspecifiedMatching +GARD:2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:613803 semapv:UnspecifiedMatching +GARD:2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:613804 semapv:UnspecifiedMatching +GARD:2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:613805 semapv:UnspecifiedMatching +GARD:2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:616835 semapv:UnspecifiedMatching +GARD:2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:617063 semapv:UnspecifiedMatching +GARD:20330 Congenital microgastria skos:exactMatch Orphanet:199293 semapv:UnspecifiedMatching +GARD:20331 Late-onset isolated ACTH deficiency skos:exactMatch Orphanet:199299 semapv:UnspecifiedMatching +GARD:20332 Tetragametic chimerism skos:exactMatch Orphanet:199310 semapv:UnspecifiedMatching +GARD:20333 Endophthalmitis skos:exactMatch Orphanet:199323 semapv:UnspecifiedMatching +GARD:20334 Isolated autosomal dominant hypomagnesemia, Glaudemans type skos:exactMatch Orphanet:199326 semapv:UnspecifiedMatching +GARD:20335 Congenital myopathy, Paradas type skos:exactMatch Orphanet:199329 semapv:UnspecifiedMatching +GARD:20336 Atypical autism skos:exactMatch Orphanet:199627 semapv:UnspecifiedMatching +GARD:20337 Isolated cerebellar vermis hypoplasia skos:exactMatch Orphanet:199630 semapv:UnspecifiedMatching +GARD:20338 Non-syndromic cerebral malformation skos:exactMatch Orphanet:199633 semapv:UnspecifiedMatching +GARD:20339 Syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:199639 semapv:UnspecifiedMatching +GARD:20340 Paroxysmal dystonia skos:exactMatch Orphanet:200037 semapv:UnspecifiedMatching +GARD:20341 Anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 semapv:UnspecifiedMatching +GARD:20342 Syndromic microphthalmia-anophthalmia-coloboma skos:exactMatch Orphanet:202948 semapv:UnspecifiedMatching +GARD:20343 Infantile Krabbe disease skos:exactMatch Orphanet:206436 semapv:UnspecifiedMatching +GARD:20344 Late-infantile/juvenile Krabbe disease skos:exactMatch Orphanet:206443 semapv:UnspecifiedMatching +GARD:20345 Adult Krabbe disease skos:exactMatch Orphanet:206448 semapv:UnspecifiedMatching +GARD:20346 Cystadenoma of childhood skos:exactMatch Orphanet:206470 semapv:UnspecifiedMatching +GARD:20347 Malignant germ cell tumor of the vagina skos:exactMatch Orphanet:206489 semapv:UnspecifiedMatching +GARD:20348 Vulvovaginal rhabdomyosarcoma skos:exactMatch Orphanet:206492 semapv:UnspecifiedMatching +GARD:20349 Malignant non-dysgerminomatous germ cell tumor of ovary skos:exactMatch Orphanet:206538 semapv:UnspecifiedMatching +GARD:2035 Ebola hemorrhagic fever skos:exactMatch Orphanet:319218 semapv:UnspecifiedMatching +GARD:20350 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:exactMatch Orphanet:206546 semapv:UnspecifiedMatching +GARD:20351 Immune-mediated necrotizing myopathy skos:exactMatch Orphanet:206569 semapv:UnspecifiedMatching +GARD:20352 Overlap myositis skos:exactMatch Orphanet:206572 semapv:UnspecifiedMatching +GARD:20353 Rippling muscle disease with myasthenia gravis skos:exactMatch Orphanet:206575 semapv:UnspecifiedMatching +GARD:20354 Neurolymphomatosis skos:exactMatch Orphanet:206586 semapv:UnspecifiedMatching +GARD:20355 Subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:206594 semapv:UnspecifiedMatching +GARD:20356 Isolated asymptomatic elevation of creatine phosphokinase skos:exactMatch Orphanet:206599 semapv:UnspecifiedMatching +GARD:20357 Infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 semapv:UnspecifiedMatching +GARD:20358 Genetic skeletal muscle disease skos:exactMatch Orphanet:206634 semapv:UnspecifiedMatching +GARD:20359 Acquired skeletal muscle disease skos:exactMatch Orphanet:206638 semapv:UnspecifiedMatching +GARD:20360 Progressive muscular dystrophy skos:exactMatch Orphanet:206644 semapv:UnspecifiedMatching +GARD:20361 Autosomal dominant distal myopathy skos:exactMatch Orphanet:206650 semapv:UnspecifiedMatching +GARD:20362 Autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 semapv:UnspecifiedMatching +GARD:20363 Non-dystrophic myopathy skos:exactMatch Orphanet:206656 semapv:UnspecifiedMatching +GARD:20364 Inclusion myopathy skos:exactMatch Orphanet:206662 semapv:UnspecifiedMatching +GARD:20365 Bulbospinal muscular atrophy skos:exactMatch Orphanet:206701 semapv:UnspecifiedMatching +GARD:20366 Bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 semapv:UnspecifiedMatching +GARD:20367 Bulbospinal muscular atrophy of adult skos:exactMatch Orphanet:206707 semapv:UnspecifiedMatching +GARD:20368 Generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 semapv:UnspecifiedMatching +GARD:20369 Muscular lipidosis skos:exactMatch Orphanet:206953 semapv:UnspecifiedMatching +GARD:20370 Muscular glycogenosis skos:exactMatch Orphanet:206959 semapv:UnspecifiedMatching +GARD:20371 Mitochondrial myopathy skos:exactMatch Orphanet:206966 semapv:UnspecifiedMatching +GARD:20372 Myotonic syndrome skos:exactMatch Orphanet:206970 semapv:UnspecifiedMatching +GARD:20373 Congenital myotonia skos:exactMatch Orphanet:206973 semapv:UnspecifiedMatching +GARD:20374 Periodic paralysis skos:exactMatch Orphanet:206976 semapv:UnspecifiedMatching +GARD:20375 Muscular tumor skos:exactMatch Orphanet:206982 semapv:UnspecifiedMatching +GARD:20376 Infectious, fungal or parasitic myopathy skos:exactMatch Orphanet:206988 semapv:UnspecifiedMatching +GARD:20377 Viral myositis skos:exactMatch Orphanet:206991 semapv:UnspecifiedMatching +GARD:20378 Bacterial myositis skos:exactMatch Orphanet:206994 semapv:UnspecifiedMatching +GARD:20379 Parasitic myositis skos:exactMatch Orphanet:206997 semapv:UnspecifiedMatching +GARD:20380 Fungal myositis skos:exactMatch Orphanet:207000 semapv:UnspecifiedMatching +GARD:20381 Spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 semapv:UnspecifiedMatching +GARD:20382 Rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 semapv:UnspecifiedMatching +GARD:20383 Rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 semapv:UnspecifiedMatching +GARD:20384 Rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 semapv:UnspecifiedMatching +GARD:20385 Cerebellar ataxia with peripheral neuropathy skos:exactMatch Orphanet:207028 semapv:UnspecifiedMatching +GARD:20386 Acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 semapv:UnspecifiedMatching +GARD:20387 Malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 semapv:UnspecifiedMatching +GARD:20388 Qualitative or quantitative protein defects in neuromuscular diseases skos:exactMatch Orphanet:207049 semapv:UnspecifiedMatching +GARD:20389 Qualitative or quantitative defects of sarcoglycan skos:exactMatch Orphanet:207052 semapv:UnspecifiedMatching +GARD:20390 Qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch Orphanet:207060 semapv:UnspecifiedMatching +GARD:20391 Qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch Orphanet:207063 semapv:UnspecifiedMatching +GARD:20392 Qualitative or quantitative defects of gamma-sarcoglycan skos:exactMatch Orphanet:207067 semapv:UnspecifiedMatching +GARD:20393 Qualitative or quantitative defects of delta-sarcoglycan skos:exactMatch Orphanet:207070 semapv:UnspecifiedMatching +GARD:20394 Qualitative or quantitative defects of caveolin-3 skos:exactMatch Orphanet:207078 semapv:UnspecifiedMatching +GARD:20395 Qualitative or quantitative defects of collagen 6 skos:exactMatch Orphanet:207090 semapv:UnspecifiedMatching +GARD:20396 Laminin subunit alpha 2-related muscular dystrophy skos:exactMatch Orphanet:207094 semapv:UnspecifiedMatching +GARD:20397 Qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 semapv:UnspecifiedMatching +GARD:20398 Qualitative or quantitative defects of perlecan skos:exactMatch Orphanet:207101 semapv:UnspecifiedMatching +GARD:20399 Qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 semapv:UnspecifiedMatching +GARD:20400 Qualitative or quantitative defects of TRIM32 skos:exactMatch Orphanet:207107 semapv:UnspecifiedMatching +GARD:20401 Qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 semapv:UnspecifiedMatching +GARD:20402 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:exactMatch Orphanet:207113 semapv:UnspecifiedMatching +GARD:20403 Qualitative or quantitative defects of FKRP skos:exactMatch Orphanet:207119 semapv:UnspecifiedMatching +GARD:20404 Qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 semapv:UnspecifiedMatching +GARD:20405 Autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:208508 semapv:UnspecifiedMatching +GARD:20406 Herpetiform pemphigus skos:exactMatch Orphanet:208524 semapv:UnspecifiedMatching +GARD:20407 Genetic hypoparathyroidism skos:exactMatch Orphanet:208593 semapv:UnspecifiedMatching +GARD:20408 Genetic hyperparathyroidism skos:exactMatch Orphanet:208596 semapv:UnspecifiedMatching +GARD:20409 Chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 semapv:UnspecifiedMatching +GARD:20410 Chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 semapv:UnspecifiedMatching +GARD:20411 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies skos:exactMatch Orphanet:208981 semapv:UnspecifiedMatching +GARD:20412 Acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 semapv:UnspecifiedMatching +GARD:20413 Non-paraneoplastic sensory ganglionopathy skos:exactMatch Orphanet:208989 semapv:UnspecifiedMatching +GARD:20414 Paraneoplastic sensory ganglionopathy skos:exactMatch Orphanet:208999 semapv:UnspecifiedMatching +GARD:20415 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:exactMatch Orphanet:209004 semapv:UnspecifiedMatching +GARD:20416 Systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 semapv:UnspecifiedMatching +GARD:20417 Peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 semapv:UnspecifiedMatching +GARD:20418 Acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 semapv:UnspecifiedMatching +GARD:20419 Hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 semapv:UnspecifiedMatching +GARD:20420 Solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 semapv:UnspecifiedMatching +GARD:20421 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 semapv:UnspecifiedMatching +GARD:20422 Qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 semapv:UnspecifiedMatching +GARD:20423 Qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:exactMatch Orphanet:209030 semapv:UnspecifiedMatching +GARD:20424 Qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:exactMatch Orphanet:209033 semapv:UnspecifiedMatching +GARD:20425 Qualitative or quantitative defects of myofibrillar proteins skos:exactMatch Orphanet:209038 semapv:UnspecifiedMatching +GARD:20426 Qualitative or quantitative defects of desmin skos:exactMatch Orphanet:209041 semapv:UnspecifiedMatching +GARD:20427 Qualitative or quantitative defects of alphaB-cristallin skos:exactMatch Orphanet:209044 semapv:UnspecifiedMatching +GARD:20428 Qualitative or quantitative defects of filamin C skos:exactMatch Orphanet:209047 semapv:UnspecifiedMatching +GARD:20429 Qualitative or quantitative defects of protein ZASP skos:exactMatch Orphanet:209050 semapv:UnspecifiedMatching +GARD:20430 Qualitative or quantitative defects of titin skos:exactMatch Orphanet:209053 semapv:UnspecifiedMatching +GARD:20431 Qualitative or quantitative defects of telethonin skos:exactMatch Orphanet:209056 semapv:UnspecifiedMatching +GARD:20432 Qualitative or quantitative defects of alpha-actin skos:exactMatch Orphanet:209059 semapv:UnspecifiedMatching +GARD:20433 Qualitative or quantitative defects of nebulin skos:exactMatch Orphanet:209182 semapv:UnspecifiedMatching +GARD:20434 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:exactMatch Orphanet:209185 semapv:UnspecifiedMatching +GARD:20435 Qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 semapv:UnspecifiedMatching +GARD:20436 Qualitative or quantitative defects of selenoprotein N1 skos:exactMatch Orphanet:209193 semapv:UnspecifiedMatching +GARD:20437 Qualitative or quantitative defects of plectin skos:exactMatch Orphanet:209196 semapv:UnspecifiedMatching +GARD:20438 Qualitative or quantitative defects of protein SERCA1 skos:exactMatch Orphanet:209199 semapv:UnspecifiedMatching +GARD:20439 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - skos:exactMatch Orphanet:209203 semapv:UnspecifiedMatching +GARD:2044 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch Orphanet:1816 semapv:UnspecifiedMatching +GARD:2044 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:narrowMatch OMIM:246500 semapv:UnspecifiedMatching +GARD:20440 Myotilinopathy skos:exactMatch Orphanet:209224 semapv:UnspecifiedMatching +GARD:20441 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:exactMatch Orphanet:209902 semapv:UnspecifiedMatching +GARD:20442 Idiopathic uveal effusion syndrome skos:exactMatch Orphanet:209956 semapv:UnspecifiedMatching +GARD:20443 Phacoanaphylactic uveitis skos:exactMatch Orphanet:209959 semapv:UnspecifiedMatching +GARD:20444 Solitary rectal ulcer syndrome skos:exactMatch Orphanet:209964 semapv:UnspecifiedMatching +GARD:20445 Benign nocturnal alternating hemiplegia of childhood skos:exactMatch Orphanet:209973 semapv:UnspecifiedMatching +GARD:20446 Alternating hemiplegia skos:exactMatch Orphanet:209978 semapv:UnspecifiedMatching +GARD:20447 Non-papillary transitional cell carcinoma of the bladder skos:exactMatch Orphanet:209989 semapv:UnspecifiedMatching +GARD:20448 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:exactMatch Orphanet:210133 semapv:UnspecifiedMatching +GARD:20449 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:exactMatch Orphanet:210136 semapv:UnspecifiedMatching +GARD:2045 Ectodermal dysplasia-blindness syndrome skos:exactMatch Orphanet:1806 semapv:UnspecifiedMatching +GARD:2045 Ectodermal dysplasia-blindness syndrome skos:narrowMatch OMIM:268320 semapv:UnspecifiedMatching +GARD:20450 Congenital temporomandibular joint ankylosis skos:exactMatch Orphanet:210576 semapv:UnspecifiedMatching +GARD:20451 Temporomandibular joint anomaly skos:exactMatch Orphanet:210581 semapv:UnspecifiedMatching +GARD:20452 Spindle cell hemangioma skos:exactMatch Orphanet:210584 semapv:UnspecifiedMatching +GARD:20453 Infantile hemangioma of rare localization skos:exactMatch Orphanet:210589 semapv:UnspecifiedMatching +GARD:20454 Autosomal dominant proximal spinal muscular atrophy skos:exactMatch Orphanet:211037 semapv:UnspecifiedMatching +GARD:20455 Specific learning disability skos:exactMatch Orphanet:211047 semapv:UnspecifiedMatching +GARD:20456 Specific language disorder skos:exactMatch Orphanet:211053 semapv:UnspecifiedMatching +GARD:20457 Hereditary episodic ataxia skos:exactMatch Orphanet:211062 semapv:UnspecifiedMatching +GARD:20458 Rare vascular tumor skos:exactMatch Orphanet:211237 semapv:UnspecifiedMatching +GARD:20459 Genetic vascular anomaly skos:exactMatch Orphanet:211240 semapv:UnspecifiedMatching +GARD:20460 Simple vascular malformation skos:exactMatch Orphanet:211243 semapv:UnspecifiedMatching +GARD:20461 Rare capillary malformation skos:exactMatch Orphanet:211247 semapv:UnspecifiedMatching +GARD:20462 Rare venous malformation skos:exactMatch Orphanet:211252 semapv:UnspecifiedMatching +GARD:20463 Rare lymphatic system anomaly skos:exactMatch Orphanet:211255 semapv:UnspecifiedMatching +GARD:20464 Rare arteriovenous malformation skos:exactMatch Orphanet:211266 semapv:UnspecifiedMatching +GARD:20465 Complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 semapv:UnspecifiedMatching +GARD:20466 Adenocarcinoma of ovary skos:exactMatch Orphanet:213504 semapv:UnspecifiedMatching +GARD:20467 Familial ovarian cancer skos:exactMatch Orphanet:213517 semapv:UnspecifiedMatching +GARD:20468 Hereditary site-specific ovarian cancer syndrome skos:exactMatch Orphanet:213524 semapv:UnspecifiedMatching +GARD:20469 Rare uterine cancer skos:exactMatch Orphanet:213564 semapv:UnspecifiedMatching +GARD:20470 Rare cancer of corpus uteri skos:exactMatch Orphanet:213569 semapv:UnspecifiedMatching +GARD:20471 Rare variants of adenocarcinoma of the corpus uteri skos:exactMatch Orphanet:213574 semapv:UnspecifiedMatching +GARD:20472 Malignant mixed epithelial and mesenchymal tumor of corpus uteri skos:exactMatch Orphanet:213589 semapv:UnspecifiedMatching +GARD:20473 Adenosarcoma of the corpus uteri skos:exactMatch Orphanet:213600 semapv:UnspecifiedMatching +GARD:20474 Carcinofibroma of the corpus uteri skos:exactMatch Orphanet:213605 semapv:UnspecifiedMatching +GARD:20475 Rhabdomyosarcoma of the corpus uteri skos:exactMatch Orphanet:213615 semapv:UnspecifiedMatching +GARD:20476 Sarcoma of the corpus uteri skos:exactMatch Orphanet:213620 semapv:UnspecifiedMatching +GARD:20477 Leiomyosarcoma of the corpus uteri skos:exactMatch Orphanet:213625 semapv:UnspecifiedMatching +GARD:20478 Primitive neuroectodermal tumor of the corpus uteri skos:exactMatch Orphanet:213630 semapv:UnspecifiedMatching +GARD:20479 Squamous cell carcinoma of the corpus uteri skos:exactMatch Orphanet:213716 semapv:UnspecifiedMatching +GARD:2048 Autosomal dominant hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:1810 semapv:UnspecifiedMatching +GARD:2048 Autosomal dominant hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:129490 semapv:UnspecifiedMatching +GARD:2048 Autosomal dominant hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614940 semapv:UnspecifiedMatching +GARD:2048 Autosomal dominant hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:617337 semapv:UnspecifiedMatching +GARD:20480 Undifferentiated carcinoma of the corpus uteri skos:exactMatch Orphanet:213721 semapv:UnspecifiedMatching +GARD:20481 Serous carcinoma of the corpus uteri skos:exactMatch Orphanet:213726 semapv:UnspecifiedMatching +GARD:20482 High-grade neuroendocrine carcinoma of the corpus uteri skos:exactMatch Orphanet:213731 semapv:UnspecifiedMatching +GARD:20483 Low-grade neuroendocrine tumor of the corpus uteri skos:exactMatch Orphanet:213736 semapv:UnspecifiedMatching +GARD:20484 Transitional cell carcinoma of the corpus uteri skos:exactMatch Orphanet:213746 semapv:UnspecifiedMatching +GARD:20485 Malignant germ cell tumor of the corpus uteri skos:exactMatch Orphanet:213751 semapv:UnspecifiedMatching +GARD:20486 Rare cancer of cervix uteri skos:exactMatch Orphanet:213761 semapv:UnspecifiedMatching +GARD:20487 Squamous cell carcinoma of the cervix uteri skos:exactMatch Orphanet:213767 semapv:UnspecifiedMatching +GARD:20488 Adenocarcinoma of the cervix uteri skos:exactMatch Orphanet:213772 semapv:UnspecifiedMatching +GARD:20489 High-grade neuroendocrine carcinoma of the cervix uteri skos:exactMatch Orphanet:213777 semapv:UnspecifiedMatching +GARD:2049 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch Orphanet:1882 semapv:UnspecifiedMatching +GARD:2049 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:narrowMatch OMIM:225050 semapv:UnspecifiedMatching +GARD:20490 Malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:exactMatch Orphanet:213782 semapv:UnspecifiedMatching +GARD:20491 Carcinosarcoma of the cervix uteri skos:exactMatch Orphanet:213787 semapv:UnspecifiedMatching +GARD:20492 Adenosarcoma of the cervix uteri skos:exactMatch Orphanet:213792 semapv:UnspecifiedMatching +GARD:20493 Sarcoma of cervix uteri skos:exactMatch Orphanet:213797 semapv:UnspecifiedMatching +GARD:20494 Rhabdomyosarcoma of the cervix uteri skos:exactMatch Orphanet:213802 semapv:UnspecifiedMatching +GARD:20495 Leiomyosarcoma of the cervix uteri skos:exactMatch Orphanet:213807 semapv:UnspecifiedMatching +GARD:20496 Primitive neuroectodermal tumor of the cervix uteri skos:exactMatch Orphanet:213812 semapv:UnspecifiedMatching +GARD:20497 Papillary carcinoma of the cervix uteri skos:exactMatch Orphanet:213817 semapv:UnspecifiedMatching +GARD:20498 Adenoid cystic carcinoma of the cervix uteri skos:exactMatch Orphanet:213823 semapv:UnspecifiedMatching +GARD:20499 Adenoid basal carcinoma of the cervix uteri skos:exactMatch Orphanet:213828 semapv:UnspecifiedMatching +GARD:20500 Glassy cell carcinoma of the cervix uteri skos:exactMatch Orphanet:213833 semapv:UnspecifiedMatching +GARD:20501 Malignant germ cell tumor of the cervix uteri skos:exactMatch Orphanet:213837 semapv:UnspecifiedMatching +GARD:20502 Isolated congenitally uncorrected transposition of the great arteries skos:exactMatch Orphanet:216718 semapv:UnspecifiedMatching +GARD:20503 Congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch Orphanet:216729 semapv:UnspecifiedMatching +GARD:20504 Niemann-Pick disease type C, severe perinatal form skos:exactMatch Orphanet:216972 semapv:UnspecifiedMatching +GARD:20505 Niemann-Pick disease type C, severe early infantile neurologic onset skos:exactMatch Orphanet:216975 semapv:UnspecifiedMatching +GARD:20506 Niemann-Pick disease type C, late infantile neurologic onset skos:exactMatch Orphanet:216978 semapv:UnspecifiedMatching +GARD:20507 Niemann-Pick disease type C, juvenile neurologic onset skos:exactMatch Orphanet:216981 semapv:UnspecifiedMatching +GARD:20508 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch Orphanet:216986 semapv:UnspecifiedMatching +GARD:20509 5-fluorouracil poisoning skos:exactMatch Orphanet:217064 semapv:UnspecifiedMatching +GARD:20510 Pouchitis skos:exactMatch Orphanet:217067 semapv:UnspecifiedMatching +GARD:20511 Rare carcinoma of pancreas skos:exactMatch Orphanet:217074 semapv:UnspecifiedMatching +GARD:20512 Pulmonary fungal infections in patients deemed at risk skos:exactMatch Orphanet:217080 semapv:UnspecifiedMatching +GARD:20513 NMDA receptor encephalitis skos:exactMatch Orphanet:217253 semapv:UnspecifiedMatching +GARD:20514 Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation skos:exactMatch Orphanet:217399 semapv:UnspecifiedMatching +GARD:20515 Rare hereditary thrombophilia skos:exactMatch Orphanet:217454 semapv:UnspecifiedMatching +GARD:20516 Pulmonary interstitial glycogenosis skos:exactMatch Orphanet:217557 semapv:UnspecifiedMatching +GARD:20517 Neuroendocrine cell hyperplasia of infancy skos:exactMatch Orphanet:217560 semapv:UnspecifiedMatching +GARD:20518 Rare hypertrophic cardiomyopathy skos:exactMatch Orphanet:217569 semapv:UnspecifiedMatching +GARD:20519 Glycogen storage disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217572 semapv:UnspecifiedMatching +GARD:20520 Lysosomal disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217581 semapv:UnspecifiedMatching +GARD:20521 Mitochondrial disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217587 semapv:UnspecifiedMatching +GARD:20522 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217591 semapv:UnspecifiedMatching +GARD:20523 Syndrome associated with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217595 semapv:UnspecifiedMatching +GARD:20524 Non-familial hypertrophic cardiomyopathy skos:exactMatch Orphanet:217598 semapv:UnspecifiedMatching +GARD:20525 Familial dilated cardiomyopathy skos:exactMatch Orphanet:217607 semapv:UnspecifiedMatching +GARD:20526 Neuromuscular disease with dilated cardiomyopathy skos:exactMatch Orphanet:217610 semapv:UnspecifiedMatching +GARD:20527 Mitochondrial disease with dilated cardiomyopathy skos:exactMatch Orphanet:217613 semapv:UnspecifiedMatching +GARD:20528 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy skos:exactMatch Orphanet:217616 semapv:UnspecifiedMatching +GARD:20529 Syndrome associated with dilated cardiomyopathy skos:exactMatch Orphanet:217619 semapv:UnspecifiedMatching +GARD:20530 Non-familial dilated cardiomyopathy skos:exactMatch Orphanet:217629 semapv:UnspecifiedMatching +GARD:20531 Restrictive cardiomyopathy skos:exactMatch Orphanet:217632 semapv:UnspecifiedMatching +GARD:20532 Familial restrictive cardiomyopathy skos:exactMatch Orphanet:217635 semapv:UnspecifiedMatching +GARD:20533 Lysosomal disease with restrictive cardiomyopathy skos:exactMatch Orphanet:217638 semapv:UnspecifiedMatching +GARD:20534 Unclassified cardiomyopathy skos:exactMatch Orphanet:217678 semapv:UnspecifiedMatching +GARD:20535 Non-familial restrictive cardiomyopathy skos:exactMatch Orphanet:217720 semapv:UnspecifiedMatching +GARD:20536 Rare cardiac rhythm disease skos:exactMatch Orphanet:218436 semapv:UnspecifiedMatching +GARD:20537 Non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 semapv:UnspecifiedMatching +GARD:20538 Macrothrombocytopenia with mitral valve insufficiency skos:exactMatch Orphanet:220448 semapv:UnspecifiedMatching +GARD:20539 Isolated hereditary giant platelet disorder skos:exactMatch Orphanet:220452 semapv:UnspecifiedMatching +GARD:20540 Rare hereditary hemochromatosis skos:exactMatch Orphanet:220489 semapv:UnspecifiedMatching +GARD:20541 Combined hyperactive dysfunction syndrome of the cranial nerves skos:exactMatch Orphanet:221078 semapv:UnspecifiedMatching +GARD:20542 Cranial neuralgia skos:exactMatch Orphanet:221109 semapv:UnspecifiedMatching +GARD:20543 Acquired peripheral movement disorder skos:exactMatch Orphanet:221114 semapv:UnspecifiedMatching +GARD:20544 Confetti-like macular atrophy skos:exactMatch Orphanet:221142 semapv:UnspecifiedMatching +GARD:20545 Hereditary poikiloderma skos:exactMatch Orphanet:222628 semapv:UnspecifiedMatching +GARD:20546 Mitochondrial oxidative phosphorylation disorder skos:exactMatch Orphanet:223713 semapv:UnspecifiedMatching +GARD:20547 Bone sarcoma skos:exactMatch Orphanet:223727 semapv:UnspecifiedMatching +GARD:20548 Lymphoma skos:exactMatch Orphanet:223735 semapv:UnspecifiedMatching +GARD:20549 Sporadic infantile bilateral striatal necrosis skos:exactMatch Orphanet:225147 semapv:UnspecifiedMatching +GARD:2055 Ectodermal dysplasia, trichoodontoonychial type skos:exactMatch Orphanet:1818 semapv:UnspecifiedMatching +GARD:2055 Ectodermal dysplasia, trichoodontoonychial type skos:narrowMatch OMIM:129510 semapv:UnspecifiedMatching +GARD:20550 Lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 semapv:UnspecifiedMatching +GARD:20551 Peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 semapv:UnspecifiedMatching +GARD:20552 Amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 semapv:UnspecifiedMatching +GARD:20553 Metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 semapv:UnspecifiedMatching +GARD:20554 Energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 semapv:UnspecifiedMatching +GARD:20555 Mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 semapv:UnspecifiedMatching +GARD:20556 Mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 semapv:UnspecifiedMatching +GARD:20557 Metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 semapv:UnspecifiedMatching +GARD:20558 Sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 semapv:UnspecifiedMatching +GARD:20559 Other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 semapv:UnspecifiedMatching +GARD:2056 Hidrotic ectodermal dysplasia skos:exactMatch Orphanet:189 semapv:UnspecifiedMatching +GARD:2056 Hidrotic ectodermal dysplasia skos:narrowMatch OMIM:129500 semapv:UnspecifiedMatching +GARD:20560 Permanent congenital hypothyroidism skos:exactMatch Orphanet:226292 semapv:UnspecifiedMatching +GARD:20561 Primary congenital hypothyroidism skos:exactMatch Orphanet:226295 semapv:UnspecifiedMatching +GARD:20562 Hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:exactMatch Orphanet:226307 semapv:UnspecifiedMatching +GARD:20563 Congenital hypothyroidism due to maternal intake of antithyroid drugs skos:exactMatch Orphanet:226313 semapv:UnspecifiedMatching +GARD:20564 Genetic transient congenital hypothyroidism skos:exactMatch Orphanet:226316 semapv:UnspecifiedMatching +GARD:20565 Multiple system atrophy, cerebellar type skos:exactMatch Orphanet:227510 semapv:UnspecifiedMatching +GARD:20566 Toxic oil syndrome skos:exactMatch Orphanet:227972 semapv:UnspecifiedMatching +GARD:20567 Autoimmune polyendocrinopathy type 4 skos:exactMatch Orphanet:227990 semapv:UnspecifiedMatching +GARD:20568 Anal fistula skos:exactMatch Orphanet:228113 semapv:UnspecifiedMatching +GARD:20569 Hughes-Stovin syndrome skos:exactMatch Orphanet:228116 semapv:UnspecifiedMatching +GARD:2057 Autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:248 semapv:UnspecifiedMatching +GARD:2057 Autosomal recessive hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:224900 semapv:UnspecifiedMatching +GARD:2057 Autosomal recessive hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614941 semapv:UnspecifiedMatching +GARD:2057 Autosomal recessive hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:618535 semapv:UnspecifiedMatching +GARD:20570 Fusariosis skos:exactMatch Orphanet:228119 semapv:UnspecifiedMatching +GARD:20571 Multiple sclerosis variant skos:exactMatch Orphanet:228145 semapv:UnspecifiedMatching +GARD:20572 Marburg acute multiple sclerosis skos:exactMatch Orphanet:228157 semapv:UnspecifiedMatching +GARD:20573 Heart-hand syndrome skos:exactMatch Orphanet:228184 semapv:UnspecifiedMatching +GARD:20574 Genetic dermis elastic tissue disorder skos:exactMatch Orphanet:228215 semapv:UnspecifiedMatching +GARD:20575 Acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 semapv:UnspecifiedMatching +GARD:20576 Acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 semapv:UnspecifiedMatching +GARD:20577 Acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 semapv:UnspecifiedMatching +GARD:20578 Late-onset focal dermal elastosis skos:exactMatch Orphanet:228227 semapv:UnspecifiedMatching +GARD:20579 Linear focal elastosis skos:exactMatch Orphanet:228236 semapv:UnspecifiedMatching +GARD:20580 Elastofibroma dorsi skos:exactMatch Orphanet:228243 semapv:UnspecifiedMatching +GARD:20581 Acquired pseudoxanthoma elasticum skos:exactMatch Orphanet:228247 semapv:UnspecifiedMatching +GARD:20582 Elastoma skos:exactMatch Orphanet:228254 semapv:UnspecifiedMatching +GARD:20583 Papular elastorrhexis skos:exactMatch Orphanet:228264 semapv:UnspecifiedMatching +GARD:20584 Primary anetoderma skos:exactMatch Orphanet:228272 semapv:UnspecifiedMatching +GARD:20585 Familial anetoderma skos:exactMatch Orphanet:228277 semapv:UnspecifiedMatching +GARD:20586 Acquired cutis laxa skos:exactMatch Orphanet:228285 semapv:UnspecifiedMatching +GARD:20587 White fibrous papulosis of the neck skos:exactMatch Orphanet:228290 semapv:UnspecifiedMatching +GARD:20588 Pseudoxanthoma elasticum-like papillary dermal elastolysis skos:exactMatch Orphanet:228293 semapv:UnspecifiedMatching +GARD:20589 Mid-dermal elastolysis skos:exactMatch Orphanet:228299 semapv:UnspecifiedMatching +GARD:20590 Autoimmune hemolytic anemia, cold type skos:exactMatch Orphanet:228312 semapv:UnspecifiedMatching +GARD:20591 Foodborne botulism skos:exactMatch Orphanet:228371 semapv:UnspecifiedMatching +GARD:20592 Virus-associated trichodysplasia spinulosa skos:exactMatch Orphanet:228379 semapv:UnspecifiedMatching +GARD:20593 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:exactMatch Orphanet:228396 semapv:UnspecifiedMatching +GARD:20594 Polyvalvular heart disease syndrome skos:exactMatch Orphanet:228410 semapv:UnspecifiedMatching +GARD:20595 5q35 microduplication syndrome skos:exactMatch Orphanet:228415 semapv:UnspecifiedMatching +GARD:20596 Syndromic agammaglobulinemia skos:exactMatch Orphanet:229720 semapv:UnspecifiedMatching +GARD:20597 Toxin-mediated infectious botulism skos:exactMatch Orphanet:230800 semapv:UnspecifiedMatching +GARD:20598 High-grade dysplasia in patients with Barrett esophagus skos:exactMatch Orphanet:231080 semapv:UnspecifiedMatching +GARD:20599 Drug-induced lupus erythematosus skos:exactMatch Orphanet:231111 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:exactMatch Orphanet:655 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:256100 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:602088 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:604387 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:606966 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:611498 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:613159 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:613820 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:613824 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:614377 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:615382 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:615862 semapv:UnspecifiedMatching +GARD:206 Nephronophthisis skos:narrowMatch OMIM:617271 semapv:UnspecifiedMatching +GARD:2060 Ectopia lentis 2, isolated, autosomal recessive skos:broadMatch Orphanet:1885 semapv:UnspecifiedMatching +GARD:2060 Ectopia lentis 2, isolated, autosomal recessive skos:exactMatch OMIM:225100 semapv:UnspecifiedMatching +GARD:20600 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:exactMatch Orphanet:231117 semapv:UnspecifiedMatching +GARD:20601 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:exactMatch Orphanet:231127 semapv:UnspecifiedMatching +GARD:20602 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:exactMatch Orphanet:231130 semapv:UnspecifiedMatching +GARD:20603 Silver-Russell syndrome due to 7p11.2p13 microduplication skos:exactMatch Orphanet:231137 semapv:UnspecifiedMatching +GARD:20604 Silver-Russell syndrome due to an imprinting defect of 11p15 skos:exactMatch Orphanet:231140 semapv:UnspecifiedMatching +GARD:20605 Silver-Russell syndrome due to 11p15 microduplication skos:exactMatch Orphanet:231144 semapv:UnspecifiedMatching +GARD:20606 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:exactMatch Orphanet:231147 semapv:UnspecifiedMatching +GARD:20607 Beta-thalassemia associated with another hemoglobin anomaly skos:exactMatch Orphanet:231230 semapv:UnspecifiedMatching +GARD:20608 Hemoglobin C-beta-thalassemia syndrome skos:exactMatch Orphanet:231242 semapv:UnspecifiedMatching +GARD:20609 Hemoglobin E-beta-thalassemia syndrome skos:exactMatch Orphanet:231249 semapv:UnspecifiedMatching +GARD:20610 Beta-thalassemia with other manifestations skos:exactMatch Orphanet:231386 semapv:UnspecifiedMatching +GARD:20611 Variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231413 semapv:UnspecifiedMatching +GARD:20612 Regional variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231416 semapv:UnspecifiedMatching +GARD:20613 Functional variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231419 semapv:UnspecifiedMatching +GARD:20614 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231426 semapv:UnspecifiedMatching +GARD:20615 Paraparetic variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231445 semapv:UnspecifiedMatching +GARD:20616 Acute pure sensory neuropathy skos:exactMatch Orphanet:231450 semapv:UnspecifiedMatching +GARD:20617 Acute pandysautonomia skos:exactMatch Orphanet:231457 semapv:UnspecifiedMatching +GARD:20618 Acute sensory ataxic neuropathy skos:exactMatch Orphanet:231466 semapv:UnspecifiedMatching +GARD:20619 Congenital erosive and vesicular dermatosis skos:exactMatch Orphanet:231573 semapv:UnspecifiedMatching +GARD:20620 Primary unilateral adrenal hyperplasia skos:exactMatch Orphanet:231580 semapv:UnspecifiedMatching +GARD:20621 Adrenocortical carcinoma with pure aldosterone hypersecretion skos:exactMatch Orphanet:231625 semapv:UnspecifiedMatching +GARD:20622 Ectopic aldosterone-producing tumor skos:exactMatch Orphanet:231632 semapv:UnspecifiedMatching +GARD:20623 Rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 semapv:UnspecifiedMatching +GARD:20624 Rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 semapv:UnspecifiedMatching +GARD:20625 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:exactMatch Orphanet:231742 semapv:UnspecifiedMatching +GARD:20626 Infectious embryofetopathy skos:exactMatch Orphanet:232035 semapv:UnspecifiedMatching +GARD:20627 Syndrome with alpha-thalassemia as a major feature skos:exactMatch Orphanet:232288 semapv:UnspecifiedMatching +GARD:20628 Rare genetic vascular disease skos:exactMatch Orphanet:233655 semapv:UnspecifiedMatching +GARD:20629 Congenital vascular bone syndrome skos:exactMatch Orphanet:235832 semapv:UnspecifiedMatching +GARD:20630 Familial hyperaldosteronism skos:exactMatch Orphanet:235936 semapv:UnspecifiedMatching +GARD:20631 AApoAII amyloidosis skos:exactMatch Orphanet:238269 semapv:UnspecifiedMatching +GARD:20632 Infundibulo-neurohypophysitis skos:exactMatch Orphanet:238305 semapv:UnspecifiedMatching +GARD:20633 Lymphoproliferative syndrome skos:exactMatch Orphanet:238510 semapv:UnspecifiedMatching +GARD:20634 Hypotonia-cystinuria type 1 syndrome skos:exactMatch Orphanet:238517 semapv:UnspecifiedMatching +GARD:20635 Congenital secondary polycythemia skos:exactMatch Orphanet:238536 semapv:UnspecifiedMatching +GARD:20636 Acquired secondary polycythemia skos:exactMatch Orphanet:238547 semapv:UnspecifiedMatching +GARD:20637 Ileal pouch anal anastomosis related faecal incontinence skos:exactMatch Orphanet:238621 semapv:UnspecifiedMatching +GARD:20638 Megacystis-megaureter syndrome skos:exactMatch Orphanet:238637 semapv:UnspecifiedMatching +GARD:20639 Primary megaureter, adult-onset form skos:exactMatch Orphanet:238642 semapv:UnspecifiedMatching +GARD:20640 Congenital primary megaureter, obstructed form skos:exactMatch Orphanet:238646 semapv:UnspecifiedMatching +GARD:20641 Congenital primary megaureter, refluxing form skos:exactMatch Orphanet:238650 semapv:UnspecifiedMatching +GARD:20642 Congenital primary megaureter, nonrefluxing and unobstructed form skos:exactMatch Orphanet:238654 semapv:UnspecifiedMatching +GARD:20643 Isolated congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:238666 semapv:UnspecifiedMatching +GARD:20644 Neonatal iodine exposure skos:exactMatch Orphanet:238688 semapv:UnspecifiedMatching +GARD:20645 Transient congenital hypothyroidism due to maternal factor skos:exactMatch Orphanet:238696 semapv:UnspecifiedMatching +GARD:20646 Transient congenital hypothyroidism due to neonatal factor skos:exactMatch Orphanet:238699 semapv:UnspecifiedMatching +GARD:20647 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:exactMatch Orphanet:240094 semapv:UnspecifiedMatching +GARD:20648 Progressive supranuclear palsy-corticobasal syndrome skos:exactMatch Orphanet:240103 semapv:UnspecifiedMatching +GARD:20649 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:exactMatch Orphanet:240112 semapv:UnspecifiedMatching +GARD:20650 Syndromic obesity skos:exactMatch Orphanet:240371 semapv:UnspecifiedMatching +GARD:20651 De novo thrombotic microangiopathy after kidney transplantation skos:exactMatch Orphanet:244275 semapv:UnspecifiedMatching +GARD:20652 Biliary atresia with splenic malformation syndrome skos:exactMatch Orphanet:244283 semapv:UnspecifiedMatching +GARD:20653 Infantile mercury poisoning skos:exactMatch Orphanet:247165 semapv:UnspecifiedMatching +GARD:20654 Sporadic adult-onset ataxia of unknown etiology skos:exactMatch Orphanet:247234 semapv:UnspecifiedMatching +GARD:20655 Non-hereditary degenerative ataxia skos:exactMatch Orphanet:247239 semapv:UnspecifiedMatching +GARD:20656 Acquired ataxia skos:exactMatch Orphanet:247242 semapv:UnspecifiedMatching +GARD:20657 Inhalational anthrax skos:exactMatch Orphanet:247257 semapv:UnspecifiedMatching +GARD:20658 Autosomal recessive secondary polycythemia not associated with VHL gene skos:exactMatch Orphanet:247378 semapv:UnspecifiedMatching +GARD:20659 Acute neonatal citrullinemia type I skos:exactMatch Orphanet:247546 semapv:UnspecifiedMatching +GARD:20660 Adult-onset citrullinemia type I skos:exactMatch Orphanet:247573 semapv:UnspecifiedMatching +GARD:20661 Citrin deficiency skos:exactMatch Orphanet:247582 semapv:UnspecifiedMatching +GARD:20662 Prenatal benign hypophosphatasia skos:exactMatch Orphanet:247638 semapv:UnspecifiedMatching +GARD:20663 Inflammatory myopathy with abundant macrophages skos:exactMatch Orphanet:247718 semapv:UnspecifiedMatching +GARD:20664 Idiopathic eosinophilic myositis skos:exactMatch Orphanet:247724 semapv:UnspecifiedMatching +GARD:20665 X-linked cerebellar ataxia skos:exactMatch Orphanet:247765 semapv:UnspecifiedMatching +GARD:20666 Autosomal recessive ataxia due to PEX10 deficiency skos:exactMatch Orphanet:247815 semapv:UnspecifiedMatching +GARD:20667 Primary hypertrophic osteoarthropathy skos:exactMatch Orphanet:248095 semapv:UnspecifiedMatching +GARD:20668 Rare deficiency anemia skos:exactMatch Orphanet:248293 semapv:UnspecifiedMatching +GARD:20669 Constitutional deficiency anemia skos:exactMatch Orphanet:248296 semapv:UnspecifiedMatching +GARD:20670 Rare acquired deficiency anemia skos:exactMatch Orphanet:248302 semapv:UnspecifiedMatching +GARD:20671 Rare hemorrhagic disorder skos:exactMatch Orphanet:248308 semapv:UnspecifiedMatching +GARD:20672 Rare hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 semapv:UnspecifiedMatching +GARD:20673 Rare hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 semapv:UnspecifiedMatching +GARD:20674 Isolated delta-storage pool disease skos:exactMatch Orphanet:248340 semapv:UnspecifiedMatching +GARD:20675 Rare hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 semapv:UnspecifiedMatching +GARD:20676 Rare thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 semapv:UnspecifiedMatching +GARD:20677 Rare thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 semapv:UnspecifiedMatching +GARD:20678 Rare thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 semapv:UnspecifiedMatching +GARD:20679 Rare thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 semapv:UnspecifiedMatching +GARD:2068 Ectrodactyly-polydactyly syndrome skos:exactMatch Orphanet:1892 semapv:UnspecifiedMatching +GARD:2068 Ectrodactyly-polydactyly syndrome skos:narrowMatch OMIM:225290 semapv:UnspecifiedMatching +GARD:20680 Rare thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 semapv:UnspecifiedMatching +GARD:20681 Rare thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 semapv:UnspecifiedMatching +GARD:20682 Genetic polycythemia skos:exactMatch Orphanet:250165 semapv:UnspecifiedMatching +GARD:20683 Serpinopathy skos:exactMatch Orphanet:250805 semapv:UnspecifiedMatching +GARD:20684 Serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 semapv:UnspecifiedMatching +GARD:20685 Serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 semapv:UnspecifiedMatching +GARD:20686 Autosomal dominant optic atrophy and peripheral neuropathy skos:exactMatch Orphanet:250932 semapv:UnspecifiedMatching +GARD:20687 Polymicrogyria with optic nerve hypoplasia skos:exactMatch Orphanet:250972 semapv:UnspecifiedMatching +GARD:20688 Paternal uniparental disomy of chromosome 1 skos:exactMatch Orphanet:251004 semapv:UnspecifiedMatching +GARD:20689 Maternal uniparental disomy of chromosome 1 skos:exactMatch Orphanet:251009 semapv:UnspecifiedMatching +GARD:20690 2q31.1 microdeletion syndrome skos:exactMatch Orphanet:251014 semapv:UnspecifiedMatching +GARD:20691 6p22 microdeletion syndrome skos:exactMatch Orphanet:251046 semapv:UnspecifiedMatching +GARD:20692 7q31 microdeletion syndrome skos:exactMatch Orphanet:251061 semapv:UnspecifiedMatching +GARD:20693 8p11.2 deletion syndrome skos:exactMatch Orphanet:251066 semapv:UnspecifiedMatching +GARD:20694 Infantile onset panniculitis with uveitis and systemic granulomatosis skos:exactMatch Orphanet:251304 semapv:UnspecifiedMatching +GARD:20695 Idiopathic recurrent pericarditis skos:exactMatch Orphanet:251307 semapv:UnspecifiedMatching +GARD:20696 Overlapping connective tissue disease skos:exactMatch Orphanet:251312 semapv:UnspecifiedMatching +GARD:20697 Drug-induced vasculitis skos:exactMatch Orphanet:251325 semapv:UnspecifiedMatching +GARD:20698 Unclassified vasculitis skos:exactMatch Orphanet:251328 semapv:UnspecifiedMatching +GARD:20699 Unexplained long-lasting fever/inflammatory syndrome skos:exactMatch Orphanet:251332 semapv:UnspecifiedMatching +GARD:207 Alveolar echinococcosis skos:exactMatch Orphanet:284 semapv:UnspecifiedMatching +GARD:20700 Sickle cell-hemoglobin E disease syndrome skos:exactMatch Orphanet:251375 semapv:UnspecifiedMatching +GARD:20701 Toxic or drug-related embryofetopathy skos:exactMatch Orphanet:251529 semapv:UnspecifiedMatching +GARD:20702 Maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 semapv:UnspecifiedMatching +GARD:20703 Rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 semapv:UnspecifiedMatching +GARD:20704 High-grade astrocytoma skos:exactMatch Orphanet:251561 semapv:UnspecifiedMatching +GARD:20705 Giant cell glioblastoma skos:exactMatch Orphanet:251579 semapv:UnspecifiedMatching +GARD:20706 Low-grade astrocytoma skos:exactMatch Orphanet:251592 semapv:UnspecifiedMatching +GARD:20707 Protoplasmic astrocytoma skos:exactMatch Orphanet:251598 semapv:UnspecifiedMatching +GARD:20708 Fibrillary astrocytoma skos:exactMatch Orphanet:251601 semapv:UnspecifiedMatching +GARD:20709 Gemistocytic astrocytoma skos:exactMatch Orphanet:251604 semapv:UnspecifiedMatching +GARD:2071 Blepharo-cheilo-odontic syndrome skos:exactMatch Orphanet:1997 semapv:UnspecifiedMatching +GARD:2071 Blepharo-cheilo-odontic syndrome skos:narrowMatch OMIM:119580 semapv:UnspecifiedMatching +GARD:2071 Blepharo-cheilo-odontic syndrome skos:narrowMatch OMIM:617681 semapv:UnspecifiedMatching +GARD:20710 Pilomyxoid astrocytoma skos:exactMatch Orphanet:251615 semapv:UnspecifiedMatching +GARD:20711 Pituicytoma skos:exactMatch Orphanet:251623 semapv:UnspecifiedMatching +GARD:20712 Oligoastrocytic tumor skos:exactMatch Orphanet:251651 semapv:UnspecifiedMatching +GARD:20713 Glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 semapv:UnspecifiedMatching +GARD:20714 Angiocentric glioma skos:exactMatch Orphanet:251671 semapv:UnspecifiedMatching +GARD:20715 Chordoid glioma skos:exactMatch Orphanet:251674 semapv:UnspecifiedMatching +GARD:20716 Embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 semapv:UnspecifiedMatching +GARD:20717 Anaplastic/large cell medulloblastoma skos:exactMatch Orphanet:251855 semapv:UnspecifiedMatching +GARD:20718 Central nervous system embryonal tumor skos:exactMatch Orphanet:251870 semapv:UnspecifiedMatching +GARD:20719 Ganglioneuroblastoma skos:exactMatch Orphanet:251877 semapv:UnspecifiedMatching +GARD:20720 Ependymoblastoma skos:exactMatch Orphanet:251880 semapv:UnspecifiedMatching +GARD:20721 Medulloepithelioma of the central nervous system skos:exactMatch Orphanet:251883 semapv:UnspecifiedMatching +GARD:20722 Choroid plexus tumor skos:exactMatch Orphanet:251896 semapv:UnspecifiedMatching +GARD:20723 Atypical papilloma of choroid plexus skos:exactMatch Orphanet:251902 semapv:UnspecifiedMatching +GARD:20724 Pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 semapv:UnspecifiedMatching +GARD:20725 Papillary tumor of the pineal region skos:exactMatch Orphanet:251915 semapv:UnspecifiedMatching +GARD:20726 Neuronal tumor skos:exactMatch Orphanet:251924 semapv:UnspecifiedMatching +GARD:20727 Extraventricular neurocytoma skos:exactMatch Orphanet:251927 semapv:UnspecifiedMatching +GARD:20728 Mixed neuronal-glial tumor skos:exactMatch Orphanet:251934 semapv:UnspecifiedMatching +GARD:20729 Desmoplastic infantile astrocytoma/ganglioglioma skos:exactMatch Orphanet:251940 semapv:UnspecifiedMatching +GARD:20730 Papillary glioneuronal tumor skos:exactMatch Orphanet:251962 semapv:UnspecifiedMatching +GARD:20731 Ganglioneuroma skos:exactMatch Orphanet:251992 semapv:UnspecifiedMatching +GARD:20732 Primary germ cell tumor of central nervous system skos:exactMatch Orphanet:251995 semapv:UnspecifiedMatching +GARD:20733 Yolk sac tumor of central nervous system skos:exactMatch Orphanet:252006 semapv:UnspecifiedMatching +GARD:20734 Choriocarcinoma of the central nervous system skos:exactMatch Orphanet:252015 semapv:UnspecifiedMatching +GARD:20735 Teratoma of the central nervous system skos:exactMatch Orphanet:252018 semapv:UnspecifiedMatching +GARD:20736 Mixed germ cell tumor of central nervous system skos:exactMatch Orphanet:252021 semapv:UnspecifiedMatching +GARD:20737 Tumor of meninges skos:exactMatch Orphanet:252025 semapv:UnspecifiedMatching +GARD:20738 Primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 semapv:UnspecifiedMatching +GARD:20739 Diffuse leptomeningeal melanocytosis skos:exactMatch Orphanet:252031 semapv:UnspecifiedMatching +GARD:2074 Edinburgh malformation syndrome skos:exactMatch Orphanet:1895 semapv:UnspecifiedMatching +GARD:2074 Edinburgh malformation syndrome skos:narrowMatch OMIM:129850 semapv:UnspecifiedMatching +GARD:20740 Meningeal melanocytoma skos:exactMatch Orphanet:252046 semapv:UnspecifiedMatching +GARD:20741 Malignant peripheral nerve sheath tumor with perineurial differentiation skos:exactMatch Orphanet:252128 semapv:UnspecifiedMatching +GARD:20742 Inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 semapv:UnspecifiedMatching +GARD:20743 Malignant triton tumor skos:exactMatch Orphanet:252212 semapv:UnspecifiedMatching +GARD:20744 Rare cutaneous lichen planus skos:exactMatch Orphanet:254370 semapv:UnspecifiedMatching +GARD:20745 Rare mucosal lichen planus skos:exactMatch Orphanet:254373 semapv:UnspecifiedMatching +GARD:20746 Inhalational botulism skos:exactMatch Orphanet:254504 semapv:UnspecifiedMatching +GARD:20747 Iatrogenic botulism skos:exactMatch Orphanet:254509 semapv:UnspecifiedMatching +GARD:20748 Gestational trophoblastic disease skos:exactMatch Orphanet:254685 semapv:UnspecifiedMatching +GARD:20749 Partial hydatidiform mole skos:exactMatch Orphanet:254693 semapv:UnspecifiedMatching +GARD:20750 Epithelioid trophoblastic tumor skos:exactMatch Orphanet:254698 semapv:UnspecifiedMatching +GARD:20751 Genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 semapv:UnspecifiedMatching +GARD:20752 Pyruvate metabolism disorder skos:exactMatch Orphanet:254746 semapv:UnspecifiedMatching +GARD:20753 Tricarboxylic acid cycle disorder skos:exactMatch Orphanet:254749 semapv:UnspecifiedMatching +GARD:20754 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 semapv:UnspecifiedMatching +GARD:20755 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 semapv:UnspecifiedMatching +GARD:20756 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 semapv:UnspecifiedMatching +GARD:20757 Mitochondrial DNA-related mitochondrial myopathy skos:exactMatch Orphanet:254788 semapv:UnspecifiedMatching +GARD:20758 Multiple mitochondrial DNA deletion syndrome skos:exactMatch Orphanet:254807 semapv:UnspecifiedMatching +GARD:20759 Ataxia neuropathy spectrum skos:exactMatch Orphanet:254818 semapv:UnspecifiedMatching +GARD:2076 EEC syndrome skos:exactMatch Orphanet:1896 semapv:UnspecifiedMatching +GARD:2076 EEC syndrome skos:narrowMatch OMIM:129900 semapv:UnspecifiedMatching +GARD:2076 EEC syndrome skos:narrowMatch OMIM:604292 semapv:UnspecifiedMatching +GARD:20760 Mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 semapv:UnspecifiedMatching +GARD:20761 Mitochondrial membrane transport disorder skos:exactMatch Orphanet:254827 semapv:UnspecifiedMatching +GARD:20762 Mitochondrial substrate carrier disorder skos:exactMatch Orphanet:254830 semapv:UnspecifiedMatching +GARD:20763 Mitochondrial protein import disorder skos:exactMatch Orphanet:254834 semapv:UnspecifiedMatching +GARD:20764 Unspecified mitochondrial disorder skos:exactMatch Orphanet:254837 semapv:UnspecifiedMatching +GARD:20765 Exercise intolerance with lactic acidosis skos:exactMatch Orphanet:254843 semapv:UnspecifiedMatching +GARD:20766 Isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 semapv:UnspecifiedMatching +GARD:20767 Mitochondrial DNA-related dystonia skos:exactMatch Orphanet:254851 semapv:UnspecifiedMatching +GARD:20768 Pure mitochondrial myopathy skos:exactMatch Orphanet:254854 semapv:UnspecifiedMatching +GARD:20769 Mitochondrial DNA depletion syndrome, hepatocerebral form skos:exactMatch Orphanet:254871 semapv:UnspecifiedMatching +GARD:20770 Distal 7q11.23 microduplication syndrome skos:exactMatch Orphanet:261102 semapv:UnspecifiedMatching +GARD:20771 FOXG1 syndrome due to 14q12 microdeletion skos:exactMatch Orphanet:261144 semapv:UnspecifiedMatching +GARD:20772 16p11.2p12.2 microduplication syndrome skos:exactMatch Orphanet:261204 semapv:UnspecifiedMatching +GARD:20773 14q11.2 microduplication syndrome skos:exactMatch Orphanet:261229 semapv:UnspecifiedMatching +GARD:20774 16p13.11 microdeletion syndrome skos:exactMatch Orphanet:261236 semapv:UnspecifiedMatching +GARD:20775 16p13.11 microduplication syndrome skos:exactMatch Orphanet:261243 semapv:UnspecifiedMatching +GARD:20776 Distal 17p13.3 microdeletion syndrome skos:exactMatch Orphanet:261257 semapv:UnspecifiedMatching +GARD:20777 Paternal 20q13.2q13.3 microdeletion syndrome skos:exactMatch Orphanet:261304 semapv:UnspecifiedMatching +GARD:20778 20q13.33 microdeletion syndrome skos:exactMatch Orphanet:261311 semapv:UnspecifiedMatching +GARD:20779 21q22.11q22.12 microdeletion syndrome skos:exactMatch Orphanet:261323 semapv:UnspecifiedMatching +GARD:2078 EEM syndrome skos:exactMatch Orphanet:1897 semapv:UnspecifiedMatching +GARD:2078 EEM syndrome skos:narrowMatch OMIM:225280 semapv:UnspecifiedMatching +GARD:20780 Distal 22q11.2 microduplication syndrome skos:exactMatch Orphanet:261337 semapv:UnspecifiedMatching +GARD:20781 Trisomy 1q skos:exactMatch Orphanet:261344 semapv:UnspecifiedMatching +GARD:20782 Atypical Norrie disease due to Xp11.3 microdeletion skos:exactMatch Orphanet:261501 semapv:UnspecifiedMatching +GARD:20783 Maternal uniparental disomy of chromosome X skos:exactMatch Orphanet:261519 semapv:UnspecifiedMatching +GARD:20784 Paternal uniparental disomy of chromosome X skos:exactMatch Orphanet:261524 semapv:UnspecifiedMatching +GARD:20785 Ring chromosome Y syndrome skos:exactMatch Orphanet:261529 semapv:UnspecifiedMatching +GARD:20786 Familial adenomatous polyposis due to 5q22.2 microdeletion skos:exactMatch Orphanet:261584 semapv:UnspecifiedMatching +GARD:20787 Okihiro syndrome due to 20q13 microdeletion skos:exactMatch Orphanet:261638 semapv:UnspecifiedMatching +GARD:20788 Okihiro syndrome due to a point mutation skos:exactMatch Orphanet:261647 semapv:UnspecifiedMatching +GARD:20789 Partial deletion of chromosome 1 skos:exactMatch Orphanet:261766 semapv:UnspecifiedMatching +GARD:20790 Partial deletion of chromosome 2 skos:exactMatch Orphanet:261771 semapv:UnspecifiedMatching +GARD:20791 Partial deletion of chromosome 3 skos:exactMatch Orphanet:261776 semapv:UnspecifiedMatching +GARD:20792 Partial deletion of chromosome 4 skos:exactMatch Orphanet:261781 semapv:UnspecifiedMatching +GARD:20793 Partial deletion of chromosome 5 skos:exactMatch Orphanet:261786 semapv:UnspecifiedMatching +GARD:20794 Partial deletion of chromosome 6 skos:exactMatch Orphanet:261791 semapv:UnspecifiedMatching +GARD:20795 Partial deletion of chromosome 7 skos:exactMatch Orphanet:261796 semapv:UnspecifiedMatching +GARD:20796 Partial deletion of chromosome 8 skos:exactMatch Orphanet:261801 semapv:UnspecifiedMatching +GARD:20797 Partial deletion of chromosome 9 skos:exactMatch Orphanet:261806 semapv:UnspecifiedMatching +GARD:20798 Partial deletion of chromosome 10 skos:exactMatch Orphanet:261811 semapv:UnspecifiedMatching +GARD:20799 Partial deletion of chromosome 11 skos:exactMatch Orphanet:261816 semapv:UnspecifiedMatching +GARD:20800 Partial deletion of the long arm of chromosome 12 skos:exactMatch Orphanet:261821 semapv:UnspecifiedMatching +GARD:20801 Partial deletion of chromosome 16 skos:exactMatch Orphanet:261826 semapv:UnspecifiedMatching +GARD:20802 Partial deletion of chromosome 17 skos:exactMatch Orphanet:261831 semapv:UnspecifiedMatching +GARD:20803 Partial deletion of chromosome 18 skos:exactMatch Orphanet:261836 semapv:UnspecifiedMatching +GARD:20804 Partial deletion of chromosome 19 skos:exactMatch Orphanet:261841 semapv:UnspecifiedMatching +GARD:20805 Partial deletion of chromosome 20 skos:exactMatch Orphanet:261846 semapv:UnspecifiedMatching +GARD:20806 Partial deletion of the short arm of chromosome 1 skos:exactMatch Orphanet:261857 semapv:UnspecifiedMatching +GARD:20807 Partial deletion of the short arm of chromosome 2 skos:exactMatch Orphanet:261866 semapv:UnspecifiedMatching +GARD:20808 Partial deletion of the short arm of chromosome 4 skos:exactMatch Orphanet:261884 semapv:UnspecifiedMatching +GARD:20809 Partial deletion of the short arm of chromosome 5 skos:exactMatch Orphanet:261893 semapv:UnspecifiedMatching +GARD:2081 Hypermobile Ehlers-Danlos syndrome skos:exactMatch Orphanet:285 semapv:UnspecifiedMatching +GARD:2081 Hypermobile Ehlers-Danlos syndrome skos:narrowMatch OMIM:130020 semapv:UnspecifiedMatching +GARD:20810 Partial deletion of the short arm of chromosome 6 skos:exactMatch Orphanet:261902 semapv:UnspecifiedMatching +GARD:20811 Partial deletion of the short arm of chromosome 7 skos:exactMatch Orphanet:261911 semapv:UnspecifiedMatching +GARD:20812 Partial deletion of the short arm of chromosome 8 skos:exactMatch Orphanet:261920 semapv:UnspecifiedMatching +GARD:20813 Partial deletion of the short arm of chromosome 9 skos:exactMatch Orphanet:261929 semapv:UnspecifiedMatching +GARD:20814 Partial deletion of the short arm of chromosome 10 skos:exactMatch Orphanet:261938 semapv:UnspecifiedMatching +GARD:20815 Partial deletion of the short arm of chromosome 11 skos:exactMatch Orphanet:261947 semapv:UnspecifiedMatching +GARD:20816 Partial deletion of the short arm of chromosome 16 skos:exactMatch Orphanet:261956 semapv:UnspecifiedMatching +GARD:20817 Partial monosomy of the short arm of chromosome 17 skos:exactMatch Orphanet:261965 semapv:UnspecifiedMatching +GARD:20818 Partial deletion of the short arm of chromosome 18 skos:exactMatch Orphanet:261974 semapv:UnspecifiedMatching +GARD:20819 Partial deletion of the short arm of chromosome 19 skos:exactMatch Orphanet:261983 semapv:UnspecifiedMatching +GARD:2082 Vascular Ehlers-Danlos syndrome skos:exactMatch Orphanet:286 semapv:UnspecifiedMatching +GARD:2082 Vascular Ehlers-Danlos syndrome skos:narrowMatch OMIM:130050 semapv:UnspecifiedMatching +GARD:20820 Partial monosomy of the short arm of chromosome 20 skos:exactMatch Orphanet:261992 semapv:UnspecifiedMatching +GARD:20821 Partial deletion of the long arm of chromosome 1 skos:exactMatch Orphanet:262001 semapv:UnspecifiedMatching +GARD:20822 Partial deletion of the long arm of chromosome 2 skos:exactMatch Orphanet:262010 semapv:UnspecifiedMatching +GARD:20823 Partial deletion of the long arm of chromosome 3 skos:exactMatch Orphanet:262019 semapv:UnspecifiedMatching +GARD:20824 Partial deletion of the long arm of chromosome 4 skos:exactMatch Orphanet:262029 semapv:UnspecifiedMatching +GARD:20825 Partial deletion of the long arm of chromosome 5 skos:exactMatch Orphanet:262038 semapv:UnspecifiedMatching +GARD:20826 Partial deletion of the long arm of chromosome 6 skos:exactMatch Orphanet:262047 semapv:UnspecifiedMatching +GARD:20827 Partial deletion of the long arm of chromosome 7 skos:exactMatch Orphanet:262056 semapv:UnspecifiedMatching +GARD:20828 Partial deletion of the long arm of chromosome 8 skos:exactMatch Orphanet:262065 semapv:UnspecifiedMatching +GARD:20829 Partial monosomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262074 semapv:UnspecifiedMatching +GARD:2083 Kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536545 semapv:UnspecifiedMatching +GARD:20830 Partial monosomy of the long arm of chromosome 10 skos:exactMatch Orphanet:262083 semapv:UnspecifiedMatching +GARD:20831 Partial deletion of the long arm of chromosome 11 skos:exactMatch Orphanet:262092 semapv:UnspecifiedMatching +GARD:20832 Partial deletion of the long arm of chromosome 13 skos:exactMatch Orphanet:262101 semapv:UnspecifiedMatching +GARD:20833 Partial deletion of the long arm of chromosome 14 skos:exactMatch Orphanet:262110 semapv:UnspecifiedMatching +GARD:20834 Partial deletion of the long arm of chromosome 15 skos:exactMatch Orphanet:262119 semapv:UnspecifiedMatching +GARD:20835 Partial deletion of the long arm of chromosome 16 skos:exactMatch Orphanet:262128 semapv:UnspecifiedMatching +GARD:20836 Partial deletion of the long arm of chromosome 17 skos:exactMatch Orphanet:262137 semapv:UnspecifiedMatching +GARD:20837 Partial deletion of the long arm of chromosome 18 skos:exactMatch Orphanet:262146 semapv:UnspecifiedMatching +GARD:20838 Partial deletion of the long arm of chromosome 19 skos:exactMatch Orphanet:262155 semapv:UnspecifiedMatching +GARD:20839 Partial deletion of the long arm of chromosome 20 skos:exactMatch Orphanet:262164 semapv:UnspecifiedMatching +GARD:2084 Arthrochalasia Ehlers-Danlos syndrome skos:exactMatch Orphanet:1899 semapv:UnspecifiedMatching +GARD:2084 Arthrochalasia Ehlers-Danlos syndrome skos:narrowMatch OMIM:130060 semapv:UnspecifiedMatching +GARD:2084 Arthrochalasia Ehlers-Danlos syndrome skos:narrowMatch OMIM:617821 semapv:UnspecifiedMatching +GARD:20840 Partial deletion of the long arm of chromosome 21 skos:exactMatch Orphanet:262173 semapv:UnspecifiedMatching +GARD:20841 Partial deletion of the long arm of chromosome 22 skos:exactMatch Orphanet:262182 semapv:UnspecifiedMatching +GARD:20842 Partial duplication of chromosome 1 skos:exactMatch Orphanet:262191 semapv:UnspecifiedMatching +GARD:20843 Partial duplication of chromosome 2 skos:exactMatch Orphanet:262196 semapv:UnspecifiedMatching +GARD:20844 Partial duplication of chromosome 3 skos:exactMatch Orphanet:262201 semapv:UnspecifiedMatching +GARD:20845 Partial duplication of chromosome 4 skos:exactMatch Orphanet:262206 semapv:UnspecifiedMatching +GARD:20846 Partial trisomy/tetrasomy of chromosome 5 skos:exactMatch Orphanet:262211 semapv:UnspecifiedMatching +GARD:20847 Partial duplication of chromosome 6 skos:exactMatch Orphanet:262628 semapv:UnspecifiedMatching +GARD:20848 Partial duplication of chromosome 7 skos:exactMatch Orphanet:262633 semapv:UnspecifiedMatching +GARD:20849 Partial duplication of chromosome 8 skos:exactMatch Orphanet:262638 semapv:UnspecifiedMatching +GARD:20850 Partial trisomy/tetrasomy of chromosome 9 skos:exactMatch Orphanet:262643 semapv:UnspecifiedMatching +GARD:20851 Partial duplication of chromosome 10 skos:exactMatch Orphanet:262648 semapv:UnspecifiedMatching +GARD:20852 Partial duplication of chromosome 11 skos:exactMatch Orphanet:262653 semapv:UnspecifiedMatching +GARD:20853 Partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch Orphanet:262658 semapv:UnspecifiedMatching +GARD:20854 Partial duplication of chromosome 16 skos:exactMatch Orphanet:262672 semapv:UnspecifiedMatching +GARD:20855 Partial duplication of chromosome 17 skos:exactMatch Orphanet:262677 semapv:UnspecifiedMatching +GARD:20856 Partial trisomy/tetrasomy of chromosome 18 skos:exactMatch Orphanet:262682 semapv:UnspecifiedMatching +GARD:20857 Partial duplication of chromosome 19 skos:exactMatch Orphanet:262687 semapv:UnspecifiedMatching +GARD:20858 Partial trisomy of chromosome 20 skos:exactMatch Orphanet:262692 semapv:UnspecifiedMatching +GARD:20859 Partial duplication of the short arm of chromosome 2 skos:exactMatch Orphanet:262698 semapv:UnspecifiedMatching +GARD:20860 Partial duplication of the short arm of chromosome 3 skos:exactMatch Orphanet:262707 semapv:UnspecifiedMatching +GARD:20861 Partial duplication of the short arm of chromosome 4 skos:exactMatch Orphanet:262716 semapv:UnspecifiedMatching +GARD:20862 Partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch Orphanet:262725 semapv:UnspecifiedMatching +GARD:20863 Partial duplication of the short arm of chromosome 6 skos:exactMatch Orphanet:262740 semapv:UnspecifiedMatching +GARD:20864 Partial duplication of the short arm of chromosome 7 skos:exactMatch Orphanet:262749 semapv:UnspecifiedMatching +GARD:20865 Partial duplication of the short arm of chromosome 8 skos:exactMatch Orphanet:262758 semapv:UnspecifiedMatching +GARD:20866 Partial trisomy/tetrasomy of the short arm of chromosome 9 skos:exactMatch Orphanet:262767 semapv:UnspecifiedMatching +GARD:20867 Partial duplication of the short arm of chromosome 10 skos:exactMatch Orphanet:262776 semapv:UnspecifiedMatching +GARD:20868 Partial duplication of the short arm of chromosome 11 skos:exactMatch Orphanet:262785 semapv:UnspecifiedMatching +GARD:20869 Partial duplication of the short arm of chromosome 16 skos:exactMatch Orphanet:262794 semapv:UnspecifiedMatching +GARD:20870 Partial duplication of the short arm of chromosome 17 skos:exactMatch Orphanet:262803 semapv:UnspecifiedMatching +GARD:20871 Partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch Orphanet:262812 semapv:UnspecifiedMatching +GARD:20872 Partial duplication of the long arm of chromosome 1 skos:exactMatch Orphanet:262833 semapv:UnspecifiedMatching +GARD:20873 Partial duplication of the long arm of chromosome 2 skos:exactMatch Orphanet:262842 semapv:UnspecifiedMatching +GARD:20874 Partial duplication of the long arm of chromosome 3 skos:exactMatch Orphanet:262851 semapv:UnspecifiedMatching +GARD:20875 Partial duplication of the long arm of chromosome 4 skos:exactMatch Orphanet:262860 semapv:UnspecifiedMatching +GARD:20876 Partial trisomy of the long arm of chromosome 5 skos:exactMatch Orphanet:262869 semapv:UnspecifiedMatching +GARD:20877 Partial duplication of the long arm of chromosome 6 skos:exactMatch Orphanet:262878 semapv:UnspecifiedMatching +GARD:20878 Partial duplication of the long arm of chromosome 7 skos:exactMatch Orphanet:262887 semapv:UnspecifiedMatching +GARD:20879 Partial duplication of the long arm of chromosome 8 skos:exactMatch Orphanet:262896 semapv:UnspecifiedMatching +GARD:2088 Classical Ehlers-Danlos syndrome skos:exactMatch Orphanet:287 semapv:UnspecifiedMatching +GARD:2088 Classical Ehlers-Danlos syndrome skos:narrowMatch OMIM:130000 semapv:UnspecifiedMatching +GARD:2088 Classical Ehlers-Danlos syndrome skos:narrowMatch OMIM:130010 semapv:UnspecifiedMatching +GARD:20880 Partial trisomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262905 semapv:UnspecifiedMatching +GARD:20881 Partial duplication of the long arm of chromosome 10 skos:exactMatch Orphanet:262914 semapv:UnspecifiedMatching +GARD:20882 Partial duplication of the long arm of chromosome 11 skos:exactMatch Orphanet:262923 semapv:UnspecifiedMatching +GARD:20883 Partial duplication of the long arm of chromosome 13 skos:exactMatch Orphanet:262932 semapv:UnspecifiedMatching +GARD:20884 Partial duplication of the long arm of chromosome 14 skos:exactMatch Orphanet:262941 semapv:UnspecifiedMatching +GARD:20885 Partial duplication of the long arm of chromosome 15 skos:exactMatch Orphanet:262950 semapv:UnspecifiedMatching +GARD:20886 Partial trisomy of the long arm of chromosome 16 skos:exactMatch Orphanet:262959 semapv:UnspecifiedMatching +GARD:20887 Partial duplication of the long arm of chromosome 17 skos:exactMatch Orphanet:262968 semapv:UnspecifiedMatching +GARD:20888 Partial trisomy of the long arm of chromosome 18 skos:exactMatch Orphanet:262977 semapv:UnspecifiedMatching +GARD:20889 Partial duplication of the long arm of chromosome 19 skos:exactMatch Orphanet:262986 semapv:UnspecifiedMatching +GARD:2089 Dermatosparaxis Ehlers-Danlos syndrome skos:exactMatch Orphanet:1901 semapv:UnspecifiedMatching +GARD:2089 Dermatosparaxis Ehlers-Danlos syndrome skos:narrowMatch OMIM:225410 semapv:UnspecifiedMatching +GARD:20890 Partial trisomy of the long arm of chromosome 20 skos:exactMatch Orphanet:262995 semapv:UnspecifiedMatching +GARD:20891 Partial duplication of the long arm of chromosome 22 skos:exactMatch Orphanet:263004 semapv:UnspecifiedMatching +GARD:20892 Thymoma type A skos:exactMatch Orphanet:263310 semapv:UnspecifiedMatching +GARD:20893 Thymoma type B skos:exactMatch Orphanet:263317 semapv:UnspecifiedMatching +GARD:20894 Thymoma type AB skos:exactMatch Orphanet:263324 semapv:UnspecifiedMatching +GARD:20895 Well-differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263331 semapv:UnspecifiedMatching +GARD:20896 Moderately-differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263335 semapv:UnspecifiedMatching +GARD:20897 Poorly differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263339 semapv:UnspecifiedMatching +GARD:20898 Postcardiotomy right ventricular failure skos:exactMatch Orphanet:263352 semapv:UnspecifiedMatching +GARD:20899 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:exactMatch Orphanet:263410 semapv:UnspecifiedMatching +GARD:20900 Angiosarcoma skos:exactMatch Orphanet:263413 semapv:UnspecifiedMatching +GARD:20901 Nevus of Ota skos:exactMatch Orphanet:263425 semapv:UnspecifiedMatching +GARD:20902 Congenital smooth muscle hamartoma skos:exactMatch Orphanet:263435 semapv:UnspecifiedMatching +GARD:20903 Hyperinsulinism due to HNF4A deficiency skos:exactMatch Orphanet:263455 semapv:UnspecifiedMatching +GARD:20904 Peeling skin syndrome type C skos:exactMatch Orphanet:263558 semapv:UnspecifiedMatching +GARD:20905 NK-cell enteropathy skos:exactMatch Orphanet:263665 semapv:UnspecifiedMatching +GARD:20906 Complex chromosomal rearrangement skos:exactMatch Orphanet:263708 semapv:UnspecifiedMatching +GARD:20907 X chromosome number anomaly skos:exactMatch Orphanet:263714 semapv:UnspecifiedMatching +GARD:20908 X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 semapv:UnspecifiedMatching +GARD:20909 X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 semapv:UnspecifiedMatching +GARD:20910 Polysomy of X chromosome skos:exactMatch Orphanet:263723 semapv:UnspecifiedMatching +GARD:20911 Partial deletion of chromosome X skos:exactMatch Orphanet:263726 semapv:UnspecifiedMatching +GARD:20912 Partial monosomy of the short arm of chromosome X skos:exactMatch Orphanet:263731 semapv:UnspecifiedMatching +GARD:20913 Y chromosome number anomaly skos:exactMatch Orphanet:263746 semapv:UnspecifiedMatching +GARD:20914 X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 semapv:UnspecifiedMatching +GARD:20915 Partial deletion of the long arm of chromosome X skos:exactMatch Orphanet:263756 semapv:UnspecifiedMatching +GARD:20916 Partial duplication of chromosome X skos:exactMatch Orphanet:263768 semapv:UnspecifiedMatching +GARD:20917 Partial duplication of the long arm of chromosome X skos:exactMatch Orphanet:263783 semapv:UnspecifiedMatching +GARD:20918 Uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 semapv:UnspecifiedMatching +GARD:20919 Partial duplication of the short arm of chromosome 1 skos:exactMatch Orphanet:264431 semapv:UnspecifiedMatching +GARD:2092 Ehrlichiosis skos:exactMatch Orphanet:1902 semapv:UnspecifiedMatching +GARD:20920 Trisomy 8p skos:exactMatch Orphanet:264450 semapv:UnspecifiedMatching +GARD:20921 Interstitial lung disease specific to childhood skos:exactMatch Orphanet:264656 semapv:UnspecifiedMatching +GARD:20922 Primary interstitial lung disease specific to childhood due to alveolar structure disorder skos:exactMatch Orphanet:264670 semapv:UnspecifiedMatching +GARD:20923 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder skos:exactMatch Orphanet:264683 semapv:UnspecifiedMatching +GARD:20924 Isolated pulmonary capillaritis skos:exactMatch Orphanet:264691 semapv:UnspecifiedMatching +GARD:20925 Interstitial lung disease specific to infancy skos:exactMatch Orphanet:264694 semapv:UnspecifiedMatching +GARD:20926 Secondary interstitial lung disease specific to childhood associated with a systemic disease skos:exactMatch Orphanet:264699 semapv:UnspecifiedMatching +GARD:20927 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease skos:exactMatch Orphanet:264704 semapv:UnspecifiedMatching +GARD:20928 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis skos:exactMatch Orphanet:264709 semapv:UnspecifiedMatching +GARD:20929 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease skos:exactMatch Orphanet:264714 semapv:UnspecifiedMatching +GARD:20930 Secondary interstitial lung disease specific to childhood associated with a metabolic disease skos:exactMatch Orphanet:264719 semapv:UnspecifiedMatching +GARD:20931 Interstitial lung disease specific to adulthood skos:exactMatch Orphanet:264735 semapv:UnspecifiedMatching +GARD:20932 Primary interstitial lung disease specific to adulthood skos:exactMatch Orphanet:264740 semapv:UnspecifiedMatching +GARD:20933 Secondary interstitial lung disease specific to adulthood associated with a systemic disease skos:exactMatch Orphanet:264745 semapv:UnspecifiedMatching +GARD:20934 Interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264757 semapv:UnspecifiedMatching +GARD:20935 Primary interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264762 semapv:UnspecifiedMatching +GARD:20936 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder skos:exactMatch Orphanet:264930 semapv:UnspecifiedMatching +GARD:20937 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder skos:exactMatch Orphanet:264935 semapv:UnspecifiedMatching +GARD:20938 Secondary interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264944 semapv:UnspecifiedMatching +GARD:20939 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease skos:exactMatch Orphanet:264949 semapv:UnspecifiedMatching +GARD:20940 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease skos:exactMatch Orphanet:264968 semapv:UnspecifiedMatching +GARD:20941 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis skos:exactMatch Orphanet:264973 semapv:UnspecifiedMatching +GARD:20942 Drug or radiation exposure-related interstitial lung disease skos:exactMatch Orphanet:264978 semapv:UnspecifiedMatching +GARD:20943 Exposure-related interstitial lung disease skos:exactMatch Orphanet:264984 semapv:UnspecifiedMatching +GARD:20944 Genetic interstitial lung disease skos:exactMatch Orphanet:264992 semapv:UnspecifiedMatching +GARD:20945 Intraocular medulloepithelioma skos:exactMatch Orphanet:268139 semapv:UnspecifiedMatching +GARD:20946 Mycophenolate mofetil embryopathy skos:exactMatch Orphanet:268249 semapv:UnspecifiedMatching +GARD:20947 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:exactMatch Orphanet:268261 semapv:UnspecifiedMatching +GARD:20948 Complication in hemodialysis skos:exactMatch Orphanet:268316 semapv:UnspecifiedMatching +GARD:20949 Open iniencephaly skos:exactMatch Orphanet:268363 semapv:UnspecifiedMatching +GARD:20950 Closed iniencephaly skos:exactMatch Orphanet:268366 semapv:UnspecifiedMatching +GARD:20951 Spina bifida aperta skos:exactMatch Orphanet:268369 semapv:UnspecifiedMatching +GARD:20952 Total spina bifida aperta skos:exactMatch Orphanet:268377 semapv:UnspecifiedMatching +GARD:20953 Thoracolumbosacral spina bifida aperta skos:exactMatch Orphanet:268384 semapv:UnspecifiedMatching +GARD:20954 Lumbosacral spina bifida aperta skos:exactMatch Orphanet:268388 semapv:UnspecifiedMatching +GARD:20955 Cervical spina bifida aperta skos:exactMatch Orphanet:268392 semapv:UnspecifiedMatching +GARD:20956 Cervicothoracic spina bifida aperta skos:exactMatch Orphanet:268397 semapv:UnspecifiedMatching +GARD:20957 Upper thoracic spina bifida aperta skos:exactMatch Orphanet:268740 semapv:UnspecifiedMatching +GARD:20958 Spina bifida cystica skos:exactMatch Orphanet:268744 semapv:UnspecifiedMatching +GARD:20959 Total spina bifida cystica skos:exactMatch Orphanet:268748 semapv:UnspecifiedMatching +GARD:2096 Acrocephalopolydactyly skos:exactMatch Orphanet:221054 semapv:UnspecifiedMatching +GARD:2096 Acrocephalopolydactyly skos:narrowMatch OMIM:200995 semapv:UnspecifiedMatching +GARD:20960 Thoracolumbosacral spina bifida cystica skos:exactMatch Orphanet:268752 semapv:UnspecifiedMatching +GARD:20961 Lumbosacral spina bifida cystica skos:exactMatch Orphanet:268758 semapv:UnspecifiedMatching +GARD:20962 Cervical spina bifida cystica skos:exactMatch Orphanet:268762 semapv:UnspecifiedMatching +GARD:20963 Cervicothoracic spina bifida cystica skos:exactMatch Orphanet:268766 semapv:UnspecifiedMatching +GARD:20964 Upper thoracic spina bifida cystica skos:exactMatch Orphanet:268770 semapv:UnspecifiedMatching +GARD:20965 Posterior meningocele skos:exactMatch Orphanet:268810 semapv:UnspecifiedMatching +GARD:20966 Myelocystocele skos:exactMatch Orphanet:268813 semapv:UnspecifiedMatching +GARD:20967 Cephalocele skos:exactMatch Orphanet:268817 semapv:UnspecifiedMatching +GARD:20968 Cranial meningocele skos:exactMatch Orphanet:268820 semapv:UnspecifiedMatching +GARD:20969 Occipital encephalocele skos:exactMatch Orphanet:268823 semapv:UnspecifiedMatching +GARD:20970 Parietal encephalocele skos:exactMatch Orphanet:268826 semapv:UnspecifiedMatching +GARD:20971 Basal encephalocele skos:exactMatch Orphanet:268829 semapv:UnspecifiedMatching +GARD:20972 Lipoma associated with neurospinal dysraphism skos:exactMatch Orphanet:268832 semapv:UnspecifiedMatching +GARD:20973 Leptomyelolipoma skos:exactMatch Orphanet:268838 semapv:UnspecifiedMatching +GARD:20974 Malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 semapv:UnspecifiedMatching +GARD:20975 Neurenteric cyst skos:exactMatch Orphanet:268865 semapv:UnspecifiedMatching +GARD:20976 Isolated amyelia skos:exactMatch Orphanet:268868 semapv:UnspecifiedMatching +GARD:20977 Isolated megalencephaly skos:exactMatch Orphanet:268920 semapv:UnspecifiedMatching +GARD:20978 Midline cerebral malformation skos:exactMatch Orphanet:268926 semapv:UnspecifiedMatching +GARD:20979 Isolated arhinencephaly skos:exactMatch Orphanet:268936 semapv:UnspecifiedMatching +GARD:2098 Microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch Orphanet:2516 semapv:UnspecifiedMatching +GARD:2098 Microcephaly-cardiac defect-lung malsegmentation syndrome skos:narrowMatch OMIM:601355 semapv:UnspecifiedMatching +GARD:20980 Unilateral polymicrogyria skos:exactMatch Orphanet:268943 semapv:UnspecifiedMatching +GARD:20981 Unilateral focal polymicrogyria skos:exactMatch Orphanet:268947 semapv:UnspecifiedMatching +GARD:20982 Cerebral cortical dysplasia skos:exactMatch Orphanet:268950 semapv:UnspecifiedMatching +GARD:20983 Isolated focal cortical dysplasia type I skos:exactMatch Orphanet:268961 semapv:UnspecifiedMatching +GARD:20984 Isolated focal cortical dysplasia type Ia skos:exactMatch Orphanet:268973 semapv:UnspecifiedMatching +GARD:20985 Isolated focal cortical dysplasia type Ib skos:exactMatch Orphanet:268980 semapv:UnspecifiedMatching +GARD:20986 Isolated focal cortical dysplasia type Ic skos:exactMatch Orphanet:268987 semapv:UnspecifiedMatching +GARD:20987 Encephaloclastic disorder skos:exactMatch Orphanet:269190 semapv:UnspecifiedMatching +GARD:20988 Central nervous system cystic malformation skos:exactMatch Orphanet:269194 semapv:UnspecifiedMatching +GARD:20989 Glioependymal/ependymal cyst skos:exactMatch Orphanet:269197 semapv:UnspecifiedMatching +GARD:20990 Isolated cerebellar vermis agenesis skos:exactMatch Orphanet:269203 semapv:UnspecifiedMatching +GARD:20991 Isolated total cerebellar vermis agenesis skos:exactMatch Orphanet:269206 semapv:UnspecifiedMatching +GARD:20992 Isolated partial cerebellar vermis agenesis skos:exactMatch Orphanet:269209 semapv:UnspecifiedMatching +GARD:20993 Isolated Dandy-Walker malformation with hydrocephalus skos:exactMatch Orphanet:269212 semapv:UnspecifiedMatching +GARD:20994 Isolated Dandy-Walker malformation without hydrocephalus skos:exactMatch Orphanet:269215 semapv:UnspecifiedMatching +GARD:20995 Isolated unilateral hemispheric cerebellar hypoplasia skos:exactMatch Orphanet:269218 semapv:UnspecifiedMatching +GARD:20996 Isolated bilateral hemispheric cerebellar hypoplasia skos:exactMatch Orphanet:269221 semapv:UnspecifiedMatching +GARD:20997 Global cerebellar malformation skos:exactMatch Orphanet:269224 semapv:UnspecifiedMatching +GARD:20998 Congenital communicating hydrocephalus skos:exactMatch Orphanet:269505 semapv:UnspecifiedMatching +GARD:20999 Syndrome with a cerebellar malformation as a major feature skos:exactMatch Orphanet:269523 semapv:UnspecifiedMatching +GARD:21000 Syndrome with microcephaly as a major feature skos:exactMatch Orphanet:269528 semapv:UnspecifiedMatching +GARD:21001 Other syndrome with a central nervous system malformation as a major feature skos:exactMatch Orphanet:269531 semapv:UnspecifiedMatching +GARD:21002 Syndrome with a Dandy-Walker malformation as a major feature skos:exactMatch Orphanet:269546 semapv:UnspecifiedMatching +GARD:21003 Genetic non-syndromic central nervous system malformation skos:exactMatch Orphanet:269550 semapv:UnspecifiedMatching +GARD:21004 Genetic cerebral malformation skos:exactMatch Orphanet:269553 semapv:UnspecifiedMatching +GARD:21005 Genetic posterior fossa malformation skos:exactMatch Orphanet:269557 semapv:UnspecifiedMatching +GARD:21006 Genetic cerebellar malformation skos:exactMatch Orphanet:269560 semapv:UnspecifiedMatching +GARD:21007 Genetic syndrome with a central nervous system malformation as a major feature skos:exactMatch Orphanet:269564 semapv:UnspecifiedMatching +GARD:21008 Genetic syndrome with a cerebellar malformation as a major feature skos:exactMatch Orphanet:269567 semapv:UnspecifiedMatching +GARD:21009 Genetic syndrome with a Dandy-Walker malformation as a major feature skos:exactMatch Orphanet:269570 semapv:UnspecifiedMatching +GARD:21010 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 semapv:UnspecifiedMatching +GARD:21011 Genetic soft tissue tumor skos:exactMatch Orphanet:271832 semapv:UnspecifiedMatching +GARD:21012 Genetic digestive tract tumor skos:exactMatch Orphanet:271835 semapv:UnspecifiedMatching +GARD:21013 Genetic cardiac tumor skos:exactMatch Orphanet:271841 semapv:UnspecifiedMatching +GARD:21014 Genetic urogenital tumor skos:exactMatch Orphanet:271844 semapv:UnspecifiedMatching +GARD:21015 Genetic neuroendocrine tumor skos:exactMatch Orphanet:271847 semapv:UnspecifiedMatching +GARD:21016 Genetic cardiac anomaly skos:exactMatch Orphanet:271853 semapv:UnspecifiedMatching +GARD:21017 Hereditary ATTR amyloidosis skos:exactMatch Orphanet:271861 semapv:UnspecifiedMatching +GARD:21018 Rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 semapv:UnspecifiedMatching +GARD:21019 Rare hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 semapv:UnspecifiedMatching +GARD:2102 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98863 semapv:UnspecifiedMatching +GARD:2102 X-linked Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:300696 semapv:UnspecifiedMatching +GARD:2102 X-linked Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:310300 semapv:UnspecifiedMatching +GARD:21020 Rare hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 semapv:UnspecifiedMatching +GARD:21021 Genetic infertility skos:exactMatch Orphanet:275742 semapv:UnspecifiedMatching +GARD:21022 Alpha-thalassemia and related disorders skos:exactMatch Orphanet:275745 semapv:UnspecifiedMatching +GARD:21023 Beta-thalassemia and related diseases skos:exactMatch Orphanet:275749 semapv:UnspecifiedMatching +GARD:21024 Sickle cell disease and related diseases skos:exactMatch Orphanet:275752 semapv:UnspecifiedMatching +GARD:21025 Idiopathic pulmonary arterial hypertension skos:exactMatch Orphanet:275766 semapv:UnspecifiedMatching +GARD:21026 Drug- or toxin-induced pulmonary arterial hypertension skos:exactMatch Orphanet:275786 semapv:UnspecifiedMatching +GARD:21027 Pulmonary arterial hypertension associated with another disease skos:exactMatch Orphanet:275791 semapv:UnspecifiedMatching +GARD:21028 Pulmonary arterial hypertension associated with connective tissue disease skos:exactMatch Orphanet:275798 semapv:UnspecifiedMatching +GARD:21029 Pulmonary arterial hypertension associated with congenital heart disease skos:exactMatch Orphanet:275803 semapv:UnspecifiedMatching +GARD:21030 Pulmonary arterial hypertension associated with HIV infection skos:exactMatch Orphanet:275808 semapv:UnspecifiedMatching +GARD:21031 Pulmonary arterial hypertension associated with portal hypertension skos:exactMatch Orphanet:275813 semapv:UnspecifiedMatching +GARD:21032 Pulmonary arterial hypertension associated with schistosomiasis skos:exactMatch Orphanet:275823 semapv:UnspecifiedMatching +GARD:21033 Pulmonary arterial hypertension associated with chronic hemolytic anemia skos:exactMatch Orphanet:275828 semapv:UnspecifiedMatching +GARD:21034 Pulmonary hypertension owing to lung disease and/or hypoxia skos:exactMatch Orphanet:275837 semapv:UnspecifiedMatching +GARD:21035 Pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 semapv:UnspecifiedMatching +GARD:21036 Syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 semapv:UnspecifiedMatching +GARD:21037 Hemolytic disease due to fetomaternal alloimmunization skos:exactMatch Orphanet:275938 semapv:UnspecifiedMatching +GARD:21038 Hemolytic disease of the newborn with Kell alloimmunization skos:exactMatch Orphanet:275944 semapv:UnspecifiedMatching +GARD:21039 Genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 semapv:UnspecifiedMatching +GARD:2104 Congenital lobar emphysema skos:exactMatch Orphanet:1928 semapv:UnspecifiedMatching +GARD:2104 Congenital lobar emphysema skos:narrowMatch OMIM:130710 semapv:UnspecifiedMatching +GARD:21040 Genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 semapv:UnspecifiedMatching +GARD:21041 Bile acid CoA ligase deficiency and defective amidation skos:exactMatch Orphanet:276066 semapv:UnspecifiedMatching +GARD:21042 Rare tumor of salivary glands skos:exactMatch Orphanet:276142 semapv:UnspecifiedMatching +GARD:21043 Malignant epithelial tumor of salivary glands skos:exactMatch Orphanet:276145 semapv:UnspecifiedMatching +GARD:21044 Multiple endocrine neoplasia skos:exactMatch Orphanet:276161 semapv:UnspecifiedMatching +GARD:21045 Idiopathic recurrent stupor skos:exactMatch Orphanet:276174 semapv:UnspecifiedMatching +GARD:21046 Mucopolysaccharidosis type 6, rapidly progressing skos:exactMatch Orphanet:276212 semapv:UnspecifiedMatching +GARD:21047 Mucopolysaccharidosis type 6, slowly progressing skos:exactMatch Orphanet:276223 semapv:UnspecifiedMatching +GARD:21048 Machado-Joseph disease type 1 skos:exactMatch Orphanet:276238 semapv:UnspecifiedMatching +GARD:21049 Machado-Joseph disease type 2 skos:exactMatch Orphanet:276241 semapv:UnspecifiedMatching +GARD:21050 Machado-Joseph disease type 3 skos:exactMatch Orphanet:276244 semapv:UnspecifiedMatching +GARD:21051 Hemihyperplasia-multiple lipomatosis syndrome skos:exactMatch Orphanet:276280 semapv:UnspecifiedMatching +GARD:21052 10q22.3q23.3 microduplication syndrome skos:exactMatch Orphanet:276422 semapv:UnspecifiedMatching +GARD:21053 Familial hyperinsulinism skos:exactMatch Orphanet:276525 semapv:UnspecifiedMatching +GARD:21054 Hyperinsulinism due to UCP2 deficiency skos:exactMatch Orphanet:276556 semapv:UnspecifiedMatching +GARD:21055 Diazoxide-resistant hyperinsulinism skos:exactMatch Orphanet:276585 semapv:UnspecifiedMatching +GARD:21056 Non-insulinoma pancreatogenous hypoglycemia syndrome skos:exactMatch Orphanet:276608 semapv:UnspecifiedMatching +GARD:21057 Symptomatic form of Coffin-Lowry syndrome in female carriers skos:exactMatch Orphanet:276630 semapv:UnspecifiedMatching +GARD:21058 Spasmus nutans skos:exactMatch Orphanet:279882 semapv:UnspecifiedMatching +GARD:21059 Acute endophthalmitis skos:exactMatch Orphanet:279888 semapv:UnspecifiedMatching +GARD:21060 Chronic endophthalmitis skos:exactMatch Orphanet:279891 semapv:UnspecifiedMatching +GARD:21061 Toxic maculopathy due to antimalarial drugs skos:exactMatch Orphanet:279894 semapv:UnspecifiedMatching +GARD:21062 Primary oculocerebral lymphoma skos:exactMatch Orphanet:279897 semapv:UnspecifiedMatching +GARD:21063 Primary intraocular lymphoma skos:exactMatch Orphanet:279904 semapv:UnspecifiedMatching +GARD:21064 Primary organ-specific lymphoma skos:exactMatch Orphanet:279911 semapv:UnspecifiedMatching +GARD:21065 Intermediate uveitis skos:exactMatch Orphanet:279914 semapv:UnspecifiedMatching +GARD:21066 Infectious posterior uveitis skos:exactMatch Orphanet:279919 semapv:UnspecifiedMatching +GARD:21067 Infectious anterior uveitis skos:exactMatch Orphanet:279922 semapv:UnspecifiedMatching +GARD:21068 Infectious panuveitis skos:exactMatch Orphanet:279925 semapv:UnspecifiedMatching +GARD:21069 Paraneoplastic uveitis skos:exactMatch Orphanet:279928 semapv:UnspecifiedMatching +GARD:21070 Calciphylaxis cutis skos:exactMatch Orphanet:280065 semapv:UnspecifiedMatching +GARD:21071 Visceral calciphylaxis skos:exactMatch Orphanet:280068 semapv:UnspecifiedMatching +GARD:21072 Laryngotracheoesophageal cleft type 0 skos:exactMatch Orphanet:280205 semapv:UnspecifiedMatching +GARD:21073 Pelizaeus-Merzbacher disease, classic form skos:exactMatch Orphanet:280219 semapv:UnspecifiedMatching +GARD:21074 Pelizaeus-Merzbacher disease, transitional form skos:exactMatch Orphanet:280224 semapv:UnspecifiedMatching +GARD:21075 Pelizaeus-Merzbacher disease in female carriers skos:exactMatch Orphanet:280229 semapv:UnspecifiedMatching +GARD:21076 Autoimmune pancreatitis type 1 skos:exactMatch Orphanet:280302 semapv:UnspecifiedMatching +GARD:21077 Autoimmune pancreatitis type 2 skos:exactMatch Orphanet:280315 semapv:UnspecifiedMatching +GARD:21078 Distal monosomy 12p skos:exactMatch Orphanet:280325 semapv:UnspecifiedMatching +GARD:21079 Rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 semapv:UnspecifiedMatching +GARD:2108 Encephalocraniocutaneous lipomatosis skos:exactMatch Orphanet:2396 semapv:UnspecifiedMatching +GARD:2108 Encephalocraniocutaneous lipomatosis skos:narrowMatch OMIM:613001 semapv:UnspecifiedMatching +GARD:21080 Autosomal semi-dominant severe lipodystrophic laminopathy skos:exactMatch Orphanet:280365 semapv:UnspecifiedMatching +GARD:21081 Rare pediatric vasculitis skos:exactMatch Orphanet:280369 semapv:UnspecifiedMatching +GARD:21082 Rare pediatric systemic disease skos:exactMatch Orphanet:280373 semapv:UnspecifiedMatching +GARD:21083 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:exactMatch Orphanet:280384 semapv:UnspecifiedMatching +GARD:21084 Familial Alzheimer-like prion disease skos:exactMatch Orphanet:280397 semapv:UnspecifiedMatching +GARD:21085 Inherited human prion disease skos:exactMatch Orphanet:280400 semapv:UnspecifiedMatching +GARD:21086 Familial omphalocele syndrome with facial dysmorphism skos:exactMatch Orphanet:280403 semapv:UnspecifiedMatching +GARD:21087 Generalized essential telangiectasia skos:exactMatch Orphanet:280774 semapv:UnspecifiedMatching +GARD:21088 Bullous diffuse cutaneous mastocytosis skos:exactMatch Orphanet:280785 semapv:UnspecifiedMatching +GARD:21089 Pseudoxanthomatous diffuse cutaneous mastocytosis skos:exactMatch Orphanet:280794 semapv:UnspecifiedMatching +GARD:21090 Intralobar congenital pulmonary sequestration skos:exactMatch Orphanet:280802 semapv:UnspecifiedMatching +GARD:21091 Extralobar congenital pulmonary sequestration skos:exactMatch Orphanet:280811 semapv:UnspecifiedMatching +GARD:21092 Communicating congenital bronchopulmonary-foregut malformation skos:exactMatch Orphanet:280821 semapv:UnspecifiedMatching +GARD:21093 Congenital pulmonary airway malformation type 0 skos:exactMatch Orphanet:280827 semapv:UnspecifiedMatching +GARD:21094 Congenital pulmonary airway malformation type 1 skos:exactMatch Orphanet:280832 semapv:UnspecifiedMatching +GARD:21095 Congenital pulmonary airway malformation type 2 skos:exactMatch Orphanet:280840 semapv:UnspecifiedMatching +GARD:21096 Congenital pulmonary airway malformation type 3 skos:exactMatch Orphanet:280847 semapv:UnspecifiedMatching +GARD:21097 Congenital pulmonary airway malformation type 4 skos:exactMatch Orphanet:280854 semapv:UnspecifiedMatching +GARD:21098 Idiopathic anterior uveitis skos:exactMatch Orphanet:280914 semapv:UnspecifiedMatching +GARD:21099 Idiopathic posterior uveitis skos:exactMatch Orphanet:280917 semapv:UnspecifiedMatching +GARD:21100 Idiopathic panuveitis skos:exactMatch Orphanet:280921 semapv:UnspecifiedMatching +GARD:21101 Systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 semapv:UnspecifiedMatching +GARD:21102 Systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 semapv:UnspecifiedMatching +GARD:21103 Systemic diseases with panuveitis skos:exactMatch Orphanet:280933 semapv:UnspecifiedMatching +GARD:21104 Inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 semapv:UnspecifiedMatching +GARD:21105 Inherited ichthyosis syndromic form skos:exactMatch Orphanet:281085 semapv:UnspecifiedMatching +GARD:21106 Autosomal recessive congenital ichthyosis skos:exactMatch Orphanet:281097 semapv:UnspecifiedMatching +GARD:21107 Keratinopathic ichthyosis skos:exactMatch Orphanet:281103 semapv:UnspecifiedMatching +GARD:21108 Acral self-healing collodion baby skos:exactMatch Orphanet:281127 semapv:UnspecifiedMatching +GARD:21109 X-linked ichthyosis syndrome skos:exactMatch Orphanet:281210 semapv:UnspecifiedMatching +GARD:21110 Autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 semapv:UnspecifiedMatching +GARD:21111 Autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 semapv:UnspecifiedMatching +GARD:21112 Autosomal ichthyosis syndrome with prominent neurologic signs skos:exactMatch Orphanet:281238 semapv:UnspecifiedMatching +GARD:21113 Autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 semapv:UnspecifiedMatching +GARD:21114 Autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 semapv:UnspecifiedMatching +GARD:21115 Partial deletion of chromosome 12 skos:exactMatch Orphanet:282124 semapv:UnspecifiedMatching +GARD:21116 Autoimmune polyendocrinopathy skos:exactMatch Orphanet:282196 semapv:UnspecifiedMatching +GARD:21117 Xp22.13p22.2 duplication syndrome skos:exactMatch Orphanet:284180 semapv:UnspecifiedMatching +GARD:21118 Fetal lung interstitial tumor skos:exactMatch Orphanet:284362 semapv:UnspecifiedMatching +GARD:21119 Familial intrahepatic cholestasis skos:exactMatch Orphanet:284385 semapv:UnspecifiedMatching +GARD:21120 Well-differentiated fetal adenocarcinoma of the lung skos:exactMatch Orphanet:284395 semapv:UnspecifiedMatching +GARD:21121 Acute annular outer retinopathy skos:exactMatch Orphanet:284460 semapv:UnspecifiedMatching +GARD:21122 Qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 semapv:UnspecifiedMatching +GARD:21123 Qualitative or quantitative defects of tropomyosin skos:exactMatch Orphanet:284790 semapv:UnspecifiedMatching +GARD:21124 Ocular albinism skos:exactMatch Orphanet:284804 semapv:UnspecifiedMatching +GARD:21125 Syndromic oculocutaneous albinism skos:exactMatch Orphanet:284811 semapv:UnspecifiedMatching +GARD:21126 Disorder of phenylalanine metabolism skos:exactMatch Orphanet:284814 semapv:UnspecifiedMatching +GARD:21127 Disorder of tyrosine metabolism skos:exactMatch Orphanet:284818 semapv:UnspecifiedMatching +GARD:21128 Neonatal Marfan syndrome skos:exactMatch Orphanet:284979 semapv:UnspecifiedMatching +GARD:21129 Marfan syndrome and Marfan-related disorders skos:exactMatch Orphanet:284993 semapv:UnspecifiedMatching +GARD:2113 Bonnemann-Meinecke-Reich syndrome skos:exactMatch Orphanet:1261 semapv:UnspecifiedMatching +GARD:2113 Bonnemann-Meinecke-Reich syndrome skos:narrowMatch OMIM:225755 semapv:UnspecifiedMatching +GARD:21130 Rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 semapv:UnspecifiedMatching +GARD:21131 Disorder of folate metabolism and transport skos:exactMatch Orphanet:285657 semapv:UnspecifiedMatching +GARD:21132 Disorders of vitamin D metabolism skos:exactMatch Orphanet:289098 semapv:UnspecifiedMatching +GARD:21133 Hypocalcemic rickets skos:exactMatch Orphanet:289103 semapv:UnspecifiedMatching +GARD:21134 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch Orphanet:289266 semapv:UnspecifiedMatching +GARD:21135 Infective dermatitis associated with HTLV-1 skos:exactMatch Orphanet:289347 semapv:UnspecifiedMatching +GARD:21136 Primary non-gestational choriocarcinoma of ovary skos:exactMatch Orphanet:289356 semapv:UnspecifiedMatching +GARD:21137 Non-central nervous system-localized embryonal carcinoma skos:exactMatch Orphanet:289362 semapv:UnspecifiedMatching +GARD:21138 Malignancy diagnosed during pregnancy skos:exactMatch Orphanet:289385 semapv:UnspecifiedMatching +GARD:21139 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:exactMatch Orphanet:289478 semapv:UnspecifiedMatching +GARD:21140 4H leukodystrophy skos:exactMatch Orphanet:289494 semapv:UnspecifiedMatching +GARD:21141 12q15q21.1 microdeletion syndrome skos:exactMatch Orphanet:289513 semapv:UnspecifiedMatching +GARD:21142 Microtriplication 11q24.1 skos:exactMatch Orphanet:289522 semapv:UnspecifiedMatching +GARD:21143 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:exactMatch Orphanet:289548 semapv:UnspecifiedMatching +GARD:21144 Juvenile nasopharyngeal angiofibroma skos:exactMatch Orphanet:289596 semapv:UnspecifiedMatching +GARD:21145 Rare virus associated tumor skos:exactMatch Orphanet:289635 semapv:UnspecifiedMatching +GARD:21146 Epstein-Barr Virus-related tumor skos:exactMatch Orphanet:289638 semapv:UnspecifiedMatching +GARD:21147 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:exactMatch Orphanet:289644 semapv:UnspecifiedMatching +GARD:21148 Epstein-Barr Virus-associated carcinoma skos:exactMatch Orphanet:289651 semapv:UnspecifiedMatching +GARD:21149 Epstein-Barr Virus-associated mesenchymal tumor skos:exactMatch Orphanet:289656 semapv:UnspecifiedMatching +GARD:21150 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch Orphanet:289661 semapv:UnspecifiedMatching +GARD:21151 Lymphoepithelial-like carcinoma skos:exactMatch Orphanet:289682 semapv:UnspecifiedMatching +GARD:21152 Myopericytoma skos:exactMatch Orphanet:289685 semapv:UnspecifiedMatching +GARD:21153 Late-onset primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:289825 semapv:UnspecifiedMatching +GARD:21154 Disorder of tryptophan metabolism skos:exactMatch Orphanet:289829 semapv:UnspecifiedMatching +GARD:21155 Disorder of lysine and hydroxylysine metabolism skos:exactMatch Orphanet:289832 semapv:UnspecifiedMatching +GARD:21156 Disorder of glutamine metabolism skos:exactMatch Orphanet:289841 semapv:UnspecifiedMatching +GARD:21157 Disorder of proline metabolism skos:exactMatch Orphanet:289866 semapv:UnspecifiedMatching +GARD:21158 Disorder of ornithine metabolism skos:exactMatch Orphanet:289869 semapv:UnspecifiedMatching +GARD:21159 Transient hyperammonemia of the newborn skos:exactMatch Orphanet:289877 semapv:UnspecifiedMatching +GARD:21160 Systemic disease with skin involvement skos:exactMatch Orphanet:290836 semapv:UnspecifiedMatching +GARD:21161 Autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 semapv:UnspecifiedMatching +GARD:21162 Autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 semapv:UnspecifiedMatching +GARD:21163 Rare head and neck tumor skos:exactMatch Orphanet:290849 semapv:UnspecifiedMatching +GARD:21164 Acute generalized exanthematous pustulosis skos:exactMatch Orphanet:293173 semapv:UnspecifiedMatching +GARD:21165 Pleomorphic rhabdomyosarcoma skos:exactMatch Orphanet:293199 semapv:UnspecifiedMatching +GARD:21166 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch Orphanet:293284 semapv:UnspecifiedMatching +GARD:21167 Grayson-Wilbrandt corneal dystrophy skos:exactMatch Orphanet:293375 semapv:UnspecifiedMatching +GARD:21168 Pre-Descemet corneal dystrophy skos:exactMatch Orphanet:293462 semapv:UnspecifiedMatching +GARD:21169 Ketamine-induced biliary dilatation skos:exactMatch Orphanet:293807 semapv:UnspecifiedMatching +GARD:21170 Fixed drug eruption skos:exactMatch Orphanet:293812 semapv:UnspecifiedMatching +GARD:21171 Toxic dermatosis skos:exactMatch Orphanet:293815 semapv:UnspecifiedMatching +GARD:21172 Constitutional dyserythropoietic anemia skos:exactMatch Orphanet:293830 semapv:UnspecifiedMatching +GARD:21173 1p21.3 microdeletion syndrome skos:exactMatch Orphanet:293948 semapv:UnspecifiedMatching +GARD:21174 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:exactMatch Orphanet:293967 semapv:UnspecifiedMatching +GARD:21175 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication skos:exactMatch Orphanet:294026 semapv:UnspecifiedMatching +GARD:21176 Rare nevus skos:exactMatch Orphanet:294057 semapv:UnspecifiedMatching +GARD:21177 Multiple pterygium syndrome skos:exactMatch Orphanet:294060 semapv:UnspecifiedMatching +GARD:21178 Chronic intestinal failure skos:exactMatch Orphanet:294422 semapv:UnspecifiedMatching +GARD:21179 Amelia skos:exactMatch Orphanet:294925 semapv:UnspecifiedMatching +GARD:21180 Intercalary limb defects skos:exactMatch Orphanet:294927 semapv:UnspecifiedMatching +GARD:21181 Congenital deformities of limbs skos:exactMatch Orphanet:294944 semapv:UnspecifiedMatching +GARD:21182 Congenital deformities of fingers skos:exactMatch Orphanet:294947 semapv:UnspecifiedMatching +GARD:21183 Joint formation defects skos:exactMatch Orphanet:294949 semapv:UnspecifiedMatching +GARD:21184 Congenital joint dislocations skos:exactMatch Orphanet:294951 semapv:UnspecifiedMatching +GARD:21185 Non syndromic limb overgrowth skos:exactMatch Orphanet:294953 semapv:UnspecifiedMatching +GARD:21186 Syndrome with limb reduction defects skos:exactMatch Orphanet:294955 semapv:UnspecifiedMatching +GARD:21187 Dysostosis with combined reduction defects of upper and lower limbs skos:exactMatch Orphanet:294957 semapv:UnspecifiedMatching +GARD:21188 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy skos:exactMatch Orphanet:294959 semapv:UnspecifiedMatching +GARD:21189 Popliteal pterygium syndrome skos:exactMatch Orphanet:294963 semapv:UnspecifiedMatching +GARD:21190 Amelia of upper limb skos:exactMatch Orphanet:294967 semapv:UnspecifiedMatching +GARD:21191 Amelia of lower limb skos:exactMatch Orphanet:294969 semapv:UnspecifiedMatching +GARD:21192 Humeral agenesis/hypoplasia skos:exactMatch Orphanet:294973 semapv:UnspecifiedMatching +GARD:21193 Congenital absence of thigh and lower leg with foot present skos:exactMatch Orphanet:294977 semapv:UnspecifiedMatching +GARD:21194 Congenital absence of both forearm and hand skos:exactMatch Orphanet:294979 semapv:UnspecifiedMatching +GARD:21195 Congenital absence of both lower leg and foot skos:exactMatch Orphanet:294981 semapv:UnspecifiedMatching +GARD:21196 Acheiria skos:exactMatch Orphanet:294983 semapv:UnspecifiedMatching +GARD:21197 Apodia skos:exactMatch Orphanet:294986 semapv:UnspecifiedMatching +GARD:21198 Congenital hypoplasia of thumb skos:exactMatch Orphanet:294988 semapv:UnspecifiedMatching +GARD:21199 Hyperphalangy skos:exactMatch Orphanet:295002 semapv:UnspecifiedMatching +GARD:212 Oculodental syndrome, Rutherfurd type skos:exactMatch Orphanet:2709 semapv:UnspecifiedMatching +GARD:212 Oculodental syndrome, Rutherfurd type skos:narrowMatch OMIM:180900 semapv:UnspecifiedMatching +GARD:21200 Central polydactyly skos:exactMatch Orphanet:295004 semapv:UnspecifiedMatching +GARD:21201 Syndactyly type 6 skos:exactMatch Orphanet:295012 semapv:UnspecifiedMatching +GARD:21202 Familial isolated clinodactyly of fingers skos:exactMatch Orphanet:295014 semapv:UnspecifiedMatching +GARD:21203 Congenital pseudoarthrosis of the tibia skos:exactMatch Orphanet:295018 semapv:UnspecifiedMatching +GARD:21204 Congenital pseudoarthrosis of the femur skos:exactMatch Orphanet:295020 semapv:UnspecifiedMatching +GARD:21205 Congenital pseudoarthrosis of the fibula skos:exactMatch Orphanet:295022 semapv:UnspecifiedMatching +GARD:21206 Congenital pseudoarthrosis of the radius skos:exactMatch Orphanet:295024 semapv:UnspecifiedMatching +GARD:21207 Congenital pseudoarthrosis of the ulna skos:exactMatch Orphanet:295026 semapv:UnspecifiedMatching +GARD:21208 Tibio-fibular synostosis skos:exactMatch Orphanet:295028 semapv:UnspecifiedMatching +GARD:21209 True congenital shoulder dislocation skos:exactMatch Orphanet:295030 semapv:UnspecifiedMatching +GARD:21210 Isolated congenital radial head dislocation skos:exactMatch Orphanet:295032 semapv:UnspecifiedMatching +GARD:21211 Congenital knee dislocation skos:exactMatch Orphanet:295034 semapv:UnspecifiedMatching +GARD:21212 Upper limb hypertrophy skos:exactMatch Orphanet:295049 semapv:UnspecifiedMatching +GARD:21213 Lower limb hypertrophy skos:exactMatch Orphanet:295051 semapv:UnspecifiedMatching +GARD:21214 Zygodactyly type 2 skos:exactMatch Orphanet:295189 semapv:UnspecifiedMatching +GARD:21215 Zygodactyly type 3 skos:exactMatch Orphanet:295191 semapv:UnspecifiedMatching +GARD:21216 Zygodactyly type 4 skos:exactMatch Orphanet:295193 semapv:UnspecifiedMatching +GARD:21217 Congenital vertical talus, unilateral skos:exactMatch Orphanet:295201 semapv:UnspecifiedMatching +GARD:21218 Congenital vertical talus, bilateral skos:exactMatch Orphanet:295203 semapv:UnspecifiedMatching +GARD:21219 Humero-ulnar synostosis, unilateral skos:exactMatch Orphanet:295213 semapv:UnspecifiedMatching +GARD:21220 Humero-ulnar synostosis, bilateral skos:exactMatch Orphanet:295215 semapv:UnspecifiedMatching +GARD:21221 Radio-ulnar synostosis, unilateral skos:exactMatch Orphanet:295217 semapv:UnspecifiedMatching +GARD:21222 Radio-ulnar synostosis, bilateral skos:exactMatch Orphanet:295219 semapv:UnspecifiedMatching +GARD:21223 Congenital elbow dislocation, unilateral skos:exactMatch Orphanet:295225 semapv:UnspecifiedMatching +GARD:21224 Congenital elbow dislocation, bilateral skos:exactMatch Orphanet:295227 semapv:UnspecifiedMatching +GARD:21225 Congenital genu recurvatum skos:exactMatch Orphanet:295229 semapv:UnspecifiedMatching +GARD:21226 Congenital genu flexum skos:exactMatch Orphanet:295232 semapv:UnspecifiedMatching +GARD:21227 Macrodactyly of fingers, unilateral skos:exactMatch Orphanet:295239 semapv:UnspecifiedMatching +GARD:21228 Macrodactyly of fingers, bilateral skos:exactMatch Orphanet:295241 semapv:UnspecifiedMatching +GARD:21229 Macrodactyly of toes, unilateral skos:exactMatch Orphanet:295243 semapv:UnspecifiedMatching +GARD:2123 Eng-Strom syndrome skos:exactMatch Orphanet:1937 semapv:UnspecifiedMatching +GARD:2123 Eng-Strom syndrome skos:narrowMatch OMIM:135950 semapv:UnspecifiedMatching +GARD:21230 Macrodactyly of toes, bilateral skos:exactMatch Orphanet:295245 semapv:UnspecifiedMatching +GARD:21231 Disorder of thiamine metabolism and transport skos:exactMatch Orphanet:298644 semapv:UnspecifiedMatching +GARD:21232 11p15.4 microduplication syndrome skos:exactMatch Orphanet:300305 semapv:UnspecifiedMatching +GARD:21233 Sagliker syndrome skos:exactMatch Orphanet:300493 semapv:UnspecifiedMatching +GARD:21234 Onychomatricoma skos:exactMatch Orphanet:300512 semapv:UnspecifiedMatching +GARD:21235 Rare nail tumor skos:exactMatch Orphanet:300515 semapv:UnspecifiedMatching +GARD:21236 Follicular cholangitis and pancreatitis skos:exactMatch Orphanet:300552 semapv:UnspecifiedMatching +GARD:21237 Carcinoma of the ampulla of Vater skos:exactMatch Orphanet:300557 semapv:UnspecifiedMatching +GARD:21238 Combined pulmonary fibrosis-emphysema syndrome skos:exactMatch Orphanet:300564 semapv:UnspecifiedMatching +GARD:21239 Staphylococcal toxemia skos:exactMatch Orphanet:300579 semapv:UnspecifiedMatching +GARD:21240 Laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 semapv:UnspecifiedMatching +GARD:21241 Laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 semapv:UnspecifiedMatching +GARD:21242 Laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 semapv:UnspecifiedMatching +GARD:21243 Laminopathy with premature aging skos:exactMatch Orphanet:300766 semapv:UnspecifiedMatching +GARD:21244 Indolent B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:300842 semapv:UnspecifiedMatching +GARD:21245 Aggressive B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:300846 semapv:UnspecifiedMatching +GARD:21246 Diffuse large B-cell lymphoma of the central nervous system skos:exactMatch Orphanet:300849 semapv:UnspecifiedMatching +GARD:21247 Primary cutaneous anaplastic large cell lymphoma skos:exactMatch Orphanet:300865 semapv:UnspecifiedMatching +GARD:21248 Splenic diffuse red pulp small B-cell lymphoma skos:exactMatch Orphanet:300869 semapv:UnspecifiedMatching +GARD:21249 Hairy cell leukemia variant skos:exactMatch Orphanet:300878 semapv:UnspecifiedMatching +GARD:2125 Glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch Orphanet:99849 semapv:UnspecifiedMatching +GARD:2125 Glycogen storage disease due to muscle beta-enolase deficiency skos:narrowMatch OMIM:612932 semapv:UnspecifiedMatching +GARD:21250 Diffuse large B-cell lymphoma with chronic inflammation skos:exactMatch Orphanet:300888 semapv:UnspecifiedMatching +GARD:21251 ALK-positive anaplastic large cell lymphoma skos:exactMatch Orphanet:300895 semapv:UnspecifiedMatching +GARD:21252 ALK-negative anaplastic large cell lymphoma skos:exactMatch Orphanet:300903 semapv:UnspecifiedMatching +GARD:21253 Pituitary tumor skos:exactMatch Orphanet:304055 semapv:UnspecifiedMatching +GARD:21254 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:exactMatch Orphanet:306516 semapv:UnspecifiedMatching +GARD:21255 Myospherulosis skos:exactMatch Orphanet:306553 semapv:UnspecifiedMatching +GARD:21256 Rare tumor of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:306633 semapv:UnspecifiedMatching +GARD:21257 Rare tumor of liver and intrahepatic biliary tract skos:exactMatch Orphanet:306636 semapv:UnspecifiedMatching +GARD:21258 Rare intoxication due to medical products skos:exactMatch Orphanet:306640 semapv:UnspecifiedMatching +GARD:21259 Complication after organ transplantation skos:exactMatch Orphanet:306644 semapv:UnspecifiedMatching +GARD:21260 Non-infectious anterior uveitis skos:exactMatch Orphanet:306648 semapv:UnspecifiedMatching +GARD:21261 Rare parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 semapv:UnspecifiedMatching +GARD:21262 Hemiparkinsonism-hemiatrophy syndrome skos:exactMatch Orphanet:306669 semapv:UnspecifiedMatching +GARD:21263 Rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 semapv:UnspecifiedMatching +GARD:21264 Manganese poisoning skos:exactMatch Orphanet:306682 semapv:UnspecifiedMatching +GARD:21265 Delayed encephalopathy due to carbon monoxide poisoning skos:exactMatch Orphanet:306686 semapv:UnspecifiedMatching +GARD:21266 Cyanide-induced parkinsonism-dystonia skos:exactMatch Orphanet:306692 semapv:UnspecifiedMatching +GARD:21267 Miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 semapv:UnspecifiedMatching +GARD:21268 Frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 semapv:UnspecifiedMatching +GARD:21269 Rare tremor disorder skos:exactMatch Orphanet:306712 semapv:UnspecifiedMatching +GARD:21270 Rare choreic movement disorder skos:exactMatch Orphanet:306715 semapv:UnspecifiedMatching +GARD:21271 Neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 semapv:UnspecifiedMatching +GARD:21272 Postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 semapv:UnspecifiedMatching +GARD:21273 Hemidystonia-hemiatrophy syndrome skos:exactMatch Orphanet:306741 semapv:UnspecifiedMatching +GARD:21274 Rare myoclonus skos:exactMatch Orphanet:306747 semapv:UnspecifiedMatching +GARD:21275 Primary myoclonus skos:exactMatch Orphanet:306750 semapv:UnspecifiedMatching +GARD:21276 Rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 semapv:UnspecifiedMatching +GARD:21277 Epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306756 semapv:UnspecifiedMatching +GARD:21278 Non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 semapv:UnspecifiedMatching +GARD:21279 Motor stereotypies skos:exactMatch Orphanet:306765 semapv:UnspecifiedMatching +GARD:21280 Rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 semapv:UnspecifiedMatching +GARD:21281 Hyperekplexia skos:exactMatch Orphanet:306773 semapv:UnspecifiedMatching +GARD:21282 Sporadic hyperekplexia skos:exactMatch Orphanet:306776 semapv:UnspecifiedMatching +GARD:21283 Rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 semapv:UnspecifiedMatching +GARD:21284 Rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 semapv:UnspecifiedMatching +GARD:21285 Miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 semapv:UnspecifiedMatching +GARD:21286 Rare genetic tremor disorder skos:exactMatch Orphanet:307061 semapv:UnspecifiedMatching +GARD:21287 Rare genetic myoclonus skos:exactMatch Orphanet:307064 semapv:UnspecifiedMatching +GARD:21288 Rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 semapv:UnspecifiedMatching +GARD:21289 Diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307141 semapv:UnspecifiedMatching +GARD:21290 Isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 semapv:UnspecifiedMatching +GARD:21291 Disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 semapv:UnspecifiedMatching +GARD:21292 Autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 semapv:UnspecifiedMatching +GARD:21293 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 semapv:UnspecifiedMatching +GARD:21294 Focal palmoplantar keratoderma skos:exactMatch Orphanet:307837 semapv:UnspecifiedMatching +GARD:21295 Isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 semapv:UnspecifiedMatching +GARD:21296 Disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 semapv:UnspecifiedMatching +GARD:21297 Punctate palmoplantar keratoderma skos:exactMatch Orphanet:307967 semapv:UnspecifiedMatching +GARD:21298 Marginal papular palmoplantar keratoderma skos:exactMatch Orphanet:307995 semapv:UnspecifiedMatching +GARD:21299 Focal acral hyperkeratosis skos:exactMatch Orphanet:308013 semapv:UnspecifiedMatching +GARD:213 Axial mesodermal dysplasia spectrum skos:exactMatch Orphanet:1834 semapv:UnspecifiedMatching +GARD:2130 Congenital enterovirus infection skos:exactMatch Orphanet:292 semapv:UnspecifiedMatching +GARD:21300 Disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 semapv:UnspecifiedMatching +GARD:21301 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 semapv:UnspecifiedMatching +GARD:21302 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 semapv:UnspecifiedMatching +GARD:21303 Disorder of beta and omega amino acid metabolism skos:exactMatch Orphanet:308407 semapv:UnspecifiedMatching +GARD:21304 Aminoacylase deficiency skos:exactMatch Orphanet:308448 semapv:UnspecifiedMatching +GARD:21305 Disorder of neutral amino acid transport skos:exactMatch Orphanet:308451 semapv:UnspecifiedMatching +GARD:21306 Disorder of glycolysis skos:exactMatch Orphanet:308459 semapv:UnspecifiedMatching +GARD:21307 Disorder of fructose metabolism skos:exactMatch Orphanet:308463 semapv:UnspecifiedMatching +GARD:21308 Disorder of galactose metabolism skos:exactMatch Orphanet:308467 semapv:UnspecifiedMatching +GARD:21309 Glycogen storage disease due to glycogen synthase deficiency skos:exactMatch Orphanet:308520 semapv:UnspecifiedMatching +GARD:21310 Glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch Orphanet:308552 semapv:UnspecifiedMatching +GARD:21311 Glycerol kinase deficiency skos:exactMatch Orphanet:308993 semapv:UnspecifiedMatching +GARD:21312 Disorder of glyoxylate metabolism skos:exactMatch Orphanet:308998 semapv:UnspecifiedMatching +GARD:21313 Disorder of carbohydrate absorption and transport skos:exactMatch Orphanet:309001 semapv:UnspecifiedMatching +GARD:21314 Disorder of lipid metabolism skos:exactMatch Orphanet:309005 semapv:UnspecifiedMatching +GARD:21315 Mevalonate kinase deficiency skos:exactMatch Orphanet:309025 semapv:UnspecifiedMatching +GARD:21316 Disorder of lipid absorption and transport skos:exactMatch Orphanet:309028 semapv:UnspecifiedMatching +GARD:21317 Disorder of fatty acid oxidation and ketogenesis skos:exactMatch Orphanet:309115 semapv:UnspecifiedMatching +GARD:21318 Acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:309120 semapv:UnspecifiedMatching +GARD:21319 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:309127 semapv:UnspecifiedMatching +GARD:21320 Disorder of carnitine cycle and carnitine transport skos:exactMatch Orphanet:309130 semapv:UnspecifiedMatching +GARD:21321 Metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 semapv:UnspecifiedMatching +GARD:21322 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 semapv:UnspecifiedMatching +GARD:21323 GM2 gangliosidosis skos:exactMatch Orphanet:309152 semapv:UnspecifiedMatching +GARD:21324 Tay-Sachs disease, B variant, infantile form skos:exactMatch Orphanet:309178 semapv:UnspecifiedMatching +GARD:21325 Tay-Sachs disease, B variant, juvenile form skos:exactMatch Orphanet:309185 semapv:UnspecifiedMatching +GARD:21326 Tay-Sachs disease, B variant, adult form skos:exactMatch Orphanet:309192 semapv:UnspecifiedMatching +GARD:21327 Tay-Sachs disease, B1 variant skos:exactMatch Orphanet:309239 semapv:UnspecifiedMatching +GARD:21328 Metachromatic leukodystrophy, late infantile form skos:exactMatch Orphanet:309256 semapv:UnspecifiedMatching +GARD:21329 Metachromatic leukodystrophy, juvenile form skos:exactMatch Orphanet:309263 semapv:UnspecifiedMatching +GARD:21330 Metachromatic leukodystrophy, adult form skos:exactMatch Orphanet:309271 semapv:UnspecifiedMatching +GARD:21331 Sialidosis skos:exactMatch Orphanet:309294 semapv:UnspecifiedMatching +GARD:21332 Disorder of sialic acid metabolism skos:exactMatch Orphanet:309319 semapv:UnspecifiedMatching +GARD:21333 Lysosomal glycogen storage disease skos:exactMatch Orphanet:309337 semapv:UnspecifiedMatching +GARD:21334 Disorder of lysosomal-related organelles skos:exactMatch Orphanet:309340 semapv:UnspecifiedMatching +GARD:21335 Disorder of protein N-glycosylation skos:exactMatch Orphanet:309347 semapv:UnspecifiedMatching +GARD:21336 Disorder of protein O-glycosylation skos:exactMatch Orphanet:309447 semapv:UnspecifiedMatching +GARD:21337 Disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 semapv:UnspecifiedMatching +GARD:21338 Disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 semapv:UnspecifiedMatching +GARD:21339 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 semapv:UnspecifiedMatching +GARD:21340 Disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 semapv:UnspecifiedMatching +GARD:21341 Disorder of fucoglycosan synthesis skos:exactMatch Orphanet:309505 semapv:UnspecifiedMatching +GARD:21342 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:exactMatch Orphanet:309515 semapv:UnspecifiedMatching +GARD:21343 Disorder of multiple glycosylation skos:exactMatch Orphanet:309526 semapv:UnspecifiedMatching +GARD:21344 Defect in conserved oligomeric Golgi complex skos:exactMatch Orphanet:309568 semapv:UnspecifiedMatching +GARD:21345 Defect in V-ATPase skos:exactMatch Orphanet:309778 semapv:UnspecifiedMatching +GARD:21346 Disorder of porphyrin and heme metabolism skos:exactMatch Orphanet:309813 semapv:UnspecifiedMatching +GARD:21347 Disorder of bilirubin metabolism and excretion skos:exactMatch Orphanet:309816 semapv:UnspecifiedMatching +GARD:21348 Disorder of pterin metabolism skos:exactMatch Orphanet:309819 semapv:UnspecifiedMatching +GARD:21349 Disorder of metabolite absorption and transport skos:exactMatch Orphanet:309824 semapv:UnspecifiedMatching +GARD:21350 Disorder of vitamin and non-protein cofactor absorption and transport skos:exactMatch Orphanet:309827 semapv:UnspecifiedMatching +GARD:21351 Disorder of catecholamine synthesis skos:exactMatch Orphanet:309830 semapv:UnspecifiedMatching +GARD:21352 Disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 semapv:UnspecifiedMatching +GARD:21353 Disorder of mineral absorption and transport skos:exactMatch Orphanet:309836 semapv:UnspecifiedMatching +GARD:21354 Disorder of copper metabolism skos:exactMatch Orphanet:309839 semapv:UnspecifiedMatching +GARD:21355 Disorder of iron metabolism and transport skos:exactMatch Orphanet:309842 semapv:UnspecifiedMatching +GARD:21356 Disorder of zinc metabolism and transport skos:exactMatch Orphanet:309845 semapv:UnspecifiedMatching +GARD:21357 Disorder of magnesium transport skos:exactMatch Orphanet:309848 semapv:UnspecifiedMatching +GARD:21358 Disorder of manganese transport skos:exactMatch Orphanet:309851 semapv:UnspecifiedMatching +GARD:21359 Acquired immunodeficiency skos:exactMatch Orphanet:310050 semapv:UnspecifiedMatching +GARD:21360 20p13 microdeletion syndrome skos:exactMatch Orphanet:313781 semapv:UnspecifiedMatching +GARD:21361 Congenital pancreatic cyst skos:exactMatch Orphanet:313906 semapv:UnspecifiedMatching +GARD:21362 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch Orphanet:313920 semapv:UnspecifiedMatching +GARD:21363 2q23.1 microduplication syndrome skos:exactMatch Orphanet:313947 semapv:UnspecifiedMatching +GARD:21364 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome skos:exactMatch Orphanet:314002 semapv:UnspecifiedMatching +GARD:21365 Idiopathic linear interstitial keratitis skos:exactMatch Orphanet:314017 semapv:UnspecifiedMatching +GARD:21366 High bone mass osteogenesis imperfecta skos:exactMatch Orphanet:314029 semapv:UnspecifiedMatching +GARD:21367 7p22.1 microduplication syndrome skos:exactMatch Orphanet:314034 semapv:UnspecifiedMatching +GARD:21368 Marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:exactMatch Orphanet:314041 semapv:UnspecifiedMatching +GARD:21369 Xq12-q13.3 duplication syndrome skos:exactMatch Orphanet:314389 semapv:UnspecifiedMatching +GARD:2137 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch Orphanet:257 semapv:UnspecifiedMatching +GARD:2137 Epidermolysis bullosa simplex with muscular dystrophy skos:narrowMatch OMIM:226670 semapv:UnspecifiedMatching +GARD:21370 Rare odontogenic tumor skos:exactMatch Orphanet:314425 semapv:UnspecifiedMatching +GARD:21371 Spigelian hernia-cryptorchidism syndrome skos:exactMatch Orphanet:314432 semapv:UnspecifiedMatching +GARD:21372 Meigs syndrome skos:exactMatch Orphanet:314451 semapv:UnspecifiedMatching +GARD:21373 Pseudo-Meigs syndrome skos:exactMatch Orphanet:314459 semapv:UnspecifiedMatching +GARD:21374 Atypical Meigs syndrome skos:exactMatch Orphanet:314466 semapv:UnspecifiedMatching +GARD:21375 Ovarian fibroma skos:exactMatch Orphanet:314473 semapv:UnspecifiedMatching +GARD:21376 Ovarian fibrothecoma skos:exactMatch Orphanet:314478 semapv:UnspecifiedMatching +GARD:21377 Primary progressive apraxia of speech skos:exactMatch Orphanet:314566 semapv:UnspecifiedMatching +GARD:21378 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:exactMatch Orphanet:314572 semapv:UnspecifiedMatching +GARD:21379 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:exactMatch Orphanet:314575 semapv:UnspecifiedMatching +GARD:21380 Growing teratoma syndrome skos:exactMatch Orphanet:314613 semapv:UnspecifiedMatching +GARD:21381 Duplication of the pituitary gland skos:exactMatch Orphanet:314621 semapv:UnspecifiedMatching +GARD:21382 Variant ABeta2M amyloidosis skos:exactMatch Orphanet:314652 semapv:UnspecifiedMatching +GARD:21383 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:exactMatch Orphanet:314655 semapv:UnspecifiedMatching +GARD:21384 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:exactMatch Orphanet:314662 semapv:UnspecifiedMatching +GARD:21385 Primary bone lymphoma skos:exactMatch Orphanet:314684 semapv:UnspecifiedMatching +GARD:21386 Acquired porencephaly skos:exactMatch Orphanet:314697 semapv:UnspecifiedMatching +GARD:21387 Primary localized amyloidosis skos:exactMatch Orphanet:314709 semapv:UnspecifiedMatching +GARD:21388 Rare disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 semapv:UnspecifiedMatching +GARD:21389 Functioning pituitary adenoma skos:exactMatch Orphanet:314753 semapv:UnspecifiedMatching +GARD:2139 Autosomal dominant generalized dystrophic epidermolysis bullosa skos:exactMatch Orphanet:231568 semapv:UnspecifiedMatching +GARD:2139 Autosomal dominant generalized dystrophic epidermolysis bullosa skos:narrowMatch OMIM:131750 semapv:UnspecifiedMatching +GARD:21390 Mixed functioning pituitary adenoma skos:exactMatch Orphanet:314759 semapv:UnspecifiedMatching +GARD:21391 Somatomammotropinoma skos:exactMatch Orphanet:314769 semapv:UnspecifiedMatching +GARD:21392 Silent pituitary adenoma skos:exactMatch Orphanet:314786 semapv:UnspecifiedMatching +GARD:21393 Null pituitary adenoma skos:exactMatch Orphanet:314790 semapv:UnspecifiedMatching +GARD:21394 Autosomal dominant proximal renal tubular acidosis skos:exactMatch Orphanet:314889 semapv:UnspecifiedMatching +GARD:21395 Primary hypereosinophilic syndrome skos:exactMatch Orphanet:314950 semapv:UnspecifiedMatching +GARD:21396 Secondary hypereosinophilic syndrome skos:exactMatch Orphanet:314962 semapv:UnspecifiedMatching +GARD:21397 Lymphocytic hypereosinophilic syndrome skos:exactMatch Orphanet:314970 semapv:UnspecifiedMatching +GARD:21398 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:exactMatch Orphanet:315306 semapv:UnspecifiedMatching +GARD:21399 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:exactMatch Orphanet:315311 semapv:UnspecifiedMatching +GARD:21400 Autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 semapv:UnspecifiedMatching +GARD:21401 Spastic ataxia skos:exactMatch Orphanet:316226 semapv:UnspecifiedMatching +GARD:21402 Autosomal dominant spastic ataxia skos:exactMatch Orphanet:316235 semapv:UnspecifiedMatching +GARD:21403 Autosomal recessive spastic ataxia skos:exactMatch Orphanet:316240 semapv:UnspecifiedMatching +GARD:21404 Partial deletion of the short arm of chromosome 12 skos:exactMatch Orphanet:316244 semapv:UnspecifiedMatching +GARD:21405 T-B+ severe combined immunodeficiency skos:exactMatch Orphanet:317416 semapv:UnspecifiedMatching +GARD:21406 T-B- severe combined immunodeficiency skos:exactMatch Orphanet:317419 semapv:UnspecifiedMatching +GARD:21407 Diencephalic-mesencephalic junction dysplasia skos:exactMatch Orphanet:319192 semapv:UnspecifiedMatching +GARD:21408 Chondroectodermal dysplasia with night blindness skos:exactMatch Orphanet:319195 semapv:UnspecifiedMatching +GARD:21409 Bilateral massive adrenal hemorrhage skos:exactMatch Orphanet:319205 semapv:UnspecifiedMatching +GARD:2141 Autosomal dominant generalized epidermolysis bullosa simplex, severe form skos:exactMatch Orphanet:79396 semapv:UnspecifiedMatching +GARD:2141 Autosomal dominant generalized epidermolysis bullosa simplex, severe form skos:narrowMatch OMIM:131760 semapv:UnspecifiedMatching +GARD:21410 Lujo hemorrhagic fever skos:exactMatch Orphanet:319213 semapv:UnspecifiedMatching +GARD:21411 Argentine hemorrhagic fever skos:exactMatch Orphanet:319223 semapv:UnspecifiedMatching +GARD:21412 Bolivian hemorrhagic fever skos:exactMatch Orphanet:319229 semapv:UnspecifiedMatching +GARD:21413 Venezuelan hemorrhagic fever skos:exactMatch Orphanet:319234 semapv:UnspecifiedMatching +GARD:21414 Brazilian hemorrhagic fever skos:exactMatch Orphanet:319239 semapv:UnspecifiedMatching +GARD:21415 Chapare hemorrhagic fever skos:exactMatch Orphanet:319244 semapv:UnspecifiedMatching +GARD:21416 Rift valley fever skos:exactMatch Orphanet:319251 semapv:UnspecifiedMatching +GARD:21417 Multilocular cystic renal neoplasm of low malignant potential skos:exactMatch Orphanet:319287 semapv:UnspecifiedMatching +GARD:21418 Mucinous tubular and spindle cell renal carcinoma skos:exactMatch Orphanet:319322 semapv:UnspecifiedMatching +GARD:21419 Tubulocystic renal cell carcinoma skos:exactMatch Orphanet:319325 semapv:UnspecifiedMatching +GARD:21420 Inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 semapv:UnspecifiedMatching +GARD:21421 Familial nonmedullary thyroid carcinoma skos:exactMatch Orphanet:319494 semapv:UnspecifiedMatching +GARD:21422 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 semapv:UnspecifiedMatching +GARD:21423 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 semapv:UnspecifiedMatching +GARD:21424 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 semapv:UnspecifiedMatching +GARD:21425 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch Orphanet:319589 semapv:UnspecifiedMatching +GARD:21426 Primary lymphoma of the conjunctiva skos:exactMatch Orphanet:319667 semapv:UnspecifiedMatching +GARD:21427 Autoinflammatory syndrome of childhood skos:exactMatch Orphanet:319719 semapv:UnspecifiedMatching +GARD:21428 X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 semapv:UnspecifiedMatching +GARD:21429 Pure or complex hereditary spastic paraplegia skos:exactMatch Orphanet:320335 semapv:UnspecifiedMatching +GARD:2143 Junctional epidermolysis bullosa inversa skos:exactMatch Orphanet:79405 semapv:UnspecifiedMatching +GARD:2143 Junctional epidermolysis bullosa inversa skos:narrowMatch OMIM:226650 semapv:UnspecifiedMatching +GARD:21430 Pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 semapv:UnspecifiedMatching +GARD:21431 Pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 semapv:UnspecifiedMatching +GARD:21432 Pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 semapv:UnspecifiedMatching +GARD:21433 MT-ATP6-related mitochondrial spastic paraplegia skos:exactMatch Orphanet:320360 semapv:UnspecifiedMatching +GARD:21434 Genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 semapv:UnspecifiedMatching +GARD:21435 Multiple paragangliomas associated with polycythemia skos:exactMatch Orphanet:324299 semapv:UnspecifiedMatching +GARD:21436 Severe lateral tibial bowing with short stature skos:exactMatch Orphanet:324307 semapv:UnspecifiedMatching +GARD:21437 9p13 microdeletion syndrome skos:exactMatch Orphanet:324313 semapv:UnspecifiedMatching +GARD:21438 Congenital achiasma skos:exactMatch Orphanet:324353 semapv:UnspecifiedMatching +GARD:21439 Mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:exactMatch Orphanet:324364 semapv:UnspecifiedMatching +GARD:21440 Hereditary inclusion body myopathy type 4 skos:exactMatch Orphanet:324381 semapv:UnspecifiedMatching +GARD:21441 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:exactMatch Orphanet:324416 semapv:UnspecifiedMatching +GARD:21442 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation skos:exactMatch Orphanet:324525 semapv:UnspecifiedMatching +GARD:21443 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:exactMatch Orphanet:324540 semapv:UnspecifiedMatching +GARD:21444 Hyperinsulinism due to HNF1A deficiency skos:exactMatch Orphanet:324575 semapv:UnspecifiedMatching +GARD:21445 Benign Samaritan congenital myopathy skos:exactMatch Orphanet:324581 semapv:UnspecifiedMatching +GARD:21446 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:exactMatch Orphanet:324585 semapv:UnspecifiedMatching +GARD:21447 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:exactMatch Orphanet:324611 semapv:UnspecifiedMatching +GARD:21448 Hendra virus infection skos:exactMatch Orphanet:324632 semapv:UnspecifiedMatching +GARD:21449 Invasive non-typhoidal salmonellosis skos:exactMatch Orphanet:324648 semapv:UnspecifiedMatching +GARD:21450 Microcephalic primordial dwarfism skos:exactMatch Orphanet:324761 semapv:UnspecifiedMatching +GARD:21451 Trichorhinophalangeal syndrome skos:exactMatch Orphanet:324764 semapv:UnspecifiedMatching +GARD:21452 Non-familial rare disease with dilated cardiomyopathy skos:exactMatch Orphanet:324767 semapv:UnspecifiedMatching +GARD:21453 Hereditary periodic fever syndrome skos:exactMatch Orphanet:324924 semapv:UnspecifiedMatching +GARD:21454 Pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 semapv:UnspecifiedMatching +GARD:21455 Granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 semapv:UnspecifiedMatching +GARD:21456 Mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 semapv:UnspecifiedMatching +GARD:21457 Unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 semapv:UnspecifiedMatching +GARD:21458 Periodic fever syndrome of childhood skos:exactMatch Orphanet:324939 semapv:UnspecifiedMatching +GARD:21459 Pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 semapv:UnspecifiedMatching +GARD:2146 Localized epidermolysis bullosa simplex skos:exactMatch Orphanet:79400 semapv:UnspecifiedMatching +GARD:2146 Localized epidermolysis bullosa simplex skos:narrowMatch OMIM:131800 semapv:UnspecifiedMatching +GARD:21460 Granulomatous autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324950 semapv:UnspecifiedMatching +GARD:21461 Unclassified autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324953 semapv:UnspecifiedMatching +GARD:21462 Unexplained periodic fever syndrome of childhood skos:exactMatch Orphanet:324960 semapv:UnspecifiedMatching +GARD:21463 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 semapv:UnspecifiedMatching +GARD:21464 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 semapv:UnspecifiedMatching +GARD:21465 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 semapv:UnspecifiedMatching +GARD:21466 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 semapv:UnspecifiedMatching +GARD:21467 Syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 semapv:UnspecifiedMatching +GARD:21468 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 semapv:UnspecifiedMatching +GARD:21469 46,XY ovotesticular disorder of sex development skos:exactMatch Orphanet:325345 semapv:UnspecifiedMatching +GARD:2147 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form skos:exactMatch Orphanet:79399 semapv:UnspecifiedMatching +GARD:2147 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form skos:narrowMatch OMIM:131900 semapv:UnspecifiedMatching +GARD:21470 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 semapv:UnspecifiedMatching +GARD:21471 46,XY disorder of sex development due to impaired androgen production skos:exactMatch Orphanet:325357 semapv:UnspecifiedMatching +GARD:21472 46,XY disorder of sex development due to a cholesterol synthesis defect skos:exactMatch Orphanet:325511 semapv:UnspecifiedMatching +GARD:21473 Classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:325524 semapv:UnspecifiedMatching +GARD:21474 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:325529 semapv:UnspecifiedMatching +GARD:21475 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors skos:exactMatch Orphanet:325537 semapv:UnspecifiedMatching +GARD:21476 Sex chromosome disorder of sex development skos:exactMatch Orphanet:325546 semapv:UnspecifiedMatching +GARD:21477 Disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 semapv:UnspecifiedMatching +GARD:21478 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 semapv:UnspecifiedMatching +GARD:21479 Syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 semapv:UnspecifiedMatching +GARD:2148 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:79401 semapv:UnspecifiedMatching +GARD:2148 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement skos:narrowMatch OMIM:131950 semapv:UnspecifiedMatching +GARD:21480 Genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 semapv:UnspecifiedMatching +GARD:21481 Genetic disorder of sex development skos:exactMatch Orphanet:325690 semapv:UnspecifiedMatching +GARD:21482 Genetic 46,XX disorder of sex development skos:exactMatch Orphanet:325697 semapv:UnspecifiedMatching +GARD:21483 Genetic 46,XY disorder of sex development skos:exactMatch Orphanet:325706 semapv:UnspecifiedMatching +GARD:21484 Genetic 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325713 semapv:UnspecifiedMatching +GARD:21485 Cerebral sinovenous thrombosis skos:exactMatch Orphanet:329217 semapv:UnspecifiedMatching +GARD:21486 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:exactMatch Orphanet:329249 semapv:UnspecifiedMatching +GARD:21487 Thrombocythemia with distal limb defects skos:exactMatch Orphanet:329319 semapv:UnspecifiedMatching +GARD:21488 Inverse Klippel-Trénaunay syndrome skos:exactMatch Orphanet:329324 semapv:UnspecifiedMatching +GARD:21489 Autosomal recessive frontotemporal pachygyria skos:exactMatch Orphanet:329329 semapv:UnspecifiedMatching +GARD:21490 Acute megakaryoblastic leukemia without Down syndrome skos:exactMatch Orphanet:329469 semapv:UnspecifiedMatching +GARD:21491 Spastic paraplegia-Paget disease of bone syndrome skos:exactMatch Orphanet:329475 semapv:UnspecifiedMatching +GARD:21492 Adult-onset distal myopathy due to VCP mutation skos:exactMatch Orphanet:329478 semapv:UnspecifiedMatching +GARD:21493 Mosaic genome-wide paternal uniparental disomy skos:exactMatch Orphanet:329813 semapv:UnspecifiedMatching +GARD:21494 Idiopathic giant cell myocarditis skos:exactMatch Orphanet:329874 semapv:UnspecifiedMatching +GARD:21495 Non-hypoproteinemic hypertrophic gastropathy skos:exactMatch Orphanet:329883 semapv:UnspecifiedMatching +GARD:21496 Juvenile idiopathic inflammatory myopathy skos:exactMatch Orphanet:329888 semapv:UnspecifiedMatching +GARD:21497 Juvenile overlap myositis skos:exactMatch Orphanet:329894 semapv:UnspecifiedMatching +GARD:21498 Transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:329942 semapv:UnspecifiedMatching +GARD:21499 Intermittent hydrarthrosis skos:exactMatch Orphanet:329967 semapv:UnspecifiedMatching +GARD:215 Familial caudal dysgenesis skos:exactMatch Orphanet:1768 semapv:UnspecifiedMatching +GARD:2150 Dystrophic epidermolysis bullosa skos:exactMatch Orphanet:303 semapv:UnspecifiedMatching +GARD:21500 Classic neuroendocrine tumor of appendix skos:exactMatch Orphanet:329977 semapv:UnspecifiedMatching +GARD:21501 Wild type ATTR amyloidosis skos:exactMatch Orphanet:330001 semapv:UnspecifiedMatching +GARD:21502 High altitude pulmonary edema skos:exactMatch Orphanet:330012 semapv:UnspecifiedMatching +GARD:21503 Lead poisoning skos:exactMatch Orphanet:330015 semapv:UnspecifiedMatching +GARD:21504 Hypotrichosis-deafness syndrome skos:exactMatch Orphanet:330029 semapv:UnspecifiedMatching +GARD:21505 Hemoglobin Lepore-beta-thalassemia syndrome skos:exactMatch Orphanet:330032 semapv:UnspecifiedMatching +GARD:21506 Chronic actinic dermatitis skos:exactMatch Orphanet:330064 semapv:UnspecifiedMatching +GARD:21507 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 semapv:UnspecifiedMatching +GARD:21508 Constitutional neutropenia with extra-hematopoietic manifestations skos:exactMatch Orphanet:331184 semapv:UnspecifiedMatching +GARD:21509 Other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 semapv:UnspecifiedMatching +GARD:21510 Syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 semapv:UnspecifiedMatching +GARD:21511 Immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 semapv:UnspecifiedMatching +GARD:21512 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 semapv:UnspecifiedMatching +GARD:21513 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells skos:exactMatch Orphanet:331240 semapv:UnspecifiedMatching +GARD:21514 Other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 semapv:UnspecifiedMatching +GARD:21515 Immunodeficiency syndrome with hypopigmentation skos:exactMatch Orphanet:331249 semapv:UnspecifiedMatching +GARD:21516 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:exactMatch Orphanet:352301 semapv:UnspecifiedMatching +GARD:21517 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 semapv:UnspecifiedMatching +GARD:21518 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 semapv:UnspecifiedMatching +GARD:21519 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 semapv:UnspecifiedMatching +GARD:2152 Junctional epidermolysis bullosa skos:exactMatch Orphanet:305 semapv:UnspecifiedMatching +GARD:21520 Mitochondrial DNA maintenance syndrome skos:exactMatch Orphanet:352456 semapv:UnspecifiedMatching +GARD:21521 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:exactMatch Orphanet:352530 semapv:UnspecifiedMatching +GARD:21522 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:exactMatch Orphanet:352587 semapv:UnspecifiedMatching +GARD:21523 16q24.1 microdeletion syndrome skos:exactMatch Orphanet:352629 semapv:UnspecifiedMatching +GARD:21524 Phalangeal microgeodic syndrome skos:exactMatch Orphanet:352636 semapv:UnspecifiedMatching +GARD:21525 Autosomal recessive cerebellar ataxia with late-onset spasticity skos:exactMatch Orphanet:352641 semapv:UnspecifiedMatching +GARD:21526 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion skos:exactMatch Orphanet:352665 semapv:UnspecifiedMatching +GARD:21527 Attenuated Chédiak-Higashi syndrome skos:exactMatch Orphanet:352723 semapv:UnspecifiedMatching +GARD:21528 Disorder of melanin metabolism skos:exactMatch Orphanet:352728 semapv:UnspecifiedMatching +GARD:21529 Minimal pigment oculocutaneous albinism type 1 skos:exactMatch Orphanet:352734 semapv:UnspecifiedMatching +GARD:2153 Severe generalized junctional epidermolysis bullosa skos:exactMatch Orphanet:79404 semapv:UnspecifiedMatching +GARD:2153 Severe generalized junctional epidermolysis bullosa skos:narrowMatch OMIM:226700 semapv:UnspecifiedMatching +GARD:21530 Congenital retinal arteriovenous communication skos:exactMatch Orphanet:353334 semapv:UnspecifiedMatching +GARD:21531 Idiopathic macular telangiectasia type 1 skos:exactMatch Orphanet:353344 semapv:UnspecifiedMatching +GARD:21532 Idiopathic macular telangiectasia type 3 skos:exactMatch Orphanet:353351 semapv:UnspecifiedMatching +GARD:21533 Vasoproliferative tumor of the retina skos:exactMatch Orphanet:353356 semapv:UnspecifiedMatching +GARD:21534 3q26q27 microdeletion syndrome skos:exactMatch Orphanet:356947 semapv:UnspecifiedMatching +GARD:21535 Arterial thoracic outlet syndrome skos:exactMatch Orphanet:357107 semapv:UnspecifiedMatching +GARD:21536 Venous thoracic outlet syndrome skos:exactMatch Orphanet:357131 semapv:UnspecifiedMatching +GARD:21537 Primary essential cutis verticis gyrata skos:exactMatch Orphanet:357220 semapv:UnspecifiedMatching +GARD:21538 Primary non-essential cutis verticis gyrata skos:exactMatch Orphanet:357225 semapv:UnspecifiedMatching +GARD:21539 Idiopathic nephrotic syndrome skos:exactMatch Orphanet:357502 semapv:UnspecifiedMatching +GARD:21540 Genetic non-syndromic renal or urinary tract malformation skos:exactMatch Orphanet:357506 semapv:UnspecifiedMatching +GARD:21541 Congenital anomaly of the great veins skos:exactMatch Orphanet:363189 semapv:UnspecifiedMatching +GARD:21542 Ring chromosome skos:exactMatch Orphanet:363203 semapv:UnspecifiedMatching +GARD:21543 Genetic progeroid syndrome skos:exactMatch Orphanet:363245 semapv:UnspecifiedMatching +GARD:21544 Ciliopathy skos:exactMatch Orphanet:363250 semapv:UnspecifiedMatching +GARD:21545 Genetic syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 semapv:UnspecifiedMatching +GARD:21546 Genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 semapv:UnspecifiedMatching +GARD:21547 Genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 semapv:UnspecifiedMatching +GARD:21548 Genetic intestinal polyposis skos:exactMatch Orphanet:363314 semapv:UnspecifiedMatching +GARD:21549 Tumor of testis and paratestis skos:exactMatch Orphanet:363472 semapv:UnspecifiedMatching +GARD:2155 Localized dystrophic epidermolysis bullosa, pretibial form skos:exactMatch Orphanet:79410 semapv:UnspecifiedMatching +GARD:2155 Localized dystrophic epidermolysis bullosa, pretibial form skos:narrowMatch OMIM:131850 semapv:UnspecifiedMatching +GARD:21550 Paratesticular adenocarcinoma skos:exactMatch Orphanet:363478 semapv:UnspecifiedMatching +GARD:21551 Sex cord-stromal tumor of testis skos:exactMatch Orphanet:363489 semapv:UnspecifiedMatching +GARD:21552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch Orphanet:363549 semapv:UnspecifiedMatching +GARD:21553 Acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 semapv:UnspecifiedMatching +GARD:21554 Gonadal germ cell tumor skos:exactMatch Orphanet:363582 semapv:UnspecifiedMatching +GARD:21555 LMNA-related cardiocutaneous progeria syndrome skos:exactMatch Orphanet:363618 semapv:UnspecifiedMatching +GARD:21556 20q11.2 microduplication syndrome skos:exactMatch Orphanet:363659 semapv:UnspecifiedMatching +GARD:21557 2p13.2 microdeletion syndrome skos:exactMatch Orphanet:363680 semapv:UnspecifiedMatching +GARD:21558 Balint syndrome skos:exactMatch Orphanet:363746 semapv:UnspecifiedMatching +GARD:21559 Koolen-De Vries syndrome due to a point mutation skos:exactMatch Orphanet:363965 semapv:UnspecifiedMatching +GARD:21560 Autosomal recessive cerebral atrophy skos:exactMatch Orphanet:363969 semapv:UnspecifiedMatching +GARD:21561 Immune hydrops fetalis skos:exactMatch Orphanet:364013 semapv:UnspecifiedMatching +GARD:21562 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch Orphanet:364033 semapv:UnspecifiedMatching +GARD:21563 Hydroa vacciniforme-like lymphoma skos:exactMatch Orphanet:364039 semapv:UnspecifiedMatching +GARD:21564 ALK-positive large B-cell lymphoma skos:exactMatch Orphanet:364043 semapv:UnspecifiedMatching +GARD:21565 Severe early-childhood-onset retinal dystrophy skos:exactMatch Orphanet:364055 semapv:UnspecifiedMatching +GARD:21566 Bipartite talus skos:exactMatch Orphanet:364198 semapv:UnspecifiedMatching +GARD:21567 Primary bone dysplasia skos:exactMatch Orphanet:364526 semapv:UnspecifiedMatching +GARD:21568 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 semapv:UnspecifiedMatching +GARD:21569 Primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 semapv:UnspecifiedMatching +GARD:21570 Otopalatodigital syndrome spectrum disorder skos:exactMatch Orphanet:364541 semapv:UnspecifiedMatching +GARD:21571 Dysostosis skos:exactMatch Orphanet:364559 semapv:UnspecifiedMatching +GARD:21572 Dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 semapv:UnspecifiedMatching +GARD:21573 Dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 semapv:UnspecifiedMatching +GARD:21574 Acrofacial dysostosis skos:exactMatch Orphanet:364574 semapv:UnspecifiedMatching +GARD:21575 Rare bone disease related to a common gene or pathway defect skos:exactMatch Orphanet:364803 semapv:UnspecifiedMatching +GARD:21576 Aggrecan-related bone disorder skos:exactMatch Orphanet:364817 semapv:UnspecifiedMatching +GARD:21577 TRPV4-related bone disorder skos:exactMatch Orphanet:364820 semapv:UnspecifiedMatching +GARD:21578 Primary short bowel syndrome skos:exactMatch Orphanet:365563 semapv:UnspecifiedMatching +GARD:21579 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:exactMatch Orphanet:369847 semapv:UnspecifiedMatching +GARD:21580 Obesity due to SIM1 deficiency skos:exactMatch Orphanet:369873 semapv:UnspecifiedMatching +GARD:21581 2p21 microdeletion syndrome without cystinuria skos:exactMatch Orphanet:369881 semapv:UnspecifiedMatching +GARD:21582 Homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 semapv:UnspecifiedMatching +GARD:21583 Intellectual disability-seizures-macrocephaly-obesity syndrome skos:exactMatch Orphanet:369950 semapv:UnspecifiedMatching +GARD:21584 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome skos:exactMatch Orphanet:369979 semapv:UnspecifiedMatching +GARD:21585 Intellectual disability-facial dysmorphism-hand anomalies syndrome skos:exactMatch Orphanet:370010 semapv:UnspecifiedMatching +GARD:21586 Spondyloepimetaphyseal dysplasia, Isidor type skos:exactMatch Orphanet:370015 semapv:UnspecifiedMatching +GARD:21587 Spondylometaphyseal dysplasia, Czarny-Ratajczak type skos:exactMatch Orphanet:370019 semapv:UnspecifiedMatching +GARD:21588 Acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch Orphanet:370026 semapv:UnspecifiedMatching +GARD:21589 Familial syringomyelia skos:exactMatch Orphanet:370034 semapv:UnspecifiedMatching +GARD:21590 Angora hair nevus skos:exactMatch Orphanet:370039 semapv:UnspecifiedMatching +GARD:21591 Didymosis aplasticosebacea skos:exactMatch Orphanet:370046 semapv:UnspecifiedMatching +GARD:21592 SCALP syndrome skos:exactMatch Orphanet:370052 semapv:UnspecifiedMatching +GARD:21593 NEVADA syndrome skos:exactMatch Orphanet:370059 semapv:UnspecifiedMatching +GARD:21594 Fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 semapv:UnspecifiedMatching +GARD:21595 Fetal carbamazepine syndrome skos:exactMatch Orphanet:370076 semapv:UnspecifiedMatching +GARD:21596 Rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 semapv:UnspecifiedMatching +GARD:21597 Ataxia-telangiectasia variant skos:exactMatch Orphanet:370109 semapv:UnspecifiedMatching +GARD:21598 Medich giant platelet syndrome skos:exactMatch Orphanet:370127 semapv:UnspecifiedMatching +GARD:21599 XYLT1-CDG skos:exactMatch Orphanet:370930 semapv:UnspecifiedMatching +GARD:216 Camptodactyly-joint contractures-facial skeletal defects syndrome skos:exactMatch Orphanet:1323 semapv:UnspecifiedMatching +GARD:216 Camptodactyly-joint contractures-facial skeletal defects syndrome skos:narrowMatch OMIM:602612 semapv:UnspecifiedMatching +GARD:21600 Congenital muscular dystrophy with hyperlaxity skos:exactMatch Orphanet:371007 semapv:UnspecifiedMatching +GARD:21601 Qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371024 semapv:UnspecifiedMatching +GARD:21602 Primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 semapv:UnspecifiedMatching +GARD:21603 Congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 semapv:UnspecifiedMatching +GARD:21604 Congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 semapv:UnspecifiedMatching +GARD:21605 Congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 semapv:UnspecifiedMatching +GARD:21606 Congenital disorder of glycosylation with dilated cardiomyopathy skos:exactMatch Orphanet:371176 semapv:UnspecifiedMatching +GARD:21607 Congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 semapv:UnspecifiedMatching +GARD:21608 Congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 semapv:UnspecifiedMatching +GARD:21609 Congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 semapv:UnspecifiedMatching +GARD:21610 Congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 semapv:UnspecifiedMatching +GARD:21611 Congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 semapv:UnspecifiedMatching +GARD:21612 Congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 semapv:UnspecifiedMatching +GARD:21613 Genetic periodic paralysis skos:exactMatch Orphanet:371433 semapv:UnspecifiedMatching +GARD:21614 Genetic neurovascular malformation skos:exactMatch Orphanet:371436 semapv:UnspecifiedMatching +GARD:21615 Sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 semapv:UnspecifiedMatching +GARD:21616 Genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 semapv:UnspecifiedMatching +GARD:21617 Genetic hyperaldosteronism skos:exactMatch Orphanet:371861 semapv:UnspecifiedMatching +GARD:21618 Generalized isolated dystonia skos:exactMatch Orphanet:376724 semapv:UnspecifiedMatching +GARD:21619 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:exactMatch Orphanet:391316 semapv:UnspecifiedMatching +GARD:2162 Juvenile absence epilepsy skos:exactMatch Orphanet:1941 semapv:UnspecifiedMatching +GARD:2162 Juvenile absence epilepsy skos:narrowMatch OMIM:607631 semapv:UnspecifiedMatching +GARD:21620 Fatal post-viral neurodegenerative disorder skos:exactMatch Orphanet:391343 semapv:UnspecifiedMatching +GARD:21621 Growth retardation-mild developmental delay-chronic hepatitis syndrome skos:exactMatch Orphanet:391366 semapv:UnspecifiedMatching +GARD:21622 Disorder of asparagine metabolism skos:exactMatch Orphanet:391381 semapv:UnspecifiedMatching +GARD:21623 Adult-onset myasthenia gravis skos:exactMatch Orphanet:391490 semapv:UnspecifiedMatching +GARD:21624 Juvenile myasthenia gravis skos:exactMatch Orphanet:391497 semapv:UnspecifiedMatching +GARD:21625 Transient neonatal myasthenia gravis skos:exactMatch Orphanet:391504 semapv:UnspecifiedMatching +GARD:21626 Glomus tumor skos:exactMatch Orphanet:391651 semapv:UnspecifiedMatching +GARD:21627 Off-periods in Parkinson disease not responding to oral treatment skos:exactMatch Orphanet:391655 semapv:UnspecifiedMatching +GARD:21628 Persistent combined dystonia skos:exactMatch Orphanet:391711 semapv:UnspecifiedMatching +GARD:21629 Mucinous adenocarcinoma of the appendix skos:exactMatch Orphanet:391723 semapv:UnspecifiedMatching +GARD:21630 Rare genetic dystonia skos:exactMatch Orphanet:391799 semapv:UnspecifiedMatching +GARD:21631 Deep dermatophytosis skos:exactMatch Orphanet:397587 semapv:UnspecifiedMatching +GARD:21632 PrP systemic amyloidosis skos:exactMatch Orphanet:397606 semapv:UnspecifiedMatching +GARD:21633 3q27.3 microdeletion syndrome skos:exactMatch Orphanet:397695 semapv:UnspecifiedMatching +GARD:21634 Periodic paralysis with later-onset distal motor neuropathy skos:exactMatch Orphanet:397750 semapv:UnspecifiedMatching +GARD:21635 Periodic paralysis with transient compartment-like syndrome skos:exactMatch Orphanet:397755 semapv:UnspecifiedMatching +GARD:21636 T+ B+ severe combined immunodeficiency skos:exactMatch Orphanet:397802 semapv:UnspecifiedMatching +GARD:21637 Ferro-cerebro-cutaneous syndrome skos:exactMatch Orphanet:397922 semapv:UnspecifiedMatching +GARD:21638 Adenocarcinoma of the penis skos:exactMatch Orphanet:398053 semapv:UnspecifiedMatching +GARD:21639 Squamous cell carcinoma of the penis skos:exactMatch Orphanet:398058 semapv:UnspecifiedMatching +GARD:21640 Refractory celiac disease skos:exactMatch Orphanet:398063 semapv:UnspecifiedMatching +GARD:21641 Prader-Willi-like syndrome skos:exactMatch Orphanet:398073 semapv:UnspecifiedMatching +GARD:21642 SIM1-related Prader-Willi-like syndrome skos:exactMatch Orphanet:398079 semapv:UnspecifiedMatching +GARD:21643 Secondary neonatal autoimmune disease skos:exactMatch Orphanet:398091 semapv:UnspecifiedMatching +GARD:21644 Neonatal antiphospholipid syndrome skos:exactMatch Orphanet:398097 semapv:UnspecifiedMatching +GARD:21645 Neonatal autoimmune hemolytic anemia skos:exactMatch Orphanet:398109 semapv:UnspecifiedMatching +GARD:21646 Neonatal dermatomyositis skos:exactMatch Orphanet:398117 semapv:UnspecifiedMatching +GARD:21647 Neonatal lupus erythematosus skos:exactMatch Orphanet:398124 semapv:UnspecifiedMatching +GARD:21648 Neonatal scleroderma skos:exactMatch Orphanet:398127 semapv:UnspecifiedMatching +GARD:21649 Persistent idiopathic facial pain skos:exactMatch Orphanet:398147 semapv:UnspecifiedMatching +GARD:21650 Malignant non-epithelial tumor of ovary skos:exactMatch Orphanet:398940 semapv:UnspecifiedMatching +GARD:21651 Mucinous adenocarcinoma of ovary skos:exactMatch Orphanet:398961 semapv:UnspecifiedMatching +GARD:21652 Clear cell adenocarcinoma of the ovary skos:exactMatch Orphanet:398971 semapv:UnspecifiedMatching +GARD:21653 Primary peritoneal serous/papillary carcinoma skos:exactMatch Orphanet:398980 semapv:UnspecifiedMatching +GARD:21654 Malignant teratoma of ovary skos:exactMatch Orphanet:398987 semapv:UnspecifiedMatching +GARD:21655 KLHL9-related early-onset distal myopathy skos:exactMatch Orphanet:399081 semapv:UnspecifiedMatching +GARD:21656 Distal nebulin myopathy skos:exactMatch Orphanet:399103 semapv:UnspecifiedMatching +GARD:21657 Osteonecrosis skos:exactMatch Orphanet:399158 semapv:UnspecifiedMatching +GARD:21658 Avascular necrosis skos:exactMatch Orphanet:399164 semapv:UnspecifiedMatching +GARD:21659 Secondary avascular necrosis skos:exactMatch Orphanet:399169 semapv:UnspecifiedMatching +GARD:2166 Celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch Orphanet:1459 semapv:UnspecifiedMatching +GARD:2166 Celiac disease-epilepsy-cerebral calcification syndrome skos:narrowMatch OMIM:226810 semapv:UnspecifiedMatching +GARD:21660 Traumatic avascular necrosis skos:exactMatch Orphanet:399175 semapv:UnspecifiedMatching +GARD:21661 Secondary non-traumatic avascular necrosis skos:exactMatch Orphanet:399180 semapv:UnspecifiedMatching +GARD:21662 Rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 semapv:UnspecifiedMatching +GARD:21663 Osteonecrosis of the jaw skos:exactMatch Orphanet:399293 semapv:UnspecifiedMatching +GARD:21664 Primary avascular necrosis skos:exactMatch Orphanet:399302 semapv:UnspecifiedMatching +GARD:21665 Idiopathic avascular necrosis skos:exactMatch Orphanet:399307 semapv:UnspecifiedMatching +GARD:21666 Epiphysiolysis of the hip skos:exactMatch Orphanet:399329 semapv:UnspecifiedMatching +GARD:21667 Osteonecrosis of genetic origin skos:exactMatch Orphanet:399380 semapv:UnspecifiedMatching +GARD:21668 Avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 semapv:UnspecifiedMatching +GARD:21669 Osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 semapv:UnspecifiedMatching +GARD:2167 Progressive myoclonic epilepsy type 3 skos:exactMatch Orphanet:263516 semapv:UnspecifiedMatching +GARD:2167 Progressive myoclonic epilepsy type 3 skos:narrowMatch OMIM:611726 semapv:UnspecifiedMatching +GARD:21670 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 semapv:UnspecifiedMatching +GARD:21671 Rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 semapv:UnspecifiedMatching +GARD:21672 Rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 semapv:UnspecifiedMatching +GARD:21673 Male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 semapv:UnspecifiedMatching +GARD:21674 Male infertility due to sperm disorder skos:exactMatch Orphanet:399771 semapv:UnspecifiedMatching +GARD:21675 Male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 semapv:UnspecifiedMatching +GARD:21676 Male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 semapv:UnspecifiedMatching +GARD:21677 Rare disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 semapv:UnspecifiedMatching +GARD:21678 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 semapv:UnspecifiedMatching +GARD:21679 Rare female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 semapv:UnspecifiedMatching +GARD:2168 Epilepsy-telangiectasia syndrome skos:exactMatch Orphanet:1951 semapv:UnspecifiedMatching +GARD:2168 Epilepsy-telangiectasia syndrome skos:narrowMatch OMIM:226850 semapv:UnspecifiedMatching +GARD:21680 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 semapv:UnspecifiedMatching +GARD:21681 Rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 semapv:UnspecifiedMatching +GARD:21682 Rare female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 semapv:UnspecifiedMatching +GARD:21683 Rare female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 semapv:UnspecifiedMatching +GARD:21684 Rare female infertility due to an implantation defect skos:exactMatch Orphanet:399882 semapv:UnspecifiedMatching +GARD:21685 Rare genetic male infertility skos:exactMatch Orphanet:399980 semapv:UnspecifiedMatching +GARD:21686 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 semapv:UnspecifiedMatching +GARD:21687 Rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 semapv:UnspecifiedMatching +GARD:21688 Male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 semapv:UnspecifiedMatching +GARD:21689 Rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 semapv:UnspecifiedMatching +GARD:2169 Myoclonic-astatic epilepsy skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching +GARD:2169 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:615369 semapv:UnspecifiedMatching +GARD:2169 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:616421 semapv:UnspecifiedMatching +GARD:2169 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:618587 semapv:UnspecifiedMatching +GARD:21690 Rare genetic female infertility skos:exactMatch Orphanet:400008 semapv:UnspecifiedMatching +GARD:21691 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 semapv:UnspecifiedMatching +GARD:21692 Rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 semapv:UnspecifiedMatching +GARD:21693 Rare female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 semapv:UnspecifiedMatching +GARD:21694 Female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 semapv:UnspecifiedMatching +GARD:21695 Autosomal recessive spastic paraplegia type 59 skos:exactMatch Orphanet:401795 semapv:UnspecifiedMatching +GARD:21696 Autosomal recessive spastic paraplegia type 60 skos:exactMatch Orphanet:401800 semapv:UnspecifiedMatching +GARD:21697 Autosomal recessive spastic paraplegia type 66 skos:exactMatch Orphanet:401815 semapv:UnspecifiedMatching +GARD:21698 Autosomal recessive spastic paraplegia type 67 skos:exactMatch Orphanet:401820 semapv:UnspecifiedMatching +GARD:21699 Autosomal recessive spastic paraplegia type 69 skos:exactMatch Orphanet:401830 semapv:UnspecifiedMatching +GARD:2170 Benign occipital epilepsy skos:exactMatch Orphanet:25968 semapv:UnspecifiedMatching +GARD:2170 Benign occipital epilepsy skos:narrowMatch OMIM:132090 semapv:UnspecifiedMatching +GARD:21700 Autosomal recessive spastic paraplegia type 70 skos:exactMatch Orphanet:401835 semapv:UnspecifiedMatching +GARD:21701 Autosomal recessive spastic paraplegia type 71 skos:exactMatch Orphanet:401840 semapv:UnspecifiedMatching +GARD:21702 Huntington disease-like syndrome due to C9ORF72 expansions skos:exactMatch Orphanet:401901 semapv:UnspecifiedMatching +GARD:21703 AXIN2-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:401911 semapv:UnspecifiedMatching +GARD:21704 Fibrolamellar hepatocellular carcinoma skos:exactMatch Orphanet:401920 semapv:UnspecifiedMatching +GARD:21705 9q31.1q31.3 microdeletion syndrome skos:exactMatch Orphanet:401923 semapv:UnspecifiedMatching +GARD:21706 14q24.1q24.3 microdeletion syndrome skos:exactMatch Orphanet:401935 semapv:UnspecifiedMatching +GARD:21707 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:exactMatch Orphanet:401959 semapv:UnspecifiedMatching +GARD:21708 Cold-induced sweating syndrome-hyperthermia spectrum skos:exactMatch Orphanet:401993 semapv:UnspecifiedMatching +GARD:21709 Lichen myxedematosus skos:exactMatch Orphanet:402007 semapv:UnspecifiedMatching +GARD:21710 Acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch Orphanet:402014 semapv:UnspecifiedMatching +GARD:21711 Acute myeloid leukemia with t(9;11)(p22;q23) skos:exactMatch Orphanet:402017 semapv:UnspecifiedMatching +GARD:21712 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:exactMatch Orphanet:402023 semapv:UnspecifiedMatching +GARD:21713 Acute myeloid leukemia with NPM1 somatic mutations skos:exactMatch Orphanet:402026 semapv:UnspecifiedMatching +GARD:21714 Primary eosinophilic gastrointestinal disease skos:exactMatch Orphanet:402029 semapv:UnspecifiedMatching +GARD:21715 Eosinophilic colitis skos:exactMatch Orphanet:402035 semapv:UnspecifiedMatching +GARD:21716 Hepatitis delta skos:exactMatch Orphanet:402823 semapv:UnspecifiedMatching +GARD:21717 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:exactMatch Orphanet:404451 semapv:UnspecifiedMatching +GARD:21718 Rare female infertility due to oocyte maturation defect skos:exactMatch Orphanet:404469 semapv:UnspecifiedMatching +GARD:21719 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome skos:exactMatch Orphanet:404481 semapv:UnspecifiedMatching +GARD:21720 Chondromyxoid fibroma skos:exactMatch Orphanet:404507 semapv:UnspecifiedMatching +GARD:21721 Clear cell papillary renal cell carcinoma skos:exactMatch Orphanet:404511 semapv:UnspecifiedMatching +GARD:21722 Acquired cystic disease-associated renal cell carcinoma skos:exactMatch Orphanet:404514 semapv:UnspecifiedMatching +GARD:21723 Spinal muscular atrophy with respiratory distress type 2 skos:exactMatch Orphanet:404521 semapv:UnspecifiedMatching +GARD:21724 X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 semapv:UnspecifiedMatching +GARD:21725 Dysostosis of genetic origin skos:exactMatch Orphanet:404568 semapv:UnspecifiedMatching +GARD:21726 Dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 semapv:UnspecifiedMatching +GARD:21727 Genetic syndrome with limb reduction defects skos:exactMatch Orphanet:404574 semapv:UnspecifiedMatching +GARD:21728 Genetic syndrome with limb malformations as a major feature skos:exactMatch Orphanet:404577 semapv:UnspecifiedMatching +GARD:21729 Polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:404580 semapv:UnspecifiedMatching +GARD:2173 Familial partial epilepsy skos:exactMatch Orphanet:309 semapv:UnspecifiedMatching +GARD:21730 Rare genetic bone development disorder skos:exactMatch Orphanet:404584 semapv:UnspecifiedMatching +GARD:21731 Williams-Campbell syndrome skos:exactMatch Orphanet:411501 semapv:UnspecifiedMatching +GARD:21732 Angelman syndrome due to a point mutation skos:exactMatch Orphanet:411511 semapv:UnspecifiedMatching +GARD:21733 Angelman syndrome due to imprinting defect in 15q11-q13 skos:exactMatch Orphanet:411515 semapv:UnspecifiedMatching +GARD:21734 Central retinal vein occlusion skos:exactMatch Orphanet:411527 semapv:UnspecifiedMatching +GARD:21735 Proton-pump inhibitor-responsive esophageal eosinophilia skos:exactMatch Orphanet:411696 semapv:UnspecifiedMatching +GARD:21736 Generalized eruptive keratoacanthoma skos:exactMatch Orphanet:411777 semapv:UnspecifiedMatching +GARD:21737 13q12.3 microdeletion syndrome skos:exactMatch Orphanet:412035 semapv:UnspecifiedMatching +GARD:21738 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:exactMatch Orphanet:412066 semapv:UnspecifiedMatching +GARD:21739 Dystonia-aphonia syndrome skos:exactMatch Orphanet:412217 semapv:UnspecifiedMatching +GARD:21740 Genetic facial cleft skos:exactMatch Orphanet:414726 semapv:UnspecifiedMatching +GARD:21741 Carcinoma of esophagus, salivary gland type skos:exactMatch Orphanet:418945 semapv:UnspecifiedMatching +GARD:21742 Undifferentiated carcinoma of esophagus skos:exactMatch Orphanet:418951 semapv:UnspecifiedMatching +GARD:21743 Squamous cell carcinoma of the stomach skos:exactMatch Orphanet:418959 semapv:UnspecifiedMatching +GARD:21744 Secondary pulmonary alveolar proteinosis skos:exactMatch Orphanet:420259 semapv:UnspecifiedMatching +GARD:21745 Semicircular canal dehiscence syndrome skos:exactMatch Orphanet:420402 semapv:UnspecifiedMatching +GARD:21746 Glycogen storage disease due to acid maltase deficiency, late-onset skos:exactMatch Orphanet:420429 semapv:UnspecifiedMatching +GARD:21747 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:exactMatch Orphanet:420699 semapv:UnspecifiedMatching +GARD:21748 Rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 semapv:UnspecifiedMatching +GARD:21749 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:exactMatch Orphanet:420789 semapv:UnspecifiedMatching +GARD:21750 Cono-spondylar dysplasia skos:exactMatch Orphanet:420794 semapv:UnspecifiedMatching +GARD:21751 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:423306 semapv:UnspecifiedMatching +GARD:21752 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:exactMatch Orphanet:423479 semapv:UnspecifiedMatching +GARD:21753 ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 semapv:UnspecifiedMatching +GARD:21754 Rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 semapv:UnspecifiedMatching +GARD:21755 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:exactMatch Orphanet:423693 semapv:UnspecifiedMatching +GARD:21756 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:exactMatch Orphanet:423712 semapv:UnspecifiedMatching +GARD:21757 Rare carcinoma of stomach skos:exactMatch Orphanet:423771 semapv:UnspecifiedMatching +GARD:21758 Hereditary gastric cancer skos:exactMatch Orphanet:423776 semapv:UnspecifiedMatching +GARD:21759 Undifferentiated carcinoma of stomach skos:exactMatch Orphanet:423786 semapv:UnspecifiedMatching +GARD:21760 Rare tumor of small intestine skos:exactMatch Orphanet:423793 semapv:UnspecifiedMatching +GARD:21761 Mesenchymal tumor of small intestine skos:exactMatch Orphanet:423798 semapv:UnspecifiedMatching +GARD:21762 Microcephaly-complex motor and sensory axonal neuropathy syndrome skos:exactMatch Orphanet:423894 semapv:UnspecifiedMatching +GARD:21763 Rare carcinoma of small intestine skos:exactMatch Orphanet:423957 semapv:UnspecifiedMatching +GARD:21764 Squamous cell carcinoma of the small intestine skos:exactMatch Orphanet:423968 semapv:UnspecifiedMatching +GARD:21765 Neuroendocrine tumor of the small intestine skos:exactMatch Orphanet:423975 semapv:UnspecifiedMatching +GARD:21766 Epithelial tumor of the appendix skos:exactMatch Orphanet:423982 semapv:UnspecifiedMatching +GARD:21767 Rare epithelial tumor of colon skos:exactMatch Orphanet:423991 semapv:UnspecifiedMatching +GARD:21768 Squamous cell carcinoma of the colon skos:exactMatch Orphanet:423994 semapv:UnspecifiedMatching +GARD:21769 Rare epithelial tumor of rectum skos:exactMatch Orphanet:423998 semapv:UnspecifiedMatching +GARD:21770 Squamous cell carcinoma of the rectum skos:exactMatch Orphanet:424002 semapv:UnspecifiedMatching +GARD:21771 Epithelial tumor of anal canal skos:exactMatch Orphanet:424010 semapv:UnspecifiedMatching +GARD:21772 Carcinoma of the anal canal skos:exactMatch Orphanet:424013 semapv:UnspecifiedMatching +GARD:21773 Adenocarcinoma of the anal canal skos:exactMatch Orphanet:424016 semapv:UnspecifiedMatching +GARD:21774 Squamous cell carcinoma of the anal canal skos:exactMatch Orphanet:424019 semapv:UnspecifiedMatching +GARD:21775 Rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 semapv:UnspecifiedMatching +GARD:21776 Squamous cell carcinoma of pancreas skos:exactMatch Orphanet:424039 semapv:UnspecifiedMatching +GARD:21777 Acinar cell carcinoma of pancreas skos:exactMatch Orphanet:424046 semapv:UnspecifiedMatching +GARD:21778 Mucinous cystadenocarcinoma of the pancreas skos:exactMatch Orphanet:424053 semapv:UnspecifiedMatching +GARD:21779 Intraductal papillary mucinous carcinoma of pancreas skos:exactMatch Orphanet:424058 semapv:UnspecifiedMatching +GARD:2178 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:exactMatch Orphanet:1825 semapv:UnspecifiedMatching +GARD:21780 Solid pseudopapillary carcinoma of pancreas skos:exactMatch Orphanet:424065 semapv:UnspecifiedMatching +GARD:21781 Serous cystadenocarcinoma of pancreas skos:exactMatch Orphanet:424073 semapv:UnspecifiedMatching +GARD:21782 Osteoclastic giant cell tumor of pancreas skos:exactMatch Orphanet:424080 semapv:UnspecifiedMatching +GARD:21783 Congenital myopathy with myasthenic-like onset skos:exactMatch Orphanet:424107 semapv:UnspecifiedMatching +GARD:21784 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 semapv:UnspecifiedMatching +GARD:21785 Rare malignant epithelial tumor of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424933 semapv:UnspecifiedMatching +GARD:21786 Carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424936 semapv:UnspecifiedMatching +GARD:21787 Adenocarcinoma of the liver and intrahepatic biliary tract skos:exactMatch Orphanet:424943 semapv:UnspecifiedMatching +GARD:21788 Undifferentiated carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424970 semapv:UnspecifiedMatching +GARD:21789 Squamous cell carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424975 semapv:UnspecifiedMatching +GARD:21790 Biliary cystadenocarcinoma skos:exactMatch Orphanet:424982 semapv:UnspecifiedMatching +GARD:21791 Adenocarcinoma of the gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424991 semapv:UnspecifiedMatching +GARD:21792 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424996 semapv:UnspecifiedMatching +GARD:21793 Inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 semapv:UnspecifiedMatching +GARD:21794 Rare epithelial tumor of small intestine skos:exactMatch Orphanet:425368 semapv:UnspecifiedMatching +GARD:21795 Primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 semapv:UnspecifiedMatching +GARD:21796 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 semapv:UnspecifiedMatching +GARD:21797 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 semapv:UnspecifiedMatching +GARD:21798 Patent urachus skos:exactMatch Orphanet:431341 semapv:UnspecifiedMatching +GARD:21799 Urachal sinus skos:exactMatch Orphanet:431344 semapv:UnspecifiedMatching +GARD:218 Rotor syndrome skos:exactMatch Orphanet:3111 semapv:UnspecifiedMatching +GARD:218 Rotor syndrome skos:narrowMatch OMIM:237450 semapv:UnspecifiedMatching +GARD:2180 Multiple epiphyseal dysplasia type 1 skos:exactMatch Orphanet:93308 semapv:UnspecifiedMatching +GARD:2180 Multiple epiphyseal dysplasia type 1 skos:narrowMatch OMIM:132400 semapv:UnspecifiedMatching +GARD:21800 Urachal diverticulum skos:exactMatch Orphanet:431347 semapv:UnspecifiedMatching +GARD:21801 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch Orphanet:431353 semapv:UnspecifiedMatching +GARD:21802 Rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 semapv:UnspecifiedMatching +GARD:21803 Syndrome with woolly hair skos:exactMatch Orphanet:434809 semapv:UnspecifiedMatching +GARD:21804 Fetal lower urinary tract obstruction skos:exactMatch Orphanet:435365 semapv:UnspecifiedMatching +GARD:21805 Anterior urethral valve skos:exactMatch Orphanet:435372 semapv:UnspecifiedMatching +GARD:21806 Genetic precocious puberty skos:exactMatch Orphanet:435554 semapv:UnspecifiedMatching +GARD:21807 Precocious puberty in female skos:exactMatch Orphanet:435561 semapv:UnspecifiedMatching +GARD:21808 Genetic precocious puberty in female skos:exactMatch Orphanet:435564 semapv:UnspecifiedMatching +GARD:21809 Genetic otorhinolaryngological malformation skos:exactMatch Orphanet:435603 semapv:UnspecifiedMatching +GARD:21810 Genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 semapv:UnspecifiedMatching +GARD:21811 Genetic larynx anomaly skos:exactMatch Orphanet:435609 semapv:UnspecifiedMatching +GARD:21812 Genetic tracheal anomaly skos:exactMatch Orphanet:435612 semapv:UnspecifiedMatching +GARD:21813 3p25.3 microdeletion syndrome skos:exactMatch Orphanet:435638 semapv:UnspecifiedMatching +GARD:21814 Congenital urachal anomaly skos:exactMatch Orphanet:435743 semapv:UnspecifiedMatching +GARD:21815 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:exactMatch Orphanet:435819 semapv:UnspecifiedMatching +GARD:21816 Contractures-developmental delay-Pierre Robin syndrome skos:exactMatch Orphanet:436003 semapv:UnspecifiedMatching +GARD:21817 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:exactMatch Orphanet:436141 semapv:UnspecifiedMatching +GARD:21818 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:exactMatch Orphanet:436144 semapv:UnspecifiedMatching +GARD:21819 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:exactMatch Orphanet:436271 semapv:UnspecifiedMatching +GARD:21820 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:exactMatch Orphanet:436274 semapv:UnspecifiedMatching +GARD:21821 Disorder of keton body transport skos:exactMatch Orphanet:438072 semapv:UnspecifiedMatching +GARD:21822 Human infection by orthopoxvirus skos:exactMatch Orphanet:438279 semapv:UnspecifiedMatching +GARD:21823 Placental insufficiency skos:exactMatch Orphanet:439167 semapv:UnspecifiedMatching +GARD:21824 Pediatric arterial ischemic stroke skos:exactMatch Orphanet:439175 semapv:UnspecifiedMatching +GARD:21825 Zinc-responsive necrolytic acral erythema skos:exactMatch Orphanet:439196 semapv:UnspecifiedMatching +GARD:21826 Non-recovering obstetric brachial plexus lesion skos:exactMatch Orphanet:439202 semapv:UnspecifiedMatching +GARD:21827 ALECT2 amyloidosis skos:exactMatch Orphanet:439224 semapv:UnspecifiedMatching +GARD:21828 AApoAIV amyloidosis skos:exactMatch Orphanet:439232 semapv:UnspecifiedMatching +GARD:21829 ABeta2M amyloidosis skos:exactMatch Orphanet:439246 semapv:UnspecifiedMatching +GARD:21830 Primary polyarteritis nodosa skos:exactMatch Orphanet:439737 semapv:UnspecifiedMatching +GARD:21831 Secondary polyarteritis nodosa skos:exactMatch Orphanet:439746 semapv:UnspecifiedMatching +GARD:21832 Single-organ polyarteritis nodosa skos:exactMatch Orphanet:439755 semapv:UnspecifiedMatching +GARD:21833 Systemic polyarteritis nodosa skos:exactMatch Orphanet:439762 semapv:UnspecifiedMatching +GARD:21834 Autosomal recessive severe congenital neutropenia skos:exactMatch Orphanet:439849 semapv:UnspecifiedMatching +GARD:21835 Plastic bronchitis skos:exactMatch Orphanet:439881 semapv:UnspecifiedMatching +GARD:21836 Congenital oculomotor nerve palsy skos:exactMatch Orphanet:440221 semapv:UnspecifiedMatching +GARD:21837 Congenital abducens nerve palsy skos:exactMatch Orphanet:440233 semapv:UnspecifiedMatching +GARD:21838 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:exactMatch Orphanet:440354 semapv:UnspecifiedMatching +GARD:21839 Necrotizing soft tissue infection skos:exactMatch Orphanet:440368 semapv:UnspecifiedMatching +GARD:21840 Familial colorectal cancer Type X skos:exactMatch Orphanet:440437 semapv:UnspecifiedMatching +GARD:21841 Disorders of pentose/polyol metabolism skos:exactMatch Orphanet:440701 semapv:UnspecifiedMatching +GARD:21842 Extensive peripapillary myelinated nerve fibers skos:exactMatch Orphanet:440724 semapv:UnspecifiedMatching +GARD:21843 Combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch Orphanet:440727 semapv:UnspecifiedMatching +GARD:21844 Isolated agenesis of gallbladder skos:exactMatch Orphanet:440987 semapv:UnspecifiedMatching +GARD:21845 Syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 semapv:UnspecifiedMatching +GARD:21846 Early-onset posterior subcapsular cataract skos:exactMatch Orphanet:441447 semapv:UnspecifiedMatching +GARD:21847 AH amyloidosis skos:exactMatch Orphanet:442582 semapv:UnspecifiedMatching +GARD:21848 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect skos:exactMatch Orphanet:443090 semapv:UnspecifiedMatching +GARD:21849 Hyperinsulinemic hypoglycaemia skos:exactMatch Orphanet:443095 semapv:UnspecifiedMatching +GARD:21850 Hypothalamic adipsic hypernatraemia syndrome skos:exactMatch Orphanet:443101 semapv:UnspecifiedMatching +GARD:21851 Lymphoplasmacytic lymphoma without IgM production skos:exactMatch Orphanet:443159 semapv:UnspecifiedMatching +GARD:21852 NUT midline carcinoma skos:exactMatch Orphanet:443167 semapv:UnspecifiedMatching +GARD:21853 Postpartum psychosis skos:exactMatch Orphanet:443173 semapv:UnspecifiedMatching +GARD:21854 Spontaneous intracranial hypotension skos:exactMatch Orphanet:443180 semapv:UnspecifiedMatching +GARD:21855 Paratyphoid fever skos:exactMatch Orphanet:443227 semapv:UnspecifiedMatching +GARD:21856 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor skos:exactMatch Orphanet:443287 semapv:UnspecifiedMatching +GARD:21857 HIV-associated cancer skos:exactMatch Orphanet:443291 semapv:UnspecifiedMatching +GARD:21858 11q22.2q22.3 microdeletion syndrome skos:exactMatch Orphanet:444002 semapv:UnspecifiedMatching +GARD:21859 20q11.2 microdeletion syndrome skos:exactMatch Orphanet:444051 semapv:UnspecifiedMatching +GARD:21860 Idiopathic phalangeal acro-osteolysis skos:exactMatch Orphanet:444316 semapv:UnspecifiedMatching +GARD:21861 Pseudohypoaldosteronism skos:exactMatch Orphanet:444916 semapv:UnspecifiedMatching +GARD:21862 Caudal regression-sirenomelia spectrum skos:exactMatch Orphanet:444941 semapv:UnspecifiedMatching +GARD:21863 Secondary vasculitis skos:exactMatch Orphanet:445197 semapv:UnspecifiedMatching +GARD:21864 NIK deficiency skos:exactMatch Orphanet:447731 semapv:UnspecifiedMatching +GARD:21865 Susceptibility to localized juvenile periodontitis skos:exactMatch Orphanet:447740 semapv:UnspecifiedMatching +GARD:21866 Autosomal dominant spastic paraplegia type 9B skos:exactMatch Orphanet:447757 semapv:UnspecifiedMatching +GARD:21867 IgG4-related sclerosing cholangitis skos:exactMatch Orphanet:447764 semapv:UnspecifiedMatching +GARD:21868 Sclerosing cholangitis skos:exactMatch Orphanet:447771 semapv:UnspecifiedMatching +GARD:21869 Secondary sclerosing cholangitis skos:exactMatch Orphanet:447774 semapv:UnspecifiedMatching +GARD:21870 Keratocystic odontogenic tumor skos:exactMatch Orphanet:447777 semapv:UnspecifiedMatching +GARD:21871 Cerebral visual impairment skos:exactMatch Orphanet:447788 semapv:UnspecifiedMatching +GARD:21872 Lipoyl transferase 2 deficiency skos:exactMatch Orphanet:447795 semapv:UnspecifiedMatching +GARD:21873 Biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 semapv:UnspecifiedMatching +GARD:21874 Idiopathic dropped head syndrome skos:exactMatch Orphanet:447881 semapv:UnspecifiedMatching +GARD:21875 19p13.3 microduplication syndrome skos:exactMatch Orphanet:447980 semapv:UnspecifiedMatching +GARD:21876 Partial duplication of the short arm of chromosome 19 skos:exactMatch Orphanet:447985 semapv:UnspecifiedMatching +GARD:21877 Ectopia cordis skos:exactMatch Orphanet:448270 semapv:UnspecifiedMatching +GARD:21878 Genetic primary orthostatic hypotension skos:exactMatch Orphanet:448426 semapv:UnspecifiedMatching +GARD:21879 Pleural empyema skos:exactMatch Orphanet:449266 semapv:UnspecifiedMatching +GARD:2188 Erosive pustular dermatosis of the scalp skos:exactMatch Orphanet:222 semapv:UnspecifiedMatching +GARD:21880 Scedosporiosis skos:exactMatch Orphanet:449280 semapv:UnspecifiedMatching +GARD:21881 Snakebite envenomation skos:exactMatch Orphanet:449285 semapv:UnspecifiedMatching +GARD:21882 IgG4-related kidney disease skos:exactMatch Orphanet:449395 semapv:UnspecifiedMatching +GARD:21883 IgG4-related aortitis skos:exactMatch Orphanet:449400 semapv:UnspecifiedMatching +GARD:21884 IgG4-related submandibular gland disease skos:exactMatch Orphanet:449432 semapv:UnspecifiedMatching +GARD:21885 IgG4-related ophthalmic disease skos:exactMatch Orphanet:449563 semapv:UnspecifiedMatching +GARD:21886 Eosinophilic angiocentric fibrosis skos:exactMatch Orphanet:449566 semapv:UnspecifiedMatching +GARD:21887 Polyclonal hyperviscosity syndrome skos:exactMatch Orphanet:450322 semapv:UnspecifiedMatching +GARD:21888 Primary cutaneous plasmacytosis skos:exactMatch Orphanet:451602 semapv:UnspecifiedMatching +GARD:21889 Cutaneous pseudolymphoma skos:exactMatch Orphanet:451607 semapv:UnspecifiedMatching +GARD:21890 Congenital insensitivity to pain with severe intellectual disability skos:exactMatch Orphanet:453510 semapv:UnspecifiedMatching +GARD:21891 Progressive muscular atrophy skos:exactMatch Orphanet:454706 semapv:UnspecifiedMatching +GARD:21892 Anti-p200 pemphigoid skos:exactMatch Orphanet:454710 semapv:UnspecifiedMatching +GARD:21893 Endometrioid carcinoma of ovary skos:exactMatch Orphanet:454723 semapv:UnspecifiedMatching +GARD:21894 Variably protease-sensitive prionopathy skos:exactMatch Orphanet:454742 semapv:UnspecifiedMatching +GARD:21895 Isolated tracheoesophageal fistula skos:exactMatch Orphanet:454750 semapv:UnspecifiedMatching +GARD:21896 Acute radiation syndrome skos:exactMatch Orphanet:454831 semapv:UnspecifiedMatching +GARD:21897 Avian influenza skos:exactMatch Orphanet:454836 semapv:UnspecifiedMatching +GARD:21898 1p35.2 microdeletion syndrome skos:exactMatch Orphanet:456298 semapv:UnspecifiedMatching +GARD:21899 Hereditary neuroendocrine tumor of small intestine skos:exactMatch Orphanet:456333 semapv:UnspecifiedMatching +GARD:21900 Pseudohypoparathyroidism without Albright hereditary osteodystrophy skos:exactMatch Orphanet:457062 semapv:UnspecifiedMatching +GARD:21901 Congenital nemaline myopathy skos:exactMatch Orphanet:457074 semapv:UnspecifiedMatching +GARD:21902 TAFRO syndrome skos:exactMatch Orphanet:457077 semapv:UnspecifiedMatching +GARD:21903 Isolated splenogonadal fusion skos:exactMatch Orphanet:457083 semapv:UnspecifiedMatching +GARD:21904 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:exactMatch Orphanet:457205 semapv:UnspecifiedMatching +GARD:21905 Clear cell sarcoma of kidney skos:exactMatch Orphanet:457246 semapv:UnspecifiedMatching +GARD:21906 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:exactMatch Orphanet:457365 semapv:UnspecifiedMatching +GARD:21907 Composite hemangioendothelioma skos:exactMatch Orphanet:458758 semapv:UnspecifiedMatching +GARD:21908 Retiform hemangioendothelioma skos:exactMatch Orphanet:458763 semapv:UnspecifiedMatching +GARD:21909 Primary intralymphatic angioendothelioma skos:exactMatch Orphanet:458768 semapv:UnspecifiedMatching +GARD:2191 Complement component 5 deficiency skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +GARD:2191 Complement component 5 deficiency skos:exactMatch OMIM:609536 semapv:UnspecifiedMatching +GARD:21910 Congenital hemangioma skos:exactMatch Orphanet:458775 semapv:UnspecifiedMatching +GARD:21911 Partially involuting congenital hemangioma skos:exactMatch Orphanet:458785 semapv:UnspecifiedMatching +GARD:21912 Mixed cystic lymphatic malformation skos:exactMatch Orphanet:458792 semapv:UnspecifiedMatching +GARD:21913 Vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 semapv:UnspecifiedMatching +GARD:21914 Rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 semapv:UnspecifiedMatching +GARD:21915 Common cystic lymphatic malformation skos:exactMatch Orphanet:458833 semapv:UnspecifiedMatching +GARD:21916 Rare combined vascular malformation skos:exactMatch Orphanet:458837 semapv:UnspecifiedMatching +GARD:21917 Rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 semapv:UnspecifiedMatching +GARD:21918 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:exactMatch Orphanet:459074 semapv:UnspecifiedMatching +GARD:21919 Immunodeficiency due to a complement cascade component deficiency skos:exactMatch Orphanet:459345 semapv:UnspecifiedMatching +GARD:2192 Congenital lethal erythroderma skos:exactMatch Orphanet:1954 semapv:UnspecifiedMatching +GARD:2192 Congenital lethal erythroderma skos:narrowMatch OMIM:227090 semapv:UnspecifiedMatching +GARD:21920 Immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 semapv:UnspecifiedMatching +GARD:21921 Rare genetic capillary malformation skos:exactMatch Orphanet:459526 semapv:UnspecifiedMatching +GARD:21922 Genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 semapv:UnspecifiedMatching +GARD:21923 Rare genetic vascular tumor skos:exactMatch Orphanet:459543 semapv:UnspecifiedMatching +GARD:21924 Rare genetic venous malformation skos:exactMatch Orphanet:459548 semapv:UnspecifiedMatching +GARD:21925 Lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 semapv:UnspecifiedMatching +GARD:21926 Intellectual disability syndrome due to a DYRK1A point mutation skos:exactMatch Orphanet:464311 semapv:UnspecifiedMatching +GARD:21927 Verrucous hemangioma skos:exactMatch Orphanet:464318 semapv:UnspecifiedMatching +GARD:21928 Benign metanephric tumor skos:exactMatch Orphanet:464359 semapv:UnspecifiedMatching +GARD:21929 Neonatal alloimmune neutropenia skos:exactMatch Orphanet:464370 semapv:UnspecifiedMatching +GARD:21930 Acquired methemoglobinemia skos:exactMatch Orphanet:464453 semapv:UnspecifiedMatching +GARD:21931 Paracetamol poisoning skos:exactMatch Orphanet:464458 semapv:UnspecifiedMatching +GARD:21932 Familial gastric type 1 neuroendocrine tumor skos:exactMatch Orphanet:464756 semapv:UnspecifiedMatching +GARD:21933 Immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 semapv:UnspecifiedMatching +GARD:21934 Genetic hemoglobinopathy skos:exactMatch Orphanet:466066 semapv:UnspecifiedMatching +GARD:21935 Genetic otorhinolaryngologic disease skos:exactMatch Orphanet:466084 semapv:UnspecifiedMatching +GARD:21936 Exercise-induced malignant hyperthermia skos:exactMatch Orphanet:466650 semapv:UnspecifiedMatching +GARD:21937 Rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 semapv:UnspecifiedMatching +GARD:21938 Cyanide poisoning skos:exactMatch Orphanet:466670 semapv:UnspecifiedMatching +GARD:21939 Scorpion envenomation skos:exactMatch Orphanet:466677 semapv:UnspecifiedMatching +GARD:21940 Euthyroid Graves orbitopathy skos:exactMatch Orphanet:466682 semapv:UnspecifiedMatching +GARD:21941 Supratip dysplasia skos:exactMatch Orphanet:466695 semapv:UnspecifiedMatching +GARD:21942 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:exactMatch Orphanet:466921 semapv:UnspecifiedMatching +GARD:21943 SMARCA4-deficient sarcoma of thorax skos:exactMatch Orphanet:466962 semapv:UnspecifiedMatching +GARD:21944 Tubulinopathy-associated dysgyria skos:exactMatch Orphanet:467166 semapv:UnspecifiedMatching +GARD:21945 Cryptogenic multifocal ulcerous stenosing enteritis skos:exactMatch Orphanet:468635 semapv:UnspecifiedMatching +GARD:21946 Chronic enteropathy associated with SLCO2A1 gene skos:exactMatch Orphanet:468641 semapv:UnspecifiedMatching +GARD:21947 Genetic lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:471383 semapv:UnspecifiedMatching +GARD:21948 Rare congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 semapv:UnspecifiedMatching +GARD:21949 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:exactMatch Orphanet:476093 semapv:UnspecifiedMatching +GARD:2195 Thickened earlobes-conductive deafness syndrome skos:exactMatch Orphanet:2405 semapv:UnspecifiedMatching +GARD:2195 Thickened earlobes-conductive deafness syndrome skos:narrowMatch OMIM:128980 semapv:UnspecifiedMatching +GARD:21950 Erythrokeratodermia-cardiomyopathy syndrome skos:exactMatch Orphanet:476096 semapv:UnspecifiedMatching +GARD:21951 Axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 semapv:UnspecifiedMatching +GARD:21952 Demyelinating hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476116 semapv:UnspecifiedMatching +GARD:21953 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:exactMatch Orphanet:476119 semapv:UnspecifiedMatching +GARD:21954 Intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:476123 semapv:UnspecifiedMatching +GARD:21955 Hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 semapv:UnspecifiedMatching +GARD:21956 Congenital generalized hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476406 semapv:UnspecifiedMatching +GARD:21957 Type 1 interferonopathy skos:exactMatch Orphanet:477647 semapv:UnspecifiedMatching +GARD:21958 Fibroblastic rheumatism skos:exactMatch Orphanet:477650 semapv:UnspecifiedMatching +GARD:21959 Nodular fasciitis skos:exactMatch Orphanet:477742 semapv:UnspecifiedMatching +GARD:21960 Genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 semapv:UnspecifiedMatching +GARD:21961 COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 semapv:UnspecifiedMatching +GARD:21962 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy skos:exactMatch Orphanet:477762 semapv:UnspecifiedMatching +GARD:21963 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy skos:exactMatch Orphanet:477765 semapv:UnspecifiedMatching +GARD:21964 Moyamoya angiopathy skos:exactMatch Orphanet:477768 semapv:UnspecifiedMatching +GARD:21965 Rare disorder with a moyamoya angiopathy skos:exactMatch Orphanet:477771 semapv:UnspecifiedMatching +GARD:21966 Primary condylar hyperplasia skos:exactMatch Orphanet:477781 semapv:UnspecifiedMatching +GARD:21967 Syndromic constitutional thrombocytopenia skos:exactMatch Orphanet:477794 semapv:UnspecifiedMatching +GARD:21968 Isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 semapv:UnspecifiedMatching +GARD:21969 Genetic cardiac malformation skos:exactMatch Orphanet:477805 semapv:UnspecifiedMatching +GARD:2197 Esthesioneuroblastoma skos:exactMatch Orphanet:1957 semapv:UnspecifiedMatching +GARD:21970 Other genetic dermis disorder skos:exactMatch Orphanet:477808 semapv:UnspecifiedMatching +GARD:21971 Rare hypercholesterolemia skos:exactMatch Orphanet:477811 semapv:UnspecifiedMatching +GARD:21972 MYO5B-related progressive familial intrahepatic cholestasis skos:exactMatch Orphanet:480491 semapv:UnspecifiedMatching +GARD:21973 Choledochal cyst skos:exactMatch Orphanet:480501 semapv:UnspecifiedMatching +GARD:21974 Primary intrahepatic lithiasis skos:exactMatch Orphanet:480506 semapv:UnspecifiedMatching +GARD:21975 Idiopathic ductopenia skos:exactMatch Orphanet:480512 semapv:UnspecifiedMatching +GARD:21976 Caroli syndrome skos:exactMatch Orphanet:480520 semapv:UnspecifiedMatching +GARD:21977 Idiopathic peliosis hepatis skos:exactMatch Orphanet:480524 semapv:UnspecifiedMatching +GARD:21978 Lethal hydranencephaly-diaphragmatic hernia syndrome skos:exactMatch Orphanet:480528 semapv:UnspecifiedMatching +GARD:21979 Congenital portosystemic shunt skos:exactMatch Orphanet:480531 semapv:UnspecifiedMatching +GARD:2198 Ethylmalonic encephalopathy skos:exactMatch Orphanet:51188 semapv:UnspecifiedMatching +GARD:2198 Ethylmalonic encephalopathy skos:narrowMatch OMIM:602473 semapv:UnspecifiedMatching +GARD:21980 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:exactMatch Orphanet:480541 semapv:UnspecifiedMatching +GARD:21981 Non-severe combined immunodeficiency skos:exactMatch Orphanet:480549 semapv:UnspecifiedMatching +GARD:21982 Aneurysmal bone cyst skos:exactMatch Orphanet:480553 semapv:UnspecifiedMatching +GARD:21983 Isolated neonatal sclerosing cholangitis skos:exactMatch Orphanet:480556 semapv:UnspecifiedMatching +GARD:21984 Facial diplegia with paresthesias skos:exactMatch Orphanet:480701 semapv:UnspecifiedMatching +GARD:21985 Gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 semapv:UnspecifiedMatching +GARD:21986 Type 1 interferonopathy of childhood skos:exactMatch Orphanet:481671 semapv:UnspecifiedMatching +GARD:21987 Genetic alopecia skos:exactMatch Orphanet:481771 semapv:UnspecifiedMatching +GARD:21988 HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 semapv:UnspecifiedMatching +GARD:21989 Rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 semapv:UnspecifiedMatching +GARD:21990 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:exactMatch Orphanet:482606 semapv:UnspecifiedMatching +GARD:21991 Propylthiouracil embryofetopathy skos:exactMatch Orphanet:485358 semapv:UnspecifiedMatching +GARD:21992 Genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 semapv:UnspecifiedMatching +GARD:21993 16p12.1p12.3 triplication syndrome skos:exactMatch Orphanet:485405 semapv:UnspecifiedMatching +GARD:21994 EMILIN-1-related connective tissue disease skos:exactMatch Orphanet:485418 semapv:UnspecifiedMatching +GARD:21995 Isolated congenital hepatic fibrosis skos:exactMatch Orphanet:485426 semapv:UnspecifiedMatching +GARD:21996 Congenital bile acid synthesis defect skos:exactMatch Orphanet:485631 semapv:UnspecifiedMatching +GARD:21997 Rare pediatric rheumatologic disease skos:exactMatch Orphanet:486955 semapv:UnspecifiedMatching +GARD:21998 Pediatric collagenous gastritis skos:exactMatch Orphanet:487809 semapv:UnspecifiedMatching +GARD:21999 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation skos:exactMatch Orphanet:487814 semapv:UnspecifiedMatching +GARD:22 Björnstad syndrome skos:exactMatch Orphanet:123 semapv:UnspecifiedMatching +GARD:22 Björnstad syndrome skos:narrowMatch OMIM:262000 semapv:UnspecifiedMatching +GARD:220 Peripartum cardiomyopathy skos:exactMatch Orphanet:563 semapv:UnspecifiedMatching +GARD:22000 Acute macular neuroretinopathy skos:exactMatch Orphanet:488239 semapv:UnspecifiedMatching +GARD:22001 SIX2-related frontonasal dysplasia skos:exactMatch Orphanet:488437 semapv:UnspecifiedMatching +GARD:22002 Congenital amyoplasia skos:exactMatch Orphanet:488586 semapv:UnspecifiedMatching +GARD:22003 Extracranial carotid artery aneurysm skos:exactMatch Orphanet:494424 semapv:UnspecifiedMatching +GARD:22004 Idiopathic pleuroparenchymal fibroelastosis skos:exactMatch Orphanet:494428 semapv:UnspecifiedMatching +GARD:22005 Vulvar squamous cell carcinoma skos:exactMatch Orphanet:494448 semapv:UnspecifiedMatching +GARD:22006 Vulvar basal cell carcinoma skos:exactMatch Orphanet:494451 semapv:UnspecifiedMatching +GARD:22007 Vulvar adenocarcinoma skos:exactMatch Orphanet:494454 semapv:UnspecifiedMatching +GARD:22008 Rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 semapv:UnspecifiedMatching +GARD:22009 9q33.3q34.11 microdeletion syndrome skos:exactMatch Orphanet:495818 semapv:UnspecifiedMatching +GARD:22010 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:exactMatch Orphanet:495875 semapv:UnspecifiedMatching +GARD:22011 Congenital agenesis of the scrotum skos:exactMatch Orphanet:495879 semapv:UnspecifiedMatching +GARD:22012 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:exactMatch Orphanet:496689 semapv:UnspecifiedMatching +GARD:22013 Rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 semapv:UnspecifiedMatching +GARD:22014 Non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 semapv:UnspecifiedMatching +GARD:22015 C12ORF65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 semapv:UnspecifiedMatching +GARD:22016 Epidermolytic nevus skos:exactMatch Orphanet:497737 semapv:UnspecifiedMatching +GARD:22017 Menstrual cycle-dependent periodic fever skos:exactMatch Orphanet:498251 semapv:UnspecifiedMatching +GARD:22018 Biliary atresia and associated disorders skos:exactMatch Orphanet:498345 semapv:UnspecifiedMatching +GARD:22019 Syndromic biliary atresia skos:exactMatch Orphanet:498350 semapv:UnspecifiedMatching +GARD:2202 Exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch Orphanet:1962 semapv:UnspecifiedMatching +GARD:2202 Exostoses-anetodermia-brachydactyly type E syndrome skos:narrowMatch OMIM:133690 semapv:UnspecifiedMatching +GARD:22020 Genetic inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 semapv:UnspecifiedMatching +GARD:22021 Overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 semapv:UnspecifiedMatching +GARD:22022 Dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 semapv:UnspecifiedMatching +GARD:22023 Dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 semapv:UnspecifiedMatching +GARD:22024 Longitudinal limb defect skos:exactMatch Orphanet:498457 semapv:UnspecifiedMatching +GARD:22025 Terminal transverse limb defect skos:exactMatch Orphanet:498461 semapv:UnspecifiedMatching +GARD:22026 Non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 semapv:UnspecifiedMatching +GARD:22027 Non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 semapv:UnspecifiedMatching +GARD:22028 Non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 semapv:UnspecifiedMatching +GARD:22029 Hyaline fibromatosis syndrome skos:exactMatch Orphanet:498474 semapv:UnspecifiedMatching +GARD:22030 Ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 semapv:UnspecifiedMatching +GARD:22031 LRP5-related primary osteoporosis skos:exactMatch Orphanet:498481 semapv:UnspecifiedMatching +GARD:22032 Overgrowth syndrome with 2q37 translocation skos:exactMatch Orphanet:498488 semapv:UnspecifiedMatching +GARD:22033 Complete hemimelia skos:exactMatch Orphanet:498491 semapv:UnspecifiedMatching +GARD:22034 Mirror-image polydactyly skos:exactMatch Orphanet:498494 semapv:UnspecifiedMatching +GARD:22035 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:exactMatch Orphanet:498693 semapv:UnspecifiedMatching +GARD:22036 Congenital syphilis skos:exactMatch Orphanet:499009 semapv:UnspecifiedMatching +GARD:22037 Autoimmune/inflammatory optic neuropathy skos:exactMatch Orphanet:499047 semapv:UnspecifiedMatching +GARD:22038 Chronic relapsing inflammatory optic neuropathy skos:exactMatch Orphanet:499085 semapv:UnspecifiedMatching +GARD:22039 Isolated optic neuritis skos:exactMatch Orphanet:499096 semapv:UnspecifiedMatching +GARD:2204 Exostoses, multiple, type i skos:broadMatch Orphanet:321 semapv:UnspecifiedMatching +GARD:2204 Exostoses, multiple, type i skos:exactMatch OMIM:133700 semapv:UnspecifiedMatching +GARD:22040 Recurrent idiopathic neuroretinitis skos:exactMatch Orphanet:499103 semapv:UnspecifiedMatching +GARD:22041 Idiopathic optic perineuritis skos:exactMatch Orphanet:499107 semapv:UnspecifiedMatching +GARD:22042 Pilomatrix carcinoma skos:exactMatch Orphanet:499182 semapv:UnspecifiedMatching +GARD:22043 Witteveen-Kolk syndrome skos:exactMatch Orphanet:500163 semapv:UnspecifiedMatching +GARD:22044 Cochleovestibular malformation skos:exactMatch Orphanet:502305 semapv:UnspecifiedMatching +GARD:22045 Cochlear nerve deficiency skos:exactMatch Orphanet:502318 semapv:UnspecifiedMatching +GARD:22046 Squamous cell carcinoma of oral cavity and lip skos:exactMatch Orphanet:502369 semapv:UnspecifiedMatching +GARD:22047 Metopic ridging-ptosis-facial dysmorphism syndrome skos:exactMatch Orphanet:502430 semapv:UnspecifiedMatching +GARD:22048 4q25 proximal deletion syndrome skos:exactMatch Orphanet:502437 semapv:UnspecifiedMatching +GARD:22049 Erythema multiforme major skos:exactMatch Orphanet:502499 semapv:UnspecifiedMatching +GARD:2205 Exostoses, multiple, type ii skos:broadMatch Orphanet:321 semapv:UnspecifiedMatching +GARD:2205 Exostoses, multiple, type ii skos:exactMatch OMIM:133701 semapv:UnspecifiedMatching +GARD:22050 3-methylglutaconic aciduria type 8 skos:exactMatch Orphanet:505208 semapv:UnspecifiedMatching +GARD:22051 Ventilator-induced diaphragmatic dysfunction skos:exactMatch Orphanet:505395 semapv:UnspecifiedMatching +GARD:22052 Neuroendocrine neoplasm of pancreas skos:exactMatch Orphanet:506052 semapv:UnspecifiedMatching +GARD:22053 Functioning neuroendocrine tumor of pancreas skos:exactMatch Orphanet:506060 semapv:UnspecifiedMatching +GARD:22054 Non-functioning neuroendocrine tumor of pancreas skos:exactMatch Orphanet:506075 semapv:UnspecifiedMatching +GARD:22055 Serotonin-producing neuroendocrine tumor of pancreas skos:exactMatch Orphanet:506090 semapv:UnspecifiedMatching +GARD:22056 Neuroendocrine carcinoma of pancreas skos:exactMatch Orphanet:506098 semapv:UnspecifiedMatching +GARD:22057 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas skos:exactMatch Orphanet:506112 semapv:UnspecifiedMatching +GARD:22058 Neuroendocrine neoplasm of esophagus skos:exactMatch Orphanet:506136 semapv:UnspecifiedMatching +GARD:22059 Rare disorder potentially indicated for transplant skos:exactMatch Orphanet:506207 semapv:UnspecifiedMatching +GARD:2206 Exostoses, multiple, type iii skos:broadMatch Orphanet:321 semapv:UnspecifiedMatching +GARD:2206 Exostoses, multiple, type iii skos:exactMatch OMIM:600209 semapv:UnspecifiedMatching +GARD:22060 Rare disorder potentially indicated for liver transplant skos:exactMatch Orphanet:506210 semapv:UnspecifiedMatching +GARD:22061 Rare disorder potentially indicated for kidney transplant skos:exactMatch Orphanet:506213 semapv:UnspecifiedMatching +GARD:22062 Rare disorder potentially indicated for bowel transplant skos:exactMatch Orphanet:506216 semapv:UnspecifiedMatching +GARD:22063 Rare disorder potentially indicated for hematopoietic stem cell transplant skos:exactMatch Orphanet:506219 semapv:UnspecifiedMatching +GARD:22064 Rare disorder potentially indicated for lung transplant skos:exactMatch Orphanet:506222 semapv:UnspecifiedMatching +GARD:22065 Rare disorder potentially indicated for heart transplant skos:exactMatch Orphanet:506225 semapv:UnspecifiedMatching +GARD:22066 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:exactMatch Orphanet:506784 semapv:UnspecifiedMatching +GARD:22067 Familial intestinal malrotation skos:exactMatch Orphanet:508410 semapv:UnspecifiedMatching +GARD:22068 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome skos:exactMatch Orphanet:508476 semapv:UnspecifiedMatching +GARD:22069 Oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch Orphanet:508501 semapv:UnspecifiedMatching +GARD:2207 Exstrophy-epispadias complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching +GARD:2207 Exstrophy-epispadias complex skos:narrowMatch OMIM:258040 semapv:UnspecifiedMatching +GARD:2207 Exstrophy-epispadias complex skos:narrowMatch OMIM:600057 semapv:UnspecifiedMatching +GARD:22070 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:exactMatch Orphanet:508533 semapv:UnspecifiedMatching +GARD:22071 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:exactMatch Orphanet:508542 semapv:UnspecifiedMatching +GARD:22072 Chronic lymphoproliferative disorder of natural killer cells skos:exactMatch Orphanet:512017 semapv:UnspecifiedMatching +GARD:22073 Large granular lymphocyte leukemia skos:exactMatch Orphanet:512034 semapv:UnspecifiedMatching +GARD:22074 Autosomal recessive epidermolytic ichthyosis skos:exactMatch Orphanet:512103 semapv:UnspecifiedMatching +GARD:22075 Congenital cerebellar ataxia due to RNU12 mutation skos:exactMatch Orphanet:512260 semapv:UnspecifiedMatching +GARD:22076 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:exactMatch Orphanet:514352 semapv:UnspecifiedMatching +GARD:22077 ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 semapv:UnspecifiedMatching +GARD:22078 Inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 semapv:UnspecifiedMatching +GARD:22079 Rare disorder of the ocular adnexa skos:exactMatch Orphanet:519266 semapv:UnspecifiedMatching +GARD:22080 Rare disorder with ectropion skos:exactMatch Orphanet:519268 semapv:UnspecifiedMatching +GARD:22081 Rare disorder with entropion skos:exactMatch Orphanet:519270 semapv:UnspecifiedMatching +GARD:22082 Structural developmental eye defect skos:exactMatch Orphanet:519272 semapv:UnspecifiedMatching +GARD:22083 Syndromic lacrimal system disorder skos:exactMatch Orphanet:519274 semapv:UnspecifiedMatching +GARD:22084 Anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 semapv:UnspecifiedMatching +GARD:22085 Infective keratitis skos:exactMatch Orphanet:519278 semapv:UnspecifiedMatching +GARD:22086 Rare conjunctivitis skos:exactMatch Orphanet:519280 semapv:UnspecifiedMatching +GARD:22087 Rare corneal disorder skos:exactMatch Orphanet:519282 semapv:UnspecifiedMatching +GARD:22088 Rare disorder of the anterior segment of the eye skos:exactMatch Orphanet:519284 semapv:UnspecifiedMatching +GARD:22089 Rare disorder of the pupil skos:exactMatch Orphanet:519286 semapv:UnspecifiedMatching +GARD:22090 Rare disorder with corneal involvement as a major feature skos:exactMatch Orphanet:519288 semapv:UnspecifiedMatching +GARD:22091 Rare inflammatory/autoimmune corneal disorder skos:exactMatch Orphanet:519290 semapv:UnspecifiedMatching +GARD:22092 Syndromic ectopia lentis skos:exactMatch Orphanet:519292 semapv:UnspecifiedMatching +GARD:22093 Syndromic microspherophakia skos:exactMatch Orphanet:519294 semapv:UnspecifiedMatching +GARD:22094 Rare disorder with pigmented sclera skos:exactMatch Orphanet:519296 semapv:UnspecifiedMatching +GARD:22095 Rare scleral disorder skos:exactMatch Orphanet:519298 semapv:UnspecifiedMatching +GARD:22096 Isolated chorioretinal dystrophy skos:exactMatch Orphanet:519300 semapv:UnspecifiedMatching +GARD:22097 Isolated macular dystrophy skos:exactMatch Orphanet:519302 semapv:UnspecifiedMatching +GARD:22098 Isolated vitreoretinopathy skos:exactMatch Orphanet:519304 semapv:UnspecifiedMatching +GARD:22099 Isolated progressive inherited retinal disorder skos:exactMatch Orphanet:519306 semapv:UnspecifiedMatching +GARD:221 Dilated cardiomyopathy skos:exactMatch Orphanet:217604 semapv:UnspecifiedMatching +GARD:22100 Rare choroidal disorder skos:exactMatch Orphanet:519309 semapv:UnspecifiedMatching +GARD:22101 Rare disorder of the posterior segment of the eye skos:exactMatch Orphanet:519311 semapv:UnspecifiedMatching +GARD:22102 Rare macular disorder skos:exactMatch Orphanet:519313 semapv:UnspecifiedMatching +GARD:22103 Rare retinal disorder skos:exactMatch Orphanet:519315 semapv:UnspecifiedMatching +GARD:22104 Rare retinal vasculopathy skos:exactMatch Orphanet:519317 semapv:UnspecifiedMatching +GARD:22105 Isolated stationary inherited retinal disorder skos:exactMatch Orphanet:519319 semapv:UnspecifiedMatching +GARD:22106 Syndromic chorioretinal dystrophy skos:exactMatch Orphanet:519321 semapv:UnspecifiedMatching +GARD:22107 Syndromic macular dystrophy skos:exactMatch Orphanet:519323 semapv:UnspecifiedMatching +GARD:22108 Syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 semapv:UnspecifiedMatching +GARD:22109 Syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 semapv:UnspecifiedMatching +GARD:22110 Rare disorder involving multiple structures of the eye skos:exactMatch Orphanet:519329 semapv:UnspecifiedMatching +GARD:22111 Secondary early-onset glaucoma skos:exactMatch Orphanet:519331 semapv:UnspecifiedMatching +GARD:22112 Congenital optic disc excavation skos:exactMatch Orphanet:519333 semapv:UnspecifiedMatching +GARD:22113 Disorder with optic nerve compression skos:exactMatch Orphanet:519337 semapv:UnspecifiedMatching +GARD:22114 Pseudopapilledema skos:exactMatch Orphanet:519339 semapv:UnspecifiedMatching +GARD:22115 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 semapv:UnspecifiedMatching +GARD:22116 Rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 semapv:UnspecifiedMatching +GARD:22117 Rare disorder with optic disc malformation skos:exactMatch Orphanet:519345 semapv:UnspecifiedMatching +GARD:22118 Rare neuromuscular disorder with ocular motility/alignment anomaly skos:exactMatch Orphanet:519347 semapv:UnspecifiedMatching +GARD:22119 Rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 semapv:UnspecifiedMatching +GARD:22120 Rare optic nerve disorder skos:exactMatch Orphanet:519351 semapv:UnspecifiedMatching +GARD:22121 Rare trochlear nerve disorder skos:exactMatch Orphanet:519353 semapv:UnspecifiedMatching +GARD:22122 Rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 semapv:UnspecifiedMatching +GARD:22123 Isolated congenital entropion skos:exactMatch Orphanet:519386 semapv:UnspecifiedMatching +GARD:22124 Isolated blepharochalasis skos:exactMatch Orphanet:519390 semapv:UnspecifiedMatching +GARD:22125 Isolated iridoschisis skos:exactMatch Orphanet:519392 semapv:UnspecifiedMatching +GARD:22126 Isolated microspherophakia skos:exactMatch Orphanet:519396 semapv:UnspecifiedMatching +GARD:22127 Isolated foveal hypoplasia skos:exactMatch Orphanet:519398 semapv:UnspecifiedMatching +GARD:22128 Peripapillary staphyloma skos:exactMatch Orphanet:519400 semapv:UnspecifiedMatching +GARD:22129 Isolated megalopapilla skos:exactMatch Orphanet:519402 semapv:UnspecifiedMatching +GARD:2213 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch Orphanet:1964 semapv:UnspecifiedMatching +GARD:2213 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:narrowMatch OMIM:133750 semapv:UnspecifiedMatching +GARD:22130 Optic disc pit skos:exactMatch Orphanet:519404 semapv:UnspecifiedMatching +GARD:22131 Thygeson superficial punctate keratitis skos:exactMatch Orphanet:519406 semapv:UnspecifiedMatching +GARD:22132 Mooren ulcer skos:exactMatch Orphanet:519408 semapv:UnspecifiedMatching +GARD:22133 Terrien marginal degeneration skos:exactMatch Orphanet:519410 semapv:UnspecifiedMatching +GARD:22134 Fungal keratitis skos:exactMatch Orphanet:519930 semapv:UnspecifiedMatching +GARD:22135 Rare disorder of the visual organs skos:exactMatch Orphanet:520814 semapv:UnspecifiedMatching +GARD:22136 Isolated inherited retinal disorder skos:exactMatch Orphanet:520817 semapv:UnspecifiedMatching +GARD:22137 Radiation-induced plexopathy skos:exactMatch Orphanet:521123 semapv:UnspecifiedMatching +GARD:22138 Osteoradionecrosis of the mandible skos:exactMatch Orphanet:521127 semapv:UnspecifiedMatching +GARD:22139 Radiation-induced disorder skos:exactMatch Orphanet:521132 semapv:UnspecifiedMatching +GARD:22140 Genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 semapv:UnspecifiedMatching +GARD:22141 Primary orthostatic disorder skos:exactMatch Orphanet:521236 semapv:UnspecifiedMatching +GARD:22142 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:exactMatch Orphanet:521308 semapv:UnspecifiedMatching +GARD:22143 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect skos:exactMatch Orphanet:521411 semapv:UnspecifiedMatching +GARD:22144 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:exactMatch Orphanet:521432 semapv:UnspecifiedMatching +GARD:22145 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:exactMatch Orphanet:521445 semapv:UnspecifiedMatching +GARD:22146 LAMA5-related multisystemic syndrome skos:exactMatch Orphanet:521450 semapv:UnspecifiedMatching +GARD:22147 Primary autoimmune enteropathy skos:exactMatch Orphanet:522037 semapv:UnspecifiedMatching +GARD:22148 Syndromic autoimmune enteropathy skos:exactMatch Orphanet:522043 semapv:UnspecifiedMatching +GARD:22149 Rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 semapv:UnspecifiedMatching +GARD:22150 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:522506 semapv:UnspecifiedMatching +GARD:22151 Rare genetic ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:522508 semapv:UnspecifiedMatching +GARD:22152 Rare genetic ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:522510 semapv:UnspecifiedMatching +GARD:22153 Rare genetic optic nerve disorder skos:exactMatch Orphanet:522512 semapv:UnspecifiedMatching +GARD:22154 Congenital optic disc excavation of genetic origin skos:exactMatch Orphanet:522514 semapv:UnspecifiedMatching +GARD:22155 Rare genetic ocular motility/alignment disorder skos:exactMatch Orphanet:522516 semapv:UnspecifiedMatching +GARD:22156 Rare genetic disorder with strabismus skos:exactMatch Orphanet:522518 semapv:UnspecifiedMatching +GARD:22157 Syndromic genetic disorder with strabismus skos:exactMatch Orphanet:522520 semapv:UnspecifiedMatching +GARD:22158 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly skos:exactMatch Orphanet:522522 semapv:UnspecifiedMatching +GARD:22159 Rare genetic disorder of the ocular adnexa skos:exactMatch Orphanet:522524 semapv:UnspecifiedMatching +GARD:2216 Eyebrow duplication-syndactyly syndrome skos:exactMatch Orphanet:3172 semapv:UnspecifiedMatching +GARD:2216 Eyebrow duplication-syndactyly syndrome skos:narrowMatch OMIM:227210 semapv:UnspecifiedMatching +GARD:22160 Rare genetic palpebral disorder skos:exactMatch Orphanet:522526 semapv:UnspecifiedMatching +GARD:22161 Rare genetic eyelid malposition disorder skos:exactMatch Orphanet:522528 semapv:UnspecifiedMatching +GARD:22162 Rare genetic disorder with entropion skos:exactMatch Orphanet:522530 semapv:UnspecifiedMatching +GARD:22163 Rare genetic disorder of the lacrimal apparatus skos:exactMatch Orphanet:522532 semapv:UnspecifiedMatching +GARD:22164 Lacrimal drainage system anomaly of genetic origin skos:exactMatch Orphanet:522534 semapv:UnspecifiedMatching +GARD:22165 Structural developmental eye defect of genetic origin skos:exactMatch Orphanet:522536 semapv:UnspecifiedMatching +GARD:22166 Rare genetic disorder of the anterior segment of the eye skos:exactMatch Orphanet:522538 semapv:UnspecifiedMatching +GARD:22167 Anterior segment developmental anomaly of genetic origin skos:exactMatch Orphanet:522540 semapv:UnspecifiedMatching +GARD:22168 Rare genetic disorder with conjunctival involvement as a major feature skos:exactMatch Orphanet:522542 semapv:UnspecifiedMatching +GARD:22169 Rare genetic disorder with lens opacification skos:exactMatch Orphanet:522546 semapv:UnspecifiedMatching +GARD:22170 Syndromic genetic cataract skos:exactMatch Orphanet:522548 semapv:UnspecifiedMatching +GARD:22171 Lens size anomaly of genetic origin skos:exactMatch Orphanet:522550 semapv:UnspecifiedMatching +GARD:22172 Lens position anomaly of genetic origin skos:exactMatch Orphanet:522552 semapv:UnspecifiedMatching +GARD:22173 Syndromic genetic ectopia lentis skos:exactMatch Orphanet:522554 semapv:UnspecifiedMatching +GARD:22174 Rare genetic corneal disorder skos:exactMatch Orphanet:522556 semapv:UnspecifiedMatching +GARD:22175 Rare genetic disorder with corneal involvement as a major feature skos:exactMatch Orphanet:522558 semapv:UnspecifiedMatching +GARD:22176 Genetic corneal dystrophy skos:exactMatch Orphanet:522560 semapv:UnspecifiedMatching +GARD:22177 Genetic superficial corneal dystrophy skos:exactMatch Orphanet:522562 semapv:UnspecifiedMatching +GARD:22178 Syndromic genetic keratoconus skos:exactMatch Orphanet:522564 semapv:UnspecifiedMatching +GARD:22179 Rare genetic inflammatory/autoimmune corneal disorder skos:exactMatch Orphanet:522566 semapv:UnspecifiedMatching +GARD:22180 Rare genetic disorder of the pupil skos:exactMatch Orphanet:522568 semapv:UnspecifiedMatching +GARD:22181 Rare genetic disorder of the posterior segment of the eye skos:exactMatch Orphanet:522570 semapv:UnspecifiedMatching +GARD:22182 Rare genetic retinal disorder skos:exactMatch Orphanet:522572 semapv:UnspecifiedMatching +GARD:22183 Rare genetic macular disorder skos:exactMatch Orphanet:522574 semapv:UnspecifiedMatching +GARD:22184 Rare genetic retinal vasculopathy skos:exactMatch Orphanet:522576 semapv:UnspecifiedMatching +GARD:22185 Rare genetic disorder involving multiple structures of the eye skos:exactMatch Orphanet:522578 semapv:UnspecifiedMatching +GARD:22186 Secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 semapv:UnspecifiedMatching +GARD:22187 Rare genetic choroidal disorder skos:exactMatch Orphanet:522584 semapv:UnspecifiedMatching +GARD:22188 Pediatric-onset glaucoma skos:exactMatch Orphanet:523000 semapv:UnspecifiedMatching +GARD:22189 Genetic congenital malformation of the eye with glaucoma as a major feature skos:exactMatch Orphanet:525677 semapv:UnspecifiedMatching +GARD:22190 Pediatric-onset Graves disease skos:exactMatch Orphanet:525731 semapv:UnspecifiedMatching +GARD:22191 Prepubertal anorexia nervosa skos:exactMatch Orphanet:525738 semapv:UnspecifiedMatching +GARD:22192 Encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch Orphanet:527276 semapv:UnspecifiedMatching +GARD:22193 Diaphragmatic hernia-short bowel-asplenia syndrome skos:exactMatch Orphanet:527468 semapv:UnspecifiedMatching +GARD:22194 Hereditary angioedema with C1Inh deficiency skos:exactMatch Orphanet:528623 semapv:UnspecifiedMatching +GARD:22195 Hereditary angioedema with normal C1Inh skos:exactMatch Orphanet:528647 semapv:UnspecifiedMatching +GARD:22196 Acquired angioedema with C1Inh deficiency skos:exactMatch Orphanet:528663 semapv:UnspecifiedMatching +GARD:22197 Acute bilirubin encephalopathy skos:exactMatch Orphanet:529799 semapv:UnspecifiedMatching +GARD:22198 Chronic bilirubin encephalopathy skos:exactMatch Orphanet:529808 semapv:UnspecifiedMatching +GARD:22199 Letrozole toxicity skos:exactMatch Orphanet:529831 semapv:UnspecifiedMatching +GARD:22200 Combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch Orphanet:529852 semapv:UnspecifiedMatching +GARD:22201 Secondary erythromelalgia skos:exactMatch Orphanet:529864 semapv:UnspecifiedMatching +GARD:22202 17q24.2 microdeletion syndrome skos:exactMatch Orphanet:529962 semapv:UnspecifiedMatching +GARD:22203 Immune dysregulation with inflammatory bowel disease skos:exactMatch Orphanet:529974 semapv:UnspecifiedMatching +GARD:22204 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:exactMatch Orphanet:529977 semapv:UnspecifiedMatching +GARD:22205 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:exactMatch Orphanet:529980 semapv:UnspecifiedMatching +GARD:22206 Dermoid or epidermoid cyst of the central nervous system skos:exactMatch Orphanet:530033 semapv:UnspecifiedMatching +GARD:22207 Progressive myoclonic epilepsy with neuroserpin inclusion bodies skos:exactMatch Orphanet:530298 semapv:UnspecifiedMatching +GARD:22208 Progressive dementia with neuroserpin inclusion bodies skos:exactMatch Orphanet:530303 semapv:UnspecifiedMatching +GARD:22209 PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 semapv:UnspecifiedMatching +GARD:2221 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:exactMatch Orphanet:1969 semapv:UnspecifiedMatching +GARD:22210 RELA fusion-positive ependymoma skos:exactMatch Orphanet:530792 semapv:UnspecifiedMatching +GARD:22211 Lamb-Shaffer syndrome skos:exactMatch Orphanet:530983 semapv:UnspecifiedMatching +GARD:22212 9q21.13 microdeletion syndrome skos:exactMatch Orphanet:531151 semapv:UnspecifiedMatching +GARD:22213 RASopathy skos:exactMatch Orphanet:536391 semapv:UnspecifiedMatching +GARD:22214 Spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536471 semapv:UnspecifiedMatching +GARD:22215 Myopathic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536516 semapv:UnspecifiedMatching +GARD:22216 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency skos:exactMatch Orphanet:1900 semapv:UnspecifiedMatching +GARD:22216 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency skos:narrowMatch OMIM:225400 semapv:UnspecifiedMatching +GARD:22217 PLG-related hereditary angioedema with normal C1Inh skos:exactMatch Orphanet:537072 semapv:UnspecifiedMatching +GARD:22218 Congenital axonal neuropathy with encephalopathy skos:exactMatch Orphanet:538101 semapv:UnspecifiedMatching +GARD:22219 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect skos:exactMatch Orphanet:538238 semapv:UnspecifiedMatching +GARD:2222 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch Orphanet:1970 semapv:UnspecifiedMatching +GARD:2222 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:narrowMatch OMIM:220219 semapv:UnspecifiedMatching +GARD:22220 Classic pyoderma gangrenosum skos:exactMatch Orphanet:538863 semapv:UnspecifiedMatching +GARD:22221 Pustular pyoderma gangrenosum skos:exactMatch Orphanet:538866 semapv:UnspecifiedMatching +GARD:22222 Bullous pyoderma gangrenosum skos:exactMatch Orphanet:538869 semapv:UnspecifiedMatching +GARD:22223 Vegetative pyoderma gangrenosum skos:exactMatch Orphanet:538872 semapv:UnspecifiedMatching +GARD:22224 Anomalous aortic origin of the left coronary artery skos:exactMatch Orphanet:541443 semapv:UnspecifiedMatching +GARD:22225 Anomalous aortic origin of the right coronary artery skos:exactMatch Orphanet:541454 semapv:UnspecifiedMatching +GARD:22226 Anomalous aortic origin of coronary artery skos:exactMatch Orphanet:541478 semapv:UnspecifiedMatching +GARD:22227 Anomalous origin of coronary artery from the pulmonary artery skos:exactMatch Orphanet:541507 semapv:UnspecifiedMatching +GARD:22228 CAR T cell therapy-associated cytokine release syndrome skos:exactMatch Orphanet:542323 semapv:UnspecifiedMatching +GARD:22229 Quadricuspid aortic valve skos:exactMatch Orphanet:542568 semapv:UnspecifiedMatching +GARD:22230 Anomaly of the coronary ostia skos:exactMatch Orphanet:542822 semapv:UnspecifiedMatching +GARD:22231 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:exactMatch Orphanet:543470 semapv:UnspecifiedMatching +GARD:22232 SYNGAP1-related developmental and epileptic encephalopathy skos:exactMatch Orphanet:544254 semapv:UnspecifiedMatching +GARD:22233 Hemolytic uremic syndrome skos:exactMatch Orphanet:544458 semapv:UnspecifiedMatching +GARD:22234 Infection-related hemolytic uremic syndrome skos:exactMatch Orphanet:544482 semapv:UnspecifiedMatching +GARD:22235 Streptococcus pneumoniae-associated hemolytic uremic syndrome skos:exactMatch Orphanet:544493 semapv:UnspecifiedMatching +GARD:22236 Congenital primary megaureter, refluxing and obstructed form skos:exactMatch Orphanet:544578 semapv:UnspecifiedMatching +GARD:22237 Collagen-related glomerular basement membrane disease skos:exactMatch Orphanet:544590 semapv:UnspecifiedMatching +GARD:22238 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:exactMatch Orphanet:544628 semapv:UnspecifiedMatching +GARD:22239 Fibrohistiocytic inflammatory pseudotumor of the liver skos:exactMatch Orphanet:555434 semapv:UnspecifiedMatching +GARD:22240 Lymphoplasmacytic inflammatory pseudotumor of the liver skos:exactMatch Orphanet:555437 semapv:UnspecifiedMatching +GARD:22241 Congenital tricuspid valve dysplasia skos:exactMatch Orphanet:555874 semapv:UnspecifiedMatching +GARD:22242 IgA pemphigus skos:exactMatch Orphanet:555905 semapv:UnspecifiedMatching +GARD:22243 Early-onset familial hypoaldosteronism skos:exactMatch Orphanet:556030 semapv:UnspecifiedMatching +GARD:22244 Late-onset familial hypoaldosteronism skos:exactMatch Orphanet:556037 semapv:UnspecifiedMatching +GARD:22245 Rare disorder due to poisoning skos:exactMatch Orphanet:556508 semapv:UnspecifiedMatching +GARD:22246 Early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:exactMatch Orphanet:556985 semapv:UnspecifiedMatching +GARD:22247 Spastic ataxia-dysarthria due to glutaminase deficiency skos:exactMatch Orphanet:557056 semapv:UnspecifiedMatching +GARD:22248 Rare disorder with Hirschsprung disease as a major feature skos:exactMatch Orphanet:557866 semapv:UnspecifiedMatching +GARD:22249 Idiopathic gastroparesis skos:exactMatch Orphanet:558411 semapv:UnspecifiedMatching +GARD:22250 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:exactMatch Orphanet:562639 semapv:UnspecifiedMatching +GARD:22251 Autoimmune hepatitis type 1 skos:exactMatch Orphanet:563576 semapv:UnspecifiedMatching +GARD:22252 Autoimmune hepatitis type 2 skos:exactMatch Orphanet:563581 semapv:UnspecifiedMatching +GARD:22253 Seronegative autoimmune hepatitis skos:exactMatch Orphanet:563589 semapv:UnspecifiedMatching +GARD:22254 Isolated anencephaly skos:exactMatch Orphanet:563609 semapv:UnspecifiedMatching +GARD:22255 Isolated exencephaly skos:exactMatch Orphanet:563612 semapv:UnspecifiedMatching +GARD:22256 Serous cystadenoma of childhood skos:exactMatch Orphanet:563666 semapv:UnspecifiedMatching +GARD:22257 Mucinous cystadenoma of childhood skos:exactMatch Orphanet:563671 semapv:UnspecifiedMatching +GARD:22258 Seromucinous cystadenoma of childhood skos:exactMatch Orphanet:563676 semapv:UnspecifiedMatching +GARD:22259 Furuncular myiasis due to Dermatobia hominis skos:exactMatch Orphanet:563684 semapv:UnspecifiedMatching +GARD:22260 Furuncular myiasis due to Cordylobia anthropophaga skos:exactMatch Orphanet:563687 semapv:UnspecifiedMatching +GARD:22261 Furuncular myiasis due to Cordylobia rodhaini skos:exactMatch Orphanet:563690 semapv:UnspecifiedMatching +GARD:22262 Syndromic congenital sodium diarrhea skos:exactMatch Orphanet:563708 semapv:UnspecifiedMatching +GARD:22263 Isolated congenital aglossia skos:exactMatch Orphanet:563951 semapv:UnspecifiedMatching +GARD:22264 Isolated congenital hypoglossia skos:exactMatch Orphanet:563954 semapv:UnspecifiedMatching +GARD:22265 Genetic nephrotic syndrome skos:exactMatch Orphanet:564127 semapv:UnspecifiedMatching +GARD:22266 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome skos:exactMatch Orphanet:564178 semapv:UnspecifiedMatching +GARD:22267 Triglyceride deposit cardiomyovasculopathy skos:exactMatch Orphanet:565612 semapv:UnspecifiedMatching +GARD:22268 Primary desmosis coli skos:exactMatch Orphanet:565641 semapv:UnspecifiedMatching +GARD:22269 Methotrexate toxicity skos:exactMatch Orphanet:565782 semapv:UnspecifiedMatching +GARD:22270 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 skos:exactMatch Orphanet:565837 semapv:UnspecifiedMatching +GARD:22271 POMGNT2-related limb-girdle muscular dystrophy R24 skos:exactMatch Orphanet:565899 semapv:UnspecifiedMatching +GARD:22272 Calpain-3-related limb-girdle muscular dystrophy D4 skos:exactMatch Orphanet:565909 semapv:UnspecifiedMatching +GARD:22273 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:exactMatch Orphanet:566067 semapv:UnspecifiedMatching +GARD:22274 Congenital autosomal recessive small-platelet thrombocytopenia skos:exactMatch Orphanet:566192 semapv:UnspecifiedMatching +GARD:22275 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:exactMatch Orphanet:566231 semapv:UnspecifiedMatching +GARD:22276 Acute mast cell leukemia skos:exactMatch Orphanet:566393 semapv:UnspecifiedMatching +GARD:22277 Chronic mast cell leukemia skos:exactMatch Orphanet:566396 semapv:UnspecifiedMatching +GARD:22278 Liver adenomatosis skos:exactMatch Orphanet:566841 semapv:UnspecifiedMatching +GARD:22279 Aprosencephaly/atelencephaly spectrum skos:exactMatch Orphanet:566847 semapv:UnspecifiedMatching +GARD:22280 Atelencephaly skos:exactMatch Orphanet:566852 semapv:UnspecifiedMatching +GARD:22281 Aprosencephaly skos:exactMatch Orphanet:566857 semapv:UnspecifiedMatching +GARD:22282 Left sided atrial isomerism skos:exactMatch Orphanet:566862 semapv:UnspecifiedMatching +GARD:22283 Mueller-Weiss syndrome skos:exactMatch Orphanet:566943 semapv:UnspecifiedMatching +GARD:22284 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch Orphanet:567502 semapv:UnspecifiedMatching +GARD:22285 Idiopathic non-lupus full-house nephropathy skos:exactMatch Orphanet:567544 semapv:UnspecifiedMatching +GARD:22286 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:exactMatch Orphanet:567546 semapv:UnspecifiedMatching +GARD:22287 Idiopathic multidrug-resistant nephrotic syndrome skos:exactMatch Orphanet:567550 semapv:UnspecifiedMatching +GARD:22288 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:exactMatch Orphanet:567552 semapv:UnspecifiedMatching +GARD:22289 Systemic disease with glomerulopathy as a major feature skos:exactMatch Orphanet:567554 semapv:UnspecifiedMatching +GARD:2229 Lethal faciocardiomelic dysplasia skos:exactMatch Orphanet:1972 semapv:UnspecifiedMatching +GARD:2229 Lethal faciocardiomelic dysplasia skos:narrowMatch OMIM:227270 semapv:UnspecifiedMatching +GARD:22290 Genetic systemic disease with glomerulopathy as a major feature skos:exactMatch Orphanet:567556 semapv:UnspecifiedMatching +GARD:22291 Non-genetic systemic disease with glomerulopathy as a major feature skos:exactMatch Orphanet:567558 semapv:UnspecifiedMatching +GARD:22292 Systemic vasculitis associated with glomerulopathy skos:exactMatch Orphanet:567560 semapv:UnspecifiedMatching +GARD:22293 Disorder with multisystemic involvement and glomerulopathy skos:exactMatch Orphanet:567562 semapv:UnspecifiedMatching +GARD:22294 Nephrotic syndrome without extrarenal manifestations skos:exactMatch Orphanet:567564 semapv:UnspecifiedMatching +GARD:22295 Parenteral nutrition-associated cholestasis skos:exactMatch Orphanet:567983 semapv:UnspecifiedMatching +GARD:22296 Primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 semapv:UnspecifiedMatching +GARD:22297 Primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 semapv:UnspecifiedMatching +GARD:22298 Disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 semapv:UnspecifiedMatching +GARD:22299 GJC2-related late-onset primary lymphedema skos:exactMatch Orphanet:568051 semapv:UnspecifiedMatching +GARD:223 Vestibular schwannoma skos:exactMatch Orphanet:252175 semapv:UnspecifiedMatching +GARD:2230 Faciocardiorenal syndrome skos:exactMatch Orphanet:1973 semapv:UnspecifiedMatching +GARD:2230 Faciocardiorenal syndrome skos:narrowMatch OMIM:227280 semapv:UnspecifiedMatching +GARD:22300 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:exactMatch Orphanet:568056 semapv:UnspecifiedMatching +GARD:22301 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:exactMatch Orphanet:568062 semapv:UnspecifiedMatching +GARD:22302 EPHB4-related lymphatic-related hydrops fetalis skos:exactMatch Orphanet:568065 semapv:UnspecifiedMatching +GARD:22303 Angiomatoid fibrous histiocytoma skos:exactMatch Orphanet:569164 semapv:UnspecifiedMatching +GARD:22304 Microcystic stromal tumor skos:exactMatch Orphanet:569248 semapv:UnspecifiedMatching +GARD:22305 Multiple mitochondrial dysfunctions syndrome type 5 skos:exactMatch Orphanet:569274 semapv:UnspecifiedMatching +GARD:22306 CELSR1-related late-onset primary lymphedema skos:exactMatch Orphanet:569816 semapv:UnspecifiedMatching +GARD:22307 Congenital primary lymphedema of Gordon skos:exactMatch Orphanet:569821 semapv:UnspecifiedMatching +GARD:22308 Bartter syndrome type 5 skos:exactMatch Orphanet:570371 semapv:UnspecifiedMatching +GARD:22309 Idiopathic multicentric Castleman disease skos:exactMatch Orphanet:570431 semapv:UnspecifiedMatching +GARD:22310 HHV-8-associated multicentric Castleman disease skos:exactMatch Orphanet:570438 semapv:UnspecifiedMatching +GARD:22311 Ricin poisoning skos:exactMatch Orphanet:570470 semapv:UnspecifiedMatching +GARD:22312 Blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:exactMatch Orphanet:572333 semapv:UnspecifiedMatching +GARD:22313 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia skos:exactMatch Orphanet:572428 semapv:UnspecifiedMatching +GARD:22314 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:exactMatch Orphanet:572761 semapv:UnspecifiedMatching +GARD:22315 Pheochromocytoma-paraganglioma skos:exactMatch Orphanet:573163 semapv:UnspecifiedMatching +GARD:22316 Split cord malformation type II skos:exactMatch Orphanet:573253 semapv:UnspecifiedMatching +GARD:22317 Split cord malformation skos:exactMatch Orphanet:573278 semapv:UnspecifiedMatching +GARD:22318 Predisposition to severe viral infection due to IRF7 deficiency skos:exactMatch Orphanet:574918 semapv:UnspecifiedMatching +GARD:22319 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency skos:exactMatch Orphanet:574957 semapv:UnspecifiedMatching +GARD:22320 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy skos:exactMatch Orphanet:575553 semapv:UnspecifiedMatching +GARD:22321 Middle East respiratory syndrome skos:exactMatch Orphanet:576074 semapv:UnspecifiedMatching +GARD:22322 Complete atrioventricular septal defect without ventricular hypoplasia skos:exactMatch Orphanet:576227 semapv:UnspecifiedMatching +GARD:22323 Partial atrioventricular septal defect with ventricular hypoplasia skos:exactMatch Orphanet:576232 semapv:UnspecifiedMatching +GARD:22324 Partial atrioventricular septal defect without ventricular hypoplasia skos:exactMatch Orphanet:576235 semapv:UnspecifiedMatching +GARD:22325 Intermediate atrioventricular septal defect skos:exactMatch Orphanet:576242 semapv:UnspecifiedMatching +GARD:22326 SATB2-associated syndrome skos:exactMatch Orphanet:576278 semapv:UnspecifiedMatching +GARD:22327 Sporadic human prion disease skos:exactMatch Orphanet:576356 semapv:UnspecifiedMatching +GARD:22328 Acquired human prion disease skos:exactMatch Orphanet:576360 semapv:UnspecifiedMatching +GARD:22329 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576379 semapv:UnspecifiedMatching +GARD:22330 Genetic hemolytic uremic syndrome skos:exactMatch Orphanet:576742 semapv:UnspecifiedMatching +GARD:22331 Intraductal tubulopapillary neoplasm of pancreas skos:exactMatch Orphanet:580572 semapv:UnspecifiedMatching +GARD:22332 Lethal brain and heart developmental defects skos:exactMatch Orphanet:580933 semapv:UnspecifiedMatching +GARD:22333 Congenital infiltrating lipomatosis of the face skos:exactMatch Orphanet:583097 semapv:UnspecifiedMatching +GARD:22334 Serine biosynthesis pathway deficiency, infantile/juvenile form skos:exactMatch Orphanet:583595 semapv:UnspecifiedMatching +GARD:22335 Neu-laxova syndrome due to phosphoserine aminotransferase deficiency skos:exactMatch Orphanet:583602 semapv:UnspecifiedMatching +GARD:22336 Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency skos:exactMatch Orphanet:583607 semapv:UnspecifiedMatching +GARD:22337 Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:exactMatch Orphanet:583612 semapv:UnspecifiedMatching +GARD:22338 Isolated splenic vein thrombosis skos:exactMatch Orphanet:583856 semapv:UnspecifiedMatching +GARD:22339 Isolated mesenteric vein thrombosis skos:exactMatch Orphanet:583861 semapv:UnspecifiedMatching +GARD:22340 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:585867 semapv:UnspecifiedMatching +GARD:22341 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:exactMatch Orphanet:585877 semapv:UnspecifiedMatching +GARD:22342 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:585909 semapv:UnspecifiedMatching +GARD:22343 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:exactMatch Orphanet:585918 semapv:UnspecifiedMatching +GARD:22344 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:exactMatch Orphanet:585929 semapv:UnspecifiedMatching +GARD:22345 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch Orphanet:585936 semapv:UnspecifiedMatching +GARD:22346 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch Orphanet:585942 semapv:UnspecifiedMatching +GARD:22347 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:exactMatch Orphanet:585948 semapv:UnspecifiedMatching +GARD:22348 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) skos:exactMatch Orphanet:585956 semapv:UnspecifiedMatching +GARD:22349 Sporadic fatal insomnia skos:exactMatch Orphanet:586130 semapv:UnspecifiedMatching +GARD:22350 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome skos:exactMatch Orphanet:589442 semapv:UnspecifiedMatching +GARD:22351 PUM1-associated developmental disability-ataxia-seizure syndrome skos:exactMatch Orphanet:589515 semapv:UnspecifiedMatching +GARD:22352 Spinocerebellar ataxia type 46 skos:exactMatch Orphanet:589522 semapv:UnspecifiedMatching +GARD:22353 Spinocerebellar ataxia type 45 skos:exactMatch Orphanet:589527 semapv:UnspecifiedMatching +GARD:22354 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:589534 semapv:UnspecifiedMatching +GARD:22355 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:exactMatch Orphanet:589542 semapv:UnspecifiedMatching +GARD:22356 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:exactMatch Orphanet:589547 semapv:UnspecifiedMatching +GARD:22357 Mixed phenotype acute leukemia with t(v;11q23.3) skos:exactMatch Orphanet:589595 semapv:UnspecifiedMatching +GARD:22358 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:exactMatch Orphanet:589608 semapv:UnspecifiedMatching +GARD:22359 Dystonia 28 skos:exactMatch Orphanet:589618 semapv:UnspecifiedMatching +GARD:22360 Inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 semapv:UnspecifiedMatching +GARD:22361 Congenital-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589821 semapv:UnspecifiedMatching +GARD:22362 Childhood-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589824 semapv:UnspecifiedMatching +GARD:22363 Juvenile-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589827 semapv:UnspecifiedMatching +GARD:22364 Adult-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589830 semapv:UnspecifiedMatching +GARD:22365 Late-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589833 semapv:UnspecifiedMatching +GARD:22366 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:exactMatch Orphanet:589856 semapv:UnspecifiedMatching +GARD:22367 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:exactMatch Orphanet:589905 semapv:UnspecifiedMatching +GARD:22368 Isolated melanotic schwannoma skos:exactMatch Orphanet:590539 semapv:UnspecifiedMatching +GARD:22369 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:exactMatch Orphanet:592564 semapv:UnspecifiedMatching +GARD:2237 Congenital factor V deficiency skos:exactMatch Orphanet:326 semapv:UnspecifiedMatching +GARD:2237 Congenital factor V deficiency skos:narrowMatch OMIM:227400 semapv:UnspecifiedMatching +GARD:22370 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome skos:exactMatch Orphanet:592570 semapv:UnspecifiedMatching +GARD:22371 Menke-Hennekam syndrome skos:exactMatch Orphanet:592574 semapv:UnspecifiedMatching +GARD:22372 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:exactMatch Orphanet:592850 semapv:UnspecifiedMatching +GARD:22373 Neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:exactMatch Orphanet:592856 semapv:UnspecifiedMatching +GARD:22374 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:exactMatch Orphanet:592869 semapv:UnspecifiedMatching +GARD:22375 Acute transverse myelitis with anti-MOG antibodies skos:exactMatch Orphanet:592873 semapv:UnspecifiedMatching +GARD:22376 Isolated optic neuritis without anti-MOG antibodies skos:exactMatch Orphanet:592885 semapv:UnspecifiedMatching +GARD:22377 Isolated optic neuritis with anti-MOG antibodies skos:exactMatch Orphanet:592888 semapv:UnspecifiedMatching +GARD:22378 Acute disseminated encephalomyelitis with anti-MOG antibodies skos:exactMatch Orphanet:592894 semapv:UnspecifiedMatching +GARD:22379 Acute disseminated encephalomyelitis without anti-MOG antibodies skos:exactMatch Orphanet:592900 semapv:UnspecifiedMatching +GARD:2238 Congenital factor VII deficiency skos:exactMatch Orphanet:327 semapv:UnspecifiedMatching +GARD:2238 Congenital factor VII deficiency skos:narrowMatch OMIM:227500 semapv:UnspecifiedMatching +GARD:22380 Timothy syndrome type 1 skos:exactMatch Orphanet:595098 semapv:UnspecifiedMatching +GARD:22381 Timothy syndrome type 2 skos:exactMatch Orphanet:595105 semapv:UnspecifiedMatching +GARD:22382 Atypical Timothy syndrome skos:exactMatch Orphanet:595109 semapv:UnspecifiedMatching +GARD:22383 Perivascular epithelioid cell neoplasm skos:exactMatch Orphanet:595133 semapv:UnspecifiedMatching +GARD:22384 Fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 semapv:UnspecifiedMatching +GARD:22385 Adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 semapv:UnspecifiedMatching +GARD:22386 Epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 semapv:UnspecifiedMatching +GARD:22387 Epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 semapv:UnspecifiedMatching +GARD:22388 Localized dystrophic epidermolysis bullosa skos:exactMatch Orphanet:595356 semapv:UnspecifiedMatching +GARD:22389 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis skos:exactMatch Orphanet:596008 semapv:UnspecifiedMatching +GARD:22390 Syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 semapv:UnspecifiedMatching +GARD:22391 IgG4-related systemic disease skos:exactMatch Orphanet:596448 semapv:UnspecifiedMatching +GARD:22392 Combined immunodeficiency due to RELA haploinsufficiency skos:exactMatch Orphanet:596759 semapv:UnspecifiedMatching +GARD:22393 Portosinusoidal vascular disease skos:exactMatch Orphanet:596937 semapv:UnspecifiedMatching +GARD:22394 Incomplete septal cirrhosis skos:exactMatch Orphanet:596941 semapv:UnspecifiedMatching +GARD:22395 TRIM22-related inflammatory bowel disease skos:exactMatch Orphanet:597201 semapv:UnspecifiedMatching +GARD:22396 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome skos:exactMatch Orphanet:597623 semapv:UnspecifiedMatching +GARD:22397 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:exactMatch Orphanet:597743 semapv:UnspecifiedMatching +GARD:22398 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:exactMatch Orphanet:597746 semapv:UnspecifiedMatching +GARD:22399 KAT6B-related multiple congenital anomalies syndrome skos:exactMatch Orphanet:597749 semapv:UnspecifiedMatching +GARD:224 Radio-renal syndrome skos:exactMatch Orphanet:3015 semapv:UnspecifiedMatching +GARD:224 Radio-renal syndrome skos:narrowMatch OMIM:179280 semapv:UnspecifiedMatching +GARD:22400 ALPI-related inflammatory bowel disease skos:exactMatch Orphanet:597887 semapv:UnspecifiedMatching +GARD:22401 Euthyroid dysprealbuminemic hyperthyroxinemia skos:exactMatch Orphanet:597939 semapv:UnspecifiedMatching +GARD:22402 FOXG1 syndrome due to intragenic alteration skos:exactMatch Orphanet:598164 semapv:UnspecifiedMatching +GARD:22403 Multisystem inflammatory syndrome in children and adults skos:exactMatch Orphanet:598363 semapv:UnspecifiedMatching +GARD:22404 STXBP1-related encephalopathy skos:exactMatch Orphanet:599373 semapv:UnspecifiedMatching +GARD:22405 Hypomyelination of early myelinating structures skos:exactMatch Orphanet:599376 semapv:UnspecifiedMatching +GARD:22406 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant skos:exactMatch Orphanet:599418 semapv:UnspecifiedMatching +GARD:22407 Acquired hemophilia B skos:exactMatch Orphanet:599485 semapv:UnspecifiedMatching +GARD:22408 Acquired factor V deficiency skos:exactMatch Orphanet:599490 semapv:UnspecifiedMatching +GARD:22409 Acquired factor VII deficiency skos:exactMatch Orphanet:599495 semapv:UnspecifiedMatching +GARD:22410 Acquired factor X deficiency skos:exactMatch Orphanet:599501 semapv:UnspecifiedMatching +GARD:22411 Acquired factor XI deficiency skos:exactMatch Orphanet:599507 semapv:UnspecifiedMatching +GARD:22412 Acquired factor XIII deficiency skos:exactMatch Orphanet:599513 semapv:UnspecifiedMatching +GARD:22413 Factor V short isoforms-related bleeding disorder skos:exactMatch Orphanet:599519 semapv:UnspecifiedMatching +GARD:22414 Factor V Amsterdam bleeding disorder skos:exactMatch Orphanet:599579 semapv:UnspecifiedMatching +GARD:22415 Factor V Atlanta bleeding disorder skos:exactMatch Orphanet:600194 semapv:UnspecifiedMatching +GARD:22416 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance skos:exactMatch Orphanet:600663 semapv:UnspecifiedMatching +GARD:22417 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:600668 semapv:UnspecifiedMatching +GARD:22418 Combined deficiency of factor VII and factor X skos:exactMatch Orphanet:600691 semapv:UnspecifiedMatching +GARD:22419 Legionellosis skos:exactMatch Orphanet:600832 semapv:UnspecifiedMatching +GARD:22420 Non-syndromic anorectal malformation with perineal fistula skos:exactMatch Orphanet:600952 semapv:UnspecifiedMatching +GARD:22421 Non-syndromic anorectal malformation with rectourethral fistula skos:exactMatch Orphanet:600961 semapv:UnspecifiedMatching +GARD:22422 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:exactMatch Orphanet:600966 semapv:UnspecifiedMatching +GARD:22423 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:exactMatch Orphanet:600975 semapv:UnspecifiedMatching +GARD:22424 Non-syndromic anorectal malformation with rectovesical fistula skos:exactMatch Orphanet:600984 semapv:UnspecifiedMatching +GARD:22425 Non-syndromic anorectal malformation with vestibular fistula skos:exactMatch Orphanet:600993 semapv:UnspecifiedMatching +GARD:22426 Non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 semapv:UnspecifiedMatching +GARD:22427 Non-syndromic anorectal malformation without fistula skos:exactMatch Orphanet:601002 semapv:UnspecifiedMatching +GARD:22428 Non-syndromic anorectal malformation with anal stenosis skos:exactMatch Orphanet:601008 semapv:UnspecifiedMatching +GARD:22429 Non-syndromic anorectal malformation with pouch colon skos:exactMatch Orphanet:601013 semapv:UnspecifiedMatching +GARD:22430 Non-syndromic anorectal malformation with rectal atresia skos:exactMatch Orphanet:601018 semapv:UnspecifiedMatching +GARD:22431 Non-syndromic anorectal malformation with rectal stenosis skos:exactMatch Orphanet:601023 semapv:UnspecifiedMatching +GARD:22432 Non-syndromic anorectal malformation with rectovaginal fistula skos:exactMatch Orphanet:601028 semapv:UnspecifiedMatching +GARD:22433 Non-syndromic anorectal malformation with H-type fistula skos:exactMatch Orphanet:601033 semapv:UnspecifiedMatching +GARD:22434 Isolated female hypospadias skos:exactMatch Orphanet:603515 semapv:UnspecifiedMatching +GARD:22435 KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome skos:exactMatch Orphanet:603684 semapv:UnspecifiedMatching +GARD:22436 KLHL7-related Bohring-Opitz-like syndrome skos:exactMatch Orphanet:603689 semapv:UnspecifiedMatching +GARD:22437 KLHL7-related cold-induced sweating-like syndrome skos:exactMatch Orphanet:603694 semapv:UnspecifiedMatching +GARD:22438 KLHL7-related disorder skos:exactMatch Orphanet:603699 semapv:UnspecifiedMatching +GARD:22439 Symptomatic form of X-linked centronuclear myopathy in female carriers skos:exactMatch Orphanet:604680 semapv:UnspecifiedMatching +GARD:22440 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 semapv:UnspecifiedMatching +GARD:22441 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 semapv:UnspecifiedMatching +GARD:22442 Granuloma faciale skos:exactMatch Orphanet:615943 semapv:UnspecifiedMatching +GARD:22443 Chronic intervillositis of unknown etiology skos:exactMatch Orphanet:615970 semapv:UnspecifiedMatching +GARD:22444 Rare disorder without a determined diagnosis after full investigation skos:exactMatch Orphanet:616874 semapv:UnspecifiedMatching +GARD:22445 Twin anemia-polycythemia sequence skos:exactMatch Orphanet:617294 semapv:UnspecifiedMatching +GARD:22446 Twin-reversed arterial perfusion sequence skos:exactMatch Orphanet:617297 semapv:UnspecifiedMatching +GARD:22447 Selective intrauterine growth restriction skos:exactMatch Orphanet:617301 semapv:UnspecifiedMatching +GARD:22448 Amniotic fluid embolism skos:exactMatch Orphanet:617304 semapv:UnspecifiedMatching +GARD:22449 Rare disorder related to monochorionic twin pregnancy skos:exactMatch Orphanet:617307 semapv:UnspecifiedMatching +GARD:2245 Tetralogy of Fallot skos:exactMatch Orphanet:3303 semapv:UnspecifiedMatching +GARD:2245 Tetralogy of Fallot skos:narrowMatch OMIM:187500 semapv:UnspecifiedMatching +GARD:2245 Tetralogy of Fallot skos:narrowMatch OMIM:618780 semapv:UnspecifiedMatching +GARD:22450 Rare disorder due to unbalanced inter-twin blood transfusion skos:exactMatch Orphanet:617310 semapv:UnspecifiedMatching +GARD:22451 Rare disorder due to inadequate sharing of the placenta skos:exactMatch Orphanet:617313 semapv:UnspecifiedMatching +GARD:22452 Classic eosinophilic pustular folliculitis skos:exactMatch Orphanet:617408 semapv:UnspecifiedMatching +GARD:22453 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch Orphanet:617449 semapv:UnspecifiedMatching +GARD:22454 F12-associated cold autoinflammatory syndrome skos:exactMatch Orphanet:617919 semapv:UnspecifiedMatching +GARD:22455 Hemophilia B Leyden skos:exactMatch Orphanet:617930 semapv:UnspecifiedMatching +GARD:22456 Chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:618891 semapv:UnspecifiedMatching +GARD:22457 Acid sphingomyelinase deficiency skos:exactMatch Orphanet:618899 semapv:UnspecifiedMatching +GARD:22458 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:exactMatch Orphanet:619233 semapv:UnspecifiedMatching +GARD:22459 Rare hereditary connective tissue disease skos:exactMatch Orphanet:619249 semapv:UnspecifiedMatching +GARD:22460 Narcolepsy skos:exactMatch Orphanet:619284 semapv:UnspecifiedMatching +GARD:22461 Inherited hematologic cancer-predisposing syndrome skos:exactMatch Orphanet:619340 semapv:UnspecifiedMatching +GARD:22462 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch Orphanet:619363 semapv:UnspecifiedMatching +GARD:22463 SAMD9L-associated autoinflammatory syndrome skos:exactMatch Orphanet:619367 semapv:UnspecifiedMatching +GARD:22464 Immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch Orphanet:619941 semapv:UnspecifiedMatching +GARD:22465 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch Orphanet:619948 semapv:UnspecifiedMatching +GARD:22466 Familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch Orphanet:619953 semapv:UnspecifiedMatching +GARD:22467 CADINS disease skos:exactMatch Orphanet:619972 semapv:UnspecifiedMatching +GARD:22468 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch Orphanet:619979 semapv:UnspecifiedMatching +GARD:22469 Non-syndromic unisutural craniosynostosis skos:exactMatch Orphanet:620096 semapv:UnspecifiedMatching +GARD:22470 Non-syndromic unicoronal craniosynostosis skos:exactMatch Orphanet:620102 semapv:UnspecifiedMatching +GARD:22471 Non-syndromic unilambdoid craniosynostosis skos:exactMatch Orphanet:620113 semapv:UnspecifiedMatching +GARD:22472 Non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch Orphanet:620139 semapv:UnspecifiedMatching +GARD:22473 Non-syndromic unisquamosal craniosynostosis skos:exactMatch Orphanet:620146 semapv:UnspecifiedMatching +GARD:22474 Non-syndromic multisutural craniosynostosis skos:exactMatch Orphanet:620152 semapv:UnspecifiedMatching +GARD:22475 Non-syndromic non-specific multisutural craniosynostosis skos:exactMatch Orphanet:620158 semapv:UnspecifiedMatching +GARD:22476 Non-syndromic bilambdoid craniosynostosis skos:exactMatch Orphanet:620178 semapv:UnspecifiedMatching +GARD:22477 Non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620186 semapv:UnspecifiedMatching +GARD:22478 Non-syndromic metopic and sagittal craniosynostosis skos:exactMatch Orphanet:620192 semapv:UnspecifiedMatching +GARD:22479 Non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch Orphanet:620198 semapv:UnspecifiedMatching +GARD:22480 Non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620205 semapv:UnspecifiedMatching +GARD:22481 Non-syndromic pansynostosis skos:exactMatch Orphanet:620212 semapv:UnspecifiedMatching +GARD:22482 Bartter syndrome type 1 skos:exactMatch Orphanet:620217 semapv:UnspecifiedMatching +GARD:22483 Bartter syndrome type 2 skos:exactMatch Orphanet:620220 semapv:UnspecifiedMatching +GARD:22484 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch Orphanet:620363 semapv:UnspecifiedMatching +GARD:22485 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch Orphanet:620368 semapv:UnspecifiedMatching +GARD:22486 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch Orphanet:620371 semapv:UnspecifiedMatching +GARD:22487 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:exactMatch Orphanet:621758 semapv:UnspecifiedMatching +GARD:22488 Genetic autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:622720 semapv:UnspecifiedMatching +GARD:22489 Rare genetic nevus skos:exactMatch Orphanet:622914 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:132900 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:607086 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:607087 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:609192 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:610168 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:611788 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:613780 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:614816 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:615436 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:615582 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:616166 semapv:UnspecifiedMatching +GARD:2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:617168 semapv:UnspecifiedMatching +GARD:22490 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:exactMatch Orphanet:622925 semapv:UnspecifiedMatching +GARD:22491 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch Orphanet:622934 semapv:UnspecifiedMatching +GARD:22492 Autoimmune limbic encephalitis skos:exactMatch Orphanet:623615 semapv:UnspecifiedMatching +GARD:22493 Paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 semapv:UnspecifiedMatching +GARD:22494 Immune-mediated cerebellar ataxia skos:exactMatch Orphanet:623638 semapv:UnspecifiedMatching +GARD:22495 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch Orphanet:623695 semapv:UnspecifiedMatching +GARD:22496 Body integrity dysphoria skos:exactMatch Orphanet:623789 semapv:UnspecifiedMatching +GARD:22497 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch Orphanet:624166 semapv:UnspecifiedMatching +GARD:22498 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch Orphanet:624178 semapv:UnspecifiedMatching +GARD:22499 Paraneoplastic isolated brainstem encephalitis skos:exactMatch Orphanet:624190 semapv:UnspecifiedMatching +GARD:225 Radial hemimelia skos:exactMatch Orphanet:93321 semapv:UnspecifiedMatching +GARD:2250 Band heterotopia skos:broadMatch Orphanet:99796 semapv:UnspecifiedMatching +GARD:2250 Band heterotopia skos:exactMatch OMIM:600348 semapv:UnspecifiedMatching +GARD:22500 Non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch Orphanet:624199 semapv:UnspecifiedMatching +GARD:22501 Non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch Orphanet:624216 semapv:UnspecifiedMatching +GARD:22502 Postinfectious cerebellitis skos:exactMatch Orphanet:624244 semapv:UnspecifiedMatching +GARD:22503 Non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch Orphanet:624259 semapv:UnspecifiedMatching +GARD:22504 Non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:exactMatch Orphanet:624268 semapv:UnspecifiedMatching +GARD:22505 Rare teratologic disease skos:exactMatch Orphanet:52662 semapv:UnspecifiedMatching +GARD:22506 Rare hepatic disease skos:exactMatch Orphanet:57146 semapv:UnspecifiedMatching +GARD:22507 Rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 semapv:UnspecifiedMatching +GARD:22508 Rare inborn errors of metabolism skos:exactMatch Orphanet:68367 semapv:UnspecifiedMatching +GARD:22509 Rare infectious disease skos:exactMatch Orphanet:68416 semapv:UnspecifiedMatching +GARD:22510 Rare skin disease skos:exactMatch Orphanet:89826 semapv:UnspecifiedMatching +GARD:22511 Rare bone disease skos:exactMatch Orphanet:93419 semapv:UnspecifiedMatching +GARD:22512 Rare renal disease skos:exactMatch Orphanet:93626 semapv:UnspecifiedMatching +GARD:22513 Rare developmental defect during embryogenesis skos:exactMatch Orphanet:93890 semapv:UnspecifiedMatching +GARD:22514 Rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 semapv:UnspecifiedMatching +GARD:22515 Rare cardiac disease skos:exactMatch Orphanet:97929 semapv:UnspecifiedMatching +GARD:22516 Rare gastroenterologic disease skos:exactMatch Orphanet:97935 semapv:UnspecifiedMatching +GARD:22517 Rare respiratory disease skos:exactMatch Orphanet:97955 semapv:UnspecifiedMatching +GARD:22518 Rare surgical thoracic disease skos:exactMatch Orphanet:97962 semapv:UnspecifiedMatching +GARD:22519 Rare surgical cardiac disease skos:exactMatch Orphanet:97965 semapv:UnspecifiedMatching +GARD:2252 Non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:467 semapv:UnspecifiedMatching +GARD:22520 Rare ophthalmic disorder skos:exactMatch Orphanet:97966 semapv:UnspecifiedMatching +GARD:22521 Rare endocrine disease skos:exactMatch Orphanet:97978 semapv:UnspecifiedMatching +GARD:22522 Rare hematologic disease skos:exactMatch Orphanet:97992 semapv:UnspecifiedMatching +GARD:22523 Rare immune disease skos:exactMatch Orphanet:98004 semapv:UnspecifiedMatching +GARD:22524 Rare neurologic disease skos:exactMatch Orphanet:98006 semapv:UnspecifiedMatching +GARD:22525 Rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 semapv:UnspecifiedMatching +GARD:22526 Rare odontologic disease skos:exactMatch Orphanet:98026 semapv:UnspecifiedMatching +GARD:22527 Rare circulatory system disease skos:exactMatch Orphanet:98028 semapv:UnspecifiedMatching +GARD:22528 Rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 semapv:UnspecifiedMatching +GARD:22529 Rare infertility skos:exactMatch Orphanet:98047 semapv:UnspecifiedMatching +GARD:22530 Rare allergic disease skos:exactMatch Orphanet:98050 semapv:UnspecifiedMatching +GARD:22531 Rare genetic disease skos:exactMatch Orphanet:98053 semapv:UnspecifiedMatching +GARD:22532 Rare urogenital disease skos:exactMatch Orphanet:101433 semapv:UnspecifiedMatching +GARD:22533 Rare disorder due to toxic effects skos:exactMatch Orphanet:108999 semapv:UnspecifiedMatching +GARD:22534 Rare abdominal surgical disease skos:exactMatch Orphanet:165711 semapv:UnspecifiedMatching +GARD:22535 Rare neoplastic disease skos:exactMatch Orphanet:250908 semapv:UnspecifiedMatching +GARD:22536 Rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 semapv:UnspecifiedMatching +GARD:22537 Intellectual developmental disorder, autosomal recessive 1 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22537 Intellectual developmental disorder, autosomal recessive 1 skos:exactMatch OMIM:249500 semapv:UnspecifiedMatching +GARD:22538 Intellectual developmental disorder, autosomal recessive 2 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22538 Intellectual developmental disorder, autosomal recessive 2 skos:exactMatch OMIM:607417 semapv:UnspecifiedMatching +GARD:22539 Intellectual developmental disorder, autosomal recessive 3 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22539 Intellectual developmental disorder, autosomal recessive 3 skos:exactMatch OMIM:608443 semapv:UnspecifiedMatching +GARD:2254 Familial nasal acilia skos:exactMatch Orphanet:922 semapv:UnspecifiedMatching +GARD:22540 Intellectual developmental disorder, autosomal recessive 12 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22540 Intellectual developmental disorder, autosomal recessive 12 skos:exactMatch OMIM:611090 semapv:UnspecifiedMatching +GARD:22541 Intellectual developmental disorder, autosomal recessive 5 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22541 Intellectual developmental disorder, autosomal recessive 5 skos:exactMatch OMIM:611091 semapv:UnspecifiedMatching +GARD:22542 Intellectual developmental disorder, autosomal recessive 6 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22542 Intellectual developmental disorder, autosomal recessive 6 skos:exactMatch OMIM:611092 semapv:UnspecifiedMatching +GARD:22543 Intellectual developmental disorder, autosomal recessive 7 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22543 Intellectual developmental disorder, autosomal recessive 7 skos:exactMatch OMIM:611093 semapv:UnspecifiedMatching +GARD:22544 Intellectual developmental disorder, autosomal recessive 9 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22544 Intellectual developmental disorder, autosomal recessive 9 skos:exactMatch OMIM:611095 semapv:UnspecifiedMatching +GARD:22545 Intellectual developmental disorder, autosomal recessive 10 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22545 Intellectual developmental disorder, autosomal recessive 10 skos:exactMatch OMIM:611096 semapv:UnspecifiedMatching +GARD:22546 Intellectual developmental disorder, autosomal recessive 11 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22546 Intellectual developmental disorder, autosomal recessive 11 skos:exactMatch OMIM:611097 semapv:UnspecifiedMatching +GARD:22547 Intellectual developmental disorder, autosomal recessive 4 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22547 Intellectual developmental disorder, autosomal recessive 4 skos:exactMatch OMIM:611107 semapv:UnspecifiedMatching +GARD:22548 Intellectual developmental disorder, autosomal recessive 13 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22548 Intellectual developmental disorder, autosomal recessive 13 skos:exactMatch OMIM:613192 semapv:UnspecifiedMatching +GARD:22549 Intellectual developmental disorder, autosomal recessive 14 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22549 Intellectual developmental disorder, autosomal recessive 14 skos:exactMatch OMIM:614020 semapv:UnspecifiedMatching +GARD:22550 Rafiq syndrome skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22550 Rafiq syndrome skos:exactMatch OMIM:614202 semapv:UnspecifiedMatching +GARD:22551 Intellectual developmental disorder, autosomal recessive 16 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22551 Intellectual developmental disorder, autosomal recessive 16 skos:exactMatch OMIM:614208 semapv:UnspecifiedMatching +GARD:22552 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22552 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy skos:exactMatch OMIM:614249 semapv:UnspecifiedMatching +GARD:22553 Intellectual developmental disorder, autosomal recessive 31 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22553 Intellectual developmental disorder, autosomal recessive 31 skos:exactMatch OMIM:614329 semapv:UnspecifiedMatching +GARD:22554 Intellectual developmental disorder, autosomal recessive 29 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22554 Intellectual developmental disorder, autosomal recessive 29 skos:exactMatch OMIM:614333 semapv:UnspecifiedMatching +GARD:22555 Intellectual developmental disorder, autosomal recessive 27 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22555 Intellectual developmental disorder, autosomal recessive 27 skos:exactMatch OMIM:614340 semapv:UnspecifiedMatching +GARD:22556 Intellectual developmental disorder, autosomal recessive 33 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22556 Intellectual developmental disorder, autosomal recessive 33 skos:exactMatch OMIM:614341 semapv:UnspecifiedMatching +GARD:22557 Intellectual developmental disorder, autosomal recessive 30 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22557 Intellectual developmental disorder, autosomal recessive 30 skos:exactMatch OMIM:614342 semapv:UnspecifiedMatching +GARD:22558 Intellectual developmental disorder, autosomal recessive 19 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22558 Intellectual developmental disorder, autosomal recessive 19 skos:exactMatch OMIM:614343 semapv:UnspecifiedMatching +GARD:22559 Intellectual developmental disorder, autosomal recessive 23 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22559 Intellectual developmental disorder, autosomal recessive 23 skos:exactMatch OMIM:614344 semapv:UnspecifiedMatching +GARD:2256 Polydactyly of an index finger skos:exactMatch Orphanet:93337 semapv:UnspecifiedMatching +GARD:2256 Polydactyly of an index finger skos:narrowMatch OMIM:174600 semapv:UnspecifiedMatching +GARD:22560 Intellectual developmental disorder, autosomal recessive 24 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22560 Intellectual developmental disorder, autosomal recessive 24 skos:exactMatch OMIM:614345 semapv:UnspecifiedMatching +GARD:22561 Intellectual developmental disorder, autosomal recessive 25 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22561 Intellectual developmental disorder, autosomal recessive 25 skos:exactMatch OMIM:614346 semapv:UnspecifiedMatching +GARD:22562 Intellectual developmental disorder, autosomal recessive 28 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22562 Intellectual developmental disorder, autosomal recessive 28 skos:exactMatch OMIM:614347 semapv:UnspecifiedMatching +GARD:22563 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22563 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly skos:exactMatch OMIM:614499 semapv:UnspecifiedMatching +GARD:22564 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22564 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities skos:exactMatch OMIM:615802 semapv:UnspecifiedMatching +GARD:22565 Intellectual developmental disorder, autosomal recessive 43 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22565 Intellectual developmental disorder, autosomal recessive 43 skos:exactMatch OMIM:615817 semapv:UnspecifiedMatching +GARD:22566 Intellectual developmental disorder, autosomal recessive 44 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22566 Intellectual developmental disorder, autosomal recessive 44 skos:exactMatch OMIM:615942 semapv:UnspecifiedMatching +GARD:22567 Intellectual developmental disorder, autosomal recessive 45 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22567 Intellectual developmental disorder, autosomal recessive 45 skos:exactMatch OMIM:615979 semapv:UnspecifiedMatching +GARD:22568 Intellectual developmental disorder, autosomal recessive 46 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22568 Intellectual developmental disorder, autosomal recessive 46 skos:exactMatch OMIM:616116 semapv:UnspecifiedMatching +GARD:22569 Intellectual developmental disorder, autosomal recessive 47 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22569 Intellectual developmental disorder, autosomal recessive 47 skos:exactMatch OMIM:616193 semapv:UnspecifiedMatching +GARD:2257 Autosomal dominant epilepsy with auditory features skos:exactMatch Orphanet:101046 semapv:UnspecifiedMatching +GARD:2257 Autosomal dominant epilepsy with auditory features skos:narrowMatch OMIM:600512 semapv:UnspecifiedMatching +GARD:2257 Autosomal dominant epilepsy with auditory features skos:narrowMatch OMIM:616436 semapv:UnspecifiedMatching +GARD:2257 Autosomal dominant epilepsy with auditory features skos:narrowMatch OMIM:616461 semapv:UnspecifiedMatching +GARD:22570 Intellectual developmental disorder, autosomal recessive 50 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22570 Intellectual developmental disorder, autosomal recessive 50 skos:exactMatch OMIM:616460 semapv:UnspecifiedMatching +GARD:22571 Intellectual developmental disorder, autosomal recessive 51 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22571 Intellectual developmental disorder, autosomal recessive 51 skos:exactMatch OMIM:616739 semapv:UnspecifiedMatching +GARD:22572 Intellectual developmental disorder, autosomal recessive 52 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22572 Intellectual developmental disorder, autosomal recessive 52 skos:exactMatch OMIM:616887 semapv:UnspecifiedMatching +GARD:22573 Intellectual developmental disorder, autosomal recessive 54 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22573 Intellectual developmental disorder, autosomal recessive 54 skos:exactMatch OMIM:617028 semapv:UnspecifiedMatching +GARD:22574 Intellectual developmental disorder, autosomal recessive 56 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22574 Intellectual developmental disorder, autosomal recessive 56 skos:exactMatch OMIM:617125 semapv:UnspecifiedMatching +GARD:22575 Intellectual developmental disorder, autosomal recessive 57 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22575 Intellectual developmental disorder, autosomal recessive 57 skos:exactMatch OMIM:617188 semapv:UnspecifiedMatching +GARD:22576 Neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22576 Neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:exactMatch OMIM:617709 semapv:UnspecifiedMatching +GARD:22577 Glycosylphosphatidylinositol biosynthesis defect 16 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22577 Glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch OMIM:617816 semapv:UnspecifiedMatching +GARD:22578 Intellectual developmental disorder, autosomal recessive 65 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22578 Intellectual developmental disorder, autosomal recessive 65 skos:exactMatch OMIM:618109 semapv:UnspecifiedMatching +GARD:22579 Intellectual developmental disorder, autosomal recessive 66 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22579 Intellectual developmental disorder, autosomal recessive 66 skos:exactMatch OMIM:618221 semapv:UnspecifiedMatching +GARD:2258 Familial porencephaly skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching +GARD:2258 Familial porencephaly skos:narrowMatch OMIM:175780 semapv:UnspecifiedMatching +GARD:2258 Familial porencephaly skos:narrowMatch OMIM:614483 semapv:UnspecifiedMatching +GARD:22580 Intellectual developmental disorder, autosomal recessive 70 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22580 Intellectual developmental disorder, autosomal recessive 70 skos:exactMatch OMIM:618402 semapv:UnspecifiedMatching +GARD:22581 Intellectual developmental disorder with short stature and behavioral abnormalities skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +GARD:22581 Intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch OMIM:618687 semapv:UnspecifiedMatching +GARD:22582 Deafness, autosomal recessive 2 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22582 Deafness, autosomal recessive 2 skos:exactMatch OMIM:600060 semapv:UnspecifiedMatching +GARD:22583 Deafness, autosomal recessive 3 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22583 Deafness, autosomal recessive 3 skos:exactMatch OMIM:600316 semapv:UnspecifiedMatching +GARD:22584 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22584 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct skos:exactMatch OMIM:600791 semapv:UnspecifiedMatching +GARD:22585 Deafness, autosomal recessive 5 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22585 Deafness, autosomal recessive 5 skos:exactMatch OMIM:600792 semapv:UnspecifiedMatching +GARD:22586 Deafness, autosomal recessive 6 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22586 Deafness, autosomal recessive 6 skos:exactMatch OMIM:600971 semapv:UnspecifiedMatching +GARD:22587 Deafness, autosomal recessive 7 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22587 Deafness, autosomal recessive 7 skos:exactMatch OMIM:600974 semapv:UnspecifiedMatching +GARD:22588 Deafness, autosomal recessive 9 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22588 Deafness, autosomal recessive 9 skos:exactMatch OMIM:601071 semapv:UnspecifiedMatching +GARD:22589 Deafness, autosomal recessive 8 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22589 Deafness, autosomal recessive 8 skos:exactMatch OMIM:601072 semapv:UnspecifiedMatching +GARD:2259 Familial supernumerary nipples skos:exactMatch Orphanet:2456 semapv:UnspecifiedMatching +GARD:2259 Familial supernumerary nipples skos:narrowMatch OMIM:163700 semapv:UnspecifiedMatching +GARD:22590 Deafness, autosomal recessive 12 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22590 Deafness, autosomal recessive 12 skos:exactMatch OMIM:601386 semapv:UnspecifiedMatching +GARD:22591 Deafness, autosomal recessive 15 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22591 Deafness, autosomal recessive 15 skos:exactMatch OMIM:601869 semapv:UnspecifiedMatching +GARD:22592 Deafness, autosomal recessive 18a skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22592 Deafness, autosomal recessive 18a skos:exactMatch OMIM:602092 semapv:UnspecifiedMatching +GARD:22593 Deafness, autosomal recessive 17 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22593 Deafness, autosomal recessive 17 skos:exactMatch OMIM:603010 semapv:UnspecifiedMatching +GARD:22594 Deafness, autosomal recessive 13 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22594 Deafness, autosomal recessive 13 skos:exactMatch OMIM:603098 semapv:UnspecifiedMatching +GARD:22595 Deafness, autosomal recessive 21 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22595 Deafness, autosomal recessive 21 skos:exactMatch OMIM:603629 semapv:UnspecifiedMatching +GARD:22596 Deafness, autosomal recessive 14 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22596 Deafness, autosomal recessive 14 skos:exactMatch OMIM:603678 semapv:UnspecifiedMatching +GARD:22597 Deafness, autosomal recessive 16 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22597 Deafness, autosomal recessive 16 skos:exactMatch OMIM:603720 semapv:UnspecifiedMatching +GARD:22598 Deafness, autosomal recessive 20 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22598 Deafness, autosomal recessive 20 skos:exactMatch OMIM:604060 semapv:UnspecifiedMatching +GARD:22599 Deafness, autosomal recessive 26 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22599 Deafness, autosomal recessive 26 skos:exactMatch OMIM:605428 semapv:UnspecifiedMatching +GARD:226 Rabson-Mendenhall syndrome skos:exactMatch Orphanet:769 semapv:UnspecifiedMatching +GARD:226 Rabson-Mendenhall syndrome skos:narrowMatch OMIM:262190 semapv:UnspecifiedMatching +GARD:22600 Deafness, autosomal recessive 27 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22600 Deafness, autosomal recessive 27 skos:exactMatch OMIM:605818 semapv:UnspecifiedMatching +GARD:22601 Deafness, autosomal recessive 22 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22601 Deafness, autosomal recessive 22 skos:exactMatch OMIM:607039 semapv:UnspecifiedMatching +GARD:22602 Deafness, autosomal recessive 31 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22602 Deafness, autosomal recessive 31 skos:exactMatch OMIM:607084 semapv:UnspecifiedMatching +GARD:22603 Deafness, autosomal recessive 30 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22603 Deafness, autosomal recessive 30 skos:exactMatch OMIM:607101 semapv:UnspecifiedMatching +GARD:22604 Deafness, autosomal recessive 33 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22604 Deafness, autosomal recessive 33 skos:exactMatch OMIM:607239 semapv:UnspecifiedMatching +GARD:22605 Deafness, autosomal recessive 37 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22605 Deafness, autosomal recessive 37 skos:exactMatch OMIM:607821 semapv:UnspecifiedMatching +GARD:22606 Deafness, autosomal recessive 38 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22606 Deafness, autosomal recessive 38 skos:exactMatch OMIM:608219 semapv:UnspecifiedMatching +GARD:22607 Deafness, autosomal recessive 40 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22607 Deafness, autosomal recessive 40 skos:exactMatch OMIM:608264 semapv:UnspecifiedMatching +GARD:22608 Deafness, autosomal recessive 39 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22608 Deafness, autosomal recessive 39 skos:exactMatch OMIM:608265 semapv:UnspecifiedMatching +GARD:22609 Deafness, autosomal recessive 35 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22609 Deafness, autosomal recessive 35 skos:exactMatch OMIM:608565 semapv:UnspecifiedMatching +GARD:22610 Deafness, autosomal recessive 32, with or without immotile sperm skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22610 Deafness, autosomal recessive 32, with or without immotile sperm skos:exactMatch OMIM:608653 semapv:UnspecifiedMatching +GARD:22611 Deafness, autosomal recessive 36, with or without vestibular involvement skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22611 Deafness, autosomal recessive 36, with or without vestibular involvement skos:exactMatch OMIM:609006 semapv:UnspecifiedMatching +GARD:22612 Deafness, autosomal recessive 48 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22612 Deafness, autosomal recessive 48 skos:exactMatch OMIM:609439 semapv:UnspecifiedMatching +GARD:22613 Deafness, autosomal recessive 23 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22613 Deafness, autosomal recessive 23 skos:exactMatch OMIM:609533 semapv:UnspecifiedMatching +GARD:22614 Deafness, autosomal recessive 42 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22614 Deafness, autosomal recessive 42 skos:exactMatch OMIM:609646 semapv:UnspecifiedMatching +GARD:22615 Deafness, autosomal recessive 46 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22615 Deafness, autosomal recessive 46 skos:exactMatch OMIM:609647 semapv:UnspecifiedMatching +GARD:22616 Deafness, autosomal recessive 53 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22616 Deafness, autosomal recessive 53 skos:exactMatch OMIM:609706 semapv:UnspecifiedMatching +GARD:22617 Deafness, autosomal recessive 28 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22617 Deafness, autosomal recessive 28 skos:exactMatch OMIM:609823 semapv:UnspecifiedMatching +GARD:22618 Deafness, autosomal recessive 62 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22618 Deafness, autosomal recessive 62 skos:exactMatch OMIM:610143 semapv:UnspecifiedMatching +GARD:22619 Deafness, autosomal recessive 49 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22619 Deafness, autosomal recessive 49 skos:exactMatch OMIM:610153 semapv:UnspecifiedMatching +GARD:22620 Deafness, autosomal recessive 44 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22620 Deafness, autosomal recessive 44 skos:exactMatch OMIM:610154 semapv:UnspecifiedMatching +GARD:22621 Deafness, autosomal recessive 66 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22621 Deafness, autosomal recessive 66 skos:exactMatch OMIM:610212 semapv:UnspecifiedMatching +GARD:22622 Deafness, autosomal recessive 59 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22622 Deafness, autosomal recessive 59 skos:exactMatch OMIM:610220 semapv:UnspecifiedMatching +GARD:22623 Deafness, autosomal recessive 65 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22623 Deafness, autosomal recessive 65 skos:exactMatch OMIM:610248 semapv:UnspecifiedMatching +GARD:22624 Deafness, autosomal recessive 67 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22624 Deafness, autosomal recessive 67 skos:exactMatch OMIM:610265 semapv:UnspecifiedMatching +GARD:22625 Deafness, autosomal recessive 68 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22625 Deafness, autosomal recessive 68 skos:exactMatch OMIM:610419 semapv:UnspecifiedMatching +GARD:22626 Deafness, autosomal recessive 24 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22626 Deafness, autosomal recessive 24 skos:exactMatch OMIM:611022 semapv:UnspecifiedMatching +GARD:22627 Deafness, autosomal recessive 63 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22627 Deafness, autosomal recessive 63 skos:exactMatch OMIM:611451 semapv:UnspecifiedMatching +GARD:22628 Deafness, autosomal recessive 45 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22628 Deafness, autosomal recessive 45 skos:exactMatch OMIM:612433 semapv:UnspecifiedMatching +GARD:22629 Deafness, autosomal recessive 1b skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22629 Deafness, autosomal recessive 1b skos:exactMatch OMIM:612645 semapv:UnspecifiedMatching +GARD:22630 Deafness, autosomal recessive 71 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22630 Deafness, autosomal recessive 71 skos:exactMatch OMIM:612789 semapv:UnspecifiedMatching +GARD:22631 Deafness, autosomal recessive 77 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22631 Deafness, autosomal recessive 77 skos:exactMatch OMIM:613079 semapv:UnspecifiedMatching +GARD:22632 Deafness, autosomal recessive 25 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22632 Deafness, autosomal recessive 25 skos:exactMatch OMIM:613285 semapv:UnspecifiedMatching +GARD:22633 Deafness, autosomal recessive 79 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22633 Deafness, autosomal recessive 79 skos:exactMatch OMIM:613307 semapv:UnspecifiedMatching +GARD:22634 Deafness, autosomal recessive 84a skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22634 Deafness, autosomal recessive 84a skos:exactMatch OMIM:613391 semapv:UnspecifiedMatching +GARD:22635 Deafness, autosomal recessive 85 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22635 Deafness, autosomal recessive 85 skos:exactMatch OMIM:613392 semapv:UnspecifiedMatching +GARD:22636 Deafness, autosomal recessive 91 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22636 Deafness, autosomal recessive 91 skos:exactMatch OMIM:613453 semapv:UnspecifiedMatching +GARD:22637 Deafness, autosomal recessive 83 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22637 Deafness, autosomal recessive 83 skos:exactMatch OMIM:613685 semapv:UnspecifiedMatching +GARD:22638 Deafness, autosomal recessive 74 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22638 Deafness, autosomal recessive 74 skos:exactMatch OMIM:613718 semapv:UnspecifiedMatching +GARD:22639 Deafness, autosomal recessive 61 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22639 Deafness, autosomal recessive 61 skos:exactMatch OMIM:613865 semapv:UnspecifiedMatching +GARD:22640 Deafness, autosomal recessive 89 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22640 Deafness, autosomal recessive 89 skos:exactMatch OMIM:613916 semapv:UnspecifiedMatching +GARD:22641 Deafness, autosomal recessive 29 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22641 Deafness, autosomal recessive 29 skos:exactMatch OMIM:614035 semapv:UnspecifiedMatching +GARD:22642 Deafness, autosomal recessive 96 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22642 Deafness, autosomal recessive 96 skos:exactMatch OMIM:614414 semapv:UnspecifiedMatching +GARD:22643 Deafness, autosomal recessive 86 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22643 Deafness, autosomal recessive 86 skos:exactMatch OMIM:614617 semapv:UnspecifiedMatching +GARD:22644 Deafness, autosomal recessive 98 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22644 Deafness, autosomal recessive 98 skos:exactMatch OMIM:614861 semapv:UnspecifiedMatching +GARD:22645 Deafness, autosomal recessive 93 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22645 Deafness, autosomal recessive 93 skos:exactMatch OMIM:614899 semapv:UnspecifiedMatching +GARD:22646 Deafness, autosomal recessive 70 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22646 Deafness, autosomal recessive 70 skos:exactMatch OMIM:614934 semapv:UnspecifiedMatching +GARD:22647 Deafness, autosomal recessive 84b skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22647 Deafness, autosomal recessive 84b skos:exactMatch OMIM:614944 semapv:UnspecifiedMatching +GARD:22648 Deafness, autosomal recessive 18b skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22648 Deafness, autosomal recessive 18b skos:exactMatch OMIM:614945 semapv:UnspecifiedMatching +GARD:22649 Deafness, autosomal recessive 88 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22649 Deafness, autosomal recessive 88 skos:exactMatch OMIM:615429 semapv:UnspecifiedMatching +GARD:22650 Deafness, autosomal recessive 76 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22650 Deafness, autosomal recessive 76 skos:exactMatch OMIM:615540 semapv:UnspecifiedMatching +GARD:22651 Deafness, autosomal recessive 101 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22651 Deafness, autosomal recessive 101 skos:exactMatch OMIM:615837 semapv:UnspecifiedMatching +GARD:22652 Deafness, autosomal recessive 102 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22652 Deafness, autosomal recessive 102 skos:exactMatch OMIM:615974 semapv:UnspecifiedMatching +GARD:22653 Deafness, autosomal recessive 103 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22653 Deafness, autosomal recessive 103 skos:exactMatch OMIM:616042 semapv:UnspecifiedMatching +GARD:22654 Deafness, autosomal recessive 104 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22654 Deafness, autosomal recessive 104 skos:exactMatch OMIM:616515 semapv:UnspecifiedMatching +GARD:22655 Deafness, autosomal recessive 97 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22655 Deafness, autosomal recessive 97 skos:exactMatch OMIM:616705 semapv:UnspecifiedMatching +GARD:22656 Deafness, autosomal recessive 106 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22656 Deafness, autosomal recessive 106 skos:exactMatch OMIM:617637 semapv:UnspecifiedMatching +GARD:22657 Deafness, autosomal recessive 107 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22657 Deafness, autosomal recessive 107 skos:exactMatch OMIM:617639 semapv:UnspecifiedMatching +GARD:22658 Deafness, autosomal recessive 108 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22658 Deafness, autosomal recessive 108 skos:exactMatch OMIM:617654 semapv:UnspecifiedMatching +GARD:22659 Deafness, autosomal recessive 111 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22659 Deafness, autosomal recessive 111 skos:exactMatch OMIM:618145 semapv:UnspecifiedMatching +GARD:22660 Deafness, autosomal recessive 100 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22660 Deafness, autosomal recessive 100 skos:exactMatch OMIM:618422 semapv:UnspecifiedMatching +GARD:22661 Deafness, autosomal recessive 94 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22661 Deafness, autosomal recessive 94 skos:exactMatch OMIM:618434 semapv:UnspecifiedMatching +GARD:22662 Deafness, autosomal recessive 114 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22662 Deafness, autosomal recessive 114 skos:exactMatch OMIM:618456 semapv:UnspecifiedMatching +GARD:22663 Deafness, autosomal recessive 99 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22663 Deafness, autosomal recessive 99 skos:exactMatch OMIM:618481 semapv:UnspecifiedMatching +GARD:22664 Deafness, autosomal recessive 116 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22664 Deafness, autosomal recessive 116 skos:exactMatch OMIM:619093 semapv:UnspecifiedMatching +GARD:22665 Deafness, autosomal recessive 117 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:22665 Deafness, autosomal recessive 117 skos:exactMatch OMIM:619174 semapv:UnspecifiedMatching +GARD:22666 Intellectual developmental disorder, x-linked 23 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22666 Intellectual developmental disorder, x-linked 23 skos:exactMatch OMIM:300046 semapv:UnspecifiedMatching +GARD:22667 Intellectual developmental disorder, x-linked 20 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22667 Intellectual developmental disorder, x-linked 20 skos:exactMatch OMIM:300047 semapv:UnspecifiedMatching +GARD:22668 Intellectual developmental disorder, x-linked 50 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22668 Intellectual developmental disorder, x-linked 50 skos:exactMatch OMIM:300115 semapv:UnspecifiedMatching +GARD:22669 Intellectual developmental disorder, x-linked 21 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22669 Intellectual developmental disorder, x-linked 21 skos:exactMatch OMIM:300143 semapv:UnspecifiedMatching +GARD:22670 Intellectual developmental disorder, x-linked 58 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22670 Intellectual developmental disorder, x-linked 58 skos:exactMatch OMIM:300210 semapv:UnspecifiedMatching +GARD:22671 Intellectual developmental disorder, x-linked 72 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22671 Intellectual developmental disorder, x-linked 72 skos:exactMatch OMIM:300271 semapv:UnspecifiedMatching +GARD:22672 Intellectual developmental disorder, x-linked 53 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22672 Intellectual developmental disorder, x-linked 53 skos:exactMatch OMIM:300324 semapv:UnspecifiedMatching +GARD:22673 Intellectual developmental disorder, x-linked 73 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22673 Intellectual developmental disorder, x-linked 73 skos:exactMatch OMIM:300355 semapv:UnspecifiedMatching +GARD:22674 Intellectual developmental disorder, x-linked 42 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22674 Intellectual developmental disorder, x-linked 42 skos:exactMatch OMIM:300372 semapv:UnspecifiedMatching +GARD:22675 Intellectual developmental disorder, x-linked 2 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22675 Intellectual developmental disorder, x-linked 2 skos:exactMatch OMIM:300428 semapv:UnspecifiedMatching +GARD:22676 Intellectual developmental disorder, x-linked 81 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22676 Intellectual developmental disorder, x-linked 81 skos:exactMatch OMIM:300433 semapv:UnspecifiedMatching +GARD:22677 Intellectual developmental disorder, x-linked 46 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22677 Intellectual developmental disorder, x-linked 46 skos:exactMatch OMIM:300436 semapv:UnspecifiedMatching +GARD:22678 Intellectual developmental disorder, x-linked 77 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22678 Intellectual developmental disorder, x-linked 77 skos:exactMatch OMIM:300454 semapv:UnspecifiedMatching +GARD:22679 Intellectual developmental disorder, x-linked 45 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22679 Intellectual developmental disorder, x-linked 45 skos:exactMatch OMIM:300498 semapv:UnspecifiedMatching +GARD:2268 Fanconi-Bickel syndrome skos:exactMatch Orphanet:2088 semapv:UnspecifiedMatching +GARD:2268 Fanconi-Bickel syndrome skos:narrowMatch OMIM:227810 semapv:UnspecifiedMatching +GARD:22680 Intellectual developmental disorder, x-linked 84 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22680 Intellectual developmental disorder, x-linked 84 skos:exactMatch OMIM:300505 semapv:UnspecifiedMatching +GARD:22681 Mental retardation, x-linked 82 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22681 Mental retardation, x-linked 82 skos:exactMatch OMIM:300518 semapv:UnspecifiedMatching +GARD:22682 Intellectual developmental disorder, x-linked 30 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22682 Intellectual developmental disorder, x-linked 30 skos:exactMatch OMIM:300558 semapv:UnspecifiedMatching +GARD:22683 Chromosome xp11.22 duplication syndrome skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22683 Chromosome xp11.22 duplication syndrome skos:exactMatch OMIM:300705 semapv:UnspecifiedMatching +GARD:22684 Intellectual developmental disorder, x-linked 95 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22684 Intellectual developmental disorder, x-linked 95 skos:exactMatch OMIM:300716 semapv:UnspecifiedMatching +GARD:22685 Intellectual developmental disorder, x-linked 96 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22685 Intellectual developmental disorder, x-linked 96 skos:exactMatch OMIM:300802 semapv:UnspecifiedMatching +GARD:22686 Intellectual developmental disorder, x-linked 97 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22686 Intellectual developmental disorder, x-linked 97 skos:exactMatch OMIM:300803 semapv:UnspecifiedMatching +GARD:22687 Intellectual developmental disorder, x-linked 19 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22687 Intellectual developmental disorder, x-linked 19 skos:exactMatch OMIM:300844 semapv:UnspecifiedMatching +GARD:22688 Mental retardation, x-linked 89 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22688 Mental retardation, x-linked 89 skos:exactMatch OMIM:300848 semapv:UnspecifiedMatching +GARD:22689 Intellectual developmental disorder, x-linked 41 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22689 Intellectual developmental disorder, x-linked 41 skos:exactMatch OMIM:300849 semapv:UnspecifiedMatching +GARD:22690 Intellectual developmental disorder, x-linked 90 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22690 Intellectual developmental disorder, x-linked 90 skos:exactMatch OMIM:300850 semapv:UnspecifiedMatching +GARD:22691 Mental retardation, x-linked 92 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22691 Mental retardation, x-linked 92 skos:exactMatch OMIM:300851 semapv:UnspecifiedMatching +GARD:22692 Mental retardation, x-linked 88 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22692 Mental retardation, x-linked 88 skos:exactMatch OMIM:300852 semapv:UnspecifiedMatching +GARD:22693 Intellectual developmental disorder, x-linked 99 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22693 Intellectual developmental disorder, x-linked 99 skos:exactMatch OMIM:300919 semapv:UnspecifiedMatching +GARD:22694 Intellectual developmental disorder, x-linked 101 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22694 Intellectual developmental disorder, x-linked 101 skos:exactMatch OMIM:300928 semapv:UnspecifiedMatching +GARD:22695 Tonne-kalscheuer syndrome skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22695 Tonne-kalscheuer syndrome skos:exactMatch OMIM:300978 semapv:UnspecifiedMatching +GARD:22696 Intellectual developmental disorder, x-linked 104 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22696 Intellectual developmental disorder, x-linked 104 skos:exactMatch OMIM:300983 semapv:UnspecifiedMatching +GARD:22697 Intellectual developmental disorder, x-linked 105 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22697 Intellectual developmental disorder, x-linked 105 skos:exactMatch OMIM:300984 semapv:UnspecifiedMatching +GARD:22698 Intellectual developmental disorder, x-linked 107 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22698 Intellectual developmental disorder, x-linked 107 skos:exactMatch OMIM:301013 semapv:UnspecifiedMatching +GARD:22699 Intellectual developmental disorder, x-linked 1 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22699 Intellectual developmental disorder, x-linked 1 skos:exactMatch OMIM:309530 semapv:UnspecifiedMatching +GARD:22700 Intellectual developmental disorder, x-linked 9 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:22700 Intellectual developmental disorder, x-linked 9 skos:exactMatch OMIM:309549 semapv:UnspecifiedMatching +GARD:2276 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch Orphanet:2064 semapv:UnspecifiedMatching +GARD:2276 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:narrowMatch OMIM:192800 semapv:UnspecifiedMatching +GARD:2279 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch Orphanet:1192 semapv:UnspecifiedMatching +GARD:2279 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:narrowMatch OMIM:209010 semapv:UnspecifiedMatching +GARD:2285 Gollop-Wolfgang complex skos:exactMatch Orphanet:1986 semapv:UnspecifiedMatching +GARD:2285 Gollop-Wolfgang complex skos:narrowMatch OMIM:228250 semapv:UnspecifiedMatching +GARD:2286 Femur-fibula-ulna complex skos:exactMatch Orphanet:2019 semapv:UnspecifiedMatching +GARD:2286 Femur-fibula-ulna complex skos:narrowMatch OMIM:228200 semapv:UnspecifiedMatching +GARD:2287 Ataxia-photosensitivity-short stature syndrome skos:exactMatch Orphanet:1184 semapv:UnspecifiedMatching +GARD:229 Gómez-López-Hernández syndrome skos:exactMatch Orphanet:1532 semapv:UnspecifiedMatching +GARD:229 Gómez-López-Hernández syndrome skos:narrowMatch OMIM:601853 semapv:UnspecifiedMatching +GARD:2293 Fetal akinesia syndrome, x-linked skos:broadMatch Orphanet:994 semapv:UnspecifiedMatching +GARD:2293 Fetal akinesia syndrome, x-linked skos:exactMatch OMIM:300073 semapv:UnspecifiedMatching +GARD:2294 Aminopterin/methotrexate embryofetopathy skos:exactMatch Orphanet:1908 semapv:UnspecifiedMatching +GARD:2295 Fetal and neonatal alloimmune thrombocytopenia skos:exactMatch Orphanet:853 semapv:UnspecifiedMatching +GARD:23 Blepharophimosis-ptosis-epicanthus inversus syndrome skos:exactMatch Orphanet:126 semapv:UnspecifiedMatching +GARD:23 Blepharophimosis-ptosis-epicanthus inversus syndrome skos:narrowMatch OMIM:110100 semapv:UnspecifiedMatching +GARD:230 Microcephaly-deafness-intellectual disability syndrome skos:exactMatch Orphanet:2533 semapv:UnspecifiedMatching +GARD:230 Microcephaly-deafness-intellectual disability syndrome skos:narrowMatch OMIM:156620 semapv:UnspecifiedMatching +GARD:2303 Indomethacin embryofetopathy skos:exactMatch Orphanet:1909 semapv:UnspecifiedMatching +GARD:2304 Fetal iodine syndrome skos:exactMatch Orphanet:1910 semapv:UnspecifiedMatching +GARD:2304 Fetal iodine syndrome skos:narrowMatch OMIM:228355 semapv:UnspecifiedMatching +GARD:2305 Congenital left ventricular aneurysm skos:exactMatch Orphanet:1055 semapv:UnspecifiedMatching +GARD:2308 Fetal minoxidil syndrome skos:exactMatch Orphanet:1918 semapv:UnspecifiedMatching +GARD:231 CACH syndrome skos:exactMatch Orphanet:135 semapv:UnspecifiedMatching +GARD:231 CACH syndrome skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +GARD:231 CACH syndrome skos:narrowMatch OMIM:615889 semapv:UnspecifiedMatching +GARD:2313 Thalidomide embryopathy skos:exactMatch Orphanet:3312 semapv:UnspecifiedMatching +GARD:2317 FG syndrome type 1 skos:exactMatch Orphanet:93932 semapv:UnspecifiedMatching +GARD:2317 FG syndrome type 1 skos:narrowMatch OMIM:305450 semapv:UnspecifiedMatching +GARD:232 Medullary sponge kidney skos:exactMatch Orphanet:1309 semapv:UnspecifiedMatching +GARD:2320 Congenital fibrinogen deficiency skos:exactMatch Orphanet:335 semapv:UnspecifiedMatching +GARD:2320 Congenital fibrinogen deficiency skos:narrowMatch OMIM:202400 semapv:UnspecifiedMatching +GARD:2320 Congenital fibrinogen deficiency skos:narrowMatch OMIM:616004 semapv:UnspecifiedMatching +GARD:2321 Fibrochondrogenesis skos:exactMatch Orphanet:2021 semapv:UnspecifiedMatching +GARD:2321 Fibrochondrogenesis skos:narrowMatch OMIM:228520 semapv:UnspecifiedMatching +GARD:2321 Fibrochondrogenesis skos:narrowMatch OMIM:614524 semapv:UnspecifiedMatching +GARD:2322 Birt-Hogg-Dubé syndrome skos:exactMatch Orphanet:122 semapv:UnspecifiedMatching +GARD:2322 Birt-Hogg-Dubé syndrome skos:narrowMatch OMIM:135150 semapv:UnspecifiedMatching +GARD:2324 Gingival fibromatosis-hypertrichosis syndrome skos:exactMatch Orphanet:2026 semapv:UnspecifiedMatching +GARD:2324 Gingival fibromatosis-hypertrichosis syndrome skos:narrowMatch OMIM:135400 semapv:UnspecifiedMatching +GARD:2327 Fibrosarcoma skos:exactMatch Orphanet:2030 semapv:UnspecifiedMatching +GARD:2331 Fibular aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:1118 semapv:UnspecifiedMatching +GARD:2331 Fibular aplasia-ectrodactyly syndrome skos:narrowMatch OMIM:113310 semapv:UnspecifiedMatching +GARD:2336 Absence of fingerprints-congenital milia syndrome skos:exactMatch Orphanet:1658 semapv:UnspecifiedMatching +GARD:2336 Absence of fingerprints-congenital milia syndrome skos:narrowMatch OMIM:129200 semapv:UnspecifiedMatching +GARD:2339 AGel amyloidosis skos:exactMatch Orphanet:85448 semapv:UnspecifiedMatching +GARD:2339 AGel amyloidosis skos:narrowMatch OMIM:105120 semapv:UnspecifiedMatching +GARD:234 D-glyceric aciduria skos:exactMatch Orphanet:941 semapv:UnspecifiedMatching +GARD:234 D-glyceric aciduria skos:narrowMatch OMIM:220120 semapv:UnspecifiedMatching +GARD:2342 Spastic paraplegia-nephritis-deafness syndrome skos:exactMatch Orphanet:2820 semapv:UnspecifiedMatching +GARD:2342 Spastic paraplegia-nephritis-deafness syndrome skos:narrowMatch OMIM:182690 semapv:UnspecifiedMatching +GARD:2344 Paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch Orphanet:2824 semapv:UnspecifiedMatching +GARD:2344 Paraplegia-intellectual disability-hyperkeratosis syndrome skos:narrowMatch OMIM:309560 semapv:UnspecifiedMatching +GARD:2346 FLOTCH syndrome skos:exactMatch Orphanet:2045 semapv:UnspecifiedMatching +GARD:2347 Flynn-Aird syndrome skos:exactMatch Orphanet:2047 semapv:UnspecifiedMatching +GARD:2347 Flynn-Aird syndrome skos:narrowMatch OMIM:136300 semapv:UnspecifiedMatching +GARD:2351 Foix-Chavany-Marie syndrome skos:exactMatch Orphanet:2048 semapv:UnspecifiedMatching +GARD:2356 Follicular lymphoma skos:exactMatch Orphanet:545 semapv:UnspecifiedMatching +GARD:2356 Follicular lymphoma skos:narrowMatch OMIM:613024 semapv:UnspecifiedMatching +GARD:236 Hydrocephalus-blue sclerae-nephropathy syndrome skos:exactMatch Orphanet:2186 semapv:UnspecifiedMatching +GARD:2362 Cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 semapv:UnspecifiedMatching +GARD:2362 Cardiospondylocarpofacial syndrome skos:narrowMatch OMIM:157800 semapv:UnspecifiedMatching +GARD:2365 Fowler urethral sphincter dysfunction syndrome skos:exactMatch Orphanet:2795 semapv:UnspecifiedMatching +GARD:237 Dahlberg-Borer-Newcomer syndrome skos:exactMatch Orphanet:1563 semapv:UnspecifiedMatching +GARD:237 Dahlberg-Borer-Newcomer syndrome skos:narrowMatch OMIM:247410 semapv:UnspecifiedMatching +GARD:2375 Frasier syndrome skos:exactMatch Orphanet:347 semapv:UnspecifiedMatching +GARD:2375 Frasier syndrome skos:narrowMatch OMIM:136680 semapv:UnspecifiedMatching +GARD:2378 FRAXE intellectual disability skos:exactMatch Orphanet:100973 semapv:UnspecifiedMatching +GARD:2378 FRAXE intellectual disability skos:narrowMatch OMIM:309548 semapv:UnspecifiedMatching +GARD:238 Odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch Orphanet:2724 semapv:UnspecifiedMatching +GARD:238 Odontomatosis-aortae esophagus stenosis syndrome skos:narrowMatch OMIM:164330 semapv:UnspecifiedMatching +GARD:2380 Osteochondrosis of the metatarsal bone skos:exactMatch Orphanet:564003 semapv:UnspecifiedMatching +GARD:2381 Odontotrichomelic syndrome skos:exactMatch Orphanet:2723 semapv:UnspecifiedMatching +GARD:2381 Odontotrichomelic syndrome skos:narrowMatch OMIM:273400 semapv:UnspecifiedMatching +GARD:2384 14q22q23 microdeletion syndrome skos:exactMatch Orphanet:264200 semapv:UnspecifiedMatching +GARD:2384 14q22q23 microdeletion syndrome skos:narrowMatch OMIM:609640 semapv:UnspecifiedMatching +GARD:239 Say-Barber-Miller syndrome skos:exactMatch Orphanet:3132 semapv:UnspecifiedMatching +GARD:239 Say-Barber-Miller syndrome skos:narrowMatch OMIM:251240 semapv:UnspecifiedMatching +GARD:2390 Frontofacionasal dysplasia skos:exactMatch Orphanet:1791 semapv:UnspecifiedMatching +GARD:2390 Frontofacionasal dysplasia skos:narrowMatch OMIM:229400 semapv:UnspecifiedMatching +GARD:2392 Frontonasal dysplasia skos:exactMatch Orphanet:250 semapv:UnspecifiedMatching +GARD:2397 Diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch Orphanet:2141 semapv:UnspecifiedMatching +GARD:2397 Diaphragmatic defect-limb deficiency-skull defect syndrome skos:narrowMatch OMIM:601163 semapv:UnspecifiedMatching +GARD:2400 Fructose-1,6-bisphosphatase deficiency skos:exactMatch Orphanet:348 semapv:UnspecifiedMatching +GARD:2400 Fructose-1,6-bisphosphatase deficiency skos:narrowMatch OMIM:229700 semapv:UnspecifiedMatching +GARD:2408 Upper limb mesomelic dysplasia skos:exactMatch Orphanet:2497 semapv:UnspecifiedMatching +GARD:2408 Upper limb mesomelic dysplasia skos:narrowMatch OMIM:191440 semapv:UnspecifiedMatching +GARD:2409 Fryns-Smeets-Thiry syndrome skos:exactMatch Orphanet:2058 semapv:UnspecifiedMatching +GARD:241 Scalp defects-postaxial polydactyly syndrome skos:exactMatch Orphanet:1003 semapv:UnspecifiedMatching +GARD:241 Scalp defects-postaxial polydactyly syndrome skos:narrowMatch OMIM:181250 semapv:UnspecifiedMatching +GARD:2410 Fuhrmann syndrome skos:exactMatch Orphanet:2854 semapv:UnspecifiedMatching +GARD:2410 Fuhrmann syndrome skos:narrowMatch OMIM:228930 semapv:UnspecifiedMatching +GARD:2417 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch Orphanet:2579 semapv:UnspecifiedMatching +GARD:2417 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:narrowMatch OMIM:158500 semapv:UnspecifiedMatching +GARD:2418 Furuncular myiasis skos:exactMatch Orphanet:591 semapv:UnspecifiedMatching +GARD:2419 Fused mandibular incisors skos:exactMatch Orphanet:2287 semapv:UnspecifiedMatching +GARD:2419 Fused mandibular incisors skos:narrowMatch OMIM:147251 semapv:UnspecifiedMatching +GARD:2422 Galactokinase deficiency skos:exactMatch Orphanet:79237 semapv:UnspecifiedMatching +GARD:2422 Galactokinase deficiency skos:narrowMatch OMIM:230200 semapv:UnspecifiedMatching +GARD:2424 Galactosemia skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +GARD:2424 Galactosemia skos:narrowMatch OMIM:230200 semapv:UnspecifiedMatching +GARD:2424 Galactosemia skos:narrowMatch OMIM:230350 semapv:UnspecifiedMatching +GARD:2424 Galactosemia skos:narrowMatch OMIM:230400 semapv:UnspecifiedMatching +GARD:2427 Growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch Orphanet:3035 semapv:UnspecifiedMatching +GARD:2427 Growth delay-hydrocephaly-lung hypoplasia syndrome skos:narrowMatch OMIM:236640 semapv:UnspecifiedMatching +GARD:2428 Cystathioninuria skos:exactMatch Orphanet:212 semapv:UnspecifiedMatching +GARD:2428 Cystathioninuria skos:narrowMatch OMIM:219500 semapv:UnspecifiedMatching +GARD:2429 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 skos:exactMatch Orphanet:353 semapv:UnspecifiedMatching +GARD:2429 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 skos:narrowMatch OMIM:253700 semapv:UnspecifiedMatching +GARD:243 Trigonocephaly-short stature-developmental delay syndrome skos:exactMatch Orphanet:3369 semapv:UnspecifiedMatching +GARD:243 Trigonocephaly-short stature-developmental delay syndrome skos:narrowMatch OMIM:314320 semapv:UnspecifiedMatching +GARD:2430 Ganglioglioma skos:exactMatch Orphanet:251949 semapv:UnspecifiedMatching +GARD:2431 GM1 gangliosidosis type 3 skos:exactMatch Orphanet:79257 semapv:UnspecifiedMatching +GARD:2431 GM1 gangliosidosis type 3 skos:narrowMatch OMIM:230650 semapv:UnspecifiedMatching +GARD:2432 X-linked Alport syndrome-diffuse leiomyomatosis skos:exactMatch Orphanet:1018 semapv:UnspecifiedMatching +GARD:2432 X-linked Alport syndrome-diffuse leiomyomatosis skos:narrowMatch OMIM:150700 semapv:UnspecifiedMatching +GARD:2432 X-linked Alport syndrome-diffuse leiomyomatosis skos:narrowMatch OMIM:308940 semapv:UnspecifiedMatching +GARD:2436 Ménétrier disease skos:exactMatch Orphanet:2494 semapv:UnspecifiedMatching +GARD:2436 Ménétrier disease skos:narrowMatch OMIM:137280 semapv:UnspecifiedMatching +GARD:2437 Gastroenteropancreatic neuroendocrine neoplasm skos:exactMatch Orphanet:100092 semapv:UnspecifiedMatching +GARD:2438 Gastrocutaneous syndrome skos:exactMatch Orphanet:2069 semapv:UnspecifiedMatching +GARD:2438 Gastrocutaneous syndrome skos:narrowMatch OMIM:137270 semapv:UnspecifiedMatching +GARD:2441 Gaucher disease type 1 skos:exactMatch Orphanet:77259 semapv:UnspecifiedMatching +GARD:2441 Gaucher disease type 1 skos:narrowMatch OMIM:230800 semapv:UnspecifiedMatching +GARD:2442 Gaucher disease type 2 skos:exactMatch Orphanet:77260 semapv:UnspecifiedMatching +GARD:2442 Gaucher disease type 2 skos:narrowMatch OMIM:230900 semapv:UnspecifiedMatching +GARD:2443 Gaucher disease type 3 skos:exactMatch Orphanet:77261 semapv:UnspecifiedMatching +GARD:2443 Gaucher disease type 3 skos:narrowMatch OMIM:231000 semapv:UnspecifiedMatching +GARD:2449 Geleophysic dysplasia skos:exactMatch Orphanet:2623 semapv:UnspecifiedMatching +GARD:2449 Geleophysic dysplasia skos:narrowMatch OMIM:231050 semapv:UnspecifiedMatching +GARD:2449 Geleophysic dysplasia skos:narrowMatch OMIM:614185 semapv:UnspecifiedMatching +GARD:2449 Geleophysic dysplasia skos:narrowMatch OMIM:617809 semapv:UnspecifiedMatching +GARD:2451 Gemignani syndrome skos:exactMatch Orphanet:2074 semapv:UnspecifiedMatching +GARD:2452 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome skos:exactMatch Orphanet:2084 semapv:UnspecifiedMatching +GARD:2452 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome skos:narrowMatch OMIM:608328 semapv:UnspecifiedMatching +GARD:2454 Holoprosencephaly-craniosynostosis syndrome skos:exactMatch Orphanet:2163 semapv:UnspecifiedMatching +GARD:2454 Holoprosencephaly-craniosynostosis syndrome skos:narrowMatch OMIM:601370 semapv:UnspecifiedMatching +GARD:2456 Mycobacterium tuberculosis, susceptibility to skos:broadMatch Orphanet:3389 semapv:UnspecifiedMatching +GARD:2456 Mycobacterium tuberculosis, susceptibility to skos:exactMatch OMIM:607948 semapv:UnspecifiedMatching +GARD:246 Schisis association skos:exactMatch Orphanet:63862 semapv:UnspecifiedMatching +GARD:2460 Genitopalatocardiac syndrome skos:exactMatch Orphanet:2075 semapv:UnspecifiedMatching +GARD:2460 Genitopalatocardiac syndrome skos:narrowMatch OMIM:231060 semapv:UnspecifiedMatching +GARD:2462 German syndrome skos:exactMatch Orphanet:2077 semapv:UnspecifiedMatching +GARD:2462 German syndrome skos:narrowMatch OMIM:231080 semapv:UnspecifiedMatching +GARD:2469 Large congenital melanocytic nevus skos:exactMatch Orphanet:626 semapv:UnspecifiedMatching +GARD:2469 Large congenital melanocytic nevus skos:narrowMatch OMIM:137550 semapv:UnspecifiedMatching +GARD:247 SCARF syndrome skos:exactMatch Orphanet:3134 semapv:UnspecifiedMatching +GARD:247 SCARF syndrome skos:narrowMatch OMIM:312830 semapv:UnspecifiedMatching +GARD:2470 Bernard-Soulier syndrome skos:exactMatch Orphanet:274 semapv:UnspecifiedMatching +GARD:2470 Bernard-Soulier syndrome skos:narrowMatch OMIM:153670 semapv:UnspecifiedMatching +GARD:2470 Bernard-Soulier syndrome skos:narrowMatch OMIM:231200 semapv:UnspecifiedMatching +GARD:2474 Fibromatosis, gingival, 2 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +GARD:2474 Fibromatosis, gingival, 2 skos:exactMatch OMIM:605544 semapv:UnspecifiedMatching +GARD:2475 Fibromatosis, gingival, 4 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +GARD:2475 Fibromatosis, gingival, 4 skos:exactMatch OMIM:611010 semapv:UnspecifiedMatching +GARD:2478 Glanzmann thrombasthenia skos:exactMatch Orphanet:849 semapv:UnspecifiedMatching +GARD:2478 Glanzmann thrombasthenia skos:narrowMatch OMIM:273800 semapv:UnspecifiedMatching +GARD:2478 Glanzmann thrombasthenia skos:narrowMatch OMIM:619267 semapv:UnspecifiedMatching +GARD:248 Cataract-deafness-hypogonadism syndrome skos:exactMatch Orphanet:1383 semapv:UnspecifiedMatching +GARD:2483 Glaucoma-sleep apnea syndrome skos:exactMatch Orphanet:2085 semapv:UnspecifiedMatching +GARD:2483 Glaucoma-sleep apnea syndrome skos:narrowMatch OMIM:137763 semapv:UnspecifiedMatching +GARD:2485 Congenital glaucoma skos:exactMatch Orphanet:98976 semapv:UnspecifiedMatching +GARD:2485 Congenital glaucoma skos:narrowMatch OMIM:231300 semapv:UnspecifiedMatching +GARD:2485 Congenital glaucoma skos:narrowMatch OMIM:600975 semapv:UnspecifiedMatching +GARD:2485 Congenital glaucoma skos:narrowMatch OMIM:613085 semapv:UnspecifiedMatching +GARD:2485 Congenital glaucoma skos:narrowMatch OMIM:613086 semapv:UnspecifiedMatching +GARD:2485 Congenital glaucoma skos:narrowMatch OMIM:617272 semapv:UnspecifiedMatching +GARD:2486 Pediatric-onset glaucoma of genetic origin skos:exactMatch Orphanet:359 semapv:UnspecifiedMatching +GARD:249 Craniodiaphyseal dysplasia, autosomal dominant skos:broadMatch Orphanet:1513 semapv:UnspecifiedMatching +GARD:249 Craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:122860 semapv:UnspecifiedMatching +GARD:2490 Glaucoma 3, primary infantile, b skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +GARD:2490 Glaucoma 3, primary infantile, b skos:exactMatch OMIM:600975 semapv:UnspecifiedMatching +GARD:2491 Glioblastoma skos:exactMatch Orphanet:360 semapv:UnspecifiedMatching +GARD:2491 Glioblastoma skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +GARD:2491 Glioblastoma skos:narrowMatch OMIM:613029 semapv:UnspecifiedMatching +GARD:2492 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:broadMatch Orphanet:69735 semapv:UnspecifiedMatching +GARD:2492 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch OMIM:137940 semapv:UnspecifiedMatching +GARD:2496 Glucagonoma skos:exactMatch Orphanet:97280 semapv:UnspecifiedMatching +GARD:2498 Familial glucocorticoid deficiency skos:exactMatch Orphanet:361 semapv:UnspecifiedMatching +GARD:2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:202200 semapv:UnspecifiedMatching +GARD:2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:202355 semapv:UnspecifiedMatching +GARD:2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:607398 semapv:UnspecifiedMatching +GARD:2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:609197 semapv:UnspecifiedMatching +GARD:2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:614736 semapv:UnspecifiedMatching +GARD:2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:617825 semapv:UnspecifiedMatching +GARD:2499 Generalized glucocorticoid resistance syndrome skos:exactMatch Orphanet:786 semapv:UnspecifiedMatching +GARD:2499 Generalized glucocorticoid resistance syndrome skos:narrowMatch OMIM:615962 semapv:UnspecifiedMatching +GARD:250 Schwartz-Jampel syndrome skos:exactMatch Orphanet:800 semapv:UnspecifiedMatching +GARD:250 Schwartz-Jampel syndrome skos:narrowMatch OMIM:255800 semapv:UnspecifiedMatching +GARD:2513 Glycogen storage disease due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 semapv:UnspecifiedMatching +GARD:2513 Glycogen storage disease due to hepatic glycogen synthase deficiency skos:narrowMatch OMIM:240600 semapv:UnspecifiedMatching +GARD:2515 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib skos:exactMatch Orphanet:79259 semapv:UnspecifiedMatching +GARD:2515 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib skos:narrowMatch OMIM:232220 semapv:UnspecifiedMatching +GARD:2515 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib skos:narrowMatch OMIM:232240 semapv:UnspecifiedMatching +GARD:2520 Glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch Orphanet:367 semapv:UnspecifiedMatching +GARD:2520 Glycogen storage disease due to glycogen branching enzyme deficiency skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +GARD:2520 Glycogen storage disease due to glycogen branching enzyme deficiency skos:narrowMatch OMIM:263570 semapv:UnspecifiedMatching +GARD:2521 Sandhoff disease skos:exactMatch Orphanet:796 semapv:UnspecifiedMatching +GARD:2521 Sandhoff disease skos:narrowMatch OMIM:268800 semapv:UnspecifiedMatching +GARD:2523 GMS syndrome skos:exactMatch Orphanet:2090 semapv:UnspecifiedMatching +GARD:2523 GMS syndrome skos:narrowMatch OMIM:138770 semapv:UnspecifiedMatching +GARD:2541 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch Orphanet:1770 semapv:UnspecifiedMatching +GARD:2541 XY type gonadal dysgenesis-associated anomalies syndrome skos:narrowMatch OMIM:233430 semapv:UnspecifiedMatching +GARD:2542 Perrault syndrome skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching +GARD:2542 Perrault syndrome skos:narrowMatch OMIM:233400 semapv:UnspecifiedMatching +GARD:2542 Perrault syndrome skos:narrowMatch OMIM:614129 semapv:UnspecifiedMatching +GARD:2542 Perrault syndrome skos:narrowMatch OMIM:614926 semapv:UnspecifiedMatching +GARD:2542 Perrault syndrome skos:narrowMatch OMIM:615300 semapv:UnspecifiedMatching +GARD:2542 Perrault syndrome skos:narrowMatch OMIM:616138 semapv:UnspecifiedMatching +GARD:2542 Perrault syndrome skos:narrowMatch OMIM:617565 semapv:UnspecifiedMatching +GARD:2546 Gonococcal conjunctivitis skos:exactMatch Orphanet:1482 semapv:UnspecifiedMatching +GARD:2549 Goodman syndrome skos:exactMatch Orphanet:65798 semapv:UnspecifiedMatching +GARD:2549 Goodman syndrome skos:narrowMatch OMIM:201020 semapv:UnspecifiedMatching +GARD:2551 Anti-glomerular basement membrane disease skos:exactMatch Orphanet:375 semapv:UnspecifiedMatching +GARD:2551 Anti-glomerular basement membrane disease skos:narrowMatch OMIM:233450 semapv:UnspecifiedMatching +GARD:2553 Gordon syndrome skos:exactMatch Orphanet:376 semapv:UnspecifiedMatching +GARD:2553 Gordon syndrome skos:narrowMatch OMIM:114300 semapv:UnspecifiedMatching +GARD:2557 Cystic hamartoma of lung and kidney skos:exactMatch Orphanet:2111 semapv:UnspecifiedMatching +GARD:2559 Grant syndrome skos:exactMatch Orphanet:2097 semapv:UnspecifiedMatching +GARD:2559 Grant syndrome skos:narrowMatch OMIM:138930 semapv:UnspecifiedMatching +GARD:2562 Gray platelet syndrome skos:exactMatch Orphanet:721 semapv:UnspecifiedMatching +GARD:2562 Gray platelet syndrome skos:narrowMatch OMIM:139090 semapv:UnspecifiedMatching +GARD:2562 Gray platelet syndrome skos:narrowMatch OMIM:187900 semapv:UnspecifiedMatching +GARD:2566 Griscelli syndrome type 1 skos:exactMatch Orphanet:79476 semapv:UnspecifiedMatching +GARD:2566 Griscelli syndrome type 1 skos:narrowMatch OMIM:214450 semapv:UnspecifiedMatching +GARD:2568 Deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch Orphanet:3217 semapv:UnspecifiedMatching +GARD:2568 Deafness-small bowel diverticulosis-neuropathy syndrome skos:narrowMatch OMIM:221400 semapv:UnspecifiedMatching +GARD:257 Intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch Orphanet:3041 semapv:UnspecifiedMatching +GARD:257 Intellectual disability-balding-patella luxation-acromicria syndrome skos:narrowMatch OMIM:300977 semapv:UnspecifiedMatching +GARD:2572 Myhre syndrome skos:exactMatch Orphanet:2588 semapv:UnspecifiedMatching +GARD:2572 Myhre syndrome skos:narrowMatch OMIM:139210 semapv:UnspecifiedMatching +GARD:2576 Grubben-de Cock-Borghgraef syndrome skos:exactMatch Orphanet:2101 semapv:UnspecifiedMatching +GARD:2576 Grubben-de Cock-Borghgraef syndrome skos:narrowMatch OMIM:233810 semapv:UnspecifiedMatching +GARD:2578 Guanidinoacetate methyltransferase deficiency skos:exactMatch Orphanet:382 semapv:UnspecifiedMatching +GARD:2578 Guanidinoacetate methyltransferase deficiency skos:narrowMatch OMIM:612736 semapv:UnspecifiedMatching +GARD:2579 Osteopetrosis, autosomal recessive 1 skos:broadMatch Orphanet:667 semapv:UnspecifiedMatching +GARD:2579 Osteopetrosis, autosomal recessive 1 skos:exactMatch OMIM:259700 semapv:UnspecifiedMatching +GARD:258 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch Orphanet:2252 semapv:UnspecifiedMatching +GARD:258 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:narrowMatch OMIM:179250 semapv:UnspecifiedMatching +GARD:2580 X-linked corneal dermoid skos:exactMatch Orphanet:1661 semapv:UnspecifiedMatching +GARD:2580 X-linked corneal dermoid skos:narrowMatch OMIM:304730 semapv:UnspecifiedMatching +GARD:2586 Hall-Riggs syndrome skos:exactMatch Orphanet:2107 semapv:UnspecifiedMatching +GARD:2586 Hall-Riggs syndrome skos:narrowMatch OMIM:234250 semapv:UnspecifiedMatching +GARD:2589 Digital extensor muscle aplasia-polyneuropathy skos:exactMatch Orphanet:2926 semapv:UnspecifiedMatching +GARD:2589 Digital extensor muscle aplasia-polyneuropathy skos:narrowMatch OMIM:207740 semapv:UnspecifiedMatching +GARD:259 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome skos:exactMatch Orphanet:3145 semapv:UnspecifiedMatching +GARD:259 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome skos:narrowMatch OMIM:221995 semapv:UnspecifiedMatching +GARD:2593 Emery-Nelson syndrome skos:exactMatch Orphanet:1927 semapv:UnspecifiedMatching +GARD:2593 Emery-Nelson syndrome skos:narrowMatch OMIM:139750 semapv:UnspecifiedMatching +GARD:2594 Hand-foot-genital syndrome skos:exactMatch Orphanet:2438 semapv:UnspecifiedMatching +GARD:2594 Hand-foot-genital syndrome skos:narrowMatch OMIM:140000 semapv:UnspecifiedMatching +GARD:2597 Extensor tendons of finger anomalies skos:exactMatch Orphanet:3294 semapv:UnspecifiedMatching +GARD:2597 Extensor tendons of finger anomalies skos:narrowMatch OMIM:187390 semapv:UnspecifiedMatching +GARD:2598 Parana hard skin syndrome skos:exactMatch Orphanet:2812 semapv:UnspecifiedMatching +GARD:2598 Parana hard skin syndrome skos:narrowMatch OMIM:260530 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:236670 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:253280 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:253800 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:613150 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:613153 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:613154 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:614643 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:614830 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:615041 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:615181 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:615249 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:615287 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:616538 semapv:UnspecifiedMatching +GARD:2599 Walker-Warburg syndrome skos:narrowMatch OMIM:618135 semapv:UnspecifiedMatching +GARD:26 Cat-eye syndrome skos:exactMatch Orphanet:195 semapv:UnspecifiedMatching +GARD:26 Cat-eye syndrome skos:narrowMatch OMIM:115470 semapv:UnspecifiedMatching +GARD:2600 Early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch Orphanet:1177 semapv:UnspecifiedMatching +GARD:2600 Early-onset cerebellar ataxia with retained tendon reflexes skos:narrowMatch OMIM:212895 semapv:UnspecifiedMatching +GARD:2601 Harrod syndrome skos:exactMatch Orphanet:2115 semapv:UnspecifiedMatching +GARD:2601 Harrod syndrome skos:narrowMatch OMIM:601095 semapv:UnspecifiedMatching +GARD:2605 Short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch Orphanet:2994 semapv:UnspecifiedMatching +GARD:2605 Short stature-craniofacial anomalies-genital hypoplasia syndrome skos:narrowMatch OMIM:177980 semapv:UnspecifiedMatching +GARD:2610 Progressive familial heart block, type ib skos:broadMatch Orphanet:871 semapv:UnspecifiedMatching +GARD:2610 Progressive familial heart block, type ib skos:exactMatch OMIM:604559 semapv:UnspecifiedMatching +GARD:2613 Heart defects-limb shortening syndrome skos:exactMatch Orphanet:1354 semapv:UnspecifiedMatching +GARD:2613 Heart defects-limb shortening syndrome skos:narrowMatch OMIM:212135 semapv:UnspecifiedMatching +GARD:2614 Heart-hand syndrome type 3 skos:exactMatch Orphanet:1342 semapv:UnspecifiedMatching +GARD:2614 Heart-hand syndrome type 3 skos:narrowMatch OMIM:140450 semapv:UnspecifiedMatching +GARD:262 NARP syndrome skos:exactMatch Orphanet:644 semapv:UnspecifiedMatching +GARD:262 NARP syndrome skos:narrowMatch OMIM:551500 semapv:UnspecifiedMatching +GARD:2620 HEC syndrome skos:exactMatch Orphanet:2119 semapv:UnspecifiedMatching +GARD:2620 HEC syndrome skos:narrowMatch OMIM:600559 semapv:UnspecifiedMatching +GARD:2621 Trismus-pseudocamptodactyly syndrome skos:exactMatch Orphanet:3377 semapv:UnspecifiedMatching +GARD:2621 Trismus-pseudocamptodactyly syndrome skos:narrowMatch OMIM:158300 semapv:UnspecifiedMatching +GARD:2622 FATCO syndrome skos:exactMatch Orphanet:2492 semapv:UnspecifiedMatching +GARD:2627 Hemangiopericytoma, malignant skos:broadMatch Orphanet:2126 semapv:UnspecifiedMatching +GARD:2627 Hemangiopericytoma, malignant skos:exactMatch OMIM:234820 semapv:UnspecifiedMatching +GARD:2630 Isolated hemihyperplasia skos:exactMatch Orphanet:2128 semapv:UnspecifiedMatching +GARD:2630 Isolated hemihyperplasia skos:narrowMatch OMIM:235000 semapv:UnspecifiedMatching +GARD:2633 Bencze syndrome skos:exactMatch Orphanet:1241 semapv:UnspecifiedMatching +GARD:2633 Bencze syndrome skos:narrowMatch OMIM:141350 semapv:UnspecifiedMatching +GARD:2637 Hemimegalencephaly skos:exactMatch Orphanet:99802 semapv:UnspecifiedMatching +GARD:2638 Migraine, familial hemiplegic, 1 skos:broadMatch Orphanet:569 semapv:UnspecifiedMatching +GARD:2638 Migraine, familial hemiplegic, 1 skos:exactMatch OMIM:141500 semapv:UnspecifiedMatching +GARD:264 Lowry-Wood syndrome skos:exactMatch Orphanet:1824 semapv:UnspecifiedMatching +GARD:264 Lowry-Wood syndrome skos:narrowMatch OMIM:226960 semapv:UnspecifiedMatching +GARD:2640 Hemoglobin C disease skos:exactMatch Orphanet:2132 semapv:UnspecifiedMatching +GARD:2641 Hemoglobin E disease skos:exactMatch Orphanet:2133 semapv:UnspecifiedMatching +GARD:2642 Lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch Orphanet:1046 semapv:UnspecifiedMatching +GARD:2642 Lethal hemolytic anemia-genital anomalies syndrome skos:narrowMatch OMIM:600461 semapv:UnspecifiedMatching +GARD:265 Trichodental syndrome skos:exactMatch Orphanet:3351 semapv:UnspecifiedMatching +GARD:265 Trichodental syndrome skos:narrowMatch OMIM:601453 semapv:UnspecifiedMatching +GARD:2650 Heparin-induced thrombocytopenia skos:exactMatch Orphanet:3325 semapv:UnspecifiedMatching +GARD:2651 Hepatic cystic hamartoma skos:exactMatch Orphanet:386 semapv:UnspecifiedMatching +GARD:2657 Hepatoblastoma skos:exactMatch Orphanet:449 semapv:UnspecifiedMatching +GARD:2657 Hepatoblastoma skos:narrowMatch OMIM:114550 semapv:UnspecifiedMatching +GARD:2658 Tyrosinemia type 1 skos:exactMatch Orphanet:882 semapv:UnspecifiedMatching +GARD:2658 Tyrosinemia type 1 skos:narrowMatch OMIM:276700 semapv:UnspecifiedMatching +GARD:2659 Hereditary methemoglobinemia skos:exactMatch Orphanet:621 semapv:UnspecifiedMatching +GARD:2659 Hereditary methemoglobinemia skos:narrowMatch OMIM:250700 semapv:UnspecifiedMatching +GARD:2659 Hereditary methemoglobinemia skos:narrowMatch OMIM:250790 semapv:UnspecifiedMatching +GARD:2659 Hereditary methemoglobinemia skos:narrowMatch OMIM:250800 semapv:UnspecifiedMatching +GARD:267 Keipert syndrome skos:exactMatch Orphanet:2662 semapv:UnspecifiedMatching +GARD:267 Keipert syndrome skos:narrowMatch OMIM:301026 semapv:UnspecifiedMatching +GARD:2682 Hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch Orphanet:1808 semapv:UnspecifiedMatching +GARD:2682 Hidrotic ectodermal dysplasia, Christianson-Fourie type skos:narrowMatch OMIM:601375 semapv:UnspecifiedMatching +GARD:2684 Congenital high-molecular-weight kininogen deficiency skos:exactMatch Orphanet:483 semapv:UnspecifiedMatching +GARD:2684 Congenital high-molecular-weight kininogen deficiency skos:narrowMatch OMIM:228960 semapv:UnspecifiedMatching +GARD:269 IVIC syndrome skos:exactMatch Orphanet:2307 semapv:UnspecifiedMatching +GARD:269 IVIC syndrome skos:narrowMatch OMIM:147750 semapv:UnspecifiedMatching +GARD:2690 Hip dysplasia, Beukes type skos:exactMatch Orphanet:2114 semapv:UnspecifiedMatching +GARD:2690 Hip dysplasia, Beukes type skos:narrowMatch OMIM:142669 semapv:UnspecifiedMatching +GARD:2695 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch Orphanet:2151 semapv:UnspecifiedMatching +GARD:27 Cat-scratch disease skos:exactMatch Orphanet:50839 semapv:UnspecifiedMatching +GARD:270 Nicolaides-Baraitser syndrome skos:exactMatch Orphanet:3051 semapv:UnspecifiedMatching +GARD:270 Nicolaides-Baraitser syndrome skos:narrowMatch OMIM:601358 semapv:UnspecifiedMatching +GARD:2700 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch Orphanet:2150 semapv:UnspecifiedMatching +GARD:2700 Hirschsprung disease-type D brachydactyly syndrome skos:narrowMatch OMIM:306980 semapv:UnspecifiedMatching +GARD:2706 His bundle tachycardia skos:exactMatch Orphanet:3283 semapv:UnspecifiedMatching +GARD:2708 Histidinuria-renal tubular defect syndrome skos:exactMatch Orphanet:2158 semapv:UnspecifiedMatching +GARD:2708 Histidinuria-renal tubular defect syndrome skos:narrowMatch OMIM:235830 semapv:UnspecifiedMatching +GARD:2712 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch Orphanet:35701 semapv:UnspecifiedMatching +GARD:2712 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:narrowMatch OMIM:605911 semapv:UnspecifiedMatching +GARD:2714 Hodgkin lymphoma skos:exactMatch Orphanet:98293 semapv:UnspecifiedMatching +GARD:272 VACTERL with hydrocephalus skos:exactMatch Orphanet:3412 semapv:UnspecifiedMatching +GARD:272 VACTERL with hydrocephalus skos:narrowMatch OMIM:276950 semapv:UnspecifiedMatching +GARD:272 VACTERL with hydrocephalus skos:narrowMatch OMIM:314390 semapv:UnspecifiedMatching +GARD:2721 Holocarboxylase synthetase deficiency skos:exactMatch Orphanet:79242 semapv:UnspecifiedMatching +GARD:2721 Holocarboxylase synthetase deficiency skos:narrowMatch OMIM:253270 semapv:UnspecifiedMatching +GARD:2722 Holoprosencephaly-caudal dysgenesis syndrome skos:exactMatch Orphanet:2165 semapv:UnspecifiedMatching +GARD:2725 Hartsfield syndrome skos:exactMatch Orphanet:2117 semapv:UnspecifiedMatching +GARD:2725 Hartsfield syndrome skos:narrowMatch OMIM:615465 semapv:UnspecifiedMatching +GARD:2727 Holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch Orphanet:3186 semapv:UnspecifiedMatching +GARD:2727 Holoprosencephaly-radial heart renal anomalies syndrome skos:narrowMatch OMIM:184705 semapv:UnspecifiedMatching +GARD:2728 Holzgreve syndrome skos:exactMatch Orphanet:2167 semapv:UnspecifiedMatching +GARD:2728 Holzgreve syndrome skos:narrowMatch OMIM:236110 semapv:UnspecifiedMatching +GARD:273 Wrinkly skin syndrome skos:exactMatch Orphanet:2834 semapv:UnspecifiedMatching +GARD:273 Wrinkly skin syndrome skos:narrowMatch OMIM:278250 semapv:UnspecifiedMatching +GARD:2734 Homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch Orphanet:395 semapv:UnspecifiedMatching +GARD:2734 Homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:narrowMatch OMIM:236250 semapv:UnspecifiedMatching +GARD:274 X-linked immunoneurologic disorder skos:exactMatch Orphanet:2571 semapv:UnspecifiedMatching +GARD:274 X-linked immunoneurologic disorder skos:narrowMatch OMIM:300076 semapv:UnspecifiedMatching +GARD:2742 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch Orphanet:1352 semapv:UnspecifiedMatching +GARD:2742 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:narrowMatch OMIM:600123 semapv:UnspecifiedMatching +GARD:2748 Humero-radial synostosis skos:exactMatch Orphanet:3265 semapv:UnspecifiedMatching +GARD:2748 Humero-radial synostosis skos:narrowMatch OMIM:143050 semapv:UnspecifiedMatching +GARD:2748 Humero-radial synostosis skos:narrowMatch OMIM:236400 semapv:UnspecifiedMatching +GARD:2749 Humero-radio-ulnar synostosis skos:exactMatch Orphanet:3266 semapv:UnspecifiedMatching +GARD:2750 Humerus trochlea aplasia skos:exactMatch Orphanet:3383 semapv:UnspecifiedMatching +GARD:2750 Humerus trochlea aplasia skos:narrowMatch OMIM:191000 semapv:UnspecifiedMatching +GARD:2754 Hunter-McAlpine syndrome skos:exactMatch Orphanet:97340 semapv:UnspecifiedMatching +GARD:2754 Hunter-McAlpine syndrome skos:narrowMatch OMIM:601379 semapv:UnspecifiedMatching +GARD:2756 Trigonocephaly-broad thumbs syndrome skos:exactMatch Orphanet:3365 semapv:UnspecifiedMatching +GARD:276 Hypogonadotropic hypogonadism 12 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:276 Hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch OMIM:614841 semapv:UnspecifiedMatching +GARD:2764 Cystic echinococcosis skos:exactMatch Orphanet:400 semapv:UnspecifiedMatching +GARD:2765 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch Orphanet:2898 semapv:UnspecifiedMatching +GARD:2765 X-linked intellectual disability-plagiocephaly syndrome skos:narrowMatch OMIM:300064 semapv:UnspecifiedMatching +GARD:277 Pilodental dysplasia-refractive errors syndrome skos:exactMatch Orphanet:2892 semapv:UnspecifiedMatching +GARD:277 Pilodental dysplasia-refractive errors syndrome skos:narrowMatch OMIM:262020 semapv:UnspecifiedMatching +GARD:2775 Hydrocephalus-obesity-hypogonadism syndrome skos:exactMatch Orphanet:2183 semapv:UnspecifiedMatching +GARD:2783 Hydrops fetalis skos:exactMatch Orphanet:1041 semapv:UnspecifiedMatching +GARD:2783 Hydrops fetalis skos:narrowMatch OMIM:236750 semapv:UnspecifiedMatching +GARD:2787 Hymenolepiasis skos:exactMatch Orphanet:401 semapv:UnspecifiedMatching +GARD:2788 Hyperimmunoglobulinemia D with periodic fever skos:exactMatch Orphanet:343 semapv:UnspecifiedMatching +GARD:2788 Hyperimmunoglobulinemia D with periodic fever skos:narrowMatch OMIM:260920 semapv:UnspecifiedMatching +GARD:2789 Familial hyperaldosteronism type II skos:exactMatch Orphanet:404 semapv:UnspecifiedMatching +GARD:2789 Familial hyperaldosteronism type II skos:narrowMatch OMIM:605635 semapv:UnspecifiedMatching +GARD:2790 Familial hyperaldosteronism type I skos:exactMatch Orphanet:403 semapv:UnspecifiedMatching +GARD:2790 Familial hyperaldosteronism type I skos:narrowMatch OMIM:103900 semapv:UnspecifiedMatching +GARD:2791 Transient familial neonatal hyperbilirubinemia skos:exactMatch Orphanet:2312 semapv:UnspecifiedMatching +GARD:2791 Transient familial neonatal hyperbilirubinemia skos:narrowMatch OMIM:237900 semapv:UnspecifiedMatching +GARD:2793 Dubin-Johnson syndrome skos:exactMatch Orphanet:234 semapv:UnspecifiedMatching +GARD:2793 Dubin-Johnson syndrome skos:narrowMatch OMIM:237500 semapv:UnspecifiedMatching +GARD:2796 Familial hypocalciuric hypercalcemia type 1 skos:exactMatch Orphanet:93372 semapv:UnspecifiedMatching +GARD:2796 Familial hypocalciuric hypercalcemia type 1 skos:narrowMatch OMIM:145980 semapv:UnspecifiedMatching +GARD:28 Catel-Manzke syndrome skos:exactMatch Orphanet:1388 semapv:UnspecifiedMatching +GARD:28 Catel-Manzke syndrome skos:narrowMatch OMIM:616145 semapv:UnspecifiedMatching +GARD:280 Hidrotic ectodermal dysplasia, Halal type skos:exactMatch Orphanet:1809 semapv:UnspecifiedMatching +GARD:2804 Hypereosinophilic syndrome skos:exactMatch Orphanet:168956 semapv:UnspecifiedMatching +GARD:2806 Hereditary hyperferritinemia-cataract syndrome skos:exactMatch Orphanet:163 semapv:UnspecifiedMatching +GARD:2806 Hereditary hyperferritinemia-cataract syndrome skos:narrowMatch OMIM:600886 semapv:UnspecifiedMatching +GARD:2807 Isolated glycerol kinase deficiency skos:exactMatch Orphanet:408 semapv:UnspecifiedMatching +GARD:2807 Isolated glycerol kinase deficiency skos:narrowMatch OMIM:307030 semapv:UnspecifiedMatching +GARD:2816 Combined immunodeficiency due to DOCK8 deficiency skos:exactMatch Orphanet:217390 semapv:UnspecifiedMatching +GARD:2816 Combined immunodeficiency due to DOCK8 deficiency skos:narrowMatch OMIM:243700 semapv:UnspecifiedMatching +GARD:2818 Hyperinsulinism due to glucokinase deficiency skos:exactMatch Orphanet:79299 semapv:UnspecifiedMatching +GARD:2818 Hyperinsulinism due to glucokinase deficiency skos:narrowMatch OMIM:602485 semapv:UnspecifiedMatching +GARD:282 Lethal osteosclerotic bone dysplasia skos:exactMatch Orphanet:1832 semapv:UnspecifiedMatching +GARD:282 Lethal osteosclerotic bone dysplasia skos:narrowMatch OMIM:259775 semapv:UnspecifiedMatching +GARD:2824 Hyperkeratosis lenticularis perstans skos:exactMatch Orphanet:409 semapv:UnspecifiedMatching +GARD:2824 Hyperkeratosis lenticularis perstans skos:narrowMatch OMIM:144150 semapv:UnspecifiedMatching +GARD:2826 Epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2199 semapv:UnspecifiedMatching +GARD:2826 Epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:144200 semapv:UnspecifiedMatching +GARD:2828 Hyperlysinemia skos:exactMatch Orphanet:2203 semapv:UnspecifiedMatching +GARD:2828 Hyperlysinemia skos:narrowMatch OMIM:238700 semapv:UnspecifiedMatching +GARD:2828 Hyperlysinemia skos:narrowMatch OMIM:238710 semapv:UnspecifiedMatching +GARD:2830 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch Orphanet:415 semapv:UnspecifiedMatching +GARD:2830 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:narrowMatch OMIM:238970 semapv:UnspecifiedMatching +GARD:2831 Juvenile Paget disease skos:exactMatch Orphanet:2801 semapv:UnspecifiedMatching +GARD:2831 Juvenile Paget disease skos:narrowMatch OMIM:239000 semapv:UnspecifiedMatching +GARD:2833 Hyperostosis corticalis generalisata skos:exactMatch Orphanet:3416 semapv:UnspecifiedMatching +GARD:2833 Hyperostosis corticalis generalisata skos:narrowMatch OMIM:239100 semapv:UnspecifiedMatching +GARD:2835 Primary hyperoxaluria type 1 skos:exactMatch Orphanet:93598 semapv:UnspecifiedMatching +GARD:2835 Primary hyperoxaluria type 1 skos:narrowMatch OMIM:259900 semapv:UnspecifiedMatching +GARD:2836 Primary hyperoxaluria type 2 skos:exactMatch Orphanet:93599 semapv:UnspecifiedMatching +GARD:2836 Primary hyperoxaluria type 2 skos:narrowMatch OMIM:260000 semapv:UnspecifiedMatching +GARD:2837 Familial primary hyperparathyroidism skos:exactMatch Orphanet:2207 semapv:UnspecifiedMatching +GARD:2838 Neonatal severe primary hyperparathyroidism skos:exactMatch Orphanet:417 semapv:UnspecifiedMatching +GARD:2838 Neonatal severe primary hyperparathyroidism skos:narrowMatch OMIM:239200 semapv:UnspecifiedMatching +GARD:2838 Neonatal severe primary hyperparathyroidism skos:narrowMatch OMIM:618188 semapv:UnspecifiedMatching +GARD:284 Lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch Orphanet:86915 semapv:UnspecifiedMatching +GARD:284 Lymphedema-atrial septal defects-facial changes syndrome skos:narrowMatch OMIM:601927 semapv:UnspecifiedMatching +GARD:2843 Pterin-4 alpha-carbinolamine dehydratase deficiency skos:exactMatch Orphanet:1578 semapv:UnspecifiedMatching +GARD:2843 Pterin-4 alpha-carbinolamine dehydratase deficiency skos:narrowMatch OMIM:264070 semapv:UnspecifiedMatching +GARD:2844 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 semapv:UnspecifiedMatching +GARD:2844 GTP cyclohydrolase I deficiency skos:narrowMatch OMIM:233910 semapv:UnspecifiedMatching +GARD:2847 Hyperprolinemia type 1 skos:exactMatch Orphanet:419 semapv:UnspecifiedMatching +GARD:2847 Hyperprolinemia type 1 skos:narrowMatch OMIM:239500 semapv:UnspecifiedMatching +GARD:2856 Maternal hyperthermia-induced birth defects skos:exactMatch Orphanet:2216 semapv:UnspecifiedMatching +GARD:2858 Familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch Orphanet:424 semapv:UnspecifiedMatching +GARD:2858 Familial hyperthyroidism due to mutations in TSH receptor skos:narrowMatch OMIM:609152 semapv:UnspecifiedMatching +GARD:2863 X-linked congenital generalized hypertrichosis skos:exactMatch Orphanet:79495 semapv:UnspecifiedMatching +GARD:2863 X-linked congenital generalized hypertrichosis skos:narrowMatch OMIM:307150 semapv:UnspecifiedMatching +GARD:2864 Acquired hypertrichosis lanuginosa skos:exactMatch Orphanet:2221 semapv:UnspecifiedMatching +GARD:2865 Hypertrichosis lanuginosa congenita skos:exactMatch Orphanet:2222 semapv:UnspecifiedMatching +GARD:2865 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:145700 semapv:UnspecifiedMatching +GARD:2865 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:145701 semapv:UnspecifiedMatching +GARD:2865 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:307150 semapv:UnspecifiedMatching +GARD:287 Hypertelorism-hypospadias-polysyndactyly syndrome skos:exactMatch Orphanet:2211 semapv:UnspecifiedMatching +GARD:287 Hypertelorism-hypospadias-polysyndactyly syndrome skos:narrowMatch OMIM:239710 semapv:UnspecifiedMatching +GARD:2871 Hypertryptophanemia skos:exactMatch Orphanet:2224 semapv:UnspecifiedMatching +GARD:2871 Hypertryptophanemia skos:narrowMatch OMIM:600627 semapv:UnspecifiedMatching +GARD:2872 Apolipoprotein A-I deficiency skos:exactMatch Orphanet:425 semapv:UnspecifiedMatching +GARD:2872 Apolipoprotein A-I deficiency skos:narrowMatch OMIM:604091 semapv:UnspecifiedMatching +GARD:2872 Apolipoprotein A-I deficiency skos:narrowMatch OMIM:618463 semapv:UnspecifiedMatching +GARD:2876 Hypobetalipoproteinemia, familial, 1 skos:broadMatch Orphanet:14 semapv:UnspecifiedMatching +GARD:2876 Hypobetalipoproteinemia, familial, 1 skos:exactMatch OMIM:615558 semapv:UnspecifiedMatching +GARD:2877 Autosomal dominant hypocalcemia skos:exactMatch Orphanet:428 semapv:UnspecifiedMatching +GARD:2877 Autosomal dominant hypocalcemia skos:narrowMatch OMIM:601198 semapv:UnspecifiedMatching +GARD:2877 Autosomal dominant hypocalcemia skos:narrowMatch OMIM:615361 semapv:UnspecifiedMatching +GARD:2878 Familial hypocalciuric hypercalcemia type 3 skos:exactMatch Orphanet:101050 semapv:UnspecifiedMatching +GARD:2878 Familial hypocalciuric hypercalcemia type 3 skos:narrowMatch OMIM:600740 semapv:UnspecifiedMatching +GARD:288 Hallermann-Streiff syndrome skos:exactMatch Orphanet:2108 semapv:UnspecifiedMatching +GARD:288 Hallermann-Streiff syndrome skos:narrowMatch OMIM:234100 semapv:UnspecifiedMatching +GARD:2882 Achondrogenesis skos:exactMatch Orphanet:932 semapv:UnspecifiedMatching +GARD:2882 Achondrogenesis skos:narrowMatch OMIM:200600 semapv:UnspecifiedMatching +GARD:2882 Achondrogenesis skos:narrowMatch OMIM:200610 semapv:UnspecifiedMatching +GARD:2882 Achondrogenesis skos:narrowMatch OMIM:600972 semapv:UnspecifiedMatching +GARD:2887 Familial hypofibrinogenemia skos:exactMatch Orphanet:101041 semapv:UnspecifiedMatching +GARD:2887 Familial hypofibrinogenemia skos:narrowMatch OMIM:202400 semapv:UnspecifiedMatching +GARD:2897 Hypogonadotropic hypogonadism 7 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:2897 Hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch OMIM:146110 semapv:UnspecifiedMatching +GARD:29 CHARGE syndrome skos:exactMatch Orphanet:138 semapv:UnspecifiedMatching +GARD:29 CHARGE syndrome skos:narrowMatch OMIM:214800 semapv:UnspecifiedMatching +GARD:290 Hallermann-Streiff-like syndrome skos:exactMatch Orphanet:2109 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:115200 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:302045 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:600884 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601154 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601493 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601494 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604145 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604288 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604765 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:605582 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:606685 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:607482 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:608569 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:609909 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:609915 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611407 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611615 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611878 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611879 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611880 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:612158 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:612877 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613122 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613172 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613252 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613286 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613424 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613426 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613642 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613694 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613697 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613881 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:614672 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615184 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615235 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615248 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615373 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615396 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615916 semapv:UnspecifiedMatching +GARD:2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:618189 semapv:UnspecifiedMatching +GARD:2906 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement skos:exactMatch Orphanet:31043 semapv:UnspecifiedMatching +GARD:2906 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement skos:narrowMatch OMIM:248250 semapv:UnspecifiedMatching +GARD:2907 Hypomandibular faciocranial dysostosis skos:exactMatch Orphanet:1790 semapv:UnspecifiedMatching +GARD:2907 Hypomandibular faciocranial dysostosis skos:narrowMatch OMIM:241310 semapv:UnspecifiedMatching +GARD:2908 Müllerian duct anomalies-limb anomalies syndrome skos:exactMatch Orphanet:2491 semapv:UnspecifiedMatching +GARD:2908 Müllerian duct anomalies-limb anomalies syndrome skos:narrowMatch OMIM:146160 semapv:UnspecifiedMatching +GARD:2910 Familial isolated hypoparathyroidism skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching +GARD:2910 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:146200 semapv:UnspecifiedMatching +GARD:2910 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:307700 semapv:UnspecifiedMatching +GARD:2910 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:601198 semapv:UnspecifiedMatching +GARD:2910 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:615361 semapv:UnspecifiedMatching +GARD:2911 Hypoparathyroidism-sensorineural deafness-renal disease syndrome skos:exactMatch Orphanet:2237 semapv:UnspecifiedMatching +GARD:2911 Hypoparathyroidism-sensorineural deafness-renal disease syndrome skos:narrowMatch OMIM:146255 semapv:UnspecifiedMatching +GARD:2914 Hypoparathyroidism, x-linked skos:broadMatch Orphanet:2239 semapv:UnspecifiedMatching +GARD:2914 Hypoparathyroidism, x-linked skos:exactMatch OMIM:307700 semapv:UnspecifiedMatching +GARD:292 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch Orphanet:2269 semapv:UnspecifiedMatching +GARD:292 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:narrowMatch OMIM:242510 semapv:UnspecifiedMatching +GARD:2922 Hypoplastic right heart syndrome skos:exactMatch Orphanet:98723 semapv:UnspecifiedMatching +GARD:2926 Congenital factor II deficiency skos:exactMatch Orphanet:325 semapv:UnspecifiedMatching +GARD:2926 Congenital factor II deficiency skos:narrowMatch OMIM:613679 semapv:UnspecifiedMatching +GARD:2928 Hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch Orphanet:2261 semapv:UnspecifiedMatching +GARD:2928 Hypospadias-intellectual disability, Goldblatt type syndrome skos:narrowMatch OMIM:241760 semapv:UnspecifiedMatching +GARD:2930 Schilbach-Rott syndrome skos:exactMatch Orphanet:2353 semapv:UnspecifiedMatching +GARD:2930 Schilbach-Rott syndrome skos:narrowMatch OMIM:164220 semapv:UnspecifiedMatching +GARD:2943 Hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch Orphanet:206428 semapv:UnspecifiedMatching +GARD:2945 ICF syndrome skos:exactMatch Orphanet:2268 semapv:UnspecifiedMatching +GARD:2945 ICF syndrome skos:narrowMatch OMIM:242860 semapv:UnspecifiedMatching +GARD:2945 ICF syndrome skos:narrowMatch OMIM:614069 semapv:UnspecifiedMatching +GARD:2945 ICF syndrome skos:narrowMatch OMIM:616910 semapv:UnspecifiedMatching +GARD:2945 ICF syndrome skos:narrowMatch OMIM:616911 semapv:UnspecifiedMatching +GARD:2946 Keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:broadMatch Orphanet:477 semapv:UnspecifiedMatching +GARD:2946 Keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch OMIM:242150 semapv:UnspecifiedMatching +GARD:2952 Ichthyosis follicularis-alopecia-photophobia syndrome skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching +GARD:2952 Ichthyosis follicularis-alopecia-photophobia syndrome skos:narrowMatch OMIM:308205 semapv:UnspecifiedMatching +GARD:2952 Ichthyosis follicularis-alopecia-photophobia syndrome skos:narrowMatch OMIM:619016 semapv:UnspecifiedMatching +GARD:2954 Ichthyosis hystrix of Curth-Macklin skos:exactMatch Orphanet:79503 semapv:UnspecifiedMatching +GARD:2954 Ichthyosis hystrix of Curth-Macklin skos:narrowMatch OMIM:146590 semapv:UnspecifiedMatching +GARD:296 Short tarsus-absence of lower eyelashes syndrome skos:exactMatch Orphanet:2832 semapv:UnspecifiedMatching +GARD:296 Short tarsus-absence of lower eyelashes syndrome skos:narrowMatch OMIM:600269 semapv:UnspecifiedMatching +GARD:2960 Ichthyosis-oral and digital anomalies syndrome skos:exactMatch Orphanet:2272 semapv:UnspecifiedMatching +GARD:2960 Ichthyosis-oral and digital anomalies syndrome skos:narrowMatch OMIM:258840 semapv:UnspecifiedMatching +GARD:2966 Superficial epidermolytic ichthyosis skos:exactMatch Orphanet:455 semapv:UnspecifiedMatching +GARD:2966 Superficial epidermolytic ichthyosis skos:narrowMatch OMIM:146800 semapv:UnspecifiedMatching +GARD:2978 Anterior segment dysgenesis 3 skos:broadMatch Orphanet:91483 semapv:UnspecifiedMatching +GARD:2978 Anterior segment dysgenesis 3 skos:broadMatch Orphanet:98978 semapv:UnspecifiedMatching +GARD:2978 Anterior segment dysgenesis 3 skos:exactMatch OMIM:601631 semapv:UnspecifiedMatching +GARD:298 Hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch Orphanet:2410 semapv:UnspecifiedMatching +GARD:298 Hypergonadotropic hypogonadism-cataract syndrome skos:narrowMatch OMIM:240950 semapv:UnspecifiedMatching +GARD:2981 Ciliary dyskinesia with defective radial spokes skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:2981 Ciliary dyskinesia with defective radial spokes skos:exactMatch OMIM:242670 semapv:UnspecifiedMatching +GARD:2982 Ciliary dyskinesia with excessively long cilia skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:2982 Ciliary dyskinesia with excessively long cilia skos:exactMatch OMIM:242680 semapv:UnspecifiedMatching +GARD:2984 Immune deficiency, familial variable skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:2984 Immune deficiency, familial variable skos:exactMatch OMIM:146830 semapv:UnspecifiedMatching +GARD:2988 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch Orphanet:935 semapv:UnspecifiedMatching +GARD:2988 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:narrowMatch OMIM:200900 semapv:UnspecifiedMatching +GARD:2989 Imperforate oropharynx-costovertebral anomalies syndrome skos:exactMatch Orphanet:2759 semapv:UnspecifiedMatching +GARD:299 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch Orphanet:231556 semapv:UnspecifiedMatching +GARD:299 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:narrowMatch OMIM:226440 semapv:UnspecifiedMatching +GARD:2995 Early-onset progressive encephalopathy with migrant continuous myoclonus skos:exactMatch Orphanet:1943 semapv:UnspecifiedMatching +GARD:2998 Infantile myofibromatosis skos:exactMatch Orphanet:2591 semapv:UnspecifiedMatching +GARD:2998 Infantile myofibromatosis skos:narrowMatch OMIM:228550 semapv:UnspecifiedMatching +GARD:2998 Infantile myofibromatosis skos:narrowMatch OMIM:615293 semapv:UnspecifiedMatching +GARD:3 Ablepharon macrostomia syndrome skos:exactMatch Orphanet:920 semapv:UnspecifiedMatching +GARD:3 Ablepharon macrostomia syndrome skos:narrowMatch OMIM:200110 semapv:UnspecifiedMatching +GARD:3002 Infantile spasms-broad thumbs syndrome skos:exactMatch Orphanet:3173 semapv:UnspecifiedMatching +GARD:3006 Hereditary sensory and autonomic neuropathy type 4 skos:exactMatch Orphanet:642 semapv:UnspecifiedMatching +GARD:3006 Hereditary sensory and autonomic neuropathy type 4 skos:narrowMatch OMIM:256800 semapv:UnspecifiedMatching +GARD:3007 Mosaic variegated aneuploidy syndrome skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching +GARD:3007 Mosaic variegated aneuploidy syndrome skos:narrowMatch OMIM:257300 semapv:UnspecifiedMatching +GARD:3007 Mosaic variegated aneuploidy syndrome skos:narrowMatch OMIM:614114 semapv:UnspecifiedMatching +GARD:3007 Mosaic variegated aneuploidy syndrome skos:narrowMatch OMIM:617598 semapv:UnspecifiedMatching +GARD:3008 Insulin-resistance syndrome type A skos:exactMatch Orphanet:2297 semapv:UnspecifiedMatching +GARD:3008 Insulin-resistance syndrome type A skos:narrowMatch OMIM:610549 semapv:UnspecifiedMatching +GARD:3009 Insulin-resistance syndrome type B skos:exactMatch Orphanet:2298 semapv:UnspecifiedMatching +GARD:3010 Insulinoma skos:exactMatch Orphanet:97279 semapv:UnspecifiedMatching +GARD:3012 Internal carotid absence skos:exactMatch Orphanet:981 semapv:UnspecifiedMatching +GARD:3013 Multiple intestinal atresia skos:exactMatch Orphanet:2300 semapv:UnspecifiedMatching +GARD:3013 Multiple intestinal atresia skos:narrowMatch OMIM:243150 semapv:UnspecifiedMatching +GARD:3017 Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked skos:broadMatch Orphanet:2301 semapv:UnspecifiedMatching +GARD:3017 Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked skos:exactMatch OMIM:300048 semapv:UnspecifiedMatching +GARD:302 Kostmann syndrome skos:exactMatch Orphanet:99749 semapv:UnspecifiedMatching +GARD:302 Kostmann syndrome skos:narrowMatch OMIM:610738 semapv:UnspecifiedMatching +GARD:3020 Cerebral arteriovenous malformation skos:exactMatch Orphanet:46724 semapv:UnspecifiedMatching +GARD:3020 Cerebral arteriovenous malformation skos:narrowMatch OMIM:108010 semapv:UnspecifiedMatching +GARD:3024 Congenital intrinsic factor deficiency skos:exactMatch Orphanet:332 semapv:UnspecifiedMatching +GARD:3024 Congenital intrinsic factor deficiency skos:narrowMatch OMIM:243320 semapv:UnspecifiedMatching +GARD:3024 Congenital intrinsic factor deficiency skos:narrowMatch OMIM:261000 semapv:UnspecifiedMatching +GARD:3026 Anterior segment dysgenesis 4 skos:broadMatch Orphanet:91483 semapv:UnspecifiedMatching +GARD:3026 Anterior segment dysgenesis 4 skos:exactMatch OMIM:137600 semapv:UnspecifiedMatching +GARD:3030 Coxopodopatellar syndrome skos:exactMatch Orphanet:1509 semapv:UnspecifiedMatching +GARD:3030 Coxopodopatellar syndrome skos:narrowMatch OMIM:147891 semapv:UnspecifiedMatching +GARD:3033 Isosporiasis skos:exactMatch Orphanet:472 semapv:UnspecifiedMatching +GARD:304 Blau syndrome skos:exactMatch Orphanet:90340 semapv:UnspecifiedMatching +GARD:304 Blau syndrome skos:narrowMatch OMIM:186580 semapv:UnspecifiedMatching +GARD:3045 CLN2 disease skos:exactMatch Orphanet:228349 semapv:UnspecifiedMatching +GARD:3045 CLN2 disease skos:narrowMatch OMIM:204500 semapv:UnspecifiedMatching +GARD:3047 Spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch Orphanet:93314 semapv:UnspecifiedMatching +GARD:3047 Spondylometaphyseal dysplasia, Kozlowski type skos:narrowMatch OMIM:184252 semapv:UnspecifiedMatching +GARD:3048 Jervell and Lange-Nielsen syndrome skos:exactMatch Orphanet:90647 semapv:UnspecifiedMatching +GARD:3048 Jervell and Lange-Nielsen syndrome skos:narrowMatch OMIM:220400 semapv:UnspecifiedMatching +GARD:3048 Jervell and Lange-Nielsen syndrome skos:narrowMatch OMIM:612347 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:exactMatch Orphanet:474 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:208500 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:611263 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:613091 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:613819 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:614376 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:615630 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:615633 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:616300 semapv:UnspecifiedMatching +GARD:3049 Jeune syndrome skos:narrowMatch OMIM:617088 semapv:UnspecifiedMatching +GARD:305 Conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch Orphanet:3236 semapv:UnspecifiedMatching +GARD:305 Conductive deafness-ptosis-skeletal anomalies syndrome skos:narrowMatch OMIM:221320 semapv:UnspecifiedMatching +GARD:3051 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch Orphanet:1112 semapv:UnspecifiedMatching +GARD:3051 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:narrowMatch OMIM:207620 semapv:UnspecifiedMatching +GARD:3053 Arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch Orphanet:1485 semapv:UnspecifiedMatching +GARD:3053 Arthrogryposis-hyperkeratosis syndrome, lethal form skos:narrowMatch OMIM:208158 semapv:UnspecifiedMatching +GARD:3054 Familial articular hypermobility syndrome skos:exactMatch Orphanet:2295 semapv:UnspecifiedMatching +GARD:3054 Familial articular hypermobility syndrome skos:narrowMatch OMIM:147900 semapv:UnspecifiedMatching +GARD:3056 Gingival fibromatosis-progressive deafness syndrome skos:exactMatch Orphanet:2027 semapv:UnspecifiedMatching +GARD:3056 Gingival fibromatosis-progressive deafness syndrome skos:narrowMatch OMIM:135550 semapv:UnspecifiedMatching +GARD:306 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome skos:exactMatch Orphanet:2848 semapv:UnspecifiedMatching +GARD:306 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome skos:narrowMatch OMIM:208250 semapv:UnspecifiedMatching +GARD:3060 Juberg-Hayward syndrome skos:exactMatch Orphanet:2319 semapv:UnspecifiedMatching +GARD:3060 Juberg-Hayward syndrome skos:narrowMatch OMIM:216100 semapv:UnspecifiedMatching +GARD:3062 Jung syndrome skos:exactMatch Orphanet:2321 semapv:UnspecifiedMatching +GARD:3062 Jung syndrome skos:narrowMatch OMIM:601427 semapv:UnspecifiedMatching +GARD:3065 Juvenile polyposis syndrome skos:exactMatch Orphanet:2929 semapv:UnspecifiedMatching +GARD:3065 Juvenile polyposis syndrome skos:narrowMatch OMIM:174900 semapv:UnspecifiedMatching +GARD:3065 Juvenile polyposis syndrome skos:narrowMatch OMIM:175050 semapv:UnspecifiedMatching +GARD:3065 Juvenile polyposis syndrome skos:narrowMatch OMIM:612242 semapv:UnspecifiedMatching +GARD:3066 Hypotrichosis with juvenile macular degeneration skos:exactMatch Orphanet:1573 semapv:UnspecifiedMatching +GARD:3066 Hypotrichosis with juvenile macular degeneration skos:narrowMatch OMIM:601553 semapv:UnspecifiedMatching +GARD:3068 Juvenile temporal arteritis skos:exactMatch Orphanet:26137 semapv:UnspecifiedMatching +GARD:307 Jacobsen syndrome skos:exactMatch Orphanet:2308 semapv:UnspecifiedMatching +GARD:307 Jacobsen syndrome skos:narrowMatch OMIM:147791 semapv:UnspecifiedMatching +GARD:3070 Hypogonadotropic hypogonadism 2 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:3070 Hypogonadotropic hypogonadism 2 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:3070 Hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch OMIM:147950 semapv:UnspecifiedMatching +GARD:3071 Hypogonadotropic hypogonadism 1 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:3071 Hypogonadotropic hypogonadism 1 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:3071 Hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch OMIM:308700 semapv:UnspecifiedMatching +GARD:3073 Hypogonadotropic hypogonadism 3 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +GARD:3073 Hypogonadotropic hypogonadism 3 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +GARD:3073 Hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch OMIM:244200 semapv:UnspecifiedMatching +GARD:3074 Mesomelic dysplasia, Kantaputra type skos:exactMatch Orphanet:1836 semapv:UnspecifiedMatching +GARD:3074 Mesomelic dysplasia, Kantaputra type skos:narrowMatch OMIM:156232 semapv:UnspecifiedMatching +GARD:3074 Mesomelic dysplasia, Kantaputra type skos:narrowMatch OMIM:613681 semapv:UnspecifiedMatching +GARD:3075 Acrocraniofacial dysostosis skos:exactMatch Orphanet:949 semapv:UnspecifiedMatching +GARD:3075 Acrocraniofacial dysostosis skos:narrowMatch OMIM:201050 semapv:UnspecifiedMatching +GARD:3077 Kaposiform hemangioendothelioma skos:exactMatch Orphanet:2122 semapv:UnspecifiedMatching +GARD:3078 Kapur-Toriello syndrome skos:exactMatch Orphanet:2328 semapv:UnspecifiedMatching +GARD:3078 Kapur-Toriello syndrome skos:narrowMatch OMIM:244300 semapv:UnspecifiedMatching +GARD:3084 Oculocerebrofacial syndrome, Kaufman type skos:exactMatch Orphanet:2707 semapv:UnspecifiedMatching +GARD:3084 Oculocerebrofacial syndrome, Kaufman type skos:narrowMatch OMIM:244450 semapv:UnspecifiedMatching +GARD:3086 PAGOD syndrome skos:exactMatch Orphanet:991 semapv:UnspecifiedMatching +GARD:3086 PAGOD syndrome skos:narrowMatch OMIM:202660 semapv:UnspecifiedMatching +GARD:3089 Autosomal dominant keratitis skos:exactMatch Orphanet:2334 semapv:UnspecifiedMatching +GARD:3089 Autosomal dominant keratitis skos:narrowMatch OMIM:148190 semapv:UnspecifiedMatching +GARD:3090 Multiple self-healing squamous epithelioma skos:exactMatch Orphanet:65748 semapv:UnspecifiedMatching +GARD:3090 Multiple self-healing squamous epithelioma skos:narrowMatch OMIM:132800 semapv:UnspecifiedMatching +GARD:3092 Keratoderma hereditarium mutilans skos:exactMatch Orphanet:494 semapv:UnspecifiedMatching +GARD:3092 Keratoderma hereditarium mutilans skos:narrowMatch OMIM:124500 semapv:UnspecifiedMatching +GARD:3094 Palmoplantar keratoderma-deafness syndrome skos:exactMatch Orphanet:2202 semapv:UnspecifiedMatching +GARD:3094 Palmoplantar keratoderma-deafness syndrome skos:narrowMatch OMIM:148350 semapv:UnspecifiedMatching +GARD:3095 Palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch Orphanet:2201 semapv:UnspecifiedMatching +GARD:3095 Palmoplantar keratoderma-spastic paralysis syndrome skos:narrowMatch OMIM:148360 semapv:UnspecifiedMatching +GARD:3096 Transgrediens et progrediens palmoplantar keratoderma skos:exactMatch Orphanet:495 semapv:UnspecifiedMatching +GARD:3096 Transgrediens et progrediens palmoplantar keratoderma skos:narrowMatch OMIM:133200 semapv:UnspecifiedMatching +GARD:3098 Focal palmoplantar and gingival keratoderma skos:exactMatch Orphanet:2200 semapv:UnspecifiedMatching +GARD:3098 Focal palmoplantar and gingival keratoderma skos:narrowMatch OMIM:148730 semapv:UnspecifiedMatching +GARD:3099 Keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch Orphanet:2339 semapv:UnspecifiedMatching +GARD:3099 Keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:narrowMatch OMIM:308830 semapv:UnspecifiedMatching +GARD:31 Serpiginous choroiditis skos:exactMatch Orphanet:35686 semapv:UnspecifiedMatching +GARD:310 CHIME syndrome skos:exactMatch Orphanet:3474 semapv:UnspecifiedMatching +GARD:310 CHIME syndrome skos:narrowMatch OMIM:280000 semapv:UnspecifiedMatching +GARD:3100 Papillon-Lefèvre syndrome skos:exactMatch Orphanet:678 semapv:UnspecifiedMatching +GARD:3100 Papillon-Lefèvre syndrome skos:narrowMatch OMIM:245000 semapv:UnspecifiedMatching +GARD:3102 Palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch Orphanet:2198 semapv:UnspecifiedMatching +GARD:3102 Palmoplantar keratoderma-esophageal carcinoma syndrome skos:narrowMatch OMIM:148500 semapv:UnspecifiedMatching +GARD:3103 Punctate palmoplantar keratoderma type 1 skos:exactMatch Orphanet:79501 semapv:UnspecifiedMatching +GARD:3103 Punctate palmoplantar keratoderma type 1 skos:narrowMatch OMIM:148600 semapv:UnspecifiedMatching +GARD:3103 Punctate palmoplantar keratoderma type 1 skos:narrowMatch OMIM:614936 semapv:UnspecifiedMatching +GARD:3105 Tyrosinemia type 2 skos:exactMatch Orphanet:28378 semapv:UnspecifiedMatching +GARD:3105 Tyrosinemia type 2 skos:narrowMatch OMIM:276600 semapv:UnspecifiedMatching +GARD:3109 Kerion celsi skos:exactMatch Orphanet:499 semapv:UnspecifiedMatching +GARD:3112 Anaplastic large cell lymphoma skos:exactMatch Orphanet:98841 semapv:UnspecifiedMatching +GARD:3113 KID syndrome skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching +GARD:3113 KID syndrome skos:narrowMatch OMIM:148210 semapv:UnspecifiedMatching +GARD:3113 KID syndrome skos:narrowMatch OMIM:242150 semapv:UnspecifiedMatching +GARD:3113 KID syndrome skos:narrowMatch OMIM:602540 semapv:UnspecifiedMatching +GARD:3117 Kleine-Levin syndrome skos:exactMatch Orphanet:33543 semapv:UnspecifiedMatching +GARD:3117 Kleine-Levin syndrome skos:narrowMatch OMIM:148840 semapv:UnspecifiedMatching +GARD:3118 Hallux varus-preaxial polysyndactyly syndrome skos:exactMatch Orphanet:2110 semapv:UnspecifiedMatching +GARD:3118 Hallux varus-preaxial polysyndactyly syndrome skos:narrowMatch OMIM:234280 semapv:UnspecifiedMatching +GARD:312 Robinow syndrome skos:exactMatch Orphanet:97360 semapv:UnspecifiedMatching +GARD:312 Robinow syndrome skos:narrowMatch OMIM:180700 semapv:UnspecifiedMatching +GARD:312 Robinow syndrome skos:narrowMatch OMIM:268310 semapv:UnspecifiedMatching +GARD:312 Robinow syndrome skos:narrowMatch OMIM:616331 semapv:UnspecifiedMatching +GARD:312 Robinow syndrome skos:narrowMatch OMIM:616894 semapv:UnspecifiedMatching +GARD:3122 Angioosteohypertrophic syndrome skos:exactMatch Orphanet:2346 semapv:UnspecifiedMatching +GARD:3122 Angioosteohypertrophic syndrome skos:narrowMatch OMIM:149000 semapv:UnspecifiedMatching +GARD:3122 Angioosteohypertrophic syndrome skos:narrowMatch OMIM:608354 semapv:UnspecifiedMatching +GARD:3124 Lethal Kniest-like dysplasia skos:exactMatch Orphanet:2347 semapv:UnspecifiedMatching +GARD:3124 Lethal Kniest-like dysplasia skos:narrowMatch OMIM:245190 semapv:UnspecifiedMatching +GARD:3125 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome skos:exactMatch Orphanet:2698 semapv:UnspecifiedMatching +GARD:3125 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome skos:narrowMatch OMIM:149200 semapv:UnspecifiedMatching +GARD:3126 Familial partial lipodystrophy, Dunnigan type skos:exactMatch Orphanet:2348 semapv:UnspecifiedMatching +GARD:3126 Familial partial lipodystrophy, Dunnigan type skos:narrowMatch OMIM:151660 semapv:UnspecifiedMatching +GARD:3128 Amelocerebrohypohidrotic syndrome skos:exactMatch Orphanet:1946 semapv:UnspecifiedMatching +GARD:3128 Amelocerebrohypohidrotic syndrome skos:narrowMatch OMIM:226750 semapv:UnspecifiedMatching +GARD:3129 Hereditary hyperekplexia skos:exactMatch Orphanet:3197 semapv:UnspecifiedMatching +GARD:3129 Hereditary hyperekplexia skos:narrowMatch OMIM:149400 semapv:UnspecifiedMatching +GARD:3129 Hereditary hyperekplexia skos:narrowMatch OMIM:614618 semapv:UnspecifiedMatching +GARD:3129 Hereditary hyperekplexia skos:narrowMatch OMIM:614619 semapv:UnspecifiedMatching +GARD:3129 Hereditary hyperekplexia skos:narrowMatch OMIM:618011 semapv:UnspecifiedMatching +GARD:314 Saccharopinuria skos:exactMatch Orphanet:3124 semapv:UnspecifiedMatching +GARD:314 Saccharopinuria skos:narrowMatch OMIM:268700 semapv:UnspecifiedMatching +GARD:3141 Intellectual disability-polydactyly-uncombable hair syndrome skos:exactMatch Orphanet:3082 semapv:UnspecifiedMatching +GARD:3150 Kuskokwim syndrome skos:exactMatch Orphanet:1149 semapv:UnspecifiedMatching +GARD:3150 Kuskokwim syndrome skos:narrowMatch OMIM:259450 semapv:UnspecifiedMatching +GARD:3159 Glycogen storage disease due to lactate dehydrogenase deficiency skos:exactMatch Orphanet:2364 semapv:UnspecifiedMatching +GARD:3159 Glycogen storage disease due to lactate dehydrogenase deficiency skos:narrowMatch OMIM:612933 semapv:UnspecifiedMatching +GARD:3159 Glycogen storage disease due to lactate dehydrogenase deficiency skos:narrowMatch OMIM:614128 semapv:UnspecifiedMatching +GARD:3160 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch Orphanet:284426 semapv:UnspecifiedMatching +GARD:3160 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:narrowMatch OMIM:612933 semapv:UnspecifiedMatching +GARD:3161 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch Orphanet:284435 semapv:UnspecifiedMatching +GARD:3161 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:narrowMatch OMIM:614128 semapv:UnspecifiedMatching +GARD:3163 Fatal infantile lactic acidosis with methylmalonic aciduria skos:exactMatch Orphanet:17 semapv:UnspecifiedMatching +GARD:3163 Fatal infantile lactic acidosis with methylmalonic aciduria skos:narrowMatch OMIM:245400 semapv:UnspecifiedMatching +GARD:3169 Lambert syndrome skos:exactMatch Orphanet:1296 semapv:UnspecifiedMatching +GARD:3169 Lambert syndrome skos:narrowMatch OMIM:245550 semapv:UnspecifiedMatching +GARD:3170 Ichthyosis, congenital, autosomal recessive 1 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +GARD:3170 Ichthyosis, congenital, autosomal recessive 1 skos:exactMatch OMIM:242300 semapv:UnspecifiedMatching +GARD:3178 Diffuse large B-cell lymphoma skos:exactMatch Orphanet:544 semapv:UnspecifiedMatching +GARD:3181 Lethal Larsen-like syndrome skos:exactMatch Orphanet:2371 semapv:UnspecifiedMatching +GARD:3181 Lethal Larsen-like syndrome skos:narrowMatch OMIM:245650 semapv:UnspecifiedMatching +GARD:3188 Laryngotracheoesophageal cleft skos:exactMatch Orphanet:2004 semapv:UnspecifiedMatching +GARD:3188 Laryngotracheoesophageal cleft skos:narrowMatch OMIM:215800 semapv:UnspecifiedMatching +GARD:319 Sacrococcygeal teratoma skos:exactMatch Orphanet:494421 semapv:UnspecifiedMatching +GARD:3191 Laryngocele skos:exactMatch Orphanet:2372 semapv:UnspecifiedMatching +GARD:3194 Larynx atresia skos:exactMatch Orphanet:1202 semapv:UnspecifiedMatching +GARD:3194 Larynx atresia skos:narrowMatch OMIM:150300 semapv:UnspecifiedMatching +GARD:3195 Graham Little-Piccardi-Lassueur syndrome skos:exactMatch Orphanet:505 semapv:UnspecifiedMatching +GARD:3196 Retinal cone dystrophy 1 skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +GARD:3196 Retinal cone dystrophy 1 skos:exactMatch OMIM:180020 semapv:UnspecifiedMatching +GARD:320 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch Orphanet:2256 semapv:UnspecifiedMatching +GARD:320 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:narrowMatch OMIM:228940 semapv:UnspecifiedMatching +GARD:3203 Early-onset parkinsonism-intellectual disability syndrome skos:exactMatch Orphanet:2379 semapv:UnspecifiedMatching +GARD:3203 Early-onset parkinsonism-intellectual disability syndrome skos:narrowMatch OMIM:311510 semapv:UnspecifiedMatching +GARD:321 Nail-patella-like renal disease skos:exactMatch Orphanet:2613 semapv:UnspecifiedMatching +GARD:321 Nail-patella-like renal disease skos:narrowMatch OMIM:256020 semapv:UnspecifiedMatching +GARD:3212 Branchio-oculo-facial syndrome skos:exactMatch Orphanet:1297 semapv:UnspecifiedMatching +GARD:3212 Branchio-oculo-facial syndrome skos:narrowMatch OMIM:113620 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:exactMatch Orphanet:3156 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:266900 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:606995 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:606996 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:609254 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:610189 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:613615 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:614845 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:616307 semapv:UnspecifiedMatching +GARD:322 Senior-Loken syndrome skos:narrowMatch OMIM:616629 semapv:UnspecifiedMatching +GARD:3223 Lenz-Majewski hyperostotic dwarfism skos:exactMatch Orphanet:2658 semapv:UnspecifiedMatching +GARD:3223 Lenz-Majewski hyperostotic dwarfism skos:narrowMatch OMIM:151050 semapv:UnspecifiedMatching +GARD:3224 Léri-Weill dyschondrosteosis skos:exactMatch Orphanet:240 semapv:UnspecifiedMatching +GARD:3224 Léri-Weill dyschondrosteosis skos:narrowMatch OMIM:127300 semapv:UnspecifiedMatching +GARD:3227 Lethal congenital contracture syndrome type 1 skos:exactMatch Orphanet:1486 semapv:UnspecifiedMatching +GARD:3227 Lethal congenital contracture syndrome type 1 skos:narrowMatch OMIM:253310 semapv:UnspecifiedMatching +GARD:3228 Maple syrup urine disease skos:exactMatch Orphanet:511 semapv:UnspecifiedMatching +GARD:3228 Maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +GARD:3228 Maple syrup urine disease skos:narrowMatch OMIM:615135 semapv:UnspecifiedMatching +GARD:3230 Metachromatic leukodystrophy skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching +GARD:3230 Metachromatic leukodystrophy skos:narrowMatch OMIM:156310 semapv:UnspecifiedMatching +GARD:3230 Metachromatic leukodystrophy skos:narrowMatch OMIM:249900 semapv:UnspecifiedMatching +GARD:3230 Metachromatic leukodystrophy skos:narrowMatch OMIM:250100 semapv:UnspecifiedMatching +GARD:3231 Ravine syndrome skos:exactMatch Orphanet:99852 semapv:UnspecifiedMatching +GARD:3232 Leukoencephalopathy-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:2386 semapv:UnspecifiedMatching +GARD:3236 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch Orphanet:2743 semapv:UnspecifiedMatching +GARD:3236 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:narrowMatch OMIM:165150 semapv:UnspecifiedMatching +GARD:324 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:exactMatch Orphanet:2230 semapv:UnspecifiedMatching +GARD:3242 Autosomal dominant popliteal pterygium syndrome skos:exactMatch Orphanet:1300 semapv:UnspecifiedMatching +GARD:3242 Autosomal dominant popliteal pterygium syndrome skos:narrowMatch OMIM:119500 semapv:UnspecifiedMatching +GARD:3244 Leydig cell hypoplasia skos:exactMatch Orphanet:755 semapv:UnspecifiedMatching +GARD:3244 Leydig cell hypoplasia skos:narrowMatch OMIM:238320 semapv:UnspecifiedMatching +GARD:3247 Lichen planopilaris skos:exactMatch Orphanet:525 semapv:UnspecifiedMatching +GARD:3248 Lichtenstein syndrome skos:exactMatch Orphanet:2390 semapv:UnspecifiedMatching +GARD:3248 Lichtenstein syndrome skos:narrowMatch OMIM:246550 semapv:UnspecifiedMatching +GARD:325 Twin to twin transfusion syndrome skos:exactMatch Orphanet:95431 semapv:UnspecifiedMatching +GARD:3251 Limb body wall complex skos:exactMatch Orphanet:2369 semapv:UnspecifiedMatching +GARD:3252 Distal limb deficiencies-micrognathia syndrome skos:exactMatch Orphanet:1307 semapv:UnspecifiedMatching +GARD:3252 Distal limb deficiencies-micrognathia syndrome skos:narrowMatch OMIM:246560 semapv:UnspecifiedMatching +GARD:3259 Linear verrucous nevus syndrome skos:exactMatch Orphanet:2611 semapv:UnspecifiedMatching +GARD:3262 Neutral lipid storage disease skos:exactMatch Orphanet:165 semapv:UnspecifiedMatching +GARD:3263 Pyruvate dehydrogenase E3 deficiency skos:exactMatch Orphanet:2394 semapv:UnspecifiedMatching +GARD:3263 Pyruvate dehydrogenase E3 deficiency skos:narrowMatch OMIM:246900 semapv:UnspecifiedMatching +GARD:3268 Lipoid proteinosis skos:exactMatch Orphanet:530 semapv:UnspecifiedMatching +GARD:3268 Lipoid proteinosis skos:narrowMatch OMIM:247100 semapv:UnspecifiedMatching +GARD:3277 Cobblestone lissencephaly skos:exactMatch Orphanet:51577 semapv:UnspecifiedMatching +GARD:3283 Loiasis skos:exactMatch Orphanet:2404 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:192500 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:600919 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:603830 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:611818 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:611819 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:611820 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:612955 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:613485 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:613688 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:613693 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:613695 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:616247 semapv:UnspecifiedMatching +GARD:3284 Romano-Ward syndrome skos:narrowMatch OMIM:616249 semapv:UnspecifiedMatching +GARD:3285 Long qt syndrome 2 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:3285 Long qt syndrome 2 skos:exactMatch OMIM:613688 semapv:UnspecifiedMatching +GARD:3286 Long qt syndrome 3 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +GARD:3286 Long qt syndrome 3 skos:exactMatch OMIM:603830 semapv:UnspecifiedMatching +GARD:3287 Loose anagen syndrome skos:exactMatch Orphanet:168 semapv:UnspecifiedMatching +GARD:3287 Loose anagen syndrome skos:narrowMatch OMIM:600628 semapv:UnspecifiedMatching +GARD:329 Wells syndrome skos:exactMatch Orphanet:901 semapv:UnspecifiedMatching +GARD:3295 Oculocerebrorenal syndrome of Lowe skos:exactMatch Orphanet:534 semapv:UnspecifiedMatching +GARD:3295 Oculocerebrorenal syndrome of Lowe skos:narrowMatch OMIM:309000 semapv:UnspecifiedMatching +GARD:330 Wiedemann-Rautenstrauch syndrome skos:exactMatch Orphanet:3455 semapv:UnspecifiedMatching +GARD:330 Wiedemann-Rautenstrauch syndrome skos:narrowMatch OMIM:264090 semapv:UnspecifiedMatching +GARD:3300 Lowry-MacLean syndrome skos:exactMatch Orphanet:2409 semapv:UnspecifiedMatching +GARD:3300 Lowry-MacLean syndrome skos:narrowMatch OMIM:600252 semapv:UnspecifiedMatching +GARD:3303 Cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch Orphanet:2575 semapv:UnspecifiedMatching +GARD:3303 Cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:narrowMatch OMIM:219721 semapv:UnspecifiedMatching +GARD:3307 Lujan-Fryns syndrome skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching +GARD:3307 Lujan-Fryns syndrome skos:narrowMatch OMIM:300676 semapv:UnspecifiedMatching +GARD:3307 Lujan-Fryns syndrome skos:narrowMatch OMIM:300799 semapv:UnspecifiedMatching +GARD:3307 Lujan-Fryns syndrome skos:narrowMatch OMIM:309520 semapv:UnspecifiedMatching +GARD:331 Yunis-Varon syndrome skos:exactMatch Orphanet:3472 semapv:UnspecifiedMatching +GARD:331 Yunis-Varon syndrome skos:narrowMatch OMIM:216340 semapv:UnspecifiedMatching +GARD:3314 Cerebellar ataxia-hypogonadism syndrome skos:exactMatch Orphanet:1173 semapv:UnspecifiedMatching +GARD:3314 Cerebellar ataxia-hypogonadism syndrome skos:narrowMatch OMIM:212840 semapv:UnspecifiedMatching +GARD:3314 Cerebellar ataxia-hypogonadism syndrome skos:narrowMatch OMIM:605672 semapv:UnspecifiedMatching +GARD:3318 Hennekam syndrome skos:exactMatch Orphanet:2136 semapv:UnspecifiedMatching +GARD:3318 Hennekam syndrome skos:narrowMatch OMIM:235510 semapv:UnspecifiedMatching +GARD:3318 Hennekam syndrome skos:narrowMatch OMIM:616006 semapv:UnspecifiedMatching +GARD:3318 Hennekam syndrome skos:narrowMatch OMIM:618154 semapv:UnspecifiedMatching +GARD:3319 Lymphangioleiomyomatosis skos:exactMatch Orphanet:538 semapv:UnspecifiedMatching +GARD:3319 Lymphangioleiomyomatosis skos:narrowMatch OMIM:606690 semapv:UnspecifiedMatching +GARD:332 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome skos:exactMatch Orphanet:1555 semapv:UnspecifiedMatching +GARD:332 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome skos:narrowMatch OMIM:123790 semapv:UnspecifiedMatching +GARD:3321 Lymphatic filariasis skos:exactMatch Orphanet:2035 semapv:UnspecifiedMatching +GARD:3324 Meige disease skos:exactMatch Orphanet:90186 semapv:UnspecifiedMatching +GARD:3324 Meige disease skos:narrowMatch OMIM:153200 semapv:UnspecifiedMatching +GARD:3328 Lymphatic malformation 1 skos:broadMatch Orphanet:79452 semapv:UnspecifiedMatching +GARD:3328 Lymphatic malformation 1 skos:exactMatch OMIM:153100 semapv:UnspecifiedMatching +GARD:333 Lymphedema-distichiasis syndrome skos:exactMatch Orphanet:33001 semapv:UnspecifiedMatching +GARD:333 Lymphedema-distichiasis syndrome skos:narrowMatch OMIM:153400 semapv:UnspecifiedMatching +GARD:3335 Lysinuric protein intolerance skos:exactMatch Orphanet:470 semapv:UnspecifiedMatching +GARD:3335 Lysinuric protein intolerance skos:narrowMatch OMIM:222700 semapv:UnspecifiedMatching +GARD:334 Dyschromatosis symmetrica hereditaria skos:exactMatch Orphanet:41 semapv:UnspecifiedMatching +GARD:334 Dyschromatosis symmetrica hereditaria skos:narrowMatch OMIM:127400 semapv:UnspecifiedMatching +GARD:3342 Macroglossia skos:exactMatch Orphanet:156207 semapv:UnspecifiedMatching +GARD:3343 Beckwith-Wiedemann syndrome skos:exactMatch Orphanet:116 semapv:UnspecifiedMatching +GARD:3343 Beckwith-Wiedemann syndrome skos:narrowMatch OMIM:130650 semapv:UnspecifiedMatching +GARD:3347 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch Orphanet:2435 semapv:UnspecifiedMatching +GARD:3348 Blepharophimosis-intellectual disability syndrome, Ohdo type skos:exactMatch Orphanet:2728 semapv:UnspecifiedMatching +GARD:3348 Blepharophimosis-intellectual disability syndrome, Ohdo type skos:narrowMatch OMIM:249620 semapv:UnspecifiedMatching +GARD:3350 Autosomal dominant primary hypomagnesemia with hypocalciuria skos:exactMatch Orphanet:34528 semapv:UnspecifiedMatching +GARD:3350 Autosomal dominant primary hypomagnesemia with hypocalciuria skos:narrowMatch OMIM:154020 semapv:UnspecifiedMatching +GARD:336 Autosomal recessive spastic paraplegia type 23 skos:exactMatch Orphanet:101003 semapv:UnspecifiedMatching +GARD:336 Autosomal recessive spastic paraplegia type 23 skos:narrowMatch OMIM:270750 semapv:UnspecifiedMatching +GARD:3361 Multiple pterygium-malignant hyperthermia syndrome skos:exactMatch Orphanet:2215 semapv:UnspecifiedMatching +GARD:3361 Multiple pterygium-malignant hyperthermia syndrome skos:narrowMatch OMIM:217150 semapv:UnspecifiedMatching +GARD:3363 Malignant hyperthermia, susceptibility to, 1 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +GARD:3363 Malignant hyperthermia, susceptibility to, 1 skos:exactMatch OMIM:145600 semapv:UnspecifiedMatching +GARD:3364 Malignant hyperthermia, susceptibility to, 2 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +GARD:3364 Malignant hyperthermia, susceptibility to, 2 skos:exactMatch OMIM:154275 semapv:UnspecifiedMatching +GARD:3365 Malignant hyperthermia, susceptibility to, 3 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +GARD:3365 Malignant hyperthermia, susceptibility to, 3 skos:exactMatch OMIM:154276 semapv:UnspecifiedMatching +GARD:3366 Malignant hyperthermia, susceptibility to, 4 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +GARD:3366 Malignant hyperthermia, susceptibility to, 4 skos:exactMatch OMIM:600467 semapv:UnspecifiedMatching +GARD:3367 Malignant hyperthermia, susceptibility to, 5 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +GARD:3367 Malignant hyperthermia, susceptibility to, 5 skos:exactMatch OMIM:601887 semapv:UnspecifiedMatching +GARD:3368 Malignant hyperthermia, susceptibility to, 6 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +GARD:3368 Malignant hyperthermia, susceptibility to, 6 skos:exactMatch OMIM:601888 semapv:UnspecifiedMatching +GARD:3371 Malonic aciduria skos:exactMatch Orphanet:943 semapv:UnspecifiedMatching +GARD:3371 Malonic aciduria skos:narrowMatch OMIM:248360 semapv:UnspecifiedMatching +GARD:3373 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2229 semapv:UnspecifiedMatching +GARD:3373 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:narrowMatch OMIM:212112 semapv:UnspecifiedMatching +GARD:3374 Mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch Orphanet:90153 semapv:UnspecifiedMatching +GARD:3374 Mandibuloacral dysplasia with type A lipodystrophy skos:narrowMatch OMIM:248370 semapv:UnspecifiedMatching +GARD:3378 Lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch Orphanet:1120 semapv:UnspecifiedMatching +GARD:3378 Lung agenesis-heart defect-thumb anomalies syndrome skos:narrowMatch OMIM:601612 semapv:UnspecifiedMatching +GARD:3382 Van den Ende-Gupta syndrome skos:exactMatch Orphanet:2460 semapv:UnspecifiedMatching +GARD:3382 Van den Ende-Gupta syndrome skos:narrowMatch OMIM:600920 semapv:UnspecifiedMatching +GARD:3388 Marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch Orphanet:2463 semapv:UnspecifiedMatching +GARD:3388 Marfanoid habitus-autosomal recessive intellectual disability syndrome skos:narrowMatch OMIM:248770 semapv:UnspecifiedMatching +GARD:3390 Marie Unna hereditary hypotrichosis skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching +GARD:3390 Marie Unna hereditary hypotrichosis skos:narrowMatch OMIM:146550 semapv:UnspecifiedMatching +GARD:3390 Marie Unna hereditary hypotrichosis skos:narrowMatch OMIM:612841 semapv:UnspecifiedMatching +GARD:3395 Oculotrichoanal syndrome skos:exactMatch Orphanet:2717 semapv:UnspecifiedMatching +GARD:3395 Oculotrichoanal syndrome skos:narrowMatch OMIM:248450 semapv:UnspecifiedMatching +GARD:3396 Osteocraniostenosis skos:exactMatch Orphanet:2763 semapv:UnspecifiedMatching +GARD:3396 Osteocraniostenosis skos:narrowMatch OMIM:602361 semapv:UnspecifiedMatching +GARD:3399 Lethal recessive chondrodysplasia skos:exactMatch Orphanet:1423 semapv:UnspecifiedMatching +GARD:3401 Marfanoid syndrome, De Silva type skos:exactMatch Orphanet:2464 semapv:UnspecifiedMatching +GARD:3401 Marfanoid syndrome, De Silva type skos:narrowMatch OMIM:223330 semapv:UnspecifiedMatching +GARD:3406 Cataract-intellectual disability-hypogonadism syndrome skos:exactMatch Orphanet:1387 semapv:UnspecifiedMatching +GARD:3406 Cataract-intellectual disability-hypogonadism syndrome skos:narrowMatch OMIM:212720 semapv:UnspecifiedMatching +GARD:3409 Hennekam-Beemer syndrome skos:exactMatch Orphanet:2135 semapv:UnspecifiedMatching +GARD:3409 Hennekam-Beemer syndrome skos:narrowMatch OMIM:248910 semapv:UnspecifiedMatching +GARD:341 Young syndrome skos:exactMatch Orphanet:3471 semapv:UnspecifiedMatching +GARD:341 Young syndrome skos:narrowMatch OMIM:279000 semapv:UnspecifiedMatching +GARD:3413 Maternal phenylketonuria skos:exactMatch Orphanet:2209 semapv:UnspecifiedMatching +GARD:3413 Maternal phenylketonuria skos:narrowMatch OMIM:261600 semapv:UnspecifiedMatching +GARD:3418 Maturity-onset diabetes of the young, type 1 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:3418 Maturity-onset diabetes of the young, type 1 skos:exactMatch OMIM:125850 semapv:UnspecifiedMatching +GARD:3424 McDonough syndrome skos:exactMatch Orphanet:2471 semapv:UnspecifiedMatching +GARD:3424 McDonough syndrome skos:narrowMatch OMIM:248950 semapv:UnspecifiedMatching +GARD:3426 Familial scaphocephaly syndrome, McGillivray type skos:exactMatch Orphanet:168624 semapv:UnspecifiedMatching +GARD:3426 Familial scaphocephaly syndrome, McGillivray type skos:narrowMatch OMIM:609579 semapv:UnspecifiedMatching +GARD:3427 McKusick-Kaufman syndrome skos:exactMatch Orphanet:2473 semapv:UnspecifiedMatching +GARD:3427 McKusick-Kaufman syndrome skos:narrowMatch OMIM:236700 semapv:UnspecifiedMatching +GARD:343 Pontocerebellar hypoplasia type 4 skos:exactMatch Orphanet:166063 semapv:UnspecifiedMatching +GARD:343 Pontocerebellar hypoplasia type 4 skos:narrowMatch OMIM:225753 semapv:UnspecifiedMatching +GARD:3430 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch Orphanet:2001 semapv:UnspecifiedMatching +GARD:3430 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:narrowMatch OMIM:601165 semapv:UnspecifiedMatching +GARD:3432 Meacham syndrome skos:exactMatch Orphanet:3097 semapv:UnspecifiedMatching +GARD:3432 Meacham syndrome skos:narrowMatch OMIM:608978 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:exactMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:249000 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:603194 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:607361 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:609345 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:611134 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:611561 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:612284 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:613885 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:614209 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:615397 semapv:UnspecifiedMatching +GARD:3436 Meckel syndrome skos:narrowMatch OMIM:617562 semapv:UnspecifiedMatching +GARD:3438 Dysraphism-cleft lip/palate-limb reduction defects syndrome skos:exactMatch Orphanet:2476 semapv:UnspecifiedMatching +GARD:3439 Pai syndrome skos:exactMatch Orphanet:1993 semapv:UnspecifiedMatching +GARD:3439 Pai syndrome skos:narrowMatch OMIM:155145 semapv:UnspecifiedMatching +GARD:344 Holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch Orphanet:2166 semapv:UnspecifiedMatching +GARD:344 Holoprosencephaly-postaxial polydactyly syndrome skos:narrowMatch OMIM:264480 semapv:UnspecifiedMatching +GARD:3440 Median nodule of the upper lip skos:exactMatch Orphanet:2699 semapv:UnspecifiedMatching +GARD:3440 Median nodule of the upper lip skos:narrowMatch OMIM:151630 semapv:UnspecifiedMatching +GARD:3442 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch Orphanet:2241 semapv:UnspecifiedMatching +GARD:3442 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:narrowMatch OMIM:249210 semapv:UnspecifiedMatching +GARD:3442 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:narrowMatch OMIM:619351 semapv:UnspecifiedMatching +GARD:3443 Familial visceral myopathy skos:exactMatch Orphanet:2604 semapv:UnspecifiedMatching +GARD:3443 Familial visceral myopathy skos:narrowMatch OMIM:155310 semapv:UnspecifiedMatching +GARD:3443 Familial visceral myopathy skos:narrowMatch OMIM:619350 semapv:UnspecifiedMatching +GARD:3445 Megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch Orphanet:2478 semapv:UnspecifiedMatching +GARD:3445 Megalencephalic leukoencephalopathy with subcortical cysts skos:narrowMatch OMIM:604004 semapv:UnspecifiedMatching +GARD:3445 Megalencephalic leukoencephalopathy with subcortical cysts skos:narrowMatch OMIM:613925 semapv:UnspecifiedMatching +GARD:3445 Megalencephalic leukoencephalopathy with subcortical cysts skos:narrowMatch OMIM:613926 semapv:UnspecifiedMatching +GARD:3448 Megalocornea-intellectual disability syndrome skos:exactMatch Orphanet:2479 semapv:UnspecifiedMatching +GARD:3448 Megalocornea-intellectual disability syndrome skos:narrowMatch OMIM:249310 semapv:UnspecifiedMatching +GARD:3449 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch Orphanet:3038 semapv:UnspecifiedMatching +GARD:3449 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:narrowMatch OMIM:182875 semapv:UnspecifiedMatching +GARD:345 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:exactMatch Orphanet:3055 semapv:UnspecifiedMatching +GARD:3451 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement skos:exactMatch Orphanet:2196 semapv:UnspecifiedMatching +GARD:3451 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement skos:narrowMatch OMIM:248190 semapv:UnspecifiedMatching +GARD:346 Hoyeraal-Hreidarsson syndrome skos:exactMatch Orphanet:3322 semapv:UnspecifiedMatching +GARD:346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:305000 semapv:UnspecifiedMatching +GARD:346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:613989 semapv:UnspecifiedMatching +GARD:346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:613990 semapv:UnspecifiedMatching +GARD:346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:615190 semapv:UnspecifiedMatching +GARD:346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:616353 semapv:UnspecifiedMatching +GARD:346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:616553 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:exactMatch Orphanet:618 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:155600 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:155601 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:155700 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:608035 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:609048 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:613099 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:613972 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:615134 semapv:UnspecifiedMatching +GARD:3460 Familial melanoma skos:narrowMatch OMIM:615848 semapv:UnspecifiedMatching +GARD:3462 Melhem-Fahl syndrome skos:exactMatch Orphanet:2482 semapv:UnspecifiedMatching +GARD:347 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch Orphanet:2255 semapv:UnspecifiedMatching +GARD:347 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:narrowMatch OMIM:600001 semapv:UnspecifiedMatching +GARD:3475 Myelomeningocele skos:exactMatch Orphanet:93969 semapv:UnspecifiedMatching +GARD:348 Yolk sac tumor skos:exactMatch Orphanet:876 semapv:UnspecifiedMatching +GARD:348 Yolk sac tumor skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +GARD:3480 Cerebrooculonasal syndrome skos:exactMatch Orphanet:66625 semapv:UnspecifiedMatching +GARD:3480 Cerebrooculonasal syndrome skos:narrowMatch OMIM:605627 semapv:UnspecifiedMatching +GARD:3482 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:exactMatch Orphanet:1236 semapv:UnspecifiedMatching +GARD:3485 Intellectual disability, Buenos-Aires type skos:exactMatch Orphanet:3079 semapv:UnspecifiedMatching +GARD:3485 Intellectual disability, Buenos-Aires type skos:narrowMatch OMIM:249630 semapv:UnspecifiedMatching +GARD:3491 Hernández-Aguirre Negrete syndrome skos:exactMatch Orphanet:2139 semapv:UnspecifiedMatching +GARD:35 Tetrasomy 18p skos:exactMatch Orphanet:3307 semapv:UnspecifiedMatching +GARD:35 Tetrasomy 18p skos:narrowMatch OMIM:614290 semapv:UnspecifiedMatching +GARD:350 Skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch Orphanet:1858 semapv:UnspecifiedMatching +GARD:350 Skeletal dysplasia-epilepsy-short stature syndrome skos:narrowMatch OMIM:601187 semapv:UnspecifiedMatching +GARD:3505 Severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch Orphanet:404473 semapv:UnspecifiedMatching +GARD:3505 Severe intellectual disability-progressive spastic diplegia syndrome skos:narrowMatch OMIM:615075 semapv:UnspecifiedMatching +GARD:3506 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch Orphanet:3077 semapv:UnspecifiedMatching +GARD:3506 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:narrowMatch OMIM:300055 semapv:UnspecifiedMatching +GARD:351 Dacryocystitis-osteopoikilosis syndrome skos:exactMatch Orphanet:1562 semapv:UnspecifiedMatching +GARD:351 Dacryocystitis-osteopoikilosis syndrome skos:narrowMatch OMIM:166705 semapv:UnspecifiedMatching +GARD:3514 Intellectual disability-short stature-hypertelorism syndrome skos:exactMatch Orphanet:3074 semapv:UnspecifiedMatching +GARD:3519 Metaphyseal acroscyphodysplasia skos:exactMatch Orphanet:1240 semapv:UnspecifiedMatching +GARD:3519 Metaphyseal acroscyphodysplasia skos:narrowMatch OMIM:250215 semapv:UnspecifiedMatching +GARD:3520 X-linked skeletal dysplasia-intellectual disability syndrome skos:exactMatch Orphanet:1436 semapv:UnspecifiedMatching +GARD:3520 X-linked skeletal dysplasia-intellectual disability syndrome skos:narrowMatch OMIM:309620 semapv:UnspecifiedMatching +GARD:3521 Intellectual disability-hypotonic facies syndrome, x-linked, 1 skos:broadMatch Orphanet:847 semapv:UnspecifiedMatching +GARD:3521 Intellectual disability-hypotonic facies syndrome, x-linked, 1 skos:exactMatch OMIM:309580 semapv:UnspecifiedMatching +GARD:3523 Intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch Orphanet:1891 semapv:UnspecifiedMatching +GARD:3523 Intellectual disability-spasticity-ectrodactyly syndrome skos:narrowMatch OMIM:246555 semapv:UnspecifiedMatching +GARD:3524 Mietens syndrome skos:exactMatch Orphanet:2557 semapv:UnspecifiedMatching +GARD:3524 Mietens syndrome skos:narrowMatch OMIM:249600 semapv:UnspecifiedMatching +GARD:3530 Intellectual disability, Wolff type skos:exactMatch Orphanet:3080 semapv:UnspecifiedMatching +GARD:3530 Intellectual disability, Wolff type skos:narrowMatch OMIM:277990 semapv:UnspecifiedMatching +GARD:3531 Monoamine oxidase A deficiency skos:exactMatch Orphanet:3057 semapv:UnspecifiedMatching +GARD:3531 Monoamine oxidase A deficiency skos:narrowMatch OMIM:300615 semapv:UnspecifiedMatching +GARD:3537 Atkin-Flaitz syndrome skos:exactMatch Orphanet:1193 semapv:UnspecifiedMatching +GARD:3537 Atkin-Flaitz syndrome skos:narrowMatch OMIM:300431 semapv:UnspecifiedMatching +GARD:354 Osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch Orphanet:2324 semapv:UnspecifiedMatching +GARD:354 Osteopenia-intellectual disability-sparse hair syndrome skos:narrowMatch OMIM:259690 semapv:UnspecifiedMatching +GARD:3552 Mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch Orphanet:2631 semapv:UnspecifiedMatching +GARD:3552 Mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:narrowMatch OMIM:249710 semapv:UnspecifiedMatching +GARD:3553 Langer mesomelic dysplasia skos:exactMatch Orphanet:2632 semapv:UnspecifiedMatching +GARD:3553 Langer mesomelic dysplasia skos:narrowMatch OMIM:249700 semapv:UnspecifiedMatching +GARD:3554 Mesomelic dysplasia, Nievergelt type skos:exactMatch Orphanet:2633 semapv:UnspecifiedMatching +GARD:3554 Mesomelic dysplasia, Nievergelt type skos:narrowMatch OMIM:163400 semapv:UnspecifiedMatching +GARD:3555 Mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch Orphanet:2634 semapv:UnspecifiedMatching +GARD:3555 Mesomelic dwarfism, Reinhardt-Pfeiffer type skos:narrowMatch OMIM:191400 semapv:UnspecifiedMatching +GARD:3559 Syndactyly type 8 skos:exactMatch Orphanet:2498 semapv:UnspecifiedMatching +GARD:3559 Syndactyly type 8 skos:narrowMatch OMIM:309630 semapv:UnspecifiedMatching +GARD:3560 Metachondromatosis skos:exactMatch Orphanet:2499 semapv:UnspecifiedMatching +GARD:3560 Metachondromatosis skos:narrowMatch OMIM:156250 semapv:UnspecifiedMatching +GARD:3562 Metaphyseal anadysplasia skos:exactMatch Orphanet:1040 semapv:UnspecifiedMatching +GARD:3562 Metaphyseal anadysplasia skos:narrowMatch OMIM:602111 semapv:UnspecifiedMatching +GARD:3562 Metaphyseal anadysplasia skos:narrowMatch OMIM:613073 semapv:UnspecifiedMatching +GARD:3563 Metaphyseal chondrodysplasia, Spahr type skos:exactMatch Orphanet:2501 semapv:UnspecifiedMatching +GARD:3563 Metaphyseal chondrodysplasia, Spahr type skos:narrowMatch OMIM:250400 semapv:UnspecifiedMatching +GARD:3566 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch Orphanet:2502 semapv:UnspecifiedMatching +GARD:3566 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:narrowMatch OMIM:250420 semapv:UnspecifiedMatching +GARD:3568 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch Orphanet:2504 semapv:UnspecifiedMatching +GARD:3568 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:narrowMatch OMIM:156510 semapv:UnspecifiedMatching +GARD:3571 Metatropic dysplasia skos:exactMatch Orphanet:2635 semapv:UnspecifiedMatching +GARD:3571 Metatropic dysplasia skos:narrowMatch OMIM:156530 semapv:UnspecifiedMatching +GARD:3573 Methimazole embryofetopathy skos:exactMatch Orphanet:1923 semapv:UnspecifiedMatching +GARD:3575 Fetal methylmercury syndrome skos:exactMatch Orphanet:1917 semapv:UnspecifiedMatching +GARD:3576 Methylcobalamin deficiency type cblE skos:exactMatch Orphanet:2169 semapv:UnspecifiedMatching +GARD:3576 Methylcobalamin deficiency type cblE skos:narrowMatch OMIM:236270 semapv:UnspecifiedMatching +GARD:3577 Methylcobalamin deficiency type cblG skos:exactMatch Orphanet:2170 semapv:UnspecifiedMatching +GARD:3577 Methylcobalamin deficiency type cblG skos:narrowMatch OMIM:250940 semapv:UnspecifiedMatching +GARD:3579 Methylmalonic acidemia with homocystinuria skos:exactMatch Orphanet:26 semapv:UnspecifiedMatching +GARD:3579 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277380 semapv:UnspecifiedMatching +GARD:3579 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277400 semapv:UnspecifiedMatching +GARD:3579 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +GARD:3579 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:614857 semapv:UnspecifiedMatching +GARD:358 W syndrome skos:exactMatch Orphanet:2804 semapv:UnspecifiedMatching +GARD:358 W syndrome skos:narrowMatch OMIM:311450 semapv:UnspecifiedMatching +GARD:3582 Methylmalonic acidemia with homocystinuria, type cblD skos:exactMatch Orphanet:79283 semapv:UnspecifiedMatching +GARD:3582 Methylmalonic acidemia with homocystinuria, type cblD skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +GARD:3584 Methylmalonic acidemia with homocystinuria type cblF skos:exactMatch Orphanet:79284 semapv:UnspecifiedMatching +GARD:3584 Methylmalonic acidemia with homocystinuria type cblF skos:narrowMatch OMIM:277380 semapv:UnspecifiedMatching +GARD:3586 Vitamin B12-unresponsive methylmalonic acidemia skos:exactMatch Orphanet:27 semapv:UnspecifiedMatching +GARD:3586 Vitamin B12-unresponsive methylmalonic acidemia skos:narrowMatch OMIM:251000 semapv:UnspecifiedMatching +GARD:3588 Mevalonic aciduria skos:exactMatch Orphanet:29 semapv:UnspecifiedMatching +GARD:3588 Mevalonic aciduria skos:narrowMatch OMIM:610377 semapv:UnspecifiedMatching +GARD:3589 Multiple benign circumferential skin creases on limbs skos:exactMatch Orphanet:2505 semapv:UnspecifiedMatching +GARD:3589 Multiple benign circumferential skin creases on limbs skos:narrowMatch OMIM:156610 semapv:UnspecifiedMatching +GARD:3589 Multiple benign circumferential skin creases on limbs skos:narrowMatch OMIM:616734 semapv:UnspecifiedMatching +GARD:359 Cranioectodermal dysplasia skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching +GARD:359 Cranioectodermal dysplasia skos:narrowMatch OMIM:218330 semapv:UnspecifiedMatching +GARD:359 Cranioectodermal dysplasia skos:narrowMatch OMIM:613610 semapv:UnspecifiedMatching +GARD:359 Cranioectodermal dysplasia skos:narrowMatch OMIM:614099 semapv:UnspecifiedMatching +GARD:359 Cranioectodermal dysplasia skos:narrowMatch OMIM:614378 semapv:UnspecifiedMatching +GARD:359 Cranioectodermal dysplasia skos:narrowMatch OMIM:617102 semapv:UnspecifiedMatching +GARD:3596 Microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch Orphanet:2511 semapv:UnspecifiedMatching +GARD:3596 Microbrachycephaly-ptosis-cleft lip syndrome skos:narrowMatch OMIM:268850 semapv:UnspecifiedMatching +GARD:360 Abruzzo-Erickson syndrome skos:exactMatch Orphanet:921 semapv:UnspecifiedMatching +GARD:360 Abruzzo-Erickson syndrome skos:narrowMatch OMIM:302905 semapv:UnspecifiedMatching +GARD:3602 Microcephalic primordial dwarfism, Toriello type skos:exactMatch Orphanet:2643 semapv:UnspecifiedMatching +GARD:3602 Microcephalic primordial dwarfism, Toriello type skos:narrowMatch OMIM:251190 semapv:UnspecifiedMatching +GARD:3603 Isolated congenital microcephaly skos:exactMatch Orphanet:199642 semapv:UnspecifiedMatching +GARD:3604 Microcephaly-albinism-digital anomalies syndrome skos:exactMatch Orphanet:2513 semapv:UnspecifiedMatching +GARD:3604 Microcephaly-albinism-digital anomalies syndrome skos:narrowMatch OMIM:203340 semapv:UnspecifiedMatching +GARD:3605 Autosomal dominant primary microcephaly skos:exactMatch Orphanet:2514 semapv:UnspecifiedMatching +GARD:3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:156580 semapv:UnspecifiedMatching +GARD:3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:616311 semapv:UnspecifiedMatching +GARD:3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:617520 semapv:UnspecifiedMatching +GARD:3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:619179 semapv:UnspecifiedMatching +GARD:3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:619180 semapv:UnspecifiedMatching +GARD:3607 Microcephaly-brain defect-spasticity-hypernatremia syndrome skos:exactMatch Orphanet:2523 semapv:UnspecifiedMatching +GARD:3609 Microcephaly-cardiomyopathy syndrome skos:exactMatch Orphanet:2515 semapv:UnspecifiedMatching +GARD:3609 Microcephaly-cardiomyopathy syndrome skos:narrowMatch OMIM:251220 semapv:UnspecifiedMatching +GARD:361 Acalvaria skos:exactMatch Orphanet:945 semapv:UnspecifiedMatching +GARD:3610 Microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch Orphanet:2522 semapv:UnspecifiedMatching +GARD:3610 Microcephaly-cervical spine fusion anomalies syndrome skos:narrowMatch OMIM:251250 semapv:UnspecifiedMatching +GARD:3615 Microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch Orphanet:2172 semapv:UnspecifiedMatching +GARD:3615 Microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:narrowMatch OMIM:248760 semapv:UnspecifiedMatching +GARD:3617 Mikati-Najjar-Sahli syndrome skos:exactMatch Orphanet:2558 semapv:UnspecifiedMatching +GARD:3622 Microcephaly-lymphedema-chorioretinopathy syndrome skos:exactMatch Orphanet:2526 semapv:UnspecifiedMatching +GARD:3622 Microcephaly-lymphedema-chorioretinopathy syndrome skos:narrowMatch OMIM:152950 semapv:UnspecifiedMatching +GARD:3627 Microcephaly-microcornea syndrome, Seemanova type skos:exactMatch Orphanet:2528 semapv:UnspecifiedMatching +GARD:363 Acatalasemia skos:exactMatch Orphanet:926 semapv:UnspecifiedMatching +GARD:363 Acatalasemia skos:narrowMatch OMIM:614097 semapv:UnspecifiedMatching +GARD:3635 Congenital microcoria skos:exactMatch Orphanet:566 semapv:UnspecifiedMatching +GARD:3635 Congenital microcoria skos:narrowMatch OMIM:156600 semapv:UnspecifiedMatching +GARD:3637 Microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch Orphanet:2536 semapv:UnspecifiedMatching +GARD:3637 Microcornea-glaucoma-absent frontal sinuses syndrome skos:narrowMatch OMIM:156700 semapv:UnspecifiedMatching +GARD:364 Isolated arrhinia skos:exactMatch Orphanet:1134 semapv:UnspecifiedMatching +GARD:3640 Microgastria-limb reduction defect syndrome skos:exactMatch Orphanet:2538 semapv:UnspecifiedMatching +GARD:3640 Microgastria-limb reduction defect syndrome skos:narrowMatch OMIM:156810 semapv:UnspecifiedMatching +GARD:3643 Autosomal dominant omodysplasia skos:exactMatch Orphanet:93328 semapv:UnspecifiedMatching +GARD:3643 Autosomal dominant omodysplasia skos:narrowMatch OMIM:164745 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:exactMatch Orphanet:98938 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:251505 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:300345 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:601186 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:605738 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:610092 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:611638 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:613703 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:614497 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:615145 semapv:UnspecifiedMatching +GARD:3644 Colobomatous microphthalmia skos:narrowMatch OMIM:616428 semapv:UnspecifiedMatching +GARD:3645 Microphthalmia with brain and digit anomalies skos:exactMatch Orphanet:139471 semapv:UnspecifiedMatching +GARD:3645 Microphthalmia with brain and digit anomalies skos:narrowMatch OMIM:607932 semapv:UnspecifiedMatching +GARD:365 Aromatase deficiency skos:exactMatch Orphanet:91 semapv:UnspecifiedMatching +GARD:365 Aromatase deficiency skos:narrowMatch OMIM:613546 semapv:UnspecifiedMatching +GARD:3650 Microphthalmia-microtia-fetal akinesia syndrome skos:exactMatch Orphanet:2547 semapv:UnspecifiedMatching +GARD:3652 Microscopic polyangiitis skos:exactMatch Orphanet:727 semapv:UnspecifiedMatching +GARD:3653 Oculoauriculovertebral spectrum with radial defects skos:exactMatch Orphanet:2549 semapv:UnspecifiedMatching +GARD:3653 Oculoauriculovertebral spectrum with radial defects skos:narrowMatch OMIM:141400 semapv:UnspecifiedMatching +GARD:3655 Microsporidiosis skos:exactMatch Orphanet:2552 semapv:UnspecifiedMatching +GARD:3659 Microphthalmia with linear skin defects syndrome skos:exactMatch Orphanet:2556 semapv:UnspecifiedMatching +GARD:3659 Microphthalmia with linear skin defects syndrome skos:narrowMatch OMIM:300887 semapv:UnspecifiedMatching +GARD:3659 Microphthalmia with linear skin defects syndrome skos:narrowMatch OMIM:300952 semapv:UnspecifiedMatching +GARD:3659 Microphthalmia with linear skin defects syndrome skos:narrowMatch OMIM:309801 semapv:UnspecifiedMatching +GARD:3668 Miller Fisher syndrome skos:exactMatch Orphanet:98919 semapv:UnspecifiedMatching +GARD:3669 Miller-Dieker syndrome skos:exactMatch Orphanet:531 semapv:UnspecifiedMatching +GARD:3669 Miller-Dieker syndrome skos:narrowMatch OMIM:247200 semapv:UnspecifiedMatching +GARD:3671 Mitochondrial DNA-associated Leigh syndrome skos:exactMatch Orphanet:255210 semapv:UnspecifiedMatching +GARD:3671 Mitochondrial DNA-associated Leigh syndrome skos:narrowMatch OMIM:256000 semapv:UnspecifiedMatching +GARD:3672 Non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch Orphanet:90031 semapv:UnspecifiedMatching +GARD:3672 Non-spherocytic hemolytic anemia due to hexokinase deficiency skos:narrowMatch OMIM:235700 semapv:UnspecifiedMatching +GARD:368 Laryngo-onycho-cutaneous syndrome skos:exactMatch Orphanet:2407 semapv:UnspecifiedMatching +GARD:368 Laryngo-onycho-cutaneous syndrome skos:narrowMatch OMIM:245660 semapv:UnspecifiedMatching +GARD:3681 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch Orphanet:1933 semapv:UnspecifiedMatching +GARD:3681 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:narrowMatch OMIM:612073 semapv:UnspecifiedMatching +GARD:3682 Mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch Orphanet:2597 semapv:UnspecifiedMatching +GARD:3682 Mitochondrial myopathy-lactic acidosis-deafness syndrome skos:narrowMatch OMIM:251950 semapv:UnspecifiedMatching +GARD:3684 Mitochondrial trifunctional protein deficiency skos:exactMatch Orphanet:746 semapv:UnspecifiedMatching +GARD:3684 Mitochondrial trifunctional protein deficiency skos:narrowMatch OMIM:609015 semapv:UnspecifiedMatching +GARD:3685 Mitral atresia skos:exactMatch Orphanet:1205 semapv:UnspecifiedMatching +GARD:3687 Familial mitral valve prolapse skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching +GARD:3687 Familial mitral valve prolapse skos:narrowMatch OMIM:157700 semapv:UnspecifiedMatching +GARD:3687 Familial mitral valve prolapse skos:narrowMatch OMIM:607829 semapv:UnspecifiedMatching +GARD:3687 Familial mitral valve prolapse skos:narrowMatch OMIM:610840 semapv:UnspecifiedMatching +GARD:3688 Mitral valve prolapse 1 skos:broadMatch Orphanet:741 semapv:UnspecifiedMatching +GARD:3688 Mitral valve prolapse 1 skos:exactMatch OMIM:157700 semapv:UnspecifiedMatching +GARD:369 Xq21 microdeletion syndrome skos:exactMatch Orphanet:1435 semapv:UnspecifiedMatching +GARD:369 Xq21 microdeletion syndrome skos:narrowMatch OMIM:303110 semapv:UnspecifiedMatching +GARD:3690 Melorheostosis with osteopoikilosis skos:exactMatch Orphanet:1879 semapv:UnspecifiedMatching +GARD:3692 Syndromic microphthalmia type 5 skos:exactMatch Orphanet:178364 semapv:UnspecifiedMatching +GARD:3692 Syndromic microphthalmia type 5 skos:narrowMatch OMIM:610125 semapv:UnspecifiedMatching +GARD:3693 MMEP syndrome skos:exactMatch Orphanet:3434 semapv:UnspecifiedMatching +GARD:3693 MMEP syndrome skos:narrowMatch OMIM:601349 semapv:UnspecifiedMatching +GARD:3697 MODY skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:125850 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:125851 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:600496 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:606391 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:606392 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:606394 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:609812 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:610508 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:612225 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:613370 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:613375 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:616329 semapv:UnspecifiedMatching +GARD:3697 MODY skos:narrowMatch OMIM:616511 semapv:UnspecifiedMatching +GARD:3698 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2560 semapv:UnspecifiedMatching +GARD:3699 Fryns syndrome skos:exactMatch Orphanet:2059 semapv:UnspecifiedMatching +GARD:3699 Fryns syndrome skos:narrowMatch OMIM:229850 semapv:UnspecifiedMatching +GARD:37 Partial deletion of the short arm of chromosome 3 skos:exactMatch Orphanet:261875 semapv:UnspecifiedMatching +GARD:370 Cholestasis-lymphedema syndrome skos:exactMatch Orphanet:1414 semapv:UnspecifiedMatching +GARD:370 Cholestasis-lymphedema syndrome skos:narrowMatch OMIM:214900 semapv:UnspecifiedMatching +GARD:3701 Orofaciodigital syndrome type 2 skos:exactMatch Orphanet:2751 semapv:UnspecifiedMatching +GARD:3701 Orofaciodigital syndrome type 2 skos:narrowMatch OMIM:252100 semapv:UnspecifiedMatching +GARD:3704 Choroidal atrophy-alopecia syndrome skos:exactMatch Orphanet:1433 semapv:UnspecifiedMatching +GARD:3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch Orphanet:99732 semapv:UnspecifiedMatching +GARD:3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:narrowMatch OMIM:252150 semapv:UnspecifiedMatching +GARD:3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:narrowMatch OMIM:252160 semapv:UnspecifiedMatching +GARD:3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:narrowMatch OMIM:615501 semapv:UnspecifiedMatching +GARD:3707 Tetramelic monodactyly skos:exactMatch Orphanet:2564 semapv:UnspecifiedMatching +GARD:3707 Tetramelic monodactyly skos:narrowMatch OMIM:187510 semapv:UnspecifiedMatching +GARD:371 Qazi-Markouizos syndrome skos:exactMatch Orphanet:3010 semapv:UnspecifiedMatching +GARD:371 Qazi-Markouizos syndrome skos:narrowMatch OMIM:600096 semapv:UnspecifiedMatching +GARD:3711 Distal monosomy 10q skos:exactMatch Orphanet:96148 semapv:UnspecifiedMatching +GARD:3711 Distal monosomy 10q skos:narrowMatch OMIM:609625 semapv:UnspecifiedMatching +GARD:372 Neurofibromatosis-Noonan syndrome skos:exactMatch Orphanet:638 semapv:UnspecifiedMatching +GARD:372 Neurofibromatosis-Noonan syndrome skos:narrowMatch OMIM:601321 semapv:UnspecifiedMatching +GARD:373 Quinquaud folliculitis decalvans skos:exactMatch Orphanet:346 semapv:UnspecifiedMatching +GARD:3738 1q41q42 microdeletion syndrome skos:exactMatch Orphanet:250999 semapv:UnspecifiedMatching +GARD:3738 1q41q42 microdeletion syndrome skos:narrowMatch OMIM:612530 semapv:UnspecifiedMatching +GARD:374 Pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch Orphanet:2835 semapv:UnspecifiedMatching +GARD:374 Pectus excavatum-macrocephaly-dysplastic nails syndrome skos:narrowMatch OMIM:600399 semapv:UnspecifiedMatching +GARD:3746 2q24 microdeletion syndrome skos:exactMatch Orphanet:1617 semapv:UnspecifiedMatching +GARD:375 Cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 semapv:UnspecifiedMatching +GARD:375 Cleft lip/palate-ectodermal dysplasia syndrome skos:narrowMatch OMIM:225060 semapv:UnspecifiedMatching +GARD:3750 Distal monosomy 3p skos:exactMatch Orphanet:1620 semapv:UnspecifiedMatching +GARD:3750 Distal monosomy 3p skos:narrowMatch OMIM:613792 semapv:UnspecifiedMatching +GARD:376 Acheiropodia skos:exactMatch Orphanet:931 semapv:UnspecifiedMatching +GARD:376 Acheiropodia skos:narrowMatch OMIM:200500 semapv:UnspecifiedMatching +GARD:3764 6q25 microdeletion syndrome skos:exactMatch Orphanet:251056 semapv:UnspecifiedMatching +GARD:3764 6q25 microdeletion syndrome skos:narrowMatch OMIM:612863 semapv:UnspecifiedMatching +GARD:3765 Familial monosomy 7 syndrome skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching +GARD:3765 Familial monosomy 7 syndrome skos:narrowMatch OMIM:252270 semapv:UnspecifiedMatching +GARD:3765 Familial monosomy 7 syndrome skos:narrowMatch OMIM:619041 semapv:UnspecifiedMatching +GARD:3769 8p23.1 microdeletion syndrome skos:exactMatch Orphanet:251071 semapv:UnspecifiedMatching +GARD:377 Congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:exactMatch Orphanet:973 semapv:UnspecifiedMatching +GARD:377 Congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:narrowMatch OMIM:102650 semapv:UnspecifiedMatching +GARD:3773 Monosomy 9p skos:exactMatch Orphanet:261112 semapv:UnspecifiedMatching +GARD:3773 Monosomy 9p skos:narrowMatch OMIM:158170 semapv:UnspecifiedMatching +GARD:378 Johnson neuroectodermal syndrome skos:exactMatch Orphanet:2316 semapv:UnspecifiedMatching +GARD:378 Johnson neuroectodermal syndrome skos:narrowMatch OMIM:147770 semapv:UnspecifiedMatching +GARD:3785 Mucopolysaccharidosis type 4A skos:exactMatch Orphanet:309297 semapv:UnspecifiedMatching +GARD:3785 Mucopolysaccharidosis type 4A skos:narrowMatch OMIM:253000 semapv:UnspecifiedMatching +GARD:3786 Mucopolysaccharidosis type 4B skos:exactMatch Orphanet:309310 semapv:UnspecifiedMatching +GARD:3786 Mucopolysaccharidosis type 4B skos:narrowMatch OMIM:253010 semapv:UnspecifiedMatching +GARD:3787 VIPoma skos:exactMatch Orphanet:97282 semapv:UnspecifiedMatching +GARD:3788 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome skos:exactMatch Orphanet:2570 semapv:UnspecifiedMatching +GARD:3788 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome skos:narrowMatch OMIM:306990 semapv:UnspecifiedMatching +GARD:379 Renal tubular dysgenesis skos:exactMatch Orphanet:3033 semapv:UnspecifiedMatching +GARD:379 Renal tubular dysgenesis skos:narrowMatch OMIM:267430 semapv:UnspecifiedMatching +GARD:3791 Peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch Orphanet:2400 semapv:UnspecifiedMatching +GARD:3791 Peripheral motor neuropathy-dysautonomia syndrome skos:narrowMatch OMIM:252320 semapv:UnspecifiedMatching +GARD:3793 Mounier-Kühn syndrome skos:exactMatch Orphanet:3347 semapv:UnspecifiedMatching +GARD:3793 Mounier-Kühn syndrome skos:narrowMatch OMIM:275300 semapv:UnspecifiedMatching +GARD:3795 Spastic ataxia-corneal dystrophy syndrome skos:exactMatch Orphanet:2572 semapv:UnspecifiedMatching +GARD:3795 Spastic ataxia-corneal dystrophy syndrome skos:narrowMatch OMIM:271320 semapv:UnspecifiedMatching +GARD:380 Knobloch syndrome skos:exactMatch Orphanet:1571 semapv:UnspecifiedMatching +GARD:380 Knobloch syndrome skos:narrowMatch OMIM:267750 semapv:UnspecifiedMatching +GARD:3806 Mucolipidosis type III skos:exactMatch Orphanet:577 semapv:UnspecifiedMatching +GARD:3806 Mucolipidosis type III skos:narrowMatch OMIM:252600 semapv:UnspecifiedMatching +GARD:3806 Mucolipidosis type III skos:narrowMatch OMIM:252605 semapv:UnspecifiedMatching +GARD:3807 Mucopolysaccharidosis type 3 skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +GARD:3807 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252900 semapv:UnspecifiedMatching +GARD:3807 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252920 semapv:UnspecifiedMatching +GARD:3807 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252930 semapv:UnspecifiedMatching +GARD:3807 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252940 semapv:UnspecifiedMatching +GARD:381 Arachnodactyly-abnormal ossification-intellectual disability syndrome skos:exactMatch Orphanet:1129 semapv:UnspecifiedMatching +GARD:3818 Multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch Orphanet:2774 semapv:UnspecifiedMatching +GARD:3818 Multicentric carpo-tarsal osteolysis with or without nephropathy skos:narrowMatch OMIM:166300 semapv:UnspecifiedMatching +GARD:3824 Multiple carboxylase deficiency skos:exactMatch Orphanet:148 semapv:UnspecifiedMatching +GARD:3829 Multiple endocrine neoplasia type 1 skos:exactMatch Orphanet:652 semapv:UnspecifiedMatching +GARD:3829 Multiple endocrine neoplasia type 1 skos:narrowMatch OMIM:131100 semapv:UnspecifiedMatching +GARD:383 Albers-Schönberg osteopetrosis skos:exactMatch Orphanet:53 semapv:UnspecifiedMatching +GARD:383 Albers-Schönberg osteopetrosis skos:narrowMatch OMIM:166600 semapv:UnspecifiedMatching +GARD:3830 Multiple endocrine neoplasia type 2 skos:exactMatch Orphanet:653 semapv:UnspecifiedMatching +GARD:3830 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:155240 semapv:UnspecifiedMatching +GARD:3830 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:162300 semapv:UnspecifiedMatching +GARD:3830 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:171400 semapv:UnspecifiedMatching +GARD:3834 Lethal multiple pterygium syndrome skos:exactMatch Orphanet:33108 semapv:UnspecifiedMatching +GARD:3834 Lethal multiple pterygium syndrome skos:narrowMatch OMIM:253290 semapv:UnspecifiedMatching +GARD:3836 Multiple synostoses syndrome skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching +GARD:3836 Multiple synostoses syndrome skos:narrowMatch OMIM:186500 semapv:UnspecifiedMatching +GARD:3836 Multiple synostoses syndrome skos:narrowMatch OMIM:610017 semapv:UnspecifiedMatching +GARD:3836 Multiple synostoses syndrome skos:narrowMatch OMIM:612961 semapv:UnspecifiedMatching +GARD:384 ADULT syndrome skos:exactMatch Orphanet:978 semapv:UnspecifiedMatching +GARD:384 ADULT syndrome skos:narrowMatch OMIM:103285 semapv:UnspecifiedMatching +GARD:3843 Laminin subunit alpha 2-related congenital muscular dystrophy skos:exactMatch Orphanet:258 semapv:UnspecifiedMatching +GARD:3843 Laminin subunit alpha 2-related congenital muscular dystrophy skos:narrowMatch OMIM:607855 semapv:UnspecifiedMatching +GARD:3843 Laminin subunit alpha 2-related congenital muscular dystrophy skos:narrowMatch OMIM:618138 semapv:UnspecifiedMatching +GARD:3844 TRIM32-related limb-girdle muscular dystrophy R8 skos:exactMatch Orphanet:1878 semapv:UnspecifiedMatching +GARD:3844 TRIM32-related limb-girdle muscular dystrophy R8 skos:narrowMatch OMIM:254110 semapv:UnspecifiedMatching +GARD:385 Zimmermann-Laband syndrome skos:exactMatch Orphanet:3473 semapv:UnspecifiedMatching +GARD:385 Zimmermann-Laband syndrome skos:narrowMatch OMIM:135500 semapv:UnspecifiedMatching +GARD:385 Zimmermann-Laband syndrome skos:narrowMatch OMIM:616455 semapv:UnspecifiedMatching +GARD:385 Zimmermann-Laband syndrome skos:narrowMatch OMIM:618658 semapv:UnspecifiedMatching +GARD:3851 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 skos:exactMatch Orphanet:119 semapv:UnspecifiedMatching +GARD:3851 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 skos:narrowMatch OMIM:604286 semapv:UnspecifiedMatching +GARD:3856 Becker nevus syndrome skos:exactMatch Orphanet:64755 semapv:UnspecifiedMatching +GARD:3856 Becker nevus syndrome skos:narrowMatch OMIM:604919 semapv:UnspecifiedMatching +GARD:3858 Glycogen storage disease due to muscle phosphorylase kinase deficiency skos:exactMatch Orphanet:715 semapv:UnspecifiedMatching +GARD:3858 Glycogen storage disease due to muscle phosphorylase kinase deficiency skos:narrowMatch OMIM:300559 semapv:UnspecifiedMatching +GARD:386 Tetraamelia-multiple malformations syndrome skos:exactMatch Orphanet:3301 semapv:UnspecifiedMatching +GARD:386 Tetraamelia-multiple malformations syndrome skos:narrowMatch OMIM:273395 semapv:UnspecifiedMatching +GARD:386 Tetraamelia-multiple malformations syndrome skos:narrowMatch OMIM:618021 semapv:UnspecifiedMatching +GARD:3862 Mycetoma skos:exactMatch Orphanet:2583 semapv:UnspecifiedMatching +GARD:3863 Classic mycosis fungoides skos:exactMatch Orphanet:2584 semapv:UnspecifiedMatching +GARD:3863 Classic mycosis fungoides skos:narrowMatch OMIM:254400 semapv:UnspecifiedMatching +GARD:3865 Ataxia-pancytopenia syndrome skos:exactMatch Orphanet:2585 semapv:UnspecifiedMatching +GARD:3865 Ataxia-pancytopenia syndrome skos:narrowMatch OMIM:159550 semapv:UnspecifiedMatching +GARD:3868 Myeloperoxidase deficiency skos:exactMatch Orphanet:2587 semapv:UnspecifiedMatching +GARD:3868 Myeloperoxidase deficiency skos:narrowMatch OMIM:254600 semapv:UnspecifiedMatching +GARD:387 Combined immunodeficiency due to ZAP70 deficiency skos:exactMatch Orphanet:911 semapv:UnspecifiedMatching +GARD:387 Combined immunodeficiency due to ZAP70 deficiency skos:narrowMatch OMIM:269840 semapv:UnspecifiedMatching +GARD:3872 Progressive myoclonic epilepsy type 6 skos:exactMatch Orphanet:280620 semapv:UnspecifiedMatching +GARD:3872 Progressive myoclonic epilepsy type 6 skos:narrowMatch OMIM:614018 semapv:UnspecifiedMatching +GARD:3873 Myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch Orphanet:2589 semapv:UnspecifiedMatching +GARD:3873 Myoclonus-cerebellar ataxia-deafness syndrome skos:narrowMatch OMIM:159800 semapv:UnspecifiedMatching +GARD:3875 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch Orphanet:2590 semapv:UnspecifiedMatching +GARD:3875 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:narrowMatch OMIM:159950 semapv:UnspecifiedMatching +GARD:3876 Progressive myoclonic epilepsy type 1 skos:exactMatch Orphanet:308 semapv:UnspecifiedMatching +GARD:3876 Progressive myoclonic epilepsy type 1 skos:narrowMatch OMIM:254800 semapv:UnspecifiedMatching +GARD:3876 Progressive myoclonic epilepsy type 1 skos:narrowMatch OMIM:310370 semapv:UnspecifiedMatching +GARD:3876 Progressive myoclonic epilepsy type 1 skos:narrowMatch OMIM:612437 semapv:UnspecifiedMatching +GARD:3879 Myoglobinuria, recurrent skos:broadMatch Orphanet:99845 semapv:UnspecifiedMatching +GARD:3879 Myoglobinuria, recurrent skos:exactMatch OMIM:550500 semapv:UnspecifiedMatching +GARD:3881 Myopathy and diabetes mellitus skos:exactMatch Orphanet:2596 semapv:UnspecifiedMatching +GARD:3881 Myopathy and diabetes mellitus skos:narrowMatch OMIM:500002 semapv:UnspecifiedMatching +GARD:3884 Tubular aggregate myopathy skos:exactMatch Orphanet:2593 semapv:UnspecifiedMatching +GARD:3884 Tubular aggregate myopathy skos:narrowMatch OMIM:160565 semapv:UnspecifiedMatching +GARD:3884 Tubular aggregate myopathy skos:narrowMatch OMIM:615883 semapv:UnspecifiedMatching +GARD:3885 Mitochondrial myopathy and sideroblastic anemia skos:exactMatch Orphanet:2598 semapv:UnspecifiedMatching +GARD:3885 Mitochondrial myopathy and sideroblastic anemia skos:narrowMatch OMIM:500011 semapv:UnspecifiedMatching +GARD:3885 Mitochondrial myopathy and sideroblastic anemia skos:narrowMatch OMIM:600462 semapv:UnspecifiedMatching +GARD:3885 Mitochondrial myopathy and sideroblastic anemia skos:narrowMatch OMIM:613561 semapv:UnspecifiedMatching +GARD:3889 Carey-Fineman-Ziter syndrome skos:exactMatch Orphanet:1358 semapv:UnspecifiedMatching +GARD:3889 Carey-Fineman-Ziter syndrome skos:narrowMatch OMIM:254940 semapv:UnspecifiedMatching +GARD:3892 X-linked myopathy with excessive autophagy skos:exactMatch Orphanet:25980 semapv:UnspecifiedMatching +GARD:3892 X-linked myopathy with excessive autophagy skos:narrowMatch OMIM:310440 semapv:UnspecifiedMatching +GARD:3896 Inclusion body myositis skos:exactMatch Orphanet:611 semapv:UnspecifiedMatching +GARD:3896 Inclusion body myositis skos:narrowMatch OMIM:147421 semapv:UnspecifiedMatching +GARD:39 WT limb-blood syndrome skos:exactMatch Orphanet:3466 semapv:UnspecifiedMatching +GARD:39 WT limb-blood syndrome skos:narrowMatch OMIM:194350 semapv:UnspecifiedMatching +GARD:390 Endosteal hyperostosis, Worth type skos:exactMatch Orphanet:2790 semapv:UnspecifiedMatching +GARD:390 Endosteal hyperostosis, Worth type skos:narrowMatch OMIM:144750 semapv:UnspecifiedMatching +GARD:3902 N syndrome skos:exactMatch Orphanet:2608 semapv:UnspecifiedMatching +GARD:3902 N syndrome skos:narrowMatch OMIM:310465 semapv:UnspecifiedMatching +GARD:3903 Alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch Orphanet:79281 semapv:UnspecifiedMatching +GARD:3903 Alpha-N-acetylgalactosaminidase deficiency type 3 skos:narrowMatch OMIM:609241 semapv:UnspecifiedMatching +GARD:3904 Nijmegen breakage syndrome skos:exactMatch Orphanet:647 semapv:UnspecifiedMatching +GARD:3904 Nijmegen breakage syndrome skos:narrowMatch OMIM:251260 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:252010 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:301020 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:301021 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618222 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618224 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618225 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618226 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618228 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618229 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618230 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618232 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618233 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618234 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618236 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618237 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618238 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618240 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618241 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618242 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618245 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618246 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618250 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618251 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618253 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:618776 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:619003 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:619170 semapv:UnspecifiedMatching +GARD:3908 Isolated complex I deficiency skos:narrowMatch OMIM:619272 semapv:UnspecifiedMatching +GARD:3909 Methemoglobin reductase deficiency skos:broadMatch Orphanet:621 semapv:UnspecifiedMatching +GARD:3909 Methemoglobin reductase deficiency skos:exactMatch OMIM:250700 semapv:UnspecifiedMatching +GARD:391 Osteomesopyknosis skos:exactMatch Orphanet:2777 semapv:UnspecifiedMatching +GARD:391 Osteomesopyknosis skos:narrowMatch OMIM:166450 semapv:UnspecifiedMatching +GARD:3912 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch Orphanet:69087 semapv:UnspecifiedMatching +GARD:3912 Naegeli-Franceschetti-Jadassohn syndrome skos:narrowMatch OMIM:161000 semapv:UnspecifiedMatching +GARD:3916 Proteasome-associated autoinflammatory syndrome 1 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +GARD:3916 Proteasome-associated autoinflammatory syndrome 1 skos:exactMatch OMIM:256040 semapv:UnspecifiedMatching +GARD:3919 Isolated growth hormone deficiency type IB skos:exactMatch Orphanet:231671 semapv:UnspecifiedMatching +GARD:3919 Isolated growth hormone deficiency type IB skos:narrowMatch OMIM:612781 semapv:UnspecifiedMatching +GARD:3919 Isolated growth hormone deficiency type IB skos:narrowMatch OMIM:618157 semapv:UnspecifiedMatching +GARD:3921 Isolated growth hormone deficiency type III skos:exactMatch Orphanet:231692 semapv:UnspecifiedMatching +GARD:3921 Isolated growth hormone deficiency type III skos:narrowMatch OMIM:300123 semapv:UnspecifiedMatching +GARD:3921 Isolated growth hormone deficiency type III skos:narrowMatch OMIM:307200 semapv:UnspecifiedMatching +GARD:3924 Growth hormone insensitivity syndrome skos:exactMatch Orphanet:181393 semapv:UnspecifiedMatching +GARD:3927 Nasopalpebral lipoma-coloboma syndrome skos:exactMatch Orphanet:2399 semapv:UnspecifiedMatching +GARD:3927 Nasopalpebral lipoma-coloboma syndrome skos:narrowMatch OMIM:167730 semapv:UnspecifiedMatching +GARD:3928 Neuronal intestinal pseudoobstruction skos:exactMatch Orphanet:99811 semapv:UnspecifiedMatching +GARD:3928 Neuronal intestinal pseudoobstruction skos:narrowMatch OMIM:243185 semapv:UnspecifiedMatching +GARD:3929 Nathalie syndrome skos:exactMatch Orphanet:2663 semapv:UnspecifiedMatching +GARD:3929 Nathalie syndrome skos:narrowMatch OMIM:255990 semapv:UnspecifiedMatching +GARD:393 Tungiasis skos:exactMatch Orphanet:879 semapv:UnspecifiedMatching +GARD:3931 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85408 semapv:UnspecifiedMatching +GARD:3936 Perlman syndrome skos:exactMatch Orphanet:2849 semapv:UnspecifiedMatching +GARD:3936 Perlman syndrome skos:narrowMatch OMIM:267000 semapv:UnspecifiedMatching +GARD:394 Radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch Orphanet:3268 semapv:UnspecifiedMatching +GARD:394 Radioulnar synostosis-microcephaly-scoliosis syndrome skos:narrowMatch OMIM:603438 semapv:UnspecifiedMatching +GARD:3940 Nephropathy-deafness-hyperparathyroidism syndrome skos:exactMatch Orphanet:2668 semapv:UnspecifiedMatching +GARD:3940 Nephropathy-deafness-hyperparathyroidism syndrome skos:narrowMatch OMIM:256120 semapv:UnspecifiedMatching +GARD:3943 Nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch Orphanet:2669 semapv:UnspecifiedMatching +GARD:3943 Nephrosis-deafness-urinary tract-digital malformations syndrome skos:narrowMatch OMIM:256200 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:256370 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:301028 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:600995 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:603278 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:603965 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:607832 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:610725 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:612551 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:613237 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:614131 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:614196 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:615244 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:615573 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:615861 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616002 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616032 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616220 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616730 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616892 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616893 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618176 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618177 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618178 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618179 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:619155 semapv:UnspecifiedMatching +GARD:3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:619201 semapv:UnspecifiedMatching +GARD:3947 Congenital isolated hyperinsulinism skos:exactMatch Orphanet:657 semapv:UnspecifiedMatching +GARD:3948 Tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch Orphanet:3350 semapv:UnspecifiedMatching +GARD:3948 Tremor-nystagmus-duodenal ulcer syndrome skos:narrowMatch OMIM:190310 semapv:UnspecifiedMatching +GARD:3949 Neuhauser-Eichner-Opitz syndrome skos:exactMatch Orphanet:2672 semapv:UnspecifiedMatching +GARD:3949 Neuhauser-Eichner-Opitz syndrome skos:narrowMatch OMIM:130950 semapv:UnspecifiedMatching +GARD:395 Retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch Orphanet:1574 semapv:UnspecifiedMatching +GARD:395 Retinal degeneration-nanophthalmos-glaucoma syndrome skos:narrowMatch OMIM:267760 semapv:UnspecifiedMatching +GARD:3953 Galactosialidosis skos:exactMatch Orphanet:351 semapv:UnspecifiedMatching +GARD:3953 Galactosialidosis skos:narrowMatch OMIM:256540 semapv:UnspecifiedMatching +GARD:3955 Amyotrophy, hereditary neuralgic skos:broadMatch Orphanet:2901 semapv:UnspecifiedMatching +GARD:3955 Amyotrophy, hereditary neuralgic skos:exactMatch OMIM:162100 semapv:UnspecifiedMatching +GARD:3956 Choreoacanthocytosis skos:exactMatch Orphanet:2388 semapv:UnspecifiedMatching +GARD:3956 Choreoacanthocytosis skos:narrowMatch OMIM:200150 semapv:UnspecifiedMatching +GARD:3957 Infantile neuroaxonal dystrophy skos:exactMatch Orphanet:35069 semapv:UnspecifiedMatching +GARD:3957 Infantile neuroaxonal dystrophy skos:narrowMatch OMIM:256600 semapv:UnspecifiedMatching +GARD:3957 Infantile neuroaxonal dystrophy skos:narrowMatch OMIM:610217 semapv:UnspecifiedMatching +GARD:396 Tularemia skos:exactMatch Orphanet:3392 semapv:UnspecifiedMatching +GARD:3964 Neurofaciodigitorenal syndrome skos:exactMatch Orphanet:2673 semapv:UnspecifiedMatching +GARD:3964 Neurofaciodigitorenal syndrome skos:narrowMatch OMIM:256690 semapv:UnspecifiedMatching +GARD:3967 Neurofibromatosis type 6 skos:exactMatch Orphanet:2678 semapv:UnspecifiedMatching +GARD:3967 Neurofibromatosis type 6 skos:narrowMatch OMIM:114030 semapv:UnspecifiedMatching +GARD:3971 Neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 semapv:UnspecifiedMatching +GARD:3971 Neuronal intranuclear inclusion disease skos:narrowMatch OMIM:603472 semapv:UnspecifiedMatching +GARD:3972 Navajo neurohepatopathy skos:exactMatch Orphanet:255229 semapv:UnspecifiedMatching +GARD:3972 Navajo neurohepatopathy skos:narrowMatch OMIM:256810 semapv:UnspecifiedMatching +GARD:3973 Charcot-Marie-Tooth disease type 4D skos:exactMatch Orphanet:99950 semapv:UnspecifiedMatching +GARD:3973 Charcot-Marie-Tooth disease type 4D skos:narrowMatch OMIM:601455 semapv:UnspecifiedMatching +GARD:3976 Hereditary sensory and autonomic neuropathy type 2 skos:exactMatch Orphanet:970 semapv:UnspecifiedMatching +GARD:3976 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:201300 semapv:UnspecifiedMatching +GARD:3976 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:243000 semapv:UnspecifiedMatching +GARD:3976 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:613115 semapv:UnspecifiedMatching +GARD:3976 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:614213 semapv:UnspecifiedMatching +GARD:3979 Neutral lipid storage disease with ichthyosis skos:exactMatch Orphanet:98907 semapv:UnspecifiedMatching +GARD:3979 Neutral lipid storage disease with ichthyosis skos:narrowMatch OMIM:275630 semapv:UnspecifiedMatching +GARD:3981 X-linked severe congenital neutropenia skos:exactMatch Orphanet:86788 semapv:UnspecifiedMatching +GARD:3981 X-linked severe congenital neutropenia skos:narrowMatch OMIM:300299 semapv:UnspecifiedMatching +GARD:3982 Neutropenia-monocytopenia-deafness syndrome skos:exactMatch Orphanet:2690 semapv:UnspecifiedMatching +GARD:3986 Familial multiple nevi flammei skos:exactMatch Orphanet:624 semapv:UnspecifiedMatching +GARD:3986 Familial multiple nevi flammei skos:narrowMatch OMIM:163000 semapv:UnspecifiedMatching +GARD:399 46,XX testicular disorder of sex development skos:exactMatch Orphanet:393 semapv:UnspecifiedMatching +GARD:399 46,XX testicular disorder of sex development skos:narrowMatch OMIM:278850 semapv:UnspecifiedMatching +GARD:399 46,XX testicular disorder of sex development skos:narrowMatch OMIM:300833 semapv:UnspecifiedMatching +GARD:399 46,XX testicular disorder of sex development skos:narrowMatch OMIM:400045 semapv:UnspecifiedMatching +GARD:3994 Night blindness-skeletal anomalies-dysmorphism syndrome skos:exactMatch Orphanet:1390 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:163500 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:257270 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:300071 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:310500 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:610427 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:610444 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:610445 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:613216 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:613830 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:614565 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:615058 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:616389 semapv:UnspecifiedMatching +GARD:3995 Congenital stationary night blindness skos:narrowMatch OMIM:617024 semapv:UnspecifiedMatching +GARD:3999 Ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch Orphanet:1884 semapv:UnspecifiedMatching +GARD:400 GAPO syndrome skos:exactMatch Orphanet:2067 semapv:UnspecifiedMatching +GARD:400 GAPO syndrome skos:narrowMatch OMIM:230740 semapv:UnspecifiedMatching +GARD:4001 Noma skos:exactMatch Orphanet:2700 semapv:UnspecifiedMatching +GARD:4003 Maternally-inherited diabetes and deafness skos:exactMatch Orphanet:225 semapv:UnspecifiedMatching +GARD:4003 Maternally-inherited diabetes and deafness skos:narrowMatch OMIM:520000 semapv:UnspecifiedMatching +GARD:4010 Progressive epilepsy-intellectual disability syndrome, Finnish type skos:exactMatch Orphanet:1947 semapv:UnspecifiedMatching +GARD:4010 Progressive epilepsy-intellectual disability syndrome, Finnish type skos:narrowMatch OMIM:610003 semapv:UnspecifiedMatching +GARD:4011 Familial LCAT deficiency skos:exactMatch Orphanet:79293 semapv:UnspecifiedMatching +GARD:4011 Familial LCAT deficiency skos:narrowMatch OMIM:245900 semapv:UnspecifiedMatching +GARD:4014 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:exactMatch Orphanet:2703 semapv:UnspecifiedMatching +GARD:4017 Occipital horn syndrome skos:exactMatch Orphanet:198 semapv:UnspecifiedMatching +GARD:4017 Occipital horn syndrome skos:narrowMatch OMIM:304150 semapv:UnspecifiedMatching +GARD:4018 Primary tethered cord syndrome skos:exactMatch Orphanet:268861 semapv:UnspecifiedMatching +GARD:402 Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:broadMatch Orphanet:1215 semapv:UnspecifiedMatching +GARD:402 Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch OMIM:165199 semapv:UnspecifiedMatching +GARD:4031 Oculoauriculofrontonasal syndrome skos:exactMatch Orphanet:398156 semapv:UnspecifiedMatching +GARD:4031 Oculoauriculofrontonasal syndrome skos:narrowMatch OMIM:601452 semapv:UnspecifiedMatching +GARD:4034 Oculocerebral hypopigmentation syndrome, Preus type skos:exactMatch Orphanet:2720 semapv:UnspecifiedMatching +GARD:4034 Oculocerebral hypopigmentation syndrome, Preus type skos:narrowMatch OMIM:257790 semapv:UnspecifiedMatching +GARD:4037 Oculocutaneous albinism type 1 skos:exactMatch Orphanet:352731 semapv:UnspecifiedMatching +GARD:4037 Oculocutaneous albinism type 1 skos:narrowMatch OMIM:203100 semapv:UnspecifiedMatching +GARD:4037 Oculocutaneous albinism type 1 skos:narrowMatch OMIM:606952 semapv:UnspecifiedMatching +GARD:4038 Oculocutaneous albinism type 2 skos:exactMatch Orphanet:79432 semapv:UnspecifiedMatching +GARD:4038 Oculocutaneous albinism type 2 skos:narrowMatch OMIM:203200 semapv:UnspecifiedMatching +GARD:4039 Oculocutaneous albinism type 3 skos:exactMatch Orphanet:79433 semapv:UnspecifiedMatching +GARD:4039 Oculocutaneous albinism type 3 skos:narrowMatch OMIM:203290 semapv:UnspecifiedMatching +GARD:404 Osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch Orphanet:2786 semapv:UnspecifiedMatching +GARD:404 Osteoporosis-oculocutaneous hypopigmentation syndrome skos:narrowMatch OMIM:601220 semapv:UnspecifiedMatching +GARD:4046 Oculomaxillofacial dysostosis skos:exactMatch Orphanet:1794 semapv:UnspecifiedMatching +GARD:4047 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch Orphanet:1154 semapv:UnspecifiedMatching +GARD:4047 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome skos:narrowMatch OMIM:108145 semapv:UnspecifiedMatching +GARD:4049 3mc syndrome 1 skos:broadMatch Orphanet:293843 semapv:UnspecifiedMatching +GARD:4049 3mc syndrome 1 skos:exactMatch OMIM:257920 semapv:UnspecifiedMatching +GARD:405 Subaortic stenosis-short stature syndrome skos:exactMatch Orphanet:3191 semapv:UnspecifiedMatching +GARD:405 Subaortic stenosis-short stature syndrome skos:narrowMatch OMIM:271960 semapv:UnspecifiedMatching +GARD:4050 Severe oculo-renal-cerebellar syndrome skos:exactMatch Orphanet:2715 semapv:UnspecifiedMatching +GARD:4050 Severe oculo-renal-cerebellar syndrome skos:narrowMatch OMIM:257970 semapv:UnspecifiedMatching +GARD:4051 Odonto-onycho dysplasia-alopecia syndrome skos:exactMatch Orphanet:2722 semapv:UnspecifiedMatching +GARD:4053 Odontomicronychial dysplasia skos:exactMatch Orphanet:1811 semapv:UnspecifiedMatching +GARD:4053 Odontomicronychial dysplasia skos:narrowMatch OMIM:601319 semapv:UnspecifiedMatching +GARD:4054 Odonto-onycho-dermal dysplasia skos:exactMatch Orphanet:2721 semapv:UnspecifiedMatching +GARD:4054 Odonto-onycho-dermal dysplasia skos:narrowMatch OMIM:257980 semapv:UnspecifiedMatching +GARD:406 Foveal hypoplasia-presenile cataract syndrome skos:exactMatch Orphanet:2253 semapv:UnspecifiedMatching +GARD:406 Foveal hypoplasia-presenile cataract syndrome skos:narrowMatch OMIM:136520 semapv:UnspecifiedMatching +GARD:4060 Orofaciodigital syndrome type 8 skos:exactMatch Orphanet:2755 semapv:UnspecifiedMatching +GARD:4060 Orofaciodigital syndrome type 8 skos:narrowMatch OMIM:300484 semapv:UnspecifiedMatching +GARD:4061 Orofaciodigital syndrome type 10 skos:exactMatch Orphanet:2756 semapv:UnspecifiedMatching +GARD:4061 Orofaciodigital syndrome type 10 skos:narrowMatch OMIM:165590 semapv:UnspecifiedMatching +GARD:4062 Infantile-onset spinocerebellar ataxia skos:exactMatch Orphanet:1186 semapv:UnspecifiedMatching +GARD:4062 Infantile-onset spinocerebellar ataxia skos:narrowMatch OMIM:271245 semapv:UnspecifiedMatching +GARD:4064 Okamoto syndrome skos:exactMatch Orphanet:2729 semapv:UnspecifiedMatching +GARD:4064 Okamoto syndrome skos:narrowMatch OMIM:604916 semapv:UnspecifiedMatching +GARD:4065 Postaxial tetramelic oligodactyly skos:exactMatch Orphanet:2730 semapv:UnspecifiedMatching +GARD:4065 Postaxial tetramelic oligodactyly skos:narrowMatch OMIM:176240 semapv:UnspecifiedMatching +GARD:4066 Oligomeganephronia skos:exactMatch Orphanet:2260 semapv:UnspecifiedMatching +GARD:4069 Oliver syndrome skos:exactMatch Orphanet:2920 semapv:UnspecifiedMatching +GARD:4069 Oliver syndrome skos:narrowMatch OMIM:258200 semapv:UnspecifiedMatching +GARD:407 Ermine phenotype skos:exactMatch Orphanet:999 semapv:UnspecifiedMatching +GARD:407 Ermine phenotype skos:narrowMatch OMIM:227010 semapv:UnspecifiedMatching +GARD:4070 Olivopontocerebellar atrophy-deafness syndrome skos:exactMatch Orphanet:2732 semapv:UnspecifiedMatching +GARD:4071 Spinocerebellar ataxia type 1 skos:exactMatch Orphanet:98755 semapv:UnspecifiedMatching +GARD:4071 Spinocerebellar ataxia type 1 skos:narrowMatch OMIM:164400 semapv:UnspecifiedMatching +GARD:4072 Spinocerebellar ataxia type 2 skos:exactMatch Orphanet:98756 semapv:UnspecifiedMatching +GARD:4072 Spinocerebellar ataxia type 2 skos:narrowMatch OMIM:183090 semapv:UnspecifiedMatching +GARD:4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:exactMatch Orphanet:659 semapv:UnspecifiedMatching +GARD:4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:300918 semapv:UnspecifiedMatching +GARD:4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:614594 semapv:UnspecifiedMatching +GARD:4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:619208 semapv:UnspecifiedMatching +GARD:4076 Autosomal recessive omodysplasia skos:exactMatch Orphanet:93329 semapv:UnspecifiedMatching +GARD:4076 Autosomal recessive omodysplasia skos:narrowMatch OMIM:258315 semapv:UnspecifiedMatching +GARD:4079 Lethal omphalocele-cleft palate syndrome skos:exactMatch Orphanet:2736 semapv:UnspecifiedMatching +GARD:4079 Lethal omphalocele-cleft palate syndrome skos:narrowMatch OMIM:258320 semapv:UnspecifiedMatching +GARD:408 Short stature due to growth hormone qualitative anomaly skos:exactMatch Orphanet:629 semapv:UnspecifiedMatching +GARD:408 Short stature due to growth hormone qualitative anomaly skos:narrowMatch OMIM:262650 semapv:UnspecifiedMatching +GARD:4080 Cloacal exstrophy skos:exactMatch Orphanet:93929 semapv:UnspecifiedMatching +GARD:4080 Cloacal exstrophy skos:narrowMatch OMIM:258040 semapv:UnspecifiedMatching +GARD:4081 Omphalomesenteric cyst skos:exactMatch Orphanet:490 semapv:UnspecifiedMatching +GARD:4083 Cooks syndrome skos:exactMatch Orphanet:1487 semapv:UnspecifiedMatching +GARD:4083 Cooks syndrome skos:narrowMatch OMIM:106995 semapv:UnspecifiedMatching +GARD:4085 Poikiloderma with neutropenia skos:exactMatch Orphanet:221046 semapv:UnspecifiedMatching +GARD:4085 Poikiloderma with neutropenia skos:narrowMatch OMIM:604173 semapv:UnspecifiedMatching +GARD:409 Pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2798 semapv:UnspecifiedMatching +GARD:409 Pachygyria-intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:600176 semapv:UnspecifiedMatching +GARD:4098 Opsismodysplasia skos:exactMatch Orphanet:2746 semapv:UnspecifiedMatching +GARD:4098 Opsismodysplasia skos:narrowMatch OMIM:258480 semapv:UnspecifiedMatching +GARD:4106 Renal coloboma syndrome skos:exactMatch Orphanet:1475 semapv:UnspecifiedMatching +GARD:4106 Renal coloboma syndrome skos:narrowMatch OMIM:120330 semapv:UnspecifiedMatching +GARD:4107 Optic pathway glioma skos:exactMatch Orphanet:2086 semapv:UnspecifiedMatching +GARD:411 Sanjad-Sakati syndrome skos:exactMatch Orphanet:2323 semapv:UnspecifiedMatching +GARD:411 Sanjad-Sakati syndrome skos:narrowMatch OMIM:241410 semapv:UnspecifiedMatching +GARD:4116 Oromandibular-limb hypogenesis syndrome skos:exactMatch Orphanet:2749 semapv:UnspecifiedMatching +GARD:4118 Orofaciodigital syndrome type 11 skos:exactMatch Orphanet:141000 semapv:UnspecifiedMatching +GARD:4118 Orofaciodigital syndrome type 11 skos:narrowMatch OMIM:612913 semapv:UnspecifiedMatching +GARD:4119 X-linked intellectual disability, Shashi type skos:exactMatch Orphanet:85286 semapv:UnspecifiedMatching +GARD:4119 X-linked intellectual disability, Shashi type skos:narrowMatch OMIM:300238 semapv:UnspecifiedMatching +GARD:412 Cheilitis glandularis skos:exactMatch Orphanet:1221 semapv:UnspecifiedMatching +GARD:412 Cheilitis glandularis skos:narrowMatch OMIM:118330 semapv:UnspecifiedMatching +GARD:4120 Orofaciodigital syndrome type 5 skos:exactMatch Orphanet:2919 semapv:UnspecifiedMatching +GARD:4120 Orofaciodigital syndrome type 5 skos:narrowMatch OMIM:174300 semapv:UnspecifiedMatching +GARD:4121 Orofaciodigital syndrome type 1 skos:exactMatch Orphanet:2750 semapv:UnspecifiedMatching +GARD:4121 Orofaciodigital syndrome type 1 skos:narrowMatch OMIM:311200 semapv:UnspecifiedMatching +GARD:4129 OSLAM syndrome skos:exactMatch Orphanet:2760 semapv:UnspecifiedMatching +GARD:4129 OSLAM syndrome skos:narrowMatch OMIM:165660 semapv:UnspecifiedMatching +GARD:413 Geroderma osteodysplastica skos:exactMatch Orphanet:2078 semapv:UnspecifiedMatching +GARD:413 Geroderma osteodysplastica skos:narrowMatch OMIM:231070 semapv:UnspecifiedMatching +GARD:4130 Otospondylomegaepiphyseal dysplasia skos:exactMatch Orphanet:1427 semapv:UnspecifiedMatching +GARD:4130 Otospondylomegaepiphyseal dysplasia skos:narrowMatch OMIM:215150 semapv:UnspecifiedMatching +GARD:4131 Thiemann disease, familial form skos:exactMatch Orphanet:3314 semapv:UnspecifiedMatching +GARD:4131 Thiemann disease, familial form skos:narrowMatch OMIM:165700 semapv:UnspecifiedMatching +GARD:4133 Familial osteochondritis dissecans skos:exactMatch Orphanet:251262 semapv:UnspecifiedMatching +GARD:4133 Familial osteochondritis dissecans skos:narrowMatch OMIM:165800 semapv:UnspecifiedMatching +GARD:4136 Familial osteodysplasia, Anderson type skos:exactMatch Orphanet:2769 semapv:UnspecifiedMatching +GARD:4136 Familial osteodysplasia, Anderson type skos:narrowMatch OMIM:259250 semapv:UnspecifiedMatching +GARD:4139 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch Orphanet:2772 semapv:UnspecifiedMatching +GARD:4139 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:narrowMatch OMIM:259410 semapv:UnspecifiedMatching +GARD:414 Bamforth-Lazarus syndrome skos:exactMatch Orphanet:1226 semapv:UnspecifiedMatching +GARD:414 Bamforth-Lazarus syndrome skos:narrowMatch OMIM:241850 semapv:UnspecifiedMatching +GARD:4142 Osteoglosphonic dysplasia skos:exactMatch Orphanet:2645 semapv:UnspecifiedMatching +GARD:4142 Osteoglosphonic dysplasia skos:narrowMatch OMIM:166250 semapv:UnspecifiedMatching +GARD:4148 Osteopathia striata-cranial sclerosis syndrome skos:exactMatch Orphanet:2780 semapv:UnspecifiedMatching +GARD:4148 Osteopathia striata-cranial sclerosis syndrome skos:narrowMatch OMIM:300373 semapv:UnspecifiedMatching +GARD:415 Pseudoprogeria syndrome skos:exactMatch Orphanet:2985 semapv:UnspecifiedMatching +GARD:415 Pseudoprogeria syndrome skos:narrowMatch OMIM:200130 semapv:UnspecifiedMatching +GARD:4151 Autosomal dominant osteopetrosis type 1 skos:exactMatch Orphanet:2783 semapv:UnspecifiedMatching +GARD:4151 Autosomal dominant osteopetrosis type 1 skos:narrowMatch OMIM:607634 semapv:UnspecifiedMatching +GARD:4153 Osteopetrosis, autosomal recessive 5 skos:broadMatch Orphanet:85179 semapv:UnspecifiedMatching +GARD:4153 Osteopetrosis, autosomal recessive 5 skos:exactMatch OMIM:259720 semapv:UnspecifiedMatching +GARD:4154 Osteopetrosis with renal tubular acidosis skos:exactMatch Orphanet:2785 semapv:UnspecifiedMatching +GARD:4154 Osteopetrosis with renal tubular acidosis skos:narrowMatch OMIM:259730 semapv:UnspecifiedMatching +GARD:4154 Osteopetrosis with renal tubular acidosis skos:narrowMatch OMIM:267200 semapv:UnspecifiedMatching +GARD:4155 Osteopetrosis and related disorders skos:exactMatch Orphanet:2781 semapv:UnspecifiedMatching +GARD:4156 Intermediate osteopetrosis skos:exactMatch Orphanet:210110 semapv:UnspecifiedMatching +GARD:4156 Intermediate osteopetrosis skos:narrowMatch OMIM:611497 semapv:UnspecifiedMatching +GARD:4157 Osteopetrosis, autosomal recessive 2 skos:broadMatch Orphanet:667 semapv:UnspecifiedMatching +GARD:4157 Osteopetrosis, autosomal recessive 2 skos:exactMatch OMIM:259710 semapv:UnspecifiedMatching +GARD:4160 Osteoporosis-pseudoglioma syndrome skos:exactMatch Orphanet:2788 semapv:UnspecifiedMatching +GARD:4160 Osteoporosis-pseudoglioma syndrome skos:narrowMatch OMIM:259770 semapv:UnspecifiedMatching +GARD:4163 Foix-Alajouanine syndrome skos:exactMatch Orphanet:79093 semapv:UnspecifiedMatching +GARD:4166 Heart defect-tongue hamartoma-polysyndactyly syndrome skos:exactMatch Orphanet:1338 semapv:UnspecifiedMatching +GARD:4166 Heart defect-tongue hamartoma-polysyndactyly syndrome skos:narrowMatch OMIM:217085 semapv:UnspecifiedMatching +GARD:4168 Otodental syndrome skos:exactMatch Orphanet:2791 semapv:UnspecifiedMatching +GARD:4168 Otodental syndrome skos:narrowMatch OMIM:166750 semapv:UnspecifiedMatching +GARD:4169 Otofaciocervical syndrome skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching +GARD:4169 Otofaciocervical syndrome skos:narrowMatch OMIM:166780 semapv:UnspecifiedMatching +GARD:4169 Otofaciocervical syndrome skos:narrowMatch OMIM:615560 semapv:UnspecifiedMatching +GARD:4170 Otoonychoperoneal syndrome skos:exactMatch Orphanet:2793 semapv:UnspecifiedMatching +GARD:4170 Otoonychoperoneal syndrome skos:narrowMatch OMIM:259780 semapv:UnspecifiedMatching +GARD:4176 Benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch Orphanet:1179 semapv:UnspecifiedMatching +GARD:4176 Benign paroxysmal tonic upgaze of childhood with ataxia skos:narrowMatch OMIM:168885 semapv:UnspecifiedMatching +GARD:418 Pentosuria skos:exactMatch Orphanet:2843 semapv:UnspecifiedMatching +GARD:418 Pentosuria skos:narrowMatch OMIM:260800 semapv:UnspecifiedMatching +GARD:4183 Overhydrated hereditary stomatocytosis skos:exactMatch Orphanet:3203 semapv:UnspecifiedMatching +GARD:4183 Overhydrated hereditary stomatocytosis skos:narrowMatch OMIM:185000 semapv:UnspecifiedMatching +GARD:4189 Epiphyseal stippling-osteoclastic hyperplasia syndrome skos:exactMatch Orphanet:1952 semapv:UnspecifiedMatching +GARD:4189 Epiphyseal stippling-osteoclastic hyperplasia syndrome skos:narrowMatch OMIM:167220 semapv:UnspecifiedMatching +GARD:4192 Extramammary Paget disease skos:exactMatch Orphanet:2800 semapv:UnspecifiedMatching +GARD:4192 Extramammary Paget disease skos:narrowMatch OMIM:167300 semapv:UnspecifiedMatching +GARD:4199 Hydrocephaly-low insertion umbilicus syndrome skos:exactMatch Orphanet:2184 semapv:UnspecifiedMatching +GARD:42 Tetrasomy 9p skos:exactMatch Orphanet:3310 semapv:UnspecifiedMatching +GARD:420 Mismatch repair cancer syndrome 1 skos:broadMatch Orphanet:252202 semapv:UnspecifiedMatching +GARD:420 Mismatch repair cancer syndrome 1 skos:exactMatch OMIM:276300 semapv:UnspecifiedMatching +GARD:4203 Partial pancreatic agenesis skos:exactMatch Orphanet:2805 semapv:UnspecifiedMatching +GARD:4203 Partial pancreatic agenesis skos:narrowMatch OMIM:167755 semapv:UnspecifiedMatching +GARD:4203 Partial pancreatic agenesis skos:narrowMatch OMIM:260370 semapv:UnspecifiedMatching +GARD:4203 Partial pancreatic agenesis skos:narrowMatch OMIM:615935 semapv:UnspecifiedMatching +GARD:4204 Adenoma of pancreas skos:exactMatch Orphanet:93292 semapv:UnspecifiedMatching +GARD:4206 Familial pancreatic carcinoma skos:exactMatch Orphanet:1333 semapv:UnspecifiedMatching +GARD:4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:260350 semapv:UnspecifiedMatching +GARD:4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:606856 semapv:UnspecifiedMatching +GARD:4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:613347 semapv:UnspecifiedMatching +GARD:4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:613348 semapv:UnspecifiedMatching +GARD:4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:614320 semapv:UnspecifiedMatching +GARD:4210 Pancreatoblastoma skos:exactMatch Orphanet:677 semapv:UnspecifiedMatching +GARD:4213 Polyostotic fibrous dysplasia skos:exactMatch Orphanet:93276 semapv:UnspecifiedMatching +GARD:4214 Papilloma of choroid plexus skos:exactMatch Orphanet:2807 semapv:UnspecifiedMatching +GARD:4214 Papilloma of choroid plexus skos:narrowMatch OMIM:260500 semapv:UnspecifiedMatching +GARD:4219 Autosomal dominant spastic paraplegia type 17 skos:exactMatch Orphanet:100998 semapv:UnspecifiedMatching +GARD:4219 Autosomal dominant spastic paraplegia type 17 skos:narrowMatch OMIM:270685 semapv:UnspecifiedMatching +GARD:4222 Parastremmatic dwarfism skos:exactMatch Orphanet:2646 semapv:UnspecifiedMatching +GARD:4222 Parastremmatic dwarfism skos:narrowMatch OMIM:168400 semapv:UnspecifiedMatching +GARD:4223 PARC syndrome skos:exactMatch Orphanet:2825 semapv:UnspecifiedMatching +GARD:4223 PARC syndrome skos:narrowMatch OMIM:600331 semapv:UnspecifiedMatching +GARD:4224 Paris-Trousseau thrombocytopenia skos:exactMatch Orphanet:851 semapv:UnspecifiedMatching +GARD:4224 Paris-Trousseau thrombocytopenia skos:narrowMatch OMIM:188025 semapv:UnspecifiedMatching +GARD:4224 Paris-Trousseau thrombocytopenia skos:narrowMatch OMIM:617443 semapv:UnspecifiedMatching +GARD:4227 Idiopathic ventricular fibrillation, non Brugada type skos:exactMatch Orphanet:228140 semapv:UnspecifiedMatching +GARD:4227 Idiopathic ventricular fibrillation, non Brugada type skos:narrowMatch OMIM:603829 semapv:UnspecifiedMatching +GARD:4227 Idiopathic ventricular fibrillation, non Brugada type skos:narrowMatch OMIM:612956 semapv:UnspecifiedMatching +GARD:4228 Neuralgic amyotrophy skos:exactMatch Orphanet:2901 semapv:UnspecifiedMatching +GARD:4228 Neuralgic amyotrophy skos:narrowMatch OMIM:162100 semapv:UnspecifiedMatching +GARD:4229 Partial atrioventricular septal defect skos:exactMatch Orphanet:1330 semapv:UnspecifiedMatching +GARD:4235 Partington syndrome skos:exactMatch Orphanet:94083 semapv:UnspecifiedMatching +GARD:4235 Partington syndrome skos:narrowMatch OMIM:309510 semapv:UnspecifiedMatching +GARD:4236 Fetal parvovirus syndrome skos:exactMatch Orphanet:295 semapv:UnspecifiedMatching +GARD:4238 Blepharonasofacial malformation syndrome skos:exactMatch Orphanet:1252 semapv:UnspecifiedMatching +GARD:4238 Blepharonasofacial malformation syndrome skos:narrowMatch OMIM:110050 semapv:UnspecifiedMatching +GARD:424 XK aprosencephaly syndrome skos:exactMatch Orphanet:3469 semapv:UnspecifiedMatching +GARD:424 XK aprosencephaly syndrome skos:narrowMatch OMIM:207770 semapv:UnspecifiedMatching +GARD:425 Tufted angioma skos:exactMatch Orphanet:1063 semapv:UnspecifiedMatching +GARD:425 Tufted angioma skos:narrowMatch OMIM:607859 semapv:UnspecifiedMatching +GARD:4259 Pseudoleprechaunism syndrome, Patterson type skos:exactMatch Orphanet:2976 semapv:UnspecifiedMatching +GARD:4259 Pseudoleprechaunism syndrome, Patterson type skos:narrowMatch OMIM:169170 semapv:UnspecifiedMatching +GARD:4260 Patterson-Stevenson-Fontaine syndrome skos:exactMatch Orphanet:2439 semapv:UnspecifiedMatching +GARD:4260 Patterson-Stevenson-Fontaine syndrome skos:narrowMatch OMIM:183700 semapv:UnspecifiedMatching +GARD:4261 Oligoarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85410 semapv:UnspecifiedMatching +GARD:4264 PEHO syndrome skos:exactMatch Orphanet:2836 semapv:UnspecifiedMatching +GARD:4264 PEHO syndrome skos:narrowMatch OMIM:260565 semapv:UnspecifiedMatching +GARD:4265 Pelizaeus-Merzbacher disease skos:exactMatch Orphanet:702 semapv:UnspecifiedMatching +GARD:4265 Pelizaeus-Merzbacher disease skos:narrowMatch OMIM:213900 semapv:UnspecifiedMatching +GARD:4265 Pelizaeus-Merzbacher disease skos:narrowMatch OMIM:312080 semapv:UnspecifiedMatching +GARD:4266 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation skos:exactMatch Orphanet:280293 semapv:UnspecifiedMatching +GARD:4266 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation skos:narrowMatch OMIM:260600 semapv:UnspecifiedMatching +GARD:4269 Pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch Orphanet:2840 semapv:UnspecifiedMatching +GARD:4269 Pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:narrowMatch OMIM:602484 semapv:UnspecifiedMatching +GARD:427 Ptosis-vocal cord paralysis syndrome skos:exactMatch Orphanet:2997 semapv:UnspecifiedMatching +GARD:427 Ptosis-vocal cord paralysis syndrome skos:narrowMatch OMIM:193240 semapv:UnspecifiedMatching +GARD:4270 Pemphigus vulgaris, familial skos:broadMatch Orphanet:704 semapv:UnspecifiedMatching +GARD:4270 Pemphigus vulgaris, familial skos:exactMatch OMIM:169610 semapv:UnspecifiedMatching +GARD:4271 Pendred syndrome skos:exactMatch Orphanet:705 semapv:UnspecifiedMatching +GARD:4271 Pendred syndrome skos:narrowMatch OMIM:274600 semapv:UnspecifiedMatching +GARD:4272 Penile agenesis skos:exactMatch Orphanet:49 semapv:UnspecifiedMatching +GARD:4273 Penoscrotal transposition skos:exactMatch Orphanet:2842 semapv:UnspecifiedMatching +GARD:4276 Acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch Orphanet:363665 semapv:UnspecifiedMatching +GARD:4276 Acroosteolysis-keloid-like lesions-premature aging syndrome skos:narrowMatch OMIM:601812 semapv:UnspecifiedMatching +GARD:4278 Phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:broadMatch Orphanet:2880 semapv:UnspecifiedMatching +GARD:4278 Phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMatch OMIM:261680 semapv:UnspecifiedMatching +GARD:4279 Phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:broadMatch Orphanet:2880 semapv:UnspecifiedMatching +GARD:4279 Phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch OMIM:261650 semapv:UnspecifiedMatching +GARD:428 Craniofrontonasal dysplasia-Poland anomaly syndrome skos:exactMatch Orphanet:1521 semapv:UnspecifiedMatching +GARD:429 Constriction rings syndrome skos:exactMatch Orphanet:295000 semapv:UnspecifiedMatching +GARD:429 Constriction rings syndrome skos:narrowMatch OMIM:217100 semapv:UnspecifiedMatching +GARD:4291 Alopecia-intellectual disability syndrome 2 skos:broadMatch Orphanet:2850 semapv:UnspecifiedMatching +GARD:4291 Alopecia-intellectual disability syndrome 2 skos:exactMatch OMIM:610422 semapv:UnspecifiedMatching +GARD:4299 Autosomal recessive distal osteolysis syndrome skos:exactMatch Orphanet:2776 semapv:UnspecifiedMatching +GARD:4299 Autosomal recessive distal osteolysis syndrome skos:narrowMatch OMIM:259610 semapv:UnspecifiedMatching +GARD:43 Mosaic trisomy 9 skos:exactMatch Orphanet:99776 semapv:UnspecifiedMatching +GARD:4302 Mesomelia-synostoses syndrome skos:exactMatch Orphanet:2496 semapv:UnspecifiedMatching +GARD:4302 Mesomelia-synostoses syndrome skos:narrowMatch OMIM:600383 semapv:UnspecifiedMatching +GARD:4303 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:exactMatch Orphanet:3224 semapv:UnspecifiedMatching +GARD:4304 Preaxial polydactyly-colobomata-intellectual disability syndrome skos:exactMatch Orphanet:2921 semapv:UnspecifiedMatching +GARD:4305 Pfeiffer-Palm-Teller syndrome skos:exactMatch Orphanet:2871 semapv:UnspecifiedMatching +GARD:4305 Pfeiffer-Palm-Teller syndrome skos:narrowMatch OMIM:261560 semapv:UnspecifiedMatching +GARD:431 Microtia skos:exactMatch Orphanet:83463 semapv:UnspecifiedMatching +GARD:431 Microtia skos:narrowMatch OMIM:128800 semapv:UnspecifiedMatching +GARD:431 Microtia skos:narrowMatch OMIM:600674 semapv:UnspecifiedMatching +GARD:4311 Phakomatosis pigmentokeratotica skos:exactMatch Orphanet:2874 semapv:UnspecifiedMatching +GARD:4312 Phakomatosis pigmentovascularis skos:exactMatch Orphanet:2875 semapv:UnspecifiedMatching +GARD:4315 Phenobarbital embryopathy skos:exactMatch Orphanet:1919 semapv:UnspecifiedMatching +GARD:4319 Dihydropteridine reductase deficiency skos:exactMatch Orphanet:226 semapv:UnspecifiedMatching +GARD:4319 Dihydropteridine reductase deficiency skos:narrowMatch OMIM:261630 semapv:UnspecifiedMatching +GARD:4323 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch Orphanet:2878 semapv:UnspecifiedMatching +GARD:4323 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:narrowMatch OMIM:171480 semapv:UnspecifiedMatching +GARD:4329 PGM1-CDG skos:exactMatch Orphanet:319646 semapv:UnspecifiedMatching +GARD:4329 PGM1-CDG skos:narrowMatch OMIM:614921 semapv:UnspecifiedMatching +GARD:433 Apparent mineralocorticoid excess skos:exactMatch Orphanet:320 semapv:UnspecifiedMatching +GARD:433 Apparent mineralocorticoid excess skos:narrowMatch OMIM:218030 semapv:UnspecifiedMatching +GARD:4331 PGM3-CDG skos:exactMatch Orphanet:443811 semapv:UnspecifiedMatching +GARD:4331 PGM3-CDG skos:narrowMatch OMIM:615816 semapv:UnspecifiedMatching +GARD:4337 Phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:3222 semapv:UnspecifiedMatching +GARD:4337 Phosphoribosylpyrophosphate synthetase superactivity skos:narrowMatch OMIM:300661 semapv:UnspecifiedMatching +GARD:434 Hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 semapv:UnspecifiedMatching +GARD:434 Hydrocephalus with stenosis of the aqueduct of Sylvius skos:narrowMatch OMIM:307000 semapv:UnspecifiedMatching +GARD:4344 Piebaldism skos:exactMatch Orphanet:2884 semapv:UnspecifiedMatching +GARD:4344 Piebaldism skos:narrowMatch OMIM:172800 semapv:UnspecifiedMatching +GARD:4346 Autosomal dominant cerebellar ataxia skos:exactMatch Orphanet:99 semapv:UnspecifiedMatching +GARD:4347 Isolated Pierre Robin syndrome skos:exactMatch Orphanet:718 semapv:UnspecifiedMatching +GARD:4347 Isolated Pierre Robin syndrome skos:narrowMatch OMIM:261800 semapv:UnspecifiedMatching +GARD:435 Cleft lip-retinopathy syndrome skos:exactMatch Orphanet:1995 semapv:UnspecifiedMatching +GARD:4357 Late-onset retinal degeneration skos:exactMatch Orphanet:67042 semapv:UnspecifiedMatching +GARD:4357 Late-onset retinal degeneration skos:narrowMatch OMIM:605670 semapv:UnspecifiedMatching +GARD:4358 Severe combined immunodeficiency due to FOXN1 deficiency skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching +GARD:4358 Severe combined immunodeficiency due to FOXN1 deficiency skos:narrowMatch OMIM:601705 semapv:UnspecifiedMatching +GARD:4358 Severe combined immunodeficiency due to FOXN1 deficiency skos:narrowMatch OMIM:618806 semapv:UnspecifiedMatching +GARD:4359 Ringed hair disease skos:exactMatch Orphanet:169 semapv:UnspecifiedMatching +GARD:4359 Ringed hair disease skos:narrowMatch OMIM:180600 semapv:UnspecifiedMatching +GARD:436 Adult-onset Still disease skos:exactMatch Orphanet:829 semapv:UnspecifiedMatching +GARD:4361 Pili torti skos:exactMatch Orphanet:2889 semapv:UnspecifiedMatching +GARD:4361 Pili torti skos:narrowMatch OMIM:261900 semapv:UnspecifiedMatching +GARD:4362 Pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch Orphanet:2891 semapv:UnspecifiedMatching +GARD:4362 Pili torti-developmental delay-neurological abnormalities syndrome skos:narrowMatch OMIM:261990 semapv:UnspecifiedMatching +GARD:4364 Pili torti-onychodysplasia syndrome skos:exactMatch Orphanet:2890 semapv:UnspecifiedMatching +GARD:4365 Ophthalmomandibulomelic dysplasia skos:exactMatch Orphanet:2741 semapv:UnspecifiedMatching +GARD:4365 Ophthalmomandibulomelic dysplasia skos:narrowMatch OMIM:164900 semapv:UnspecifiedMatching +GARD:4369 Trichodermodysplasia-dental alterations syndrome skos:exactMatch Orphanet:3353 semapv:UnspecifiedMatching +GARD:4372 Pitt-Hopkins syndrome skos:exactMatch Orphanet:2896 semapv:UnspecifiedMatching +GARD:4372 Pitt-Hopkins syndrome skos:narrowMatch OMIM:610954 semapv:UnspecifiedMatching +GARD:4375 Thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch Orphanet:1078 semapv:UnspecifiedMatching +GARD:4375 Thumb stiffness-brachydactyly-intellectual disability syndrome skos:narrowMatch OMIM:188201 semapv:UnspecifiedMatching +GARD:438 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 skos:exactMatch Orphanet:62 semapv:UnspecifiedMatching +GARD:438 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 skos:narrowMatch OMIM:608099 semapv:UnspecifiedMatching +GARD:4380 Hypoplasminogenemia skos:exactMatch Orphanet:722 semapv:UnspecifiedMatching +GARD:4380 Hypoplasminogenemia skos:narrowMatch OMIM:217090 semapv:UnspecifiedMatching +GARD:4381 Congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch Orphanet:465 semapv:UnspecifiedMatching +GARD:4381 Congenital plasminogen activator inhibitor type 1 deficiency skos:narrowMatch OMIM:613329 semapv:UnspecifiedMatching +GARD:4382 Platyspondylic dysplasia, Torrance type skos:exactMatch Orphanet:85166 semapv:UnspecifiedMatching +GARD:4382 Platyspondylic dysplasia, Torrance type skos:narrowMatch OMIM:151210 semapv:UnspecifiedMatching +GARD:4386 Pneumocystosis skos:exactMatch Orphanet:723 semapv:UnspecifiedMatching +GARD:4391 Kindler epidermolysis bullosa skos:exactMatch Orphanet:2908 semapv:UnspecifiedMatching +GARD:4392 Rothmund-Thomson syndrome skos:exactMatch Orphanet:2909 semapv:UnspecifiedMatching +GARD:4392 Rothmund-Thomson syndrome skos:narrowMatch OMIM:268400 semapv:UnspecifiedMatching +GARD:44 Haim-Munk syndrome skos:exactMatch Orphanet:2342 semapv:UnspecifiedMatching +GARD:44 Haim-Munk syndrome skos:narrowMatch OMIM:245010 semapv:UnspecifiedMatching +GARD:4410 Non-syndromic polydactyly skos:exactMatch Orphanet:2913 semapv:UnspecifiedMatching +GARD:4410 Non-syndromic polydactyly skos:narrowMatch OMIM:603596 semapv:UnspecifiedMatching +GARD:4412 Orofaciodigital syndrome type 6 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching +GARD:4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:277170 semapv:UnspecifiedMatching +GARD:4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:300804 semapv:UnspecifiedMatching +GARD:4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:614815 semapv:UnspecifiedMatching +GARD:4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:615665 semapv:UnspecifiedMatching +GARD:4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:617127 semapv:UnspecifiedMatching +GARD:4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:618763 semapv:UnspecifiedMatching +GARD:4413 Polydactyly-myopia syndrome skos:exactMatch Orphanet:2917 semapv:UnspecifiedMatching +GARD:4413 Polydactyly-myopia syndrome skos:narrowMatch OMIM:174310 semapv:UnspecifiedMatching +GARD:4414 Polydactyly, postaxial, type a1 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +GARD:4414 Polydactyly, postaxial, type a1 skos:exactMatch OMIM:174200 semapv:UnspecifiedMatching +GARD:4417 Polydactyly of a biphalangeal thumb skos:exactMatch Orphanet:93339 semapv:UnspecifiedMatching +GARD:4417 Polydactyly of a biphalangeal thumb skos:narrowMatch OMIM:174400 semapv:UnspecifiedMatching +GARD:4421 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching +GARD:4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:604772 semapv:UnspecifiedMatching +GARD:4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:611938 semapv:UnspecifiedMatching +GARD:4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:614021 semapv:UnspecifiedMatching +GARD:4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:614916 semapv:UnspecifiedMatching +GARD:4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:615441 semapv:UnspecifiedMatching +GARD:4424 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:exactMatch Orphanet:2928 semapv:UnspecifiedMatching +GARD:4427 Cronkhite-Canada syndrome skos:exactMatch Orphanet:2930 semapv:UnspecifiedMatching +GARD:4427 Cronkhite-Canada syndrome skos:narrowMatch OMIM:175500 semapv:UnspecifiedMatching +GARD:4428 Polysyndactyly-cardiac malformation syndrome skos:exactMatch Orphanet:2934 semapv:UnspecifiedMatching +GARD:4428 Polysyndactyly-cardiac malformation syndrome skos:narrowMatch OMIM:263630 semapv:UnspecifiedMatching +GARD:4434 Syndactyly type 4 skos:exactMatch Orphanet:93405 semapv:UnspecifiedMatching +GARD:4434 Syndactyly type 4 skos:narrowMatch OMIM:186200 semapv:UnspecifiedMatching +GARD:4436 Bartsocas-Papas syndrome skos:exactMatch Orphanet:1234 semapv:UnspecifiedMatching +GARD:4436 Bartsocas-Papas syndrome skos:narrowMatch OMIM:263650 semapv:UnspecifiedMatching +GARD:4436 Bartsocas-Papas syndrome skos:narrowMatch OMIM:619339 semapv:UnspecifiedMatching +GARD:4437 Porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch Orphanet:2941 semapv:UnspecifiedMatching +GARD:4437 Porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:narrowMatch OMIM:601322 semapv:UnspecifiedMatching +GARD:4438 Porokeratosis of Mibelli skos:exactMatch Orphanet:735 semapv:UnspecifiedMatching +GARD:4438 Porokeratosis of Mibelli skos:narrowMatch OMIM:175800 semapv:UnspecifiedMatching +GARD:4438 Porokeratosis of Mibelli skos:narrowMatch OMIM:175900 semapv:UnspecifiedMatching +GARD:4439 Punctate palmoplantar keratoderma type 2 skos:exactMatch Orphanet:79502 semapv:UnspecifiedMatching +GARD:4439 Punctate palmoplantar keratoderma type 2 skos:narrowMatch OMIM:175860 semapv:UnspecifiedMatching +GARD:4446 Congenital erythropoietic porphyria skos:exactMatch Orphanet:79277 semapv:UnspecifiedMatching +GARD:4446 Congenital erythropoietic porphyria skos:narrowMatch OMIM:263700 semapv:UnspecifiedMatching +GARD:4454 Postpoliomyelitis syndrome skos:exactMatch Orphanet:2942 semapv:UnspecifiedMatching +GARD:4457 Posterior uveitis skos:exactMatch Orphanet:280892 semapv:UnspecifiedMatching +GARD:4459 Potassium-aggravated myotonia skos:exactMatch Orphanet:612 semapv:UnspecifiedMatching +GARD:4459 Potassium-aggravated myotonia skos:narrowMatch OMIM:608390 semapv:UnspecifiedMatching +GARD:4465 PHAVER syndrome skos:exactMatch Orphanet:2876 semapv:UnspecifiedMatching +GARD:4465 PHAVER syndrome skos:narrowMatch OMIM:261575 semapv:UnspecifiedMatching +GARD:4470 Guttmacher syndrome skos:exactMatch Orphanet:2957 semapv:UnspecifiedMatching +GARD:4470 Guttmacher syndrome skos:narrowMatch OMIM:176305 semapv:UnspecifiedMatching +GARD:4475 Familial male-limited precocious puberty skos:exactMatch Orphanet:3000 semapv:UnspecifiedMatching +GARD:4475 Familial male-limited precocious puberty skos:narrowMatch OMIM:176410 semapv:UnspecifiedMatching +GARD:4477 Congenital prekallikrein deficiency skos:exactMatch Orphanet:749 semapv:UnspecifiedMatching +GARD:4477 Congenital prekallikrein deficiency skos:narrowMatch OMIM:612423 semapv:UnspecifiedMatching +GARD:448 Vici syndrome skos:exactMatch Orphanet:1493 semapv:UnspecifiedMatching +GARD:448 Vici syndrome skos:narrowMatch OMIM:242840 semapv:UnspecifiedMatching +GARD:4482 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome skos:exactMatch Orphanet:2958 semapv:UnspecifiedMatching +GARD:4482 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome skos:narrowMatch OMIM:309610 semapv:UnspecifiedMatching +GARD:4483 Griscelli syndrome type 2 skos:exactMatch Orphanet:79477 semapv:UnspecifiedMatching +GARD:4483 Griscelli syndrome type 2 skos:narrowMatch OMIM:607624 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:215518 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:215520 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:242670 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:242680 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:244400 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:300991 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:606763 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:608644 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:608646 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:608647 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:610852 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:611884 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612274 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612444 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612518 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612649 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612650 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:613193 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:613807 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:613808 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:614017 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:614679 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:614874 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:614935 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615067 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615294 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615444 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615451 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615481 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615482 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615500 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615504 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615505 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615872 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:616037 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:616481 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:616726 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:617091 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:617092 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:617577 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618063 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618449 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618695 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618781 semapv:UnspecifiedMatching +GARD:4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618801 semapv:UnspecifiedMatching +GARD:4485 Juvenile primary lateral sclerosis skos:exactMatch Orphanet:247604 semapv:UnspecifiedMatching +GARD:4485 Juvenile primary lateral sclerosis skos:narrowMatch OMIM:606353 semapv:UnspecifiedMatching +GARD:4488 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome skos:exactMatch Orphanet:3042 semapv:UnspecifiedMatching +GARD:4488 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome skos:narrowMatch OMIM:259050 semapv:UnspecifiedMatching +GARD:4494 Progeria-short stature-pigmented nevi syndrome skos:exactMatch Orphanet:2959 semapv:UnspecifiedMatching +GARD:4494 Progeria-short stature-pigmented nevi syndrome skos:narrowMatch OMIM:176690 semapv:UnspecifiedMatching +GARD:4497 Progeroid syndrome, Petty type skos:exactMatch Orphanet:2963 semapv:UnspecifiedMatching +GARD:4497 Progeroid syndrome, Petty type skos:narrowMatch OMIM:612289 semapv:UnspecifiedMatching +GARD:45 Congenital varicella syndrome skos:exactMatch Orphanet:291 semapv:UnspecifiedMatching +GARD:4500 Acromelanosis skos:exactMatch Orphanet:39 semapv:UnspecifiedMatching +GARD:4503 Progressive external ophthalmoplegia skos:exactMatch Orphanet:520820 semapv:UnspecifiedMatching +GARD:4504 Deafness, x-linked 2 skos:broadMatch Orphanet:90641 semapv:UnspecifiedMatching +GARD:4504 Deafness, x-linked 2 skos:exactMatch OMIM:304400 semapv:UnspecifiedMatching +GARD:4507 Atypical progressive supranuclear palsy syndrome skos:exactMatch Orphanet:99750 semapv:UnspecifiedMatching +GARD:4507 Atypical progressive supranuclear palsy syndrome skos:narrowMatch OMIM:260540 semapv:UnspecifiedMatching +GARD:4508 Prolactinoma skos:exactMatch Orphanet:2965 semapv:UnspecifiedMatching +GARD:4509 Proliferating trichilemmal cyst skos:exactMatch Orphanet:492 semapv:UnspecifiedMatching +GARD:4513 Properdin deficiency skos:exactMatch Orphanet:2966 semapv:UnspecifiedMatching +GARD:4513 Properdin deficiency skos:narrowMatch OMIM:312060 semapv:UnspecifiedMatching +GARD:4518 Aprosencephaly cerebellar dysgenesis skos:exactMatch Orphanet:1126 semapv:UnspecifiedMatching +GARD:4518 Aprosencephaly cerebellar dysgenesis skos:narrowMatch OMIM:601374 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:exactMatch Orphanet:1331 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:176807 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:300147 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:300704 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:601518 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:602759 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:603688 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:608656 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:608658 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:609299 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:609558 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:610321 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:610997 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:611100 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:611868 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:611928 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:611955 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:611958 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:611959 semapv:UnspecifiedMatching +GARD:4520 Familial prostate cancer skos:narrowMatch OMIM:614731 semapv:UnspecifiedMatching +GARD:4522 Transcobalamin I deficiency skos:exactMatch Orphanet:2967 semapv:UnspecifiedMatching +GARD:4522 Transcobalamin I deficiency skos:narrowMatch OMIM:193090 semapv:UnspecifiedMatching +GARD:4527 Autosomal erythropoietic protoporphyria skos:exactMatch Orphanet:79278 semapv:UnspecifiedMatching +GARD:4527 Autosomal erythropoietic protoporphyria skos:narrowMatch OMIM:177000 semapv:UnspecifiedMatching +GARD:4528 Corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch Orphanet:2508 semapv:UnspecifiedMatching +GARD:4528 Corpus callosum agenesis-abnormal genitalia syndrome skos:narrowMatch OMIM:300004 semapv:UnspecifiedMatching +GARD:453 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch Orphanet:90301 semapv:UnspecifiedMatching +GARD:453 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:narrowMatch OMIM:200170 semapv:UnspecifiedMatching +GARD:4531 Proximal spinal muscular atrophy skos:exactMatch Orphanet:70 semapv:UnspecifiedMatching +GARD:4531 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253300 semapv:UnspecifiedMatching +GARD:4531 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253400 semapv:UnspecifiedMatching +GARD:4531 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253550 semapv:UnspecifiedMatching +GARD:4531 Proximal spinal muscular atrophy skos:narrowMatch OMIM:271150 semapv:UnspecifiedMatching +GARD:4536 Pseudopelade of Brocq skos:exactMatch Orphanet:129 semapv:UnspecifiedMatching +GARD:4539 Bifunctional enzyme deficiency skos:exactMatch Orphanet:300 semapv:UnspecifiedMatching +GARD:4539 Bifunctional enzyme deficiency skos:narrowMatch OMIM:261515 semapv:UnspecifiedMatching +GARD:454 Accessory pancreas skos:exactMatch Orphanet:674 semapv:UnspecifiedMatching +GARD:4540 Pseudoachondroplasia skos:exactMatch Orphanet:750 semapv:UnspecifiedMatching +GARD:4540 Pseudoachondroplasia skos:narrowMatch OMIM:177170 semapv:UnspecifiedMatching +GARD:4543 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch Orphanet:2971 semapv:UnspecifiedMatching +GARD:4543 Peroxisomal acyl-CoA oxidase deficiency skos:narrowMatch OMIM:264470 semapv:UnspecifiedMatching +GARD:4544 Pseudoaminopterin syndrome skos:exactMatch Orphanet:221120 semapv:UnspecifiedMatching +GARD:4544 Pseudoaminopterin syndrome skos:narrowMatch OMIM:600325 semapv:UnspecifiedMatching +GARD:455 Achalasia, familial esophageal skos:broadMatch Orphanet:930 semapv:UnspecifiedMatching +GARD:455 Achalasia, familial esophageal skos:exactMatch OMIM:200400 semapv:UnspecifiedMatching +GARD:4550 Disorder of sex development-intellectual disability syndrome skos:exactMatch Orphanet:2983 semapv:UnspecifiedMatching +GARD:4550 Disorder of sex development-intellectual disability syndrome skos:narrowMatch OMIM:600122 semapv:UnspecifiedMatching +GARD:4552 Generalized pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171876 semapv:UnspecifiedMatching +GARD:4552 Generalized pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:264350 semapv:UnspecifiedMatching +GARD:4553 Pseudohypoaldosteronism type 2 skos:exactMatch Orphanet:757 semapv:UnspecifiedMatching +GARD:4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:145260 semapv:UnspecifiedMatching +GARD:4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614491 semapv:UnspecifiedMatching +GARD:4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614492 semapv:UnspecifiedMatching +GARD:4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614495 semapv:UnspecifiedMatching +GARD:4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614496 semapv:UnspecifiedMatching +GARD:4559 Acrootoocular syndrome skos:exactMatch Orphanet:2980 semapv:UnspecifiedMatching +GARD:4559 Acrootoocular syndrome skos:narrowMatch OMIM:264475 semapv:UnspecifiedMatching +GARD:456 Achalasia-microcephaly syndrome skos:exactMatch Orphanet:929 semapv:UnspecifiedMatching +GARD:456 Achalasia-microcephaly syndrome skos:narrowMatch OMIM:200450 semapv:UnspecifiedMatching +GARD:4561 Idiopathic intracranial hypertension skos:exactMatch Orphanet:238624 semapv:UnspecifiedMatching +GARD:4561 Idiopathic intracranial hypertension skos:narrowMatch OMIM:243200 semapv:UnspecifiedMatching +GARD:4568 Pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch Orphanet:2988 semapv:UnspecifiedMatching +GARD:4568 Pterygium colli-intellectual disability-digital anomalies syndrome skos:narrowMatch OMIM:600159 semapv:UnspecifiedMatching +GARD:4569 Familial pterygium of the conjunctiva skos:exactMatch Orphanet:2989 semapv:UnspecifiedMatching +GARD:4569 Familial pterygium of the conjunctiva skos:narrowMatch OMIM:178000 semapv:UnspecifiedMatching +GARD:457 Triple A syndrome skos:exactMatch Orphanet:869 semapv:UnspecifiedMatching +GARD:457 Triple A syndrome skos:narrowMatch OMIM:231550 semapv:UnspecifiedMatching +GARD:457 Triple A syndrome skos:narrowMatch OMIM:615510 semapv:UnspecifiedMatching +GARD:4570 Antecubital pterygium syndrome skos:exactMatch Orphanet:2987 semapv:UnspecifiedMatching +GARD:4570 Antecubital pterygium syndrome skos:narrowMatch OMIM:178200 semapv:UnspecifiedMatching +GARD:4573 X-linked lethal multiple pterygium syndrome skos:exactMatch Orphanet:79447 semapv:UnspecifiedMatching +GARD:4573 X-linked lethal multiple pterygium syndrome skos:narrowMatch OMIM:312150 semapv:UnspecifiedMatching +GARD:4577 Ptosis-strabismus-ectopic pupils syndrome skos:exactMatch Orphanet:2999 semapv:UnspecifiedMatching +GARD:4577 Ptosis-strabismus-ectopic pupils syndrome skos:narrowMatch OMIM:178330 semapv:UnspecifiedMatching +GARD:458 Spondylometaphyseal dysplasia, A4 type skos:exactMatch Orphanet:168555 semapv:UnspecifiedMatching +GARD:458 Spondylometaphyseal dysplasia, A4 type skos:narrowMatch OMIM:609052 semapv:UnspecifiedMatching +GARD:4582 Hereditary pulmonary alveolar proteinosis skos:exactMatch Orphanet:264675 semapv:UnspecifiedMatching +GARD:4582 Hereditary pulmonary alveolar proteinosis skos:narrowMatch OMIM:300770 semapv:UnspecifiedMatching +GARD:4582 Hereditary pulmonary alveolar proteinosis skos:narrowMatch OMIM:614370 semapv:UnspecifiedMatching +GARD:4584 Pulmonary arteriovenous malformation skos:exactMatch Orphanet:2038 semapv:UnspecifiedMatching +GARD:4584 Pulmonary arteriovenous malformation skos:narrowMatch OMIM:265140 semapv:UnspecifiedMatching +GARD:4586 Abnormal origin of right or left pulmonary artery from the aorta skos:exactMatch Orphanet:99050 semapv:UnspecifiedMatching +GARD:4588 Pulmonary atresia with ventricular septal defect skos:exactMatch Orphanet:1207 semapv:UnspecifiedMatching +GARD:4588 Pulmonary atresia with ventricular septal defect skos:narrowMatch OMIM:178370 semapv:UnspecifiedMatching +GARD:4589 Peripheral pulmonary stenosis skos:exactMatch Orphanet:99084 semapv:UnspecifiedMatching +GARD:459 Achondrogenesis type 1A skos:exactMatch Orphanet:93299 semapv:UnspecifiedMatching +GARD:459 Achondrogenesis type 1A skos:narrowMatch OMIM:200600 semapv:UnspecifiedMatching +GARD:4593 Congenital pulmonary sequestration skos:exactMatch Orphanet:3161 semapv:UnspecifiedMatching +GARD:4594 Supravalvular pulmonary stenosis skos:exactMatch Orphanet:3192 semapv:UnspecifiedMatching +GARD:4597 Pulmonary valve agenesis skos:exactMatch Orphanet:982 semapv:UnspecifiedMatching +GARD:4598 Congenital pulmonary veins atresia or stenosis skos:exactMatch Orphanet:3188 semapv:UnspecifiedMatching +GARD:4599 Congenital pulmonary venous return anomaly skos:exactMatch Orphanet:3090 semapv:UnspecifiedMatching +GARD:460 Achondrogenesis type 1B skos:exactMatch Orphanet:93298 semapv:UnspecifiedMatching +GARD:460 Achondrogenesis type 1B skos:narrowMatch OMIM:600972 semapv:UnspecifiedMatching +GARD:4600 Pulmonary atresia-intact ventricular septum syndrome skos:exactMatch Orphanet:1208 semapv:UnspecifiedMatching +GARD:4600 Pulmonary atresia-intact ventricular septum syndrome skos:narrowMatch OMIM:265150 semapv:UnspecifiedMatching +GARD:4603 Punctate acrokeratoderma freckle-like pigmentation skos:exactMatch Orphanet:99710 semapv:UnspecifiedMatching +GARD:4606 Purine nucleoside phosphorylase deficiency skos:exactMatch Orphanet:760 semapv:UnspecifiedMatching +GARD:4606 Purine nucleoside phosphorylase deficiency skos:narrowMatch OMIM:613179 semapv:UnspecifiedMatching +GARD:4607 Immune-mediated thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93585 semapv:UnspecifiedMatching +GARD:4610 Pyknoachondrogenesis skos:exactMatch Orphanet:3003 semapv:UnspecifiedMatching +GARD:4610 Pyknoachondrogenesis skos:narrowMatch OMIM:265880 semapv:UnspecifiedMatching +GARD:4611 Pycnodysostosis skos:exactMatch Orphanet:763 semapv:UnspecifiedMatching +GARD:4611 Pycnodysostosis skos:narrowMatch OMIM:265800 semapv:UnspecifiedMatching +GARD:4612 Pyle disease skos:exactMatch Orphanet:3005 semapv:UnspecifiedMatching +GARD:4612 Pyle disease skos:narrowMatch OMIM:265900 semapv:UnspecifiedMatching +GARD:4614 Pyomyositis skos:exactMatch Orphanet:764 semapv:UnspecifiedMatching +GARD:4620 Pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch Orphanet:79243 semapv:UnspecifiedMatching +GARD:4620 Pyruvate dehydrogenase E1-alpha deficiency skos:narrowMatch OMIM:312170 semapv:UnspecifiedMatching +GARD:4627 Radial ray hypoplasia-choanal atresia syndrome skos:exactMatch Orphanet:3026 semapv:UnspecifiedMatching +GARD:4627 Radial ray hypoplasia-choanal atresia syndrome skos:narrowMatch OMIM:179270 semapv:UnspecifiedMatching +GARD:4628 Oculofaciocardiodental syndrome skos:exactMatch Orphanet:2712 semapv:UnspecifiedMatching +GARD:4628 Oculofaciocardiodental syndrome skos:narrowMatch OMIM:300166 semapv:UnspecifiedMatching +GARD:4633 Absent radius-anogenital anomalies syndrome skos:exactMatch Orphanet:3016 semapv:UnspecifiedMatching +GARD:4633 Absent radius-anogenital anomalies syndrome skos:narrowMatch OMIM:312190 semapv:UnspecifiedMatching +GARD:4634 Leukocyte adhesion deficiency type II skos:exactMatch Orphanet:99843 semapv:UnspecifiedMatching +GARD:4634 Leukocyte adhesion deficiency type II skos:narrowMatch OMIM:266265 semapv:UnspecifiedMatching +GARD:4635 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome skos:exactMatch Orphanet:3018 semapv:UnspecifiedMatching +GARD:4635 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome skos:narrowMatch OMIM:277175 semapv:UnspecifiedMatching +GARD:4636 Ramos-Arroyo syndrome skos:exactMatch Orphanet:1051 semapv:UnspecifiedMatching +GARD:4636 Ramos-Arroyo syndrome skos:narrowMatch OMIM:122430 semapv:UnspecifiedMatching +GARD:4637 RAPADILINO syndrome skos:exactMatch Orphanet:3021 semapv:UnspecifiedMatching +GARD:4637 RAPADILINO syndrome skos:narrowMatch OMIM:266280 semapv:UnspecifiedMatching +GARD:4638 External auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch Orphanet:3023 semapv:UnspecifiedMatching +GARD:4638 External auditory canal atresia-vertical talus-hypertelorism syndrome skos:narrowMatch OMIM:133705 semapv:UnspecifiedMatching +GARD:4641 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch Orphanet:2278 semapv:UnspecifiedMatching +GARD:4641 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:narrowMatch OMIM:242530 semapv:UnspecifiedMatching +GARD:4644 Ataxia-deafness-intellectual disability syndrome skos:exactMatch Orphanet:1188 semapv:UnspecifiedMatching +GARD:4644 Ataxia-deafness-intellectual disability syndrome skos:narrowMatch OMIM:208850 semapv:UnspecifiedMatching +GARD:4647 Complex regional pain syndrome skos:exactMatch Orphanet:83452 semapv:UnspecifiedMatching +GARD:4647 Complex regional pain syndrome skos:narrowMatch OMIM:604335 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:exactMatch Orphanet:772 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:202370 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:266510 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:601539 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:614863 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:614867 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:614871 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:614873 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:614877 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:614885 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:614920 semapv:UnspecifiedMatching +GARD:4648 Infantile Refsum disease skos:narrowMatch OMIM:617370 semapv:UnspecifiedMatching +GARD:465 Isovaleric acidemia skos:exactMatch Orphanet:33 semapv:UnspecifiedMatching +GARD:465 Isovaleric acidemia skos:narrowMatch OMIM:243500 semapv:UnspecifiedMatching +GARD:4655 Renal caliceal diverticuli-deafness syndrome skos:exactMatch Orphanet:2838 semapv:UnspecifiedMatching +GARD:4665 NPHP3-related Meckel-like syndrome skos:exactMatch Orphanet:3032 semapv:UnspecifiedMatching +GARD:4665 NPHP3-related Meckel-like syndrome skos:narrowMatch OMIM:267010 semapv:UnspecifiedMatching +GARD:4666 Autosomal recessive distal renal tubular acidosis skos:exactMatch Orphanet:402041 semapv:UnspecifiedMatching +GARD:4666 Autosomal recessive distal renal tubular acidosis skos:narrowMatch OMIM:267300 semapv:UnspecifiedMatching +GARD:4666 Autosomal recessive distal renal tubular acidosis skos:narrowMatch OMIM:602722 semapv:UnspecifiedMatching +GARD:4667 Distal renal tubular acidosis skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +GARD:4667 Distal renal tubular acidosis skos:narrowMatch OMIM:179800 semapv:UnspecifiedMatching +GARD:4667 Distal renal tubular acidosis skos:narrowMatch OMIM:267300 semapv:UnspecifiedMatching +GARD:4667 Distal renal tubular acidosis skos:narrowMatch OMIM:602722 semapv:UnspecifiedMatching +GARD:4667 Distal renal tubular acidosis skos:narrowMatch OMIM:611590 semapv:UnspecifiedMatching +GARD:4668 Autosomal dominant distal renal tubular acidosis skos:exactMatch Orphanet:93608 semapv:UnspecifiedMatching +GARD:4668 Autosomal dominant distal renal tubular acidosis skos:narrowMatch OMIM:179800 semapv:UnspecifiedMatching +GARD:467 Propionic acidemia skos:exactMatch Orphanet:35 semapv:UnspecifiedMatching +GARD:467 Propionic acidemia skos:narrowMatch OMIM:606054 semapv:UnspecifiedMatching +GARD:4680 X-linked retinal dysplasia skos:exactMatch Orphanet:1852 semapv:UnspecifiedMatching +GARD:4680 X-linked retinal dysplasia skos:narrowMatch OMIM:312550 semapv:UnspecifiedMatching +GARD:4683 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome skos:exactMatch Orphanet:3085 semapv:UnspecifiedMatching +GARD:4683 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome skos:narrowMatch OMIM:268020 semapv:UnspecifiedMatching +GARD:4684 Retinitis pigmentosa-deafness syndrome skos:broadMatch Orphanet:231183 semapv:UnspecifiedMatching +GARD:4684 Retinitis pigmentosa-deafness syndrome skos:exactMatch OMIM:500004 semapv:UnspecifiedMatching +GARD:469 Pyramidal molars-abnormal upper lip syndrome skos:exactMatch Orphanet:2561 semapv:UnspecifiedMatching +GARD:469 Pyramidal molars-abnormal upper lip syndrome skos:narrowMatch OMIM:200970 semapv:UnspecifiedMatching +GARD:4690 X-linked retinoschisis skos:exactMatch Orphanet:792 semapv:UnspecifiedMatching +GARD:4690 X-linked retinoschisis skos:narrowMatch OMIM:312700 semapv:UnspecifiedMatching +GARD:4694 Atypical Rett syndrome skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching +GARD:4694 Atypical Rett syndrome skos:narrowMatch OMIM:300672 semapv:UnspecifiedMatching +GARD:4694 Atypical Rett syndrome skos:narrowMatch OMIM:312750 semapv:UnspecifiedMatching +GARD:4694 Atypical Rett syndrome skos:narrowMatch OMIM:613454 semapv:UnspecifiedMatching +GARD:4694 Atypical Rett syndrome skos:narrowMatch OMIM:617903 semapv:UnspecifiedMatching +GARD:4694 Atypical Rett syndrome skos:narrowMatch OMIM:617904 semapv:UnspecifiedMatching +GARD:4695 Revesz syndrome skos:exactMatch Orphanet:3088 semapv:UnspecifiedMatching +GARD:4695 Revesz syndrome skos:narrowMatch OMIM:268130 semapv:UnspecifiedMatching +GARD:4697 Reynolds syndrome skos:exactMatch Orphanet:779 semapv:UnspecifiedMatching +GARD:4697 Reynolds syndrome skos:narrowMatch OMIM:613471 semapv:UnspecifiedMatching +GARD:47 Crigler-Najjar syndrome type 1 skos:exactMatch Orphanet:79234 semapv:UnspecifiedMatching +GARD:47 Crigler-Najjar syndrome type 1 skos:narrowMatch OMIM:218800 semapv:UnspecifiedMatching +GARD:4701 Alveolar rhabdomyosarcoma skos:exactMatch Orphanet:99756 semapv:UnspecifiedMatching +GARD:4701 Alveolar rhabdomyosarcoma skos:narrowMatch OMIM:268220 semapv:UnspecifiedMatching +GARD:4702 Embryonal rhabdomyosarcoma skos:exactMatch Orphanet:99757 semapv:UnspecifiedMatching +GARD:4702 Embryonal rhabdomyosarcoma skos:narrowMatch OMIM:268210 semapv:UnspecifiedMatching +GARD:4703 Rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch Orphanet:2831 semapv:UnspecifiedMatching +GARD:4703 Rhizomelic dysplasia, Patterson-Lowry type skos:narrowMatch OMIM:601438 semapv:UnspecifiedMatching +GARD:4704 Polymyalgia rheumatica skos:exactMatch Orphanet:93569 semapv:UnspecifiedMatching +GARD:4705 Rhizomelic syndrome, Urbach type skos:exactMatch Orphanet:3098 semapv:UnspecifiedMatching +GARD:4705 Rhizomelic syndrome, Urbach type skos:narrowMatch OMIM:268250 semapv:UnspecifiedMatching +GARD:4709 Richieri Costa-da Silva syndrome skos:exactMatch Orphanet:3101 semapv:UnspecifiedMatching +GARD:4709 Richieri Costa-da Silva syndrome skos:narrowMatch OMIM:255710 semapv:UnspecifiedMatching +GARD:4718 Richieri Costa-Pereira syndrome skos:exactMatch Orphanet:3102 semapv:UnspecifiedMatching +GARD:4718 Richieri Costa-Pereira syndrome skos:narrowMatch OMIM:268305 semapv:UnspecifiedMatching +GARD:4721 Isolated right ventricular hypoplasia skos:exactMatch Orphanet:439 semapv:UnspecifiedMatching +GARD:4721 Isolated right ventricular hypoplasia skos:narrowMatch OMIM:277200 semapv:UnspecifiedMatching +GARD:4722 8q22.1 microdeletion syndrome skos:exactMatch Orphanet:178303 semapv:UnspecifiedMatching +GARD:4722 8q22.1 microdeletion syndrome skos:narrowMatch OMIM:608156 semapv:UnspecifiedMatching +GARD:4723 Rigid spine syndrome skos:exactMatch Orphanet:97244 semapv:UnspecifiedMatching +GARD:4723 Rigid spine syndrome skos:narrowMatch OMIM:602771 semapv:UnspecifiedMatching +GARD:4724 Ring chromosome 17 syndrome skos:exactMatch Orphanet:1441 semapv:UnspecifiedMatching +GARD:4729 Robin sequence-oligodactyly syndrome skos:exactMatch Orphanet:3104 semapv:UnspecifiedMatching +GARD:4729 Robin sequence-oligodactyly syndrome skos:narrowMatch OMIM:172880 semapv:UnspecifiedMatching +GARD:4730 Robinow-sorauf syndrome skos:broadMatch Orphanet:794 semapv:UnspecifiedMatching +GARD:4730 Robinow-sorauf syndrome skos:exactMatch OMIM:180750 semapv:UnspecifiedMatching +GARD:4732 Autosomal dominant deafness-onychodystrophy syndrome skos:exactMatch Orphanet:79499 semapv:UnspecifiedMatching +GARD:4732 Autosomal dominant deafness-onychodystrophy syndrome skos:narrowMatch OMIM:124480 semapv:UnspecifiedMatching +GARD:4733 Roch-Leri mesosomatous lipomatosis skos:exactMatch Orphanet:529 semapv:UnspecifiedMatching +GARD:4737 Mayer-Rokitansky-Küster-Hauser syndrome type 1 skos:exactMatch Orphanet:247775 semapv:UnspecifiedMatching +GARD:4737 Mayer-Rokitansky-Küster-Hauser syndrome type 1 skos:narrowMatch OMIM:277000 semapv:UnspecifiedMatching +GARD:4738 Rombo syndrome skos:exactMatch Orphanet:3110 semapv:UnspecifiedMatching +GARD:4738 Rombo syndrome skos:narrowMatch OMIM:180730 semapv:UnspecifiedMatching +GARD:4740 Ulna metaphyseal dysplasia syndrome skos:exactMatch Orphanet:1837 semapv:UnspecifiedMatching +GARD:4740 Ulna metaphyseal dysplasia syndrome skos:narrowMatch OMIM:191420 semapv:UnspecifiedMatching +GARD:4741 Roussy-Lévy syndrome skos:exactMatch Orphanet:3115 semapv:UnspecifiedMatching +GARD:4741 Roussy-Lévy syndrome skos:narrowMatch OMIM:180800 semapv:UnspecifiedMatching +GARD:4744 Congenital rubella syndrome skos:exactMatch Orphanet:290 semapv:UnspecifiedMatching +GARD:4748 Ruvalcaba syndrome skos:exactMatch Orphanet:3121 semapv:UnspecifiedMatching +GARD:4748 Ruvalcaba syndrome skos:narrowMatch OMIM:180870 semapv:UnspecifiedMatching +GARD:475 Acquired prothrombin deficiency skos:exactMatch Orphanet:26348 semapv:UnspecifiedMatching +GARD:4752 Kousseff syndrome skos:exactMatch Orphanet:2351 semapv:UnspecifiedMatching +GARD:4754 Salla disease skos:exactMatch Orphanet:309334 semapv:UnspecifiedMatching +GARD:4754 Salla disease skos:narrowMatch OMIM:604369 semapv:UnspecifiedMatching +GARD:476 Acquired ichthyosis skos:exactMatch Orphanet:454 semapv:UnspecifiedMatching +GARD:4767 Benign schwannoma skos:exactMatch Orphanet:252164 semapv:UnspecifiedMatching +GARD:4768 Schwannomatosis skos:exactMatch Orphanet:93921 semapv:UnspecifiedMatching +GARD:4768 Schwannomatosis skos:narrowMatch OMIM:162091 semapv:UnspecifiedMatching +GARD:4768 Schwannomatosis skos:narrowMatch OMIM:162260 semapv:UnspecifiedMatching +GARD:4768 Schwannomatosis skos:narrowMatch OMIM:615670 semapv:UnspecifiedMatching +GARD:4769 Congenital muscular dystrophy, Ullrich type skos:exactMatch Orphanet:75840 semapv:UnspecifiedMatching +GARD:4769 Congenital muscular dystrophy, Ullrich type skos:narrowMatch OMIM:254090 semapv:UnspecifiedMatching +GARD:4769 Congenital muscular dystrophy, Ullrich type skos:narrowMatch OMIM:616470 semapv:UnspecifiedMatching +GARD:4771 Sclerosteosis skos:exactMatch Orphanet:3152 semapv:UnspecifiedMatching +GARD:4771 Sclerosteosis skos:narrowMatch OMIM:269500 semapv:UnspecifiedMatching +GARD:4771 Sclerosteosis skos:narrowMatch OMIM:614305 semapv:UnspecifiedMatching +GARD:4774 Succinyl-CoA:3-oxoacid CoA transferase deficiency skos:exactMatch Orphanet:832 semapv:UnspecifiedMatching +GARD:4774 Succinyl-CoA:3-oxoacid CoA transferase deficiency skos:narrowMatch OMIM:245050 semapv:UnspecifiedMatching +GARD:4775 Aarskog-Scott syndrome skos:exactMatch Orphanet:915 semapv:UnspecifiedMatching +GARD:4775 Aarskog-Scott syndrome skos:narrowMatch OMIM:100050 semapv:UnspecifiedMatching +GARD:4775 Aarskog-Scott syndrome skos:narrowMatch OMIM:305400 semapv:UnspecifiedMatching +GARD:4776 Craniodigital-intellectual disability syndrome skos:exactMatch Orphanet:1514 semapv:UnspecifiedMatching +GARD:4777 Scott syndrome skos:exactMatch Orphanet:806 semapv:UnspecifiedMatching +GARD:4777 Scott syndrome skos:narrowMatch OMIM:262890 semapv:UnspecifiedMatching +GARD:4778 Facial dysmorphism-shawl scrotum-joint laxity syndrome skos:exactMatch Orphanet:1778 semapv:UnspecifiedMatching +GARD:4792 Testicular seminomatous germ cell tumor skos:exactMatch Orphanet:842 semapv:UnspecifiedMatching +GARD:4792 Testicular seminomatous germ cell tumor skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:220110 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619046 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619048 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619051 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619052 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619053 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619054 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619055 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619058 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619059 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619060 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619061 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619062 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619063 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619064 semapv:UnspecifiedMatching +GARD:48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619355 semapv:UnspecifiedMatching +GARD:480 Acro-renal-mandibular syndrome skos:exactMatch Orphanet:958 semapv:UnspecifiedMatching +GARD:480 Acro-renal-mandibular syndrome skos:narrowMatch OMIM:200980 semapv:UnspecifiedMatching +GARD:4815 Spontaneous periodic hypothermia skos:exactMatch Orphanet:29822 semapv:UnspecifiedMatching +GARD:4818 Shigellosis skos:exactMatch Orphanet:810 semapv:UnspecifiedMatching +GARD:4822 Short chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26792 semapv:UnspecifiedMatching +GARD:4822 Short chain acyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:201470 semapv:UnspecifiedMatching +GARD:4832 Short rib-polydactyly syndrome, Beemer-Langer type skos:exactMatch Orphanet:93268 semapv:UnspecifiedMatching +GARD:4832 Short rib-polydactyly syndrome, Beemer-Langer type skos:narrowMatch OMIM:269860 semapv:UnspecifiedMatching +GARD:4833 Short rib-polydactyly syndrome, Majewski type skos:exactMatch Orphanet:93269 semapv:UnspecifiedMatching +GARD:4833 Short rib-polydactyly syndrome, Majewski type skos:narrowMatch OMIM:263520 semapv:UnspecifiedMatching +GARD:4833 Short rib-polydactyly syndrome, Majewski type skos:narrowMatch OMIM:613091 semapv:UnspecifiedMatching +GARD:4834 Short rib-polydactyly syndrome, Saldino-Noonan type skos:exactMatch Orphanet:93270 semapv:UnspecifiedMatching +GARD:4834 Short rib-polydactyly syndrome, Saldino-Noonan type skos:narrowMatch OMIM:613091 semapv:UnspecifiedMatching +GARD:4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:exactMatch Orphanet:93271 semapv:UnspecifiedMatching +GARD:4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:narrowMatch OMIM:613091 semapv:UnspecifiedMatching +GARD:4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:narrowMatch OMIM:614091 semapv:UnspecifiedMatching +GARD:4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:narrowMatch OMIM:615503 semapv:UnspecifiedMatching +GARD:4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:narrowMatch OMIM:615633 semapv:UnspecifiedMatching +GARD:4838 Short stature, Brussels type skos:exactMatch Orphanet:2867 semapv:UnspecifiedMatching +GARD:4838 Short stature, Brussels type skos:narrowMatch OMIM:601350 semapv:UnspecifiedMatching +GARD:484 Acrofrontofacionasal dysostosis skos:exactMatch Orphanet:1784 semapv:UnspecifiedMatching +GARD:484 Acrofrontofacionasal dysostosis skos:narrowMatch OMIM:201180 semapv:UnspecifiedMatching +GARD:4841 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:exactMatch Orphanet:2866 semapv:UnspecifiedMatching +GARD:4856 Short stature-wormian bones-dextrocardia syndrome skos:exactMatch Orphanet:2863 semapv:UnspecifiedMatching +GARD:4856 Short stature-wormian bones-dextrocardia syndrome skos:narrowMatch OMIM:185120 semapv:UnspecifiedMatching +GARD:4861 Shprintzen-Goldberg syndrome skos:exactMatch Orphanet:2462 semapv:UnspecifiedMatching +GARD:4861 Shprintzen-Goldberg syndrome skos:narrowMatch OMIM:182212 semapv:UnspecifiedMatching +GARD:4863 Shwachman-Diamond syndrome skos:exactMatch Orphanet:811 semapv:UnspecifiedMatching +GARD:4863 Shwachman-Diamond syndrome skos:narrowMatch OMIM:260400 semapv:UnspecifiedMatching +GARD:4863 Shwachman-Diamond syndrome skos:narrowMatch OMIM:617941 semapv:UnspecifiedMatching +GARD:4865 Sialuria skos:exactMatch Orphanet:3166 semapv:UnspecifiedMatching +GARD:4865 Sialuria skos:narrowMatch OMIM:269921 semapv:UnspecifiedMatching +GARD:4867 Siegler-Brewer-Carey syndrome skos:exactMatch Orphanet:3167 semapv:UnspecifiedMatching +GARD:4869 Sillence syndrome skos:exactMatch Orphanet:3168 semapv:UnspecifiedMatching +GARD:4869 Sillence syndrome skos:narrowMatch OMIM:113450 semapv:UnspecifiedMatching +GARD:4870 Silver-Russell syndrome skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching +GARD:4870 Silver-Russell syndrome skos:narrowMatch OMIM:180860 semapv:UnspecifiedMatching +GARD:4870 Silver-Russell syndrome skos:narrowMatch OMIM:312780 semapv:UnspecifiedMatching +GARD:4870 Silver-Russell syndrome skos:narrowMatch OMIM:616489 semapv:UnspecifiedMatching +GARD:4873 Flat face-microstomia-ear anomaly syndrome skos:exactMatch Orphanet:1968 semapv:UnspecifiedMatching +GARD:4873 Flat face-microstomia-ear anomaly syndrome skos:narrowMatch OMIM:182150 semapv:UnspecifiedMatching +GARD:4877 Solitary median maxillary central incisor skos:broadMatch Orphanet:280200 semapv:UnspecifiedMatching +GARD:4877 Solitary median maxillary central incisor skos:exactMatch OMIM:147250 semapv:UnspecifiedMatching +GARD:4879 Progressive familial heart block, type ii skos:broadMatch Orphanet:871 semapv:UnspecifiedMatching +GARD:4879 Progressive familial heart block, type ii skos:exactMatch OMIM:140400 semapv:UnspecifiedMatching +GARD:4880 Sinus node disease and myopia skos:broadMatch Orphanet:166282 semapv:UnspecifiedMatching +GARD:4880 Sinus node disease and myopia skos:exactMatch OMIM:182190 semapv:UnspecifiedMatching +GARD:4881 Multiple endocrine neoplasia type 2A skos:exactMatch Orphanet:247698 semapv:UnspecifiedMatching +GARD:4881 Multiple endocrine neoplasia type 2A skos:narrowMatch OMIM:171400 semapv:UnspecifiedMatching +GARD:4883 Situs inversus totalis skos:exactMatch Orphanet:101063 semapv:UnspecifiedMatching +GARD:4886 Mononen-Karnes-Senac syndrome skos:exactMatch Orphanet:2565 semapv:UnspecifiedMatching +GARD:4886 Mononen-Karnes-Senac syndrome skos:narrowMatch OMIM:301940 semapv:UnspecifiedMatching +GARD:4891 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome skos:exactMatch Orphanet:83629 semapv:UnspecifiedMatching +GARD:4891 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome skos:narrowMatch OMIM:300232 semapv:UnspecifiedMatching +GARD:4898 Soft tissue sarcoma skos:exactMatch Orphanet:3394 semapv:UnspecifiedMatching +GARD:4899 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch Orphanet:2234 semapv:UnspecifiedMatching +GARD:4899 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:narrowMatch OMIM:307500 semapv:UnspecifiedMatching +GARD:49 De Barsy syndrome skos:exactMatch Orphanet:2962 semapv:UnspecifiedMatching +GARD:49 De Barsy syndrome skos:narrowMatch OMIM:219150 semapv:UnspecifiedMatching +GARD:49 De Barsy syndrome skos:narrowMatch OMIM:614438 semapv:UnspecifiedMatching +GARD:4900 Somatostatinoma skos:exactMatch Orphanet:97283 semapv:UnspecifiedMatching +GARD:4905 Congenital heart defect-round face-developmental delay syndrome skos:exactMatch Orphanet:1355 semapv:UnspecifiedMatching +GARD:4905 Congenital heart defect-round face-developmental delay syndrome skos:narrowMatch OMIM:270460 semapv:UnspecifiedMatching +GARD:491 Acrodysplasia scoliosis skos:exactMatch Orphanet:2956 semapv:UnspecifiedMatching +GARD:4910 Autosomal recessive spastic ataxia of Charlevoix-Saguenay skos:exactMatch Orphanet:98 semapv:UnspecifiedMatching +GARD:4910 Autosomal recessive spastic ataxia of Charlevoix-Saguenay skos:narrowMatch OMIM:270550 semapv:UnspecifiedMatching +GARD:4914 Infantile-onset ascending hereditary spastic paralysis skos:exactMatch Orphanet:293168 semapv:UnspecifiedMatching +GARD:4914 Infantile-onset ascending hereditary spastic paralysis skos:narrowMatch OMIM:607225 semapv:UnspecifiedMatching +GARD:4918 Spastic paraplegia-precocious puberty syndrome skos:exactMatch Orphanet:2826 semapv:UnspecifiedMatching +GARD:4918 Spastic paraplegia-precocious puberty syndrome skos:narrowMatch OMIM:182820 semapv:UnspecifiedMatching +GARD:4919 Autosomal recessive spastic paraplegia type 11 skos:exactMatch Orphanet:2822 semapv:UnspecifiedMatching +GARD:4919 Autosomal recessive spastic paraplegia type 11 skos:narrowMatch OMIM:604360 semapv:UnspecifiedMatching +GARD:4921 Spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch Orphanet:2821 semapv:UnspecifiedMatching +GARD:4921 Spastic paraplegia-neuropathy-poikiloderma syndrome skos:narrowMatch OMIM:182815 semapv:UnspecifiedMatching +GARD:4922 Autosomal recessive spastic paraplegia type 18 skos:exactMatch Orphanet:209951 semapv:UnspecifiedMatching +GARD:4922 Autosomal recessive spastic paraplegia type 18 skos:narrowMatch OMIM:611225 semapv:UnspecifiedMatching +GARD:4923 Spastic paraplegia type 2 skos:exactMatch Orphanet:99015 semapv:UnspecifiedMatching +GARD:4923 Spastic paraplegia type 2 skos:narrowMatch OMIM:312920 semapv:UnspecifiedMatching +GARD:4924 Autosomal recessive spastic paraplegia type 39 skos:exactMatch Orphanet:139480 semapv:UnspecifiedMatching +GARD:4924 Autosomal recessive spastic paraplegia type 39 skos:narrowMatch OMIM:612020 semapv:UnspecifiedMatching +GARD:4925 Autosomal dominant spastic paraplegia type 4 skos:exactMatch Orphanet:100985 semapv:UnspecifiedMatching +GARD:4925 Autosomal dominant spastic paraplegia type 4 skos:narrowMatch OMIM:182601 semapv:UnspecifiedMatching +GARD:4926 Autosomal recessive spastic paraplegia type 5A skos:exactMatch Orphanet:100986 semapv:UnspecifiedMatching +GARD:4926 Autosomal recessive spastic paraplegia type 5A skos:narrowMatch OMIM:270800 semapv:UnspecifiedMatching +GARD:4927 Spastic paraplegia type 7 skos:exactMatch Orphanet:99013 semapv:UnspecifiedMatching +GARD:4927 Spastic paraplegia type 7 skos:narrowMatch OMIM:607259 semapv:UnspecifiedMatching +GARD:4928 Autosomal dominant spastic paraplegia type 6 skos:exactMatch Orphanet:100988 semapv:UnspecifiedMatching +GARD:4928 Autosomal dominant spastic paraplegia type 6 skos:narrowMatch OMIM:600363 semapv:UnspecifiedMatching +GARD:4931 Spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch Orphanet:2818 semapv:UnspecifiedMatching +GARD:4931 Spastic paraplegia-glaucoma-intellectual disability syndrome skos:narrowMatch OMIM:270850 semapv:UnspecifiedMatching +GARD:4932 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch Orphanet:3011 semapv:UnspecifiedMatching +GARD:4932 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:narrowMatch OMIM:270950 semapv:UnspecifiedMatching +GARD:4936 Weill-Marchesani syndrome skos:exactMatch Orphanet:3449 semapv:UnspecifiedMatching +GARD:4936 Weill-Marchesani syndrome skos:narrowMatch OMIM:277600 semapv:UnspecifiedMatching +GARD:4936 Weill-Marchesani syndrome skos:narrowMatch OMIM:608328 semapv:UnspecifiedMatching +GARD:4936 Weill-Marchesani syndrome skos:narrowMatch OMIM:614819 semapv:UnspecifiedMatching +GARD:4938 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching +GARD:4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204200 semapv:UnspecifiedMatching +GARD:4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204500 semapv:UnspecifiedMatching +GARD:4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +GARD:4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:600143 semapv:UnspecifiedMatching +GARD:4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:609055 semapv:UnspecifiedMatching +GARD:4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +GARD:494 Acrofacial dysostosis, Catania type skos:exactMatch Orphanet:1786 semapv:UnspecifiedMatching +GARD:494 Acrofacial dysostosis, Catania type skos:narrowMatch OMIM:101805 semapv:UnspecifiedMatching +GARD:4940 Spina bifida-hypospadias syndrome skos:exactMatch Orphanet:3176 semapv:UnspecifiedMatching +GARD:4942 Spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:exactMatch Orphanet:1217 semapv:UnspecifiedMatching +GARD:4945 Proximal spinal muscular atrophy type 2 skos:exactMatch Orphanet:83418 semapv:UnspecifiedMatching +GARD:4945 Proximal spinal muscular atrophy type 2 skos:narrowMatch OMIM:253550 semapv:UnspecifiedMatching +GARD:4947 Spinal muscular atrophy with congenital bone fractures 1 skos:broadMatch Orphanet:486811 semapv:UnspecifiedMatching +GARD:4947 Spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch OMIM:616866 semapv:UnspecifiedMatching +GARD:4950 Spinocerebellar ataxia type 30 skos:exactMatch Orphanet:211017 semapv:UnspecifiedMatching +GARD:4950 Spinocerebellar ataxia type 30 skos:narrowMatch OMIM:613371 semapv:UnspecifiedMatching +GARD:4952 Autosomal recessive cerebellar ataxia-movement disorder syndrome skos:exactMatch Orphanet:95434 semapv:UnspecifiedMatching +GARD:4952 Autosomal recessive cerebellar ataxia-movement disorder syndrome skos:narrowMatch OMIM:607317 semapv:UnspecifiedMatching +GARD:4953 Spinocerebellar ataxia type 5 skos:exactMatch Orphanet:98766 semapv:UnspecifiedMatching +GARD:4953 Spinocerebellar ataxia type 5 skos:narrowMatch OMIM:600224 semapv:UnspecifiedMatching +GARD:4954 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch Orphanet:284332 semapv:UnspecifiedMatching +GARD:4954 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:narrowMatch OMIM:608029 semapv:UnspecifiedMatching +GARD:4955 Spinocerebellar ataxia type 7 skos:exactMatch Orphanet:94147 semapv:UnspecifiedMatching +GARD:4955 Spinocerebellar ataxia type 7 skos:narrowMatch OMIM:164500 semapv:UnspecifiedMatching +GARD:4956 Spinocerebellar ataxia type 8 skos:exactMatch Orphanet:98760 semapv:UnspecifiedMatching +GARD:4956 Spinocerebellar ataxia type 8 skos:narrowMatch OMIM:608768 semapv:UnspecifiedMatching +GARD:4958 Spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch Orphanet:1185 semapv:UnspecifiedMatching +GARD:4958 Spinocerebellar ataxia-dysmorphism syndrome skos:narrowMatch OMIM:271270 semapv:UnspecifiedMatching +GARD:496 Acrofacial dysostosis, Rodríguez type skos:exactMatch Orphanet:1788 semapv:UnspecifiedMatching +GARD:496 Acrofacial dysostosis, Rodríguez type skos:narrowMatch OMIM:201170 semapv:UnspecifiedMatching +GARD:4963 Splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch Orphanet:2063 semapv:UnspecifiedMatching +GARD:4963 Splenogonadal fusion-limb defects-micrognathia syndrome skos:narrowMatch OMIM:183300 semapv:UnspecifiedMatching +GARD:4967 Karsch-Neugebauer syndrome skos:exactMatch Orphanet:2329 semapv:UnspecifiedMatching +GARD:4967 Karsch-Neugebauer syndrome skos:narrowMatch OMIM:183800 semapv:UnspecifiedMatching +GARD:4969 Czeizel-Losonci syndrome skos:exactMatch Orphanet:2437 semapv:UnspecifiedMatching +GARD:4969 Czeizel-Losonci syndrome skos:narrowMatch OMIM:183802 semapv:UnspecifiedMatching +GARD:497 Acrofacial dysostosis, Weyers type skos:exactMatch Orphanet:952 semapv:UnspecifiedMatching +GARD:497 Acrofacial dysostosis, Weyers type skos:narrowMatch OMIM:193530 semapv:UnspecifiedMatching +GARD:4970 SPONASTRIME dysplasia skos:exactMatch Orphanet:93357 semapv:UnspecifiedMatching +GARD:4970 SPONASTRIME dysplasia skos:narrowMatch OMIM:271510 semapv:UnspecifiedMatching +GARD:4972 Spondylocamptodactyly syndrome skos:exactMatch Orphanet:3180 semapv:UnspecifiedMatching +GARD:4972 Spondylocamptodactyly syndrome skos:narrowMatch OMIM:600000 semapv:UnspecifiedMatching +GARD:4973 Spondylocostal dysostosis 3, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +GARD:4973 Spondylocostal dysostosis 3, autosomal recessive skos:exactMatch OMIM:609813 semapv:UnspecifiedMatching +GARD:4974 Spondylocarpotarsal synostosis skos:exactMatch Orphanet:3275 semapv:UnspecifiedMatching +GARD:4974 Spondylocarpotarsal synostosis skos:narrowMatch OMIM:272460 semapv:UnspecifiedMatching +GARD:4976 Spondylocostal dysostosis 4, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +GARD:4976 Spondylocostal dysostosis 4, autosomal recessive skos:exactMatch OMIM:613686 semapv:UnspecifiedMatching +GARD:4977 Brachyolmia type 1, toledo type skos:broadMatch Orphanet:448242 semapv:UnspecifiedMatching +GARD:4977 Brachyolmia type 1, toledo type skos:exactMatch OMIM:271630 semapv:UnspecifiedMatching +GARD:4978 Spondyloenchondrodysplasia skos:exactMatch Orphanet:1855 semapv:UnspecifiedMatching +GARD:4979 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch Orphanet:93349 semapv:UnspecifiedMatching +GARD:4979 X-linked spondyloepimetaphyseal dysplasia skos:narrowMatch OMIM:300106 semapv:UnspecifiedMatching +GARD:498 Nager syndrome skos:exactMatch Orphanet:245 semapv:UnspecifiedMatching +GARD:498 Nager syndrome skos:narrowMatch OMIM:154400 semapv:UnspecifiedMatching +GARD:4980 Spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch Orphanet:93352 semapv:UnspecifiedMatching +GARD:4980 Spondyloepimetaphyseal dysplasia, Shohat type skos:narrowMatch OMIM:602557 semapv:UnspecifiedMatching +GARD:4982 Spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch Orphanet:93359 semapv:UnspecifiedMatching +GARD:4982 Spondyloepimetaphyseal dysplasia with joint laxity skos:narrowMatch OMIM:271640 semapv:UnspecifiedMatching +GARD:4982 Spondyloepimetaphyseal dysplasia with joint laxity skos:narrowMatch OMIM:618395 semapv:UnspecifiedMatching +GARD:4984 Schimke immuno-osseous dysplasia skos:exactMatch Orphanet:1830 semapv:UnspecifiedMatching +GARD:4984 Schimke immuno-osseous dysplasia skos:narrowMatch OMIM:242900 semapv:UnspecifiedMatching +GARD:4985 Spondyloepiphyseal dysplasia tarda, x-linked skos:broadMatch Orphanet:93284 semapv:UnspecifiedMatching +GARD:4985 Spondyloepiphyseal dysplasia tarda, x-linked skos:exactMatch OMIM:313400 semapv:UnspecifiedMatching +GARD:4987 Spondyloepiphyseal dysplasia congenita skos:exactMatch Orphanet:94068 semapv:UnspecifiedMatching +GARD:4987 Spondyloepiphyseal dysplasia congenita skos:narrowMatch OMIM:183900 semapv:UnspecifiedMatching +GARD:499 Acrofacial dysostosis, Palagonia type skos:exactMatch Orphanet:1787 semapv:UnspecifiedMatching +GARD:499 Acrofacial dysostosis, Palagonia type skos:narrowMatch OMIM:601829 semapv:UnspecifiedMatching +GARD:4991 Spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch Orphanet:93315 semapv:UnspecifiedMatching +GARD:4991 Spondylometaphyseal dysplasia, 'corner fracture' type skos:narrowMatch OMIM:184255 semapv:UnspecifiedMatching +GARD:4993 Spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch Orphanet:93317 semapv:UnspecifiedMatching +GARD:4993 Spondylometaphyseal dysplasia, Sedaghatian type skos:narrowMatch OMIM:250220 semapv:UnspecifiedMatching +GARD:4994 Spondyloperipheral dysplasia-short ulna syndrome skos:exactMatch Orphanet:1856 semapv:UnspecifiedMatching +GARD:4994 Spondyloperipheral dysplasia-short ulna syndrome skos:narrowMatch OMIM:271700 semapv:UnspecifiedMatching +GARD:4997 Familial spontaneous pneumothorax skos:exactMatch Orphanet:2903 semapv:UnspecifiedMatching +GARD:4997 Familial spontaneous pneumothorax skos:narrowMatch OMIM:173600 semapv:UnspecifiedMatching +GARD:5 Abetalipoproteinemia skos:exactMatch Orphanet:14 semapv:UnspecifiedMatching +GARD:5 Abetalipoproteinemia skos:narrowMatch OMIM:200100 semapv:UnspecifiedMatching +GARD:5 Abetalipoproteinemia skos:narrowMatch OMIM:605019 semapv:UnspecifiedMatching +GARD:5 Abetalipoproteinemia skos:narrowMatch OMIM:615558 semapv:UnspecifiedMatching +GARD:5003 Sebocystomatosis skos:exactMatch Orphanet:841 semapv:UnspecifiedMatching +GARD:5003 Sebocystomatosis skos:narrowMatch OMIM:184500 semapv:UnspecifiedMatching +GARD:5004 Steatocystoma multiplex-natal teeth syndrome skos:exactMatch Orphanet:3184 semapv:UnspecifiedMatching +GARD:5004 Steatocystoma multiplex-natal teeth syndrome skos:narrowMatch OMIM:184510 semapv:UnspecifiedMatching +GARD:5012 Sternal cleft skos:exactMatch Orphanet:2017 semapv:UnspecifiedMatching +GARD:5015 Steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch Orphanet:3196 semapv:UnspecifiedMatching +GARD:5018 Stickler syndrome type 1 skos:exactMatch Orphanet:90653 semapv:UnspecifiedMatching +GARD:5018 Stickler syndrome type 1 skos:narrowMatch OMIM:108300 semapv:UnspecifiedMatching +GARD:5018 Stickler syndrome type 1 skos:narrowMatch OMIM:609508 semapv:UnspecifiedMatching +GARD:5020 Stickler syndrome type 2 skos:exactMatch Orphanet:90654 semapv:UnspecifiedMatching +GARD:5020 Stickler syndrome type 2 skos:narrowMatch OMIM:604841 semapv:UnspecifiedMatching +GARD:5021 Autosomal dominant otospondylomegaepiphyseal dysplasia skos:exactMatch Orphanet:166100 semapv:UnspecifiedMatching +GARD:5021 Autosomal dominant otospondylomegaepiphyseal dysplasia skos:narrowMatch OMIM:184840 semapv:UnspecifiedMatching +GARD:5023 Stiff person spectrum disorder skos:exactMatch Orphanet:3198 semapv:UnspecifiedMatching +GARD:5023 Stiff person spectrum disorder skos:narrowMatch OMIM:184850 semapv:UnspecifiedMatching +GARD:5025 Stiff skin syndrome skos:exactMatch Orphanet:2833 semapv:UnspecifiedMatching +GARD:5025 Stiff skin syndrome skos:narrowMatch OMIM:184900 semapv:UnspecifiedMatching +GARD:5025 Stiff skin syndrome skos:narrowMatch OMIM:228020 semapv:UnspecifiedMatching +GARD:5026 Stimmler syndrome skos:exactMatch Orphanet:3199 semapv:UnspecifiedMatching +GARD:5026 Stimmler syndrome skos:narrowMatch OMIM:202900 semapv:UnspecifiedMatching +GARD:5027 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch Orphanet:2972 semapv:UnspecifiedMatching +GARD:5027 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:narrowMatch OMIM:273050 semapv:UnspecifiedMatching +GARD:5029 Arthrogryposis-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3200 semapv:UnspecifiedMatching +GARD:5029 Arthrogryposis-ectodermal dysplasia syndrome skos:narrowMatch OMIM:601701 semapv:UnspecifiedMatching +GARD:5034 Alpha delta granule deficiency skos:exactMatch Orphanet:734 semapv:UnspecifiedMatching +GARD:5034 Alpha delta granule deficiency skos:narrowMatch OMIM:185050 semapv:UnspecifiedMatching +GARD:5036 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:exactMatch Orphanet:1277 semapv:UnspecifiedMatching +GARD:504 Spondylometaphyseal dysplasia, Schmidt type skos:exactMatch Orphanet:93316 semapv:UnspecifiedMatching +GARD:504 Spondylometaphyseal dysplasia, Schmidt type skos:narrowMatch OMIM:184253 semapv:UnspecifiedMatching +GARD:5040 Infantile bilateral striatal necrosis skos:exactMatch Orphanet:1576 semapv:UnspecifiedMatching +GARD:5040 Infantile bilateral striatal necrosis skos:narrowMatch OMIM:271930 semapv:UnspecifiedMatching +GARD:5040 Infantile bilateral striatal necrosis skos:narrowMatch OMIM:500003 semapv:UnspecifiedMatching +GARD:5041 Autosomal dominant spastic paraplegia type 3 skos:exactMatch Orphanet:100984 semapv:UnspecifiedMatching +GARD:5041 Autosomal dominant spastic paraplegia type 3 skos:narrowMatch OMIM:182600 semapv:UnspecifiedMatching +GARD:5045 Stüve-Wiedemann syndrome skos:exactMatch Orphanet:3206 semapv:UnspecifiedMatching +GARD:5045 Stüve-Wiedemann syndrome skos:narrowMatch OMIM:601559 semapv:UnspecifiedMatching +GARD:5049 Classic lissencephaly skos:exactMatch Orphanet:102009 semapv:UnspecifiedMatching +GARD:5050 Subependymal nodular heterotopia skos:exactMatch Orphanet:101030 semapv:UnspecifiedMatching +GARD:5051 Subpulmonary stenosis skos:exactMatch Orphanet:3190 semapv:UnspecifiedMatching +GARD:5053 Isolated succinate-CoQ reductase deficiency skos:exactMatch Orphanet:3208 semapv:UnspecifiedMatching +GARD:5053 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:252011 semapv:UnspecifiedMatching +GARD:5053 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619166 semapv:UnspecifiedMatching +GARD:5053 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619167 semapv:UnspecifiedMatching +GARD:5053 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619224 semapv:UnspecifiedMatching +GARD:5058 Sugarman brachydactyly skos:exactMatch Orphanet:498602 semapv:UnspecifiedMatching +GARD:5058 Sugarman brachydactyly skos:narrowMatch OMIM:272150 semapv:UnspecifiedMatching +GARD:506 Acromesomelic dysplasia, Hunter-Thompson type skos:exactMatch Orphanet:968 semapv:UnspecifiedMatching +GARD:506 Acromesomelic dysplasia, Hunter-Thompson type skos:narrowMatch OMIM:201250 semapv:UnspecifiedMatching +GARD:5061 Multiple sulfatase deficiency skos:exactMatch Orphanet:585 semapv:UnspecifiedMatching +GARD:5061 Multiple sulfatase deficiency skos:narrowMatch OMIM:272200 semapv:UnspecifiedMatching +GARD:5062 Isolated sulfite oxidase deficiency skos:exactMatch Orphanet:99731 semapv:UnspecifiedMatching +GARD:5062 Isolated sulfite oxidase deficiency skos:narrowMatch OMIM:272300 semapv:UnspecifiedMatching +GARD:5066 Microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch Orphanet:85275 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:154230 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:233420 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:300018 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:400044 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:612965 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:613080 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:613762 semapv:UnspecifiedMatching +GARD:5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:616425 semapv:UnspecifiedMatching +GARD:507 Acromesomelic dysplasia, Maroteaux type skos:exactMatch Orphanet:40 semapv:UnspecifiedMatching +GARD:507 Acromesomelic dysplasia, Maroteaux type skos:narrowMatch OMIM:602875 semapv:UnspecifiedMatching +GARD:5070 Symmetrical thalamic calcifications skos:exactMatch Orphanet:1314 semapv:UnspecifiedMatching +GARD:5074 Distal symphalangism skos:exactMatch Orphanet:3248 semapv:UnspecifiedMatching +GARD:5074 Distal symphalangism skos:narrowMatch OMIM:185700 semapv:UnspecifiedMatching +GARD:5077 Symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 semapv:UnspecifiedMatching +GARD:5077 Symphalangism with multiple anomalies of hands and feet skos:narrowMatch OMIM:185750 semapv:UnspecifiedMatching +GARD:508 Hajdu-Cheney syndrome skos:exactMatch Orphanet:955 semapv:UnspecifiedMatching +GARD:508 Hajdu-Cheney syndrome skos:narrowMatch OMIM:102400 semapv:UnspecifiedMatching +GARD:508 Hajdu-Cheney syndrome skos:narrowMatch OMIM:102500 semapv:UnspecifiedMatching +GARD:5081 Syndactyly type 1 skos:exactMatch Orphanet:93402 semapv:UnspecifiedMatching +GARD:5081 Syndactyly type 1 skos:narrowMatch OMIM:185900 semapv:UnspecifiedMatching +GARD:5081 Syndactyly type 1 skos:narrowMatch OMIM:609815 semapv:UnspecifiedMatching +GARD:5084 Cenani-Lenz syndrome skos:exactMatch Orphanet:3258 semapv:UnspecifiedMatching +GARD:5084 Cenani-Lenz syndrome skos:narrowMatch OMIM:212780 semapv:UnspecifiedMatching +GARD:5087 Syndactyly type 2 skos:exactMatch Orphanet:93403 semapv:UnspecifiedMatching +GARD:5087 Syndactyly type 2 skos:narrowMatch OMIM:186000 semapv:UnspecifiedMatching +GARD:5087 Syndactyly type 2 skos:narrowMatch OMIM:608180 semapv:UnspecifiedMatching +GARD:5087 Syndactyly type 2 skos:narrowMatch OMIM:610234 semapv:UnspecifiedMatching +GARD:5088 Syndactyly type 3 skos:exactMatch Orphanet:93404 semapv:UnspecifiedMatching +GARD:5088 Syndactyly type 3 skos:narrowMatch OMIM:186100 semapv:UnspecifiedMatching +GARD:5089 Syndactyly type 5 skos:exactMatch Orphanet:93406 semapv:UnspecifiedMatching +GARD:5089 Syndactyly type 5 skos:narrowMatch OMIM:186300 semapv:UnspecifiedMatching +GARD:5090 Syndactyly-polydactyly-ear lobe syndrome skos:exactMatch Orphanet:3259 semapv:UnspecifiedMatching +GARD:5090 Syndactyly-polydactyly-ear lobe syndrome skos:narrowMatch OMIM:186350 semapv:UnspecifiedMatching +GARD:5091 Syngnathia-cleft palate syndrome skos:exactMatch Orphanet:3263 semapv:UnspecifiedMatching +GARD:5092 Dobrow syndrome skos:exactMatch Orphanet:3262 semapv:UnspecifiedMatching +GARD:5100 Syringocystadenoma papilliferum skos:exactMatch Orphanet:840 semapv:UnspecifiedMatching +GARD:5104 Systemic primary carnitine deficiency skos:exactMatch Orphanet:158 semapv:UnspecifiedMatching +GARD:5104 Systemic primary carnitine deficiency skos:narrowMatch OMIM:212140 semapv:UnspecifiedMatching +GARD:5116 Thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 semapv:UnspecifiedMatching +GARD:5116 Thrombocytopenia-absent radius syndrome skos:narrowMatch OMIM:274000 semapv:UnspecifiedMatching +GARD:512 Acropectorovertebral dysplasia skos:exactMatch Orphanet:957 semapv:UnspecifiedMatching +GARD:512 Acropectorovertebral dysplasia skos:narrowMatch OMIM:102510 semapv:UnspecifiedMatching +GARD:5120 Microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch Orphanet:2636 semapv:UnspecifiedMatching +GARD:5120 Microcephalic osteodysplastic primordial dwarfism types I and III skos:narrowMatch OMIM:210710 semapv:UnspecifiedMatching +GARD:5120 Microcephalic osteodysplastic primordial dwarfism types I and III skos:narrowMatch OMIM:210730 semapv:UnspecifiedMatching +GARD:5121 Otopalatodigital syndrome type 1 skos:exactMatch Orphanet:90650 semapv:UnspecifiedMatching +GARD:5121 Otopalatodigital syndrome type 1 skos:narrowMatch OMIM:311300 semapv:UnspecifiedMatching +GARD:5123 Anonychia-microcephaly syndrome skos:exactMatch Orphanet:1094 semapv:UnspecifiedMatching +GARD:5123 Anonychia-microcephaly syndrome skos:narrowMatch OMIM:607214 semapv:UnspecifiedMatching +GARD:5124 Autosomal recessive faciodigitogenital syndrome skos:exactMatch Orphanet:1974 semapv:UnspecifiedMatching +GARD:5124 Autosomal recessive faciodigitogenital syndrome skos:narrowMatch OMIM:227330 semapv:UnspecifiedMatching +GARD:5125 Teebi-Shaltout syndrome skos:exactMatch Orphanet:3291 semapv:UnspecifiedMatching +GARD:5125 Teebi-Shaltout syndrome skos:narrowMatch OMIM:272950 semapv:UnspecifiedMatching +GARD:5126 Trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch Orphanet:3368 semapv:UnspecifiedMatching +GARD:5126 Trigonocephaly-bifid nose-acral anomalies syndrome skos:narrowMatch OMIM:275595 semapv:UnspecifiedMatching +GARD:5128 Tel Hashomer camptodactyly syndrome skos:exactMatch Orphanet:3292 semapv:UnspecifiedMatching +GARD:5128 Tel Hashomer camptodactyly syndrome skos:narrowMatch OMIM:211960 semapv:UnspecifiedMatching +GARD:5133 Piebald trait-neurologic defects syndrome skos:exactMatch Orphanet:2885 semapv:UnspecifiedMatching +GARD:5133 Piebald trait-neurologic defects syndrome skos:narrowMatch OMIM:172850 semapv:UnspecifiedMatching +GARD:5135 Familial temporal lobe epilepsy skos:exactMatch Orphanet:98819 semapv:UnspecifiedMatching +GARD:5135 Familial temporal lobe epilepsy skos:narrowMatch OMIM:608096 semapv:UnspecifiedMatching +GARD:5135 Familial temporal lobe epilepsy skos:narrowMatch OMIM:611631 semapv:UnspecifiedMatching +GARD:5138 Frank-Ter Haar syndrome skos:exactMatch Orphanet:137834 semapv:UnspecifiedMatching +GARD:5138 Frank-Ter Haar syndrome skos:narrowMatch OMIM:249420 semapv:UnspecifiedMatching +GARD:514 Acrorenal syndrome skos:exactMatch Orphanet:971 semapv:UnspecifiedMatching +GARD:514 Acrorenal syndrome skos:narrowMatch OMIM:102520 semapv:UnspecifiedMatching +GARD:514 Acrorenal syndrome skos:narrowMatch OMIM:201310 semapv:UnspecifiedMatching +GARD:5140 Embryonal carcinoma skos:exactMatch Orphanet:180226 semapv:UnspecifiedMatching +GARD:5144 Tetanus skos:exactMatch Orphanet:3299 semapv:UnspecifiedMatching +GARD:5148 Tetra-amelia skos:exactMatch Orphanet:294971 semapv:UnspecifiedMatching +GARD:5151 Tetraploidy skos:exactMatch Orphanet:3305 semapv:UnspecifiedMatching +GARD:5153 Inverted duplicated chromosome 15 syndrome skos:exactMatch Orphanet:3306 semapv:UnspecifiedMatching +GARD:5158 Thakker-Donnai syndrome skos:exactMatch Orphanet:1780 semapv:UnspecifiedMatching +GARD:5158 Thakker-Donnai syndrome skos:narrowMatch OMIM:227255 semapv:UnspecifiedMatching +GARD:5170 Progressive deafness with stapes fixation skos:exactMatch Orphanet:3235 semapv:UnspecifiedMatching +GARD:5170 Progressive deafness with stapes fixation skos:narrowMatch OMIM:601449 semapv:UnspecifiedMatching +GARD:5175 Thomas syndrome skos:exactMatch Orphanet:3316 semapv:UnspecifiedMatching +GARD:5176 X-linked thrombocytopenia with normal platelets skos:exactMatch Orphanet:852 semapv:UnspecifiedMatching +GARD:5176 X-linked thrombocytopenia with normal platelets skos:narrowMatch OMIM:313900 semapv:UnspecifiedMatching +GARD:5177 Hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch Orphanet:2031 semapv:UnspecifiedMatching +GARD:5177 Hepatic fibrosis-renal cysts-intellectual disability syndrome skos:narrowMatch OMIM:213010 semapv:UnspecifiedMatching +GARD:5180 Thoracic dysplasia-hydrocephalus syndrome skos:exactMatch Orphanet:1861 semapv:UnspecifiedMatching +GARD:5180 Thoracic dysplasia-hydrocephalus syndrome skos:narrowMatch OMIM:273730 semapv:UnspecifiedMatching +GARD:5181 Thoraco-abdominal enteric duplication skos:exactMatch Orphanet:1759 semapv:UnspecifiedMatching +GARD:5184 Thoracolaryngopelvic dysplasia skos:exactMatch Orphanet:3317 semapv:UnspecifiedMatching +GARD:5184 Thoracolaryngopelvic dysplasia skos:narrowMatch OMIM:187760 semapv:UnspecifiedMatching +GARD:5184 Thoracolaryngopelvic dysplasia skos:narrowMatch OMIM:187770 semapv:UnspecifiedMatching +GARD:5186 KRT1-related diffuse nonepidermolytic keratoderma skos:exactMatch Orphanet:530838 semapv:UnspecifiedMatching +GARD:5186 KRT1-related diffuse nonepidermolytic keratoderma skos:narrowMatch OMIM:600962 semapv:UnspecifiedMatching +GARD:5188 Stormorken-Sjaastad-Langslet syndrome skos:exactMatch Orphanet:3204 semapv:UnspecifiedMatching +GARD:5188 Stormorken-Sjaastad-Langslet syndrome skos:narrowMatch OMIM:185070 semapv:UnspecifiedMatching +GARD:519 Idiopathic acute eosinophilic pneumonia skos:exactMatch Orphanet:724 semapv:UnspecifiedMatching +GARD:5191 Thrombocytopenia 2 skos:broadMatch Orphanet:168629 semapv:UnspecifiedMatching +GARD:5191 Thrombocytopenia 2 skos:exactMatch OMIM:188000 semapv:UnspecifiedMatching +GARD:5194 Immune thrombocytopenia skos:exactMatch Orphanet:3002 semapv:UnspecifiedMatching +GARD:5194 Immune thrombocytopenia skos:narrowMatch OMIM:188030 semapv:UnspecifiedMatching +GARD:5195 Familial thrombomodulin anomalies skos:exactMatch Orphanet:3324 semapv:UnspecifiedMatching +GARD:5199 Thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch Orphanet:2251 semapv:UnspecifiedMatching +GARD:5199 Thumb deformity-alopecia-pigmentation anomaly syndrome skos:narrowMatch OMIM:188150 semapv:UnspecifiedMatching +GARD:5201 Thymic epithelial neoplasm skos:exactMatch Orphanet:3398 semapv:UnspecifiedMatching +GARD:5202 Thymic-renal-anal-lung dysplasia skos:exactMatch Orphanet:3326 semapv:UnspecifiedMatching +GARD:5202 Thymic-renal-anal-lung dysplasia skos:narrowMatch OMIM:274265 semapv:UnspecifiedMatching +GARD:5204 Familial thyroglossal duct cyst skos:exactMatch Orphanet:93953 semapv:UnspecifiedMatching +GARD:5204 Familial thyroglossal duct cyst skos:narrowMatch OMIM:188455 semapv:UnspecifiedMatching +GARD:5206 Thyroid cancer, nonmedullary, 2 skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +GARD:5206 Thyroid cancer, nonmedullary, 2 skos:exactMatch OMIM:188470 semapv:UnspecifiedMatching +GARD:521 Sweet syndrome skos:exactMatch Orphanet:3243 semapv:UnspecifiedMatching +GARD:521 Sweet syndrome skos:narrowMatch OMIM:608068 semapv:UnspecifiedMatching +GARD:5210 Absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch Orphanet:3328 semapv:UnspecifiedMatching +GARD:5210 Absent tibia-polydactyly-arachnoid cyst syndrome skos:narrowMatch OMIM:601027 semapv:UnspecifiedMatching +GARD:5216 Tick-borne encephalitis skos:exactMatch Orphanet:297 semapv:UnspecifiedMatching +GARD:522 Acute lymphoblastic leukemia skos:exactMatch Orphanet:513 semapv:UnspecifiedMatching +GARD:522 Acute lymphoblastic leukemia skos:narrowMatch OMIM:247640 semapv:UnspecifiedMatching +GARD:522 Acute lymphoblastic leukemia skos:narrowMatch OMIM:613065 semapv:UnspecifiedMatching +GARD:522 Acute lymphoblastic leukemia skos:narrowMatch OMIM:613067 semapv:UnspecifiedMatching +GARD:5221 Hereditary neuropathy with liability to pressure palsies skos:exactMatch Orphanet:640 semapv:UnspecifiedMatching +GARD:5221 Hereditary neuropathy with liability to pressure palsies skos:narrowMatch OMIM:162500 semapv:UnspecifiedMatching +GARD:5225 Toriello-Carey syndrome skos:exactMatch Orphanet:3338 semapv:UnspecifiedMatching +GARD:5225 Toriello-Carey syndrome skos:narrowMatch OMIM:217980 semapv:UnspecifiedMatching +GARD:5230 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch Orphanet:3341 semapv:UnspecifiedMatching +GARD:5230 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:narrowMatch OMIM:314300 semapv:UnspecifiedMatching +GARD:5231 Skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:293165 semapv:UnspecifiedMatching +GARD:5231 Skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:narrowMatch OMIM:607655 semapv:UnspecifiedMatching +GARD:5232 Weismann-Netter syndrome skos:exactMatch Orphanet:3344 semapv:UnspecifiedMatching +GARD:5232 Weismann-Netter syndrome skos:narrowMatch OMIM:112350 semapv:UnspecifiedMatching +GARD:5233 Tracheal agenesis skos:exactMatch Orphanet:3346 semapv:UnspecifiedMatching +GARD:5235 Tracheobronchopathia osteochondroplastica skos:exactMatch Orphanet:3348 semapv:UnspecifiedMatching +GARD:5235 Tracheobronchopathia osteochondroplastica skos:narrowMatch OMIM:189961 semapv:UnspecifiedMatching +GARD:5237 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome skos:exactMatch Orphanet:293864 semapv:UnspecifiedMatching +GARD:5237 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome skos:narrowMatch OMIM:615710 semapv:UnspecifiedMatching +GARD:5238 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch Orphanet:3052 semapv:UnspecifiedMatching +GARD:5238 X-linked intellectual disability-seizures-psoriasis syndrome skos:narrowMatch OMIM:309480 semapv:UnspecifiedMatching +GARD:524 Acute megakaryoblastic leukemia skos:exactMatch Orphanet:518 semapv:UnspecifiedMatching +GARD:5243 Autosomal dominant optic atrophy plus syndrome skos:exactMatch Orphanet:1215 semapv:UnspecifiedMatching +GARD:5243 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:125250 semapv:UnspecifiedMatching +GARD:5243 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:165199 semapv:UnspecifiedMatching +GARD:5243 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:616648 semapv:UnspecifiedMatching +GARD:525 Acute monoblastic/monocytic leukemia skos:exactMatch Orphanet:514 semapv:UnspecifiedMatching +GARD:5250 Trichinellosis skos:exactMatch Orphanet:863 semapv:UnspecifiedMatching +GARD:5258 Syndromic diarrhea skos:exactMatch Orphanet:84064 semapv:UnspecifiedMatching +GARD:5258 Syndromic diarrhea skos:narrowMatch OMIM:222470 semapv:UnspecifiedMatching +GARD:5258 Syndromic diarrhea skos:narrowMatch OMIM:614602 semapv:UnspecifiedMatching +GARD:526 Acute myeloblastic leukemia without maturation skos:exactMatch Orphanet:98833 semapv:UnspecifiedMatching +GARD:5261 Trichodysplasia-xeroderma syndrome skos:exactMatch Orphanet:3361 semapv:UnspecifiedMatching +GARD:5261 Trichodysplasia-xeroderma syndrome skos:narrowMatch OMIM:190360 semapv:UnspecifiedMatching +GARD:5263 Trichofolliculoma skos:exactMatch Orphanet:864 semapv:UnspecifiedMatching +GARD:5266 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch Orphanet:3363 semapv:UnspecifiedMatching +GARD:5266 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:narrowMatch OMIM:275400 semapv:UnspecifiedMatching +GARD:5267 Trichoodontoonychial dysplasia skos:exactMatch Orphanet:3355 semapv:UnspecifiedMatching +GARD:5267 Trichoodontoonychial dysplasia skos:narrowMatch OMIM:275450 semapv:UnspecifiedMatching +GARD:527 Acute myeloblastic leukemia with maturation skos:exactMatch Orphanet:98834 semapv:UnspecifiedMatching +GARD:5270 Trichothiodystrophy 1, photosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +GARD:5270 Trichothiodystrophy 1, photosensitive skos:exactMatch OMIM:601675 semapv:UnspecifiedMatching +GARD:5271 Trichothiodystrophy 4, nonphotosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +GARD:5271 Trichothiodystrophy 4, nonphotosensitive skos:exactMatch OMIM:234050 semapv:UnspecifiedMatching +GARD:5274 Tricuspid atresia skos:exactMatch Orphanet:1209 semapv:UnspecifiedMatching +GARD:5274 Tricuspid atresia skos:narrowMatch OMIM:605067 semapv:UnspecifiedMatching +GARD:5279 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch Orphanet:2995 semapv:UnspecifiedMatching +GARD:5279 Baraitser-Winter cerebrofrontofacial syndrome skos:narrowMatch OMIM:243310 semapv:UnspecifiedMatching +GARD:5279 Baraitser-Winter cerebrofrontofacial syndrome skos:narrowMatch OMIM:614583 semapv:UnspecifiedMatching +GARD:5286 Triopia skos:exactMatch Orphanet:3374 semapv:UnspecifiedMatching +GARD:5287 Triose phosphate-isomerase deficiency skos:exactMatch Orphanet:868 semapv:UnspecifiedMatching +GARD:5287 Triose phosphate-isomerase deficiency skos:narrowMatch OMIM:615512 semapv:UnspecifiedMatching +GARD:5289 Polydactyly of a triphalangeal thumb skos:exactMatch Orphanet:93336 semapv:UnspecifiedMatching +GARD:5289 Polydactyly of a triphalangeal thumb skos:narrowMatch OMIM:174500 semapv:UnspecifiedMatching +GARD:529 Acute myelomonocytic leukemia skos:exactMatch Orphanet:517 semapv:UnspecifiedMatching +GARD:5290 Triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch Orphanet:2947 semapv:UnspecifiedMatching +GARD:5290 Triphalangeal thumbs-brachyectrodactyly syndrome skos:narrowMatch OMIM:190680 semapv:UnspecifiedMatching +GARD:5295 Triploidy skos:exactMatch Orphanet:3376 semapv:UnspecifiedMatching +GARD:5299 Trisomy 10p skos:exactMatch Orphanet:171929 semapv:UnspecifiedMatching +GARD:5304 Mosaic trisomy 12 skos:exactMatch Orphanet:1698 semapv:UnspecifiedMatching +GARD:5305 Trisomy 12p skos:exactMatch Orphanet:1699 semapv:UnspecifiedMatching +GARD:5313 Mosaic trisomy 15 skos:exactMatch Orphanet:1706 semapv:UnspecifiedMatching +GARD:5317 Mosaic trisomy 17 skos:exactMatch Orphanet:1711 semapv:UnspecifiedMatching +GARD:5318 Trisomy 17p skos:exactMatch Orphanet:261290 semapv:UnspecifiedMatching +GARD:5323 Trisomy 18p skos:exactMatch Orphanet:1715 semapv:UnspecifiedMatching +GARD:5331 Mosaic trisomy 2 skos:exactMatch Orphanet:1723 semapv:UnspecifiedMatching +GARD:5333 Trisomy 20p skos:exactMatch Orphanet:261318 semapv:UnspecifiedMatching +GARD:5342 Mosaic trisomy 3 skos:exactMatch Orphanet:100071 semapv:UnspecifiedMatching +GARD:5354 Mosaic trisomy 7 skos:exactMatch Orphanet:1747 semapv:UnspecifiedMatching +GARD:5359 Mosaic trisomy 8 skos:exactMatch Orphanet:96061 semapv:UnspecifiedMatching +GARD:536 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch Orphanet:98829 semapv:UnspecifiedMatching +GARD:5362 Trisomy 8q skos:exactMatch Orphanet:1752 semapv:UnspecifiedMatching +GARD:5372 Autosomal recessive spastic paraplegia type 20 skos:exactMatch Orphanet:101000 semapv:UnspecifiedMatching +GARD:5372 Autosomal recessive spastic paraplegia type 20 skos:narrowMatch OMIM:275900 semapv:UnspecifiedMatching +GARD:538 Acute promyelocytic leukemia skos:exactMatch Orphanet:520 semapv:UnspecifiedMatching +GARD:538 Acute promyelocytic leukemia skos:narrowMatch OMIM:612376 semapv:UnspecifiedMatching +GARD:5388 Transient tyrosinemia of the newborn skos:exactMatch Orphanet:3402 semapv:UnspecifiedMatching +GARD:5392 Galactose epimerase deficiency skos:exactMatch Orphanet:79238 semapv:UnspecifiedMatching +GARD:5392 Galactose epimerase deficiency skos:narrowMatch OMIM:230350 semapv:UnspecifiedMatching +GARD:5393 Uhl anomaly skos:exactMatch Orphanet:3403 semapv:UnspecifiedMatching +GARD:5393 Uhl anomaly skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +GARD:5394 Ulbright-Hodes syndrome skos:exactMatch Orphanet:3404 semapv:UnspecifiedMatching +GARD:5394 Ulbright-Hodes syndrome skos:narrowMatch OMIM:266910 semapv:UnspecifiedMatching +GARD:5395 Ulerythema ophryogenesis skos:exactMatch Orphanet:3406 semapv:UnspecifiedMatching +GARD:5395 Ulerythema ophryogenesis skos:narrowMatch OMIM:604093 semapv:UnspecifiedMatching +GARD:5398 Ulna hypoplasia-intellectual disability syndrome skos:exactMatch Orphanet:2249 semapv:UnspecifiedMatching +GARD:5398 Ulna hypoplasia-intellectual disability syndrome skos:narrowMatch OMIM:276821 semapv:UnspecifiedMatching +GARD:54 Duodenal atresia skos:exactMatch Orphanet:1203 semapv:UnspecifiedMatching +GARD:54 Duodenal atresia skos:narrowMatch OMIM:223400 semapv:UnspecifiedMatching +GARD:540 Medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:42 semapv:UnspecifiedMatching +GARD:540 Medium chain acyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:201450 semapv:UnspecifiedMatching +GARD:5400 Ulnar hypoplasia-split foot syndrome skos:exactMatch Orphanet:1122 semapv:UnspecifiedMatching +GARD:5400 Ulnar hypoplasia-split foot syndrome skos:narrowMatch OMIM:314360 semapv:UnspecifiedMatching +GARD:5403 Umbilical cord ulceration-intestinal atresia syndrome skos:exactMatch Orphanet:3405 semapv:UnspecifiedMatching +GARD:5404 Uncombable hair syndrome skos:exactMatch Orphanet:1410 semapv:UnspecifiedMatching +GARD:5404 Uncombable hair syndrome skos:narrowMatch OMIM:191480 semapv:UnspecifiedMatching +GARD:5404 Uncombable hair syndrome skos:narrowMatch OMIM:617251 semapv:UnspecifiedMatching +GARD:5404 Uncombable hair syndrome skos:narrowMatch OMIM:617252 semapv:UnspecifiedMatching +GARD:5408 17q11 microdeletion syndrome skos:exactMatch Orphanet:97685 semapv:UnspecifiedMatching +GARD:5408 17q11 microdeletion syndrome skos:narrowMatch OMIM:613675 semapv:UnspecifiedMatching +GARD:5409 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96334 semapv:UnspecifiedMatching +GARD:5409 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 skos:narrowMatch OMIM:608149 semapv:UnspecifiedMatching +GARD:5421 Upington disease skos:exactMatch Orphanet:3408 semapv:UnspecifiedMatching +GARD:5421 Upington disease skos:narrowMatch OMIM:191520 semapv:UnspecifiedMatching +GARD:5425 Urachal cyst skos:exactMatch Orphanet:488 semapv:UnspecifiedMatching +GARD:5426 Urban-Rogers-Meyer syndrome skos:exactMatch Orphanet:3409 semapv:UnspecifiedMatching +GARD:5426 Urban-Rogers-Meyer syndrome skos:narrowMatch OMIM:264010 semapv:UnspecifiedMatching +GARD:5427 Hereditary mucoepithelial dysplasia skos:exactMatch Orphanet:1839 semapv:UnspecifiedMatching +GARD:5427 Hereditary mucoepithelial dysplasia skos:narrowMatch OMIM:158310 semapv:UnspecifiedMatching +GARD:5429 Hereditary orotic aciduria skos:exactMatch Orphanet:30 semapv:UnspecifiedMatching +GARD:5429 Hereditary orotic aciduria skos:narrowMatch OMIM:258900 semapv:UnspecifiedMatching +GARD:5430 Müllerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch Orphanet:1655 semapv:UnspecifiedMatching +GARD:5430 Müllerian derivatives-lymphangiectasia-polydactyly syndrome skos:narrowMatch OMIM:235255 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:exactMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:276900 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:276904 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:601067 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:602083 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:602097 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:606943 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:612632 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:614869 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:614990 semapv:UnspecifiedMatching +GARD:5435 Usher syndrome type 1 skos:narrowMatch OMIM:618632 semapv:UnspecifiedMatching +GARD:5436 Usher syndrome, type i skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:5436 Usher syndrome, type i skos:exactMatch OMIM:276900 semapv:UnspecifiedMatching +GARD:5437 Usher syndrome, type ic skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:5437 Usher syndrome, type ic skos:exactMatch OMIM:276904 semapv:UnspecifiedMatching +GARD:5438 Usher syndrome, type id skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:5438 Usher syndrome, type id skos:exactMatch OMIM:601067 semapv:UnspecifiedMatching +GARD:5439 Usher syndrome, type ie skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +GARD:5439 Usher syndrome, type ie skos:exactMatch OMIM:602097 semapv:UnspecifiedMatching +GARD:5440 Usher syndrome type 2 skos:exactMatch Orphanet:231178 semapv:UnspecifiedMatching +GARD:5440 Usher syndrome type 2 skos:narrowMatch OMIM:276901 semapv:UnspecifiedMatching +GARD:5440 Usher syndrome type 2 skos:narrowMatch OMIM:605472 semapv:UnspecifiedMatching +GARD:5440 Usher syndrome type 2 skos:narrowMatch OMIM:611383 semapv:UnspecifiedMatching +GARD:5442 Usher syndrome type 3 skos:exactMatch Orphanet:231183 semapv:UnspecifiedMatching +GARD:5442 Usher syndrome type 3 skos:narrowMatch OMIM:276902 semapv:UnspecifiedMatching +GARD:5442 Usher syndrome type 3 skos:narrowMatch OMIM:500004 semapv:UnspecifiedMatching +GARD:5442 Usher syndrome type 3 skos:narrowMatch OMIM:614504 semapv:UnspecifiedMatching +GARD:5443 VACTERL/VATER association skos:exactMatch Orphanet:887 semapv:UnspecifiedMatching +GARD:5443 VACTERL/VATER association skos:narrowMatch OMIM:192350 semapv:UnspecifiedMatching +GARD:5445 Mayer-Rokitansky-Küster-Hauser syndrome skos:exactMatch Orphanet:3109 semapv:UnspecifiedMatching +GARD:5445 Mayer-Rokitansky-Küster-Hauser syndrome skos:narrowMatch OMIM:277000 semapv:UnspecifiedMatching +GARD:5445 Mayer-Rokitansky-Küster-Hauser syndrome skos:narrowMatch OMIM:601076 semapv:UnspecifiedMatching +GARD:5447 Fetal valproate spectrum disorder skos:exactMatch Orphanet:1906 semapv:UnspecifiedMatching +GARD:5447 Fetal valproate spectrum disorder skos:narrowMatch OMIM:609442 semapv:UnspecifiedMatching +GARD:5453 Van den Bosch syndrome skos:exactMatch Orphanet:3417 semapv:UnspecifiedMatching +GARD:5453 Van den Bosch syndrome skos:narrowMatch OMIM:314500 semapv:UnspecifiedMatching +GARD:5456 Cerebrofacioarticular syndrome skos:exactMatch Orphanet:314679 semapv:UnspecifiedMatching +GARD:5456 Cerebrofacioarticular syndrome skos:narrowMatch OMIM:601390 semapv:UnspecifiedMatching +GARD:5456 Cerebrofacioarticular syndrome skos:narrowMatch OMIM:615546 semapv:UnspecifiedMatching +GARD:546 Adenine phosphoribosyltransferase deficiency skos:exactMatch Orphanet:976 semapv:UnspecifiedMatching +GARD:546 Adenine phosphoribosyltransferase deficiency skos:narrowMatch OMIM:614723 semapv:UnspecifiedMatching +GARD:5461 Congenital bilateral absence of vas deferens skos:exactMatch Orphanet:48 semapv:UnspecifiedMatching +GARD:5461 Congenital bilateral absence of vas deferens skos:narrowMatch OMIM:277180 semapv:UnspecifiedMatching +GARD:5461 Congenital bilateral absence of vas deferens skos:narrowMatch OMIM:300985 semapv:UnspecifiedMatching +GARD:5467 Vein of Galen aneurysmal malformation skos:exactMatch Orphanet:1053 semapv:UnspecifiedMatching +GARD:5467 Vein of Galen aneurysmal malformation skos:narrowMatch OMIM:618196 semapv:UnspecifiedMatching +GARD:5469 Velo-facial-skeletal syndrome skos:exactMatch Orphanet:3424 semapv:UnspecifiedMatching +GARD:5469 Velo-facial-skeletal syndrome skos:narrowMatch OMIM:600736 semapv:UnspecifiedMatching +GARD:547 Adenosine monophosphate deaminase deficiency skos:exactMatch Orphanet:45 semapv:UnspecifiedMatching +GARD:547 Adenosine monophosphate deaminase deficiency skos:narrowMatch OMIM:612874 semapv:UnspecifiedMatching +GARD:547 Adenosine monophosphate deaminase deficiency skos:narrowMatch OMIM:615511 semapv:UnspecifiedMatching +GARD:5470 Congenital velopharyngeal incompetence skos:exactMatch Orphanet:2291 semapv:UnspecifiedMatching +GARD:5470 Congenital velopharyngeal incompetence skos:narrowMatch OMIM:167500 semapv:UnspecifiedMatching +GARD:5472 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome skos:exactMatch Orphanet:3201 semapv:UnspecifiedMatching +GARD:5472 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome skos:narrowMatch OMIM:192445 semapv:UnspecifiedMatching +GARD:5476 Congenitally uncorrected transposition of the great arteries skos:exactMatch Orphanet:860 semapv:UnspecifiedMatching +GARD:5476 Congenitally uncorrected transposition of the great arteries skos:narrowMatch OMIM:608808 semapv:UnspecifiedMatching +GARD:5476 Congenitally uncorrected transposition of the great arteries skos:narrowMatch OMIM:613854 semapv:UnspecifiedMatching +GARD:5478 Brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:2899 semapv:UnspecifiedMatching +GARD:5478 Brachyolmia-amelogenesis imperfecta syndrome skos:narrowMatch OMIM:601216 semapv:UnspecifiedMatching +GARD:5481 Microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch Orphanet:2551 semapv:UnspecifiedMatching +GARD:5481 Microspherophakia-metaphyseal dysplasia syndrome skos:narrowMatch OMIM:157151 semapv:UnspecifiedMatching +GARD:5482 Verloove Vanhorick-Brubakk syndrome skos:exactMatch Orphanet:3429 semapv:UnspecifiedMatching +GARD:5482 Verloove Vanhorick-Brubakk syndrome skos:narrowMatch OMIM:215850 semapv:UnspecifiedMatching +GARD:5484 Inflammatory linear verrucous epidermal nevus skos:exactMatch Orphanet:79466 semapv:UnspecifiedMatching +GARD:5485 Acanthokeratolytic verrucous nevus skos:exactMatch Orphanet:79468 semapv:UnspecifiedMatching +GARD:5488 Congenital vertical talus skos:exactMatch Orphanet:178382 semapv:UnspecifiedMatching +GARD:5488 Congenital vertical talus skos:narrowMatch OMIM:192950 semapv:UnspecifiedMatching +GARD:5490 Microcephaly-brachydactyly-kyphoscoliosis syndrome skos:exactMatch Orphanet:3433 semapv:UnspecifiedMatching +GARD:5494 Viral hemorrhagic fever skos:exactMatch Orphanet:341 semapv:UnspecifiedMatching +GARD:5495 Malignant Sertoli-Leydig cell tumor of the ovary skos:exactMatch Orphanet:99916 semapv:UnspecifiedMatching +GARD:5496 Oculogastrointestinal muscular dystrophy skos:exactMatch Orphanet:1876 semapv:UnspecifiedMatching +GARD:5496 Oculogastrointestinal muscular dystrophy skos:narrowMatch OMIM:277320 semapv:UnspecifiedMatching +GARD:550 Adenylosuccinate lyase deficiency skos:exactMatch Orphanet:46 semapv:UnspecifiedMatching +GARD:550 Adenylosuccinate lyase deficiency skos:narrowMatch OMIM:103050 semapv:UnspecifiedMatching +GARD:5500 Vitamin B12-responsive methylmalonic acidemia type cblA skos:exactMatch Orphanet:79310 semapv:UnspecifiedMatching +GARD:5500 Vitamin B12-responsive methylmalonic acidemia type cblA skos:narrowMatch OMIM:251100 semapv:UnspecifiedMatching +GARD:5507 Autosomal dominant vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 semapv:UnspecifiedMatching +GARD:5507 Autosomal dominant vitreoretinochoroidopathy skos:narrowMatch OMIM:193220 semapv:UnspecifiedMatching +GARD:5508 Very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26793 semapv:UnspecifiedMatching +GARD:5508 Very long chain acyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:201475 semapv:UnspecifiedMatching +GARD:5509 Laryngeal abductor paralysis skos:exactMatch Orphanet:2808 semapv:UnspecifiedMatching +GARD:5509 Laryngeal abductor paralysis skos:narrowMatch OMIM:150260 semapv:UnspecifiedMatching +GARD:5513 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch Orphanet:2578 semapv:UnspecifiedMatching +GARD:5513 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:narrowMatch OMIM:601076 semapv:UnspecifiedMatching +GARD:5518 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch Orphanet:2180 semapv:UnspecifiedMatching +GARD:5518 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:narrowMatch OMIM:600991 semapv:UnspecifiedMatching +GARD:5519 Waardenburg syndrome type 1 skos:exactMatch Orphanet:894 semapv:UnspecifiedMatching +GARD:5519 Waardenburg syndrome type 1 skos:narrowMatch OMIM:193500 semapv:UnspecifiedMatching +GARD:5520 Waardenburg syndrome type 2 skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching +GARD:5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:193510 semapv:UnspecifiedMatching +GARD:5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:600193 semapv:UnspecifiedMatching +GARD:5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:606662 semapv:UnspecifiedMatching +GARD:5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:608890 semapv:UnspecifiedMatching +GARD:5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:611584 semapv:UnspecifiedMatching +GARD:5522 Waardenburg syndrome, type 2b skos:broadMatch Orphanet:895 semapv:UnspecifiedMatching +GARD:5522 Waardenburg syndrome, type 2b skos:exactMatch OMIM:600193 semapv:UnspecifiedMatching +GARD:5523 Waardenburg syndrome type 3 skos:exactMatch Orphanet:896 semapv:UnspecifiedMatching +GARD:5523 Waardenburg syndrome type 3 skos:narrowMatch OMIM:148820 semapv:UnspecifiedMatching +GARD:5524 Waardenburg-Shah syndrome skos:exactMatch Orphanet:897 semapv:UnspecifiedMatching +GARD:5524 Waardenburg-Shah syndrome skos:narrowMatch OMIM:277580 semapv:UnspecifiedMatching +GARD:5524 Waardenburg-Shah syndrome skos:narrowMatch OMIM:613265 semapv:UnspecifiedMatching +GARD:5524 Waardenburg-Shah syndrome skos:narrowMatch OMIM:613266 semapv:UnspecifiedMatching +GARD:5525 Waardenburg syndrome skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +GARD:5525 Waardenburg syndrome skos:narrowMatch OMIM:148820 semapv:UnspecifiedMatching +GARD:5525 Waardenburg syndrome skos:narrowMatch OMIM:193500 semapv:UnspecifiedMatching +GARD:5525 Waardenburg syndrome skos:narrowMatch OMIM:193510 semapv:UnspecifiedMatching +GARD:5525 Waardenburg syndrome skos:narrowMatch OMIM:600193 semapv:UnspecifiedMatching +GARD:5525 Waardenburg syndrome skos:narrowMatch OMIM:606662 semapv:UnspecifiedMatching +GARD:5525 Waardenburg syndrome skos:narrowMatch OMIM:608890 semapv:UnspecifiedMatching +GARD:5525 Waardenburg syndrome skos:narrowMatch OMIM:611584 semapv:UnspecifiedMatching +GARD:5528 WAGR syndrome skos:exactMatch Orphanet:893 semapv:UnspecifiedMatching +GARD:5528 WAGR syndrome skos:narrowMatch OMIM:194072 semapv:UnspecifiedMatching +GARD:5528 WAGR syndrome skos:narrowMatch OMIM:612469 semapv:UnspecifiedMatching +GARD:5530 Aniridia-intellectual disability syndrome skos:exactMatch Orphanet:1068 semapv:UnspecifiedMatching +GARD:5532 Cleidorhizomelic syndrome skos:exactMatch Orphanet:1453 semapv:UnspecifiedMatching +GARD:5532 Cleidorhizomelic syndrome skos:narrowMatch OMIM:119650 semapv:UnspecifiedMatching +GARD:5534 Micro syndrome skos:exactMatch Orphanet:2510 semapv:UnspecifiedMatching +GARD:5534 Micro syndrome skos:narrowMatch OMIM:600118 semapv:UnspecifiedMatching +GARD:5534 Micro syndrome skos:narrowMatch OMIM:614222 semapv:UnspecifiedMatching +GARD:5534 Micro syndrome skos:narrowMatch OMIM:614225 semapv:UnspecifiedMatching +GARD:5534 Micro syndrome skos:narrowMatch OMIM:615663 semapv:UnspecifiedMatching +GARD:5535 Deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch Orphanet:3214 semapv:UnspecifiedMatching +GARD:5535 Deaf blind hypopigmentation syndrome, Yemenite type skos:narrowMatch OMIM:601706 semapv:UnspecifiedMatching +GARD:5538 Craniosynostosis, Boston type skos:exactMatch Orphanet:1541 semapv:UnspecifiedMatching +GARD:5538 Craniosynostosis, Boston type skos:narrowMatch OMIM:604757 semapv:UnspecifiedMatching +GARD:5539 Acromelic frontonasal dysplasia skos:exactMatch Orphanet:1827 semapv:UnspecifiedMatching +GARD:5539 Acromelic frontonasal dysplasia skos:narrowMatch OMIM:603671 semapv:UnspecifiedMatching +GARD:5545 Weaver-Williams syndrome skos:exactMatch Orphanet:3448 semapv:UnspecifiedMatching +GARD:555 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:95702 semapv:UnspecifiedMatching +GARD:555 X-linked adrenal hypoplasia congenita skos:narrowMatch OMIM:202155 semapv:UnspecifiedMatching +GARD:555 X-linked adrenal hypoplasia congenita skos:narrowMatch OMIM:300200 semapv:UnspecifiedMatching +GARD:5552 Distal myopathy, Welander type skos:exactMatch Orphanet:603 semapv:UnspecifiedMatching +GARD:5552 Distal myopathy, Welander type skos:narrowMatch OMIM:604454 semapv:UnspecifiedMatching +GARD:5554 Cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch Orphanet:1373 semapv:UnspecifiedMatching +GARD:5554 Cataract-aberrant oral frenula-growth delay syndrome skos:narrowMatch OMIM:115645 semapv:UnspecifiedMatching +GARD:5555 Spastic paraparesis-deafness syndrome skos:exactMatch Orphanet:2815 semapv:UnspecifiedMatching +GARD:5555 Spastic paraparesis-deafness syndrome skos:narrowMatch OMIM:312910 semapv:UnspecifiedMatching +GARD:5560 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:exactMatch Orphanet:3207 semapv:UnspecifiedMatching +GARD:5562 Osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:exactMatch Orphanet:2779 semapv:UnspecifiedMatching +GARD:5565 Wiedemann-Steiner syndrome skos:exactMatch Orphanet:319182 semapv:UnspecifiedMatching +GARD:5565 Wiedemann-Steiner syndrome skos:narrowMatch OMIM:605130 semapv:UnspecifiedMatching +GARD:5569 Wildervanck syndrome skos:exactMatch Orphanet:3456 semapv:UnspecifiedMatching +GARD:5569 Wildervanck syndrome skos:narrowMatch OMIM:314600 semapv:UnspecifiedMatching +GARD:5573 Acquired von Willebrand syndrome skos:exactMatch Orphanet:99147 semapv:UnspecifiedMatching +GARD:5575 Prader-Willi syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching +GARD:5575 Prader-Willi syndrome skos:narrowMatch OMIM:176270 semapv:UnspecifiedMatching +GARD:5575 Prader-Willi syndrome skos:narrowMatch OMIM:615547 semapv:UnspecifiedMatching +GARD:5576 Denys-Drash syndrome skos:exactMatch Orphanet:220 semapv:UnspecifiedMatching +GARD:5576 Denys-Drash syndrome skos:narrowMatch OMIM:194080 semapv:UnspecifiedMatching +GARD:5579 Wilson-Turner syndrome skos:exactMatch Orphanet:3459 semapv:UnspecifiedMatching +GARD:5579 Wilson-Turner syndrome skos:narrowMatch OMIM:309585 semapv:UnspecifiedMatching +GARD:558 Adrenocortical carcinoma skos:exactMatch Orphanet:1501 semapv:UnspecifiedMatching +GARD:558 Adrenocortical carcinoma skos:narrowMatch OMIM:202300 semapv:UnspecifiedMatching +GARD:5584 Curry-Jones syndrome skos:exactMatch Orphanet:1553 semapv:UnspecifiedMatching +GARD:5584 Curry-Jones syndrome skos:narrowMatch OMIM:601707 semapv:UnspecifiedMatching +GARD:5587 Hypodontia-dysplasia of nails syndrome skos:exactMatch Orphanet:2228 semapv:UnspecifiedMatching +GARD:5587 Hypodontia-dysplasia of nails syndrome skos:narrowMatch OMIM:189500 semapv:UnspecifiedMatching +GARD:5589 Wolcott-Rallison syndrome skos:exactMatch Orphanet:1667 semapv:UnspecifiedMatching +GARD:5589 Wolcott-Rallison syndrome skos:narrowMatch OMIM:226980 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:exactMatch Orphanet:44 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:202370 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:266510 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:601539 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614863 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614867 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614871 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614873 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614877 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614885 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614920 semapv:UnspecifiedMatching +GARD:559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:617370 semapv:UnspecifiedMatching +GARD:5592 Woodhouse-Sakati syndrome skos:exactMatch Orphanet:3464 semapv:UnspecifiedMatching +GARD:5592 Woodhouse-Sakati syndrome skos:narrowMatch OMIM:241080 semapv:UnspecifiedMatching +GARD:5593 Intrauterine growth retardation with increased mitomycin c sensitivity skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +GARD:5593 Intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch OMIM:600546 semapv:UnspecifiedMatching +GARD:5595 Carvajal syndrome skos:exactMatch Orphanet:65282 semapv:UnspecifiedMatching +GARD:5595 Carvajal syndrome skos:narrowMatch OMIM:605676 semapv:UnspecifiedMatching +GARD:5595 Carvajal syndrome skos:narrowMatch OMIM:615821 semapv:UnspecifiedMatching +GARD:5597 Woolly hair skos:exactMatch Orphanet:170 semapv:UnspecifiedMatching +GARD:5597 Woolly hair skos:narrowMatch OMIM:194300 semapv:UnspecifiedMatching +GARD:5597 Woolly hair skos:narrowMatch OMIM:278150 semapv:UnspecifiedMatching +GARD:5597 Woolly hair skos:narrowMatch OMIM:604379 semapv:UnspecifiedMatching +GARD:5597 Woolly hair skos:narrowMatch OMIM:615896 semapv:UnspecifiedMatching +GARD:5597 Woolly hair skos:narrowMatch OMIM:616760 semapv:UnspecifiedMatching +GARD:5598 Worster-Drought syndrome skos:exactMatch Orphanet:3465 semapv:UnspecifiedMatching +GARD:5598 Worster-Drought syndrome skos:narrowMatch OMIM:185480 semapv:UnspecifiedMatching +GARD:5611 Severe X-linked intellectual disability, Gustavson type skos:exactMatch Orphanet:3078 semapv:UnspecifiedMatching +GARD:5611 Severe X-linked intellectual disability, Gustavson type skos:narrowMatch OMIM:309555 semapv:UnspecifiedMatching +GARD:5613 Intellectual developmental disorder, x-linked 63 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:5613 Intellectual developmental disorder, x-linked 63 skos:exactMatch OMIM:300387 semapv:UnspecifiedMatching +GARD:5614 Intellectual developmental disorder, x-linked 29 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:5614 Intellectual developmental disorder, x-linked 29 skos:exactMatch OMIM:300419 semapv:UnspecifiedMatching +GARD:5615 X-linked intellectual disability, Snyder type skos:exactMatch Orphanet:3063 semapv:UnspecifiedMatching +GARD:5615 X-linked intellectual disability, Snyder type skos:narrowMatch OMIM:309583 semapv:UnspecifiedMatching +GARD:5617 Allan-Herndon-Dudley syndrome skos:exactMatch Orphanet:59 semapv:UnspecifiedMatching +GARD:5617 Allan-Herndon-Dudley syndrome skos:narrowMatch OMIM:300523 semapv:UnspecifiedMatching +GARD:5618 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch Orphanet:276 semapv:UnspecifiedMatching +GARD:5618 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:narrowMatch OMIM:300400 semapv:UnspecifiedMatching +GARD:562 Adrenomyodystrophy skos:exactMatch Orphanet:977 semapv:UnspecifiedMatching +GARD:562 Adrenomyodystrophy skos:narrowMatch OMIM:300270 semapv:UnspecifiedMatching +GARD:5620 Xanthinuria type II skos:exactMatch Orphanet:93602 semapv:UnspecifiedMatching +GARD:5620 Xanthinuria type II skos:narrowMatch OMIM:603592 semapv:UnspecifiedMatching +GARD:5621 Xanthinuria type I skos:exactMatch Orphanet:93601 semapv:UnspecifiedMatching +GARD:5621 Xanthinuria type I skos:narrowMatch OMIM:278300 semapv:UnspecifiedMatching +GARD:5622 Cerebrotendinous xanthomatosis skos:exactMatch Orphanet:909 semapv:UnspecifiedMatching +GARD:5622 Cerebrotendinous xanthomatosis skos:narrowMatch OMIM:213700 semapv:UnspecifiedMatching +GARD:5623 Dehydrated hereditary stomatocytosis skos:exactMatch Orphanet:3202 semapv:UnspecifiedMatching +GARD:5623 Dehydrated hereditary stomatocytosis skos:narrowMatch OMIM:194380 semapv:UnspecifiedMatching +GARD:5623 Dehydrated hereditary stomatocytosis skos:narrowMatch OMIM:616689 semapv:UnspecifiedMatching +GARD:5624 Xeroderma pigmentosum, complementation group a skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +GARD:5624 Xeroderma pigmentosum, complementation group a skos:exactMatch OMIM:278700 semapv:UnspecifiedMatching +GARD:5625 Xeroderma pigmentosum, complementation group b skos:broadMatch Orphanet:220295 semapv:UnspecifiedMatching +GARD:5625 Xeroderma pigmentosum, complementation group b skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +GARD:5625 Xeroderma pigmentosum, complementation group b skos:exactMatch OMIM:610651 semapv:UnspecifiedMatching +GARD:5626 Xeroderma pigmentosum, complementation group c skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +GARD:5626 Xeroderma pigmentosum, complementation group c skos:exactMatch OMIM:278720 semapv:UnspecifiedMatching +GARD:5627 Xeroderma pigmentosum, complementation group e skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +GARD:5627 Xeroderma pigmentosum, complementation group e skos:exactMatch OMIM:278740 semapv:UnspecifiedMatching +GARD:5628 Xeroderma pigmentosum, complementation group f skos:broadMatch Orphanet:220295 semapv:UnspecifiedMatching +GARD:5628 Xeroderma pigmentosum, complementation group f skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +GARD:5628 Xeroderma pigmentosum, complementation group f skos:exactMatch OMIM:278760 semapv:UnspecifiedMatching +GARD:5629 Xeroderma pigmentosum, complementation group g skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +GARD:5629 Xeroderma pigmentosum, complementation group g skos:broadMatch Orphanet:220295 semapv:UnspecifiedMatching +GARD:5629 Xeroderma pigmentosum, complementation group g skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +GARD:5629 Xeroderma pigmentosum, complementation group g skos:exactMatch OMIM:278780 semapv:UnspecifiedMatching +GARD:5630 Xeroderma pigmentosum variant skos:exactMatch Orphanet:90342 semapv:UnspecifiedMatching +GARD:5630 Xeroderma pigmentosum variant skos:narrowMatch OMIM:278750 semapv:UnspecifiedMatching +GARD:564 Proximal spinal muscular atrophy type 4 skos:exactMatch Orphanet:83420 semapv:UnspecifiedMatching +GARD:564 Proximal spinal muscular atrophy type 4 skos:narrowMatch OMIM:271150 semapv:UnspecifiedMatching +GARD:5642 Aase-Smith syndrome skos:exactMatch Orphanet:916 semapv:UnspecifiedMatching +GARD:5642 Aase-Smith syndrome skos:narrowMatch OMIM:147800 semapv:UnspecifiedMatching +GARD:5643 Dentatorubral pallidoluysian atrophy skos:exactMatch Orphanet:101 semapv:UnspecifiedMatching +GARD:5643 Dentatorubral pallidoluysian atrophy skos:narrowMatch OMIM:125370 semapv:UnspecifiedMatching +GARD:5644 Cardiomyopathy, dilated, 1e skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +GARD:5644 Cardiomyopathy, dilated, 1e skos:exactMatch OMIM:601154 semapv:UnspecifiedMatching +GARD:5648 Photosensitive epilepsy skos:exactMatch Orphanet:166409 semapv:UnspecifiedMatching +GARD:5648 Photosensitive epilepsy skos:narrowMatch OMIM:132100 semapv:UnspecifiedMatching +GARD:5648 Photosensitive epilepsy skos:narrowMatch OMIM:609572 semapv:UnspecifiedMatching +GARD:5648 Photosensitive epilepsy skos:narrowMatch OMIM:609573 semapv:UnspecifiedMatching +GARD:5653 Gliosarcoma skos:exactMatch Orphanet:251576 semapv:UnspecifiedMatching +GARD:5654 Alveolar soft tissue sarcoma skos:exactMatch Orphanet:163699 semapv:UnspecifiedMatching +GARD:5654 Alveolar soft tissue sarcoma skos:narrowMatch OMIM:606243 semapv:UnspecifiedMatching +GARD:5657 PFAPA syndrome skos:exactMatch Orphanet:42642 semapv:UnspecifiedMatching +GARD:5658 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch Orphanet:90795 semapv:UnspecifiedMatching +GARD:5658 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:narrowMatch OMIM:202010 semapv:UnspecifiedMatching +GARD:5659 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 semapv:UnspecifiedMatching +GARD:5659 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:narrowMatch OMIM:264300 semapv:UnspecifiedMatching +GARD:5661 D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79315 semapv:UnspecifiedMatching +GARD:5661 D-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:600721 semapv:UnspecifiedMatching +GARD:5661 D-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:613657 semapv:UnspecifiedMatching +GARD:5662 3-hydroxyisobutyric aciduria skos:exactMatch Orphanet:939 semapv:UnspecifiedMatching +GARD:5662 3-hydroxyisobutyric aciduria skos:narrowMatch OMIM:236795 semapv:UnspecifiedMatching +GARD:5663 3-methylglutaconic aciduria type 3 skos:exactMatch Orphanet:67047 semapv:UnspecifiedMatching +GARD:5663 3-methylglutaconic aciduria type 3 skos:narrowMatch OMIM:258501 semapv:UnspecifiedMatching +GARD:5665 3-methylcrotonyl-coa carboxylase 1 deficiency skos:broadMatch Orphanet:6 semapv:UnspecifiedMatching +GARD:5665 3-methylcrotonyl-coa carboxylase 1 deficiency skos:exactMatch OMIM:210200 semapv:UnspecifiedMatching +GARD:5666 3C syndrome skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching +GARD:5666 3C syndrome skos:narrowMatch OMIM:220210 semapv:UnspecifiedMatching +GARD:5666 3C syndrome skos:narrowMatch OMIM:300963 semapv:UnspecifiedMatching +GARD:5666 3C syndrome skos:narrowMatch OMIM:619135 semapv:UnspecifiedMatching +GARD:5667 3M syndrome skos:exactMatch Orphanet:2616 semapv:UnspecifiedMatching +GARD:5667 3M syndrome skos:narrowMatch OMIM:273750 semapv:UnspecifiedMatching +GARD:5667 3M syndrome skos:narrowMatch OMIM:612921 semapv:UnspecifiedMatching +GARD:5667 3M syndrome skos:narrowMatch OMIM:614205 semapv:UnspecifiedMatching +GARD:5668 Hawkinsinuria skos:exactMatch Orphanet:2118 semapv:UnspecifiedMatching +GARD:5668 Hawkinsinuria skos:narrowMatch OMIM:140350 semapv:UnspecifiedMatching +GARD:5671 46,XX gonadal dysgenesis skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching +GARD:5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:233300 semapv:UnspecifiedMatching +GARD:5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:300510 semapv:UnspecifiedMatching +GARD:5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:614324 semapv:UnspecifiedMatching +GARD:5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:618078 semapv:UnspecifiedMatching +GARD:5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:618117 semapv:UnspecifiedMatching +GARD:5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:618723 semapv:UnspecifiedMatching +GARD:5672 Trisomy X skos:exactMatch Orphanet:3375 semapv:UnspecifiedMatching +GARD:5674 47,XYY syndrome skos:exactMatch Orphanet:8 semapv:UnspecifiedMatching +GARD:5676 48,XXXY syndrome skos:exactMatch Orphanet:96263 semapv:UnspecifiedMatching +GARD:5677 48,XXYY syndrome skos:exactMatch Orphanet:10 semapv:UnspecifiedMatching +GARD:5678 Pentasomy X skos:exactMatch Orphanet:11 semapv:UnspecifiedMatching +GARD:5679 49,XXXXY syndrome skos:exactMatch Orphanet:96264 semapv:UnspecifiedMatching +GARD:5680 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch Orphanet:753 semapv:UnspecifiedMatching +GARD:5680 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:narrowMatch OMIM:264600 semapv:UnspecifiedMatching +GARD:5681 5-oxoprolinase deficiency skos:exactMatch Orphanet:33572 semapv:UnspecifiedMatching +GARD:5681 5-oxoprolinase deficiency skos:narrowMatch OMIM:260005 semapv:UnspecifiedMatching +GARD:5682 6-pyruvoyl-tetrahydropterin synthase deficiency skos:exactMatch Orphanet:13 semapv:UnspecifiedMatching +GARD:5682 6-pyruvoyl-tetrahydropterin synthase deficiency skos:narrowMatch OMIM:261640 semapv:UnspecifiedMatching +GARD:5683 Smith-Lemli-Opitz syndrome skos:exactMatch Orphanet:818 semapv:UnspecifiedMatching +GARD:5683 Smith-Lemli-Opitz syndrome skos:narrowMatch OMIM:270400 semapv:UnspecifiedMatching +GARD:5686 Glycogen storage disease due to muscle phosphofructokinase deficiency skos:exactMatch Orphanet:371 semapv:UnspecifiedMatching +GARD:5686 Glycogen storage disease due to muscle phosphofructokinase deficiency skos:narrowMatch OMIM:232800 semapv:UnspecifiedMatching +GARD:5688 Temtamy syndrome skos:exactMatch Orphanet:1777 semapv:UnspecifiedMatching +GARD:5688 Temtamy syndrome skos:narrowMatch OMIM:218340 semapv:UnspecifiedMatching +GARD:5691 Refsum disease skos:exactMatch Orphanet:773 semapv:UnspecifiedMatching +GARD:5691 Refsum disease skos:narrowMatch OMIM:266500 semapv:UnspecifiedMatching +GARD:5691 Refsum disease skos:narrowMatch OMIM:614879 semapv:UnspecifiedMatching +GARD:5692 Partial androgen insensitivity syndrome skos:exactMatch Orphanet:90797 semapv:UnspecifiedMatching +GARD:5692 Partial androgen insensitivity syndrome skos:narrowMatch OMIM:312300 semapv:UnspecifiedMatching +GARD:5693 Reactive arthritis skos:exactMatch Orphanet:29207 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:180100 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:180104 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:180105 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:180210 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:268000 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:268025 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:268060 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:300029 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:300155 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:300424 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:300605 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:312600 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:312612 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:400004 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:600059 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:600105 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:600132 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:600138 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:600852 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:601414 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:601718 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:602594 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:602772 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:604232 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:604393 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:606068 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:607921 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:608133 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:608380 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:609913 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:609923 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:610282 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:610359 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:610599 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:611131 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:612095 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:612165 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:612572 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:612712 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:612943 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613194 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613341 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613428 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613464 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613575 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613581 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613582 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613617 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613660 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613731 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613750 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613756 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613758 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613767 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613769 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613794 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613801 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613809 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613810 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613827 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613861 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613862 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:613983 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:614180 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:614181 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:614494 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:614500 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:615233 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:615434 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:615565 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:615725 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:615780 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:615922 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:616188 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:616394 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:616469 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:616544 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:616562 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:617023 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:617123 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:617304 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:617433 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:617460 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:617781 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:618173 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:618195 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:618220 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:618345 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:618613 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:618697 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:618826 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:618955 semapv:UnspecifiedMatching +GARD:5694 Retinitis pigmentosa skos:narrowMatch OMIM:619007 semapv:UnspecifiedMatching +GARD:5695 Retinopathy of prematurity skos:exactMatch Orphanet:90050 semapv:UnspecifiedMatching +GARD:5695 Retinopathy of prematurity skos:narrowMatch OMIM:133780 semapv:UnspecifiedMatching +GARD:5696 Rett syndrome skos:exactMatch Orphanet:778 semapv:UnspecifiedMatching +GARD:5696 Rett syndrome skos:narrowMatch OMIM:312750 semapv:UnspecifiedMatching +GARD:5697 Fibrosclerosis, multifocal skos:broadMatch Orphanet:49041 semapv:UnspecifiedMatching +GARD:5697 Fibrosclerosis, multifocal skos:exactMatch OMIM:228800 semapv:UnspecifiedMatching +GARD:5699 Rheumatic fever skos:exactMatch Orphanet:3099 semapv:UnspecifiedMatching +GARD:5699 Rheumatic fever skos:narrowMatch OMIM:268240 semapv:UnspecifiedMatching +GARD:5701 Axenfeld-Rieger syndrome skos:exactMatch Orphanet:782 semapv:UnspecifiedMatching +GARD:5701 Axenfeld-Rieger syndrome skos:narrowMatch OMIM:180500 semapv:UnspecifiedMatching +GARD:5701 Axenfeld-Rieger syndrome skos:narrowMatch OMIM:601499 semapv:UnspecifiedMatching +GARD:5701 Axenfeld-Rieger syndrome skos:narrowMatch OMIM:602482 semapv:UnspecifiedMatching +GARD:5708 Idiopathic achalasia skos:exactMatch Orphanet:930 semapv:UnspecifiedMatching +GARD:5708 Idiopathic achalasia skos:narrowMatch OMIM:200400 semapv:UnspecifiedMatching +GARD:5714 Glycogen storage disease due to acid maltase deficiency skos:exactMatch Orphanet:365 semapv:UnspecifiedMatching +GARD:5714 Glycogen storage disease due to acid maltase deficiency skos:narrowMatch OMIM:232300 semapv:UnspecifiedMatching +GARD:5721 Acrocallosal syndrome skos:exactMatch Orphanet:36 semapv:UnspecifiedMatching +GARD:5721 Acrocallosal syndrome skos:narrowMatch OMIM:200990 semapv:UnspecifiedMatching +GARD:5723 Acrodermatitis enteropathica skos:exactMatch Orphanet:37 semapv:UnspecifiedMatching +GARD:5723 Acrodermatitis enteropathica skos:narrowMatch OMIM:201100 semapv:UnspecifiedMatching +GARD:5724 Acrodysostosis skos:exactMatch Orphanet:950 semapv:UnspecifiedMatching +GARD:5724 Acrodysostosis skos:narrowMatch OMIM:101800 semapv:UnspecifiedMatching +GARD:5724 Acrodysostosis skos:narrowMatch OMIM:614613 semapv:UnspecifiedMatching +GARD:5725 Acromegaly skos:exactMatch Orphanet:963 semapv:UnspecifiedMatching +GARD:5725 Acromegaly skos:narrowMatch OMIM:102200 semapv:UnspecifiedMatching +GARD:5725 Acromegaly skos:narrowMatch OMIM:300943 semapv:UnspecifiedMatching +GARD:5727 Congenital isolated ACTH deficiency skos:exactMatch Orphanet:199296 semapv:UnspecifiedMatching +GARD:5727 Congenital isolated ACTH deficiency skos:narrowMatch OMIM:201400 semapv:UnspecifiedMatching +GARD:5728 Actinomycosis skos:exactMatch Orphanet:457095 semapv:UnspecifiedMatching +GARD:5732 Acute intermittent porphyria skos:exactMatch Orphanet:79276 semapv:UnspecifiedMatching +GARD:5732 Acute intermittent porphyria skos:narrowMatch OMIM:176000 semapv:UnspecifiedMatching +GARD:5739 Adams-Oliver syndrome skos:exactMatch Orphanet:974 semapv:UnspecifiedMatching +GARD:5739 Adams-Oliver syndrome skos:narrowMatch OMIM:100300 semapv:UnspecifiedMatching +GARD:5739 Adams-Oliver syndrome skos:narrowMatch OMIM:614219 semapv:UnspecifiedMatching +GARD:5739 Adams-Oliver syndrome skos:narrowMatch OMIM:614814 semapv:UnspecifiedMatching +GARD:5739 Adams-Oliver syndrome skos:narrowMatch OMIM:615297 semapv:UnspecifiedMatching +GARD:5739 Adams-Oliver syndrome skos:narrowMatch OMIM:616028 semapv:UnspecifiedMatching +GARD:5739 Adams-Oliver syndrome skos:narrowMatch OMIM:616589 semapv:UnspecifiedMatching +GARD:5740 Addison disease skos:exactMatch Orphanet:85138 semapv:UnspecifiedMatching +GARD:5740 Addison disease skos:narrowMatch OMIM:103230 semapv:UnspecifiedMatching +GARD:5740 Addison disease skos:narrowMatch OMIM:240200 semapv:UnspecifiedMatching +GARD:5747 Ameloblastoma skos:exactMatch Orphanet:314419 semapv:UnspecifiedMatching +GARD:5748 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 semapv:UnspecifiedMatching +GARD:5748 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:narrowMatch OMIM:102700 semapv:UnspecifiedMatching +GARD:5749 Holmes-Adie syndrome skos:exactMatch Orphanet:454718 semapv:UnspecifiedMatching +GARD:5749 Holmes-Adie syndrome skos:narrowMatch OMIM:103100 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:exactMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:114100 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:225750 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610181 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610329 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610333 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:612952 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:615010 semapv:UnspecifiedMatching +GARD:575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:615846 semapv:UnspecifiedMatching +GARD:5750 Adiposis dolorosa skos:exactMatch Orphanet:36397 semapv:UnspecifiedMatching +GARD:5750 Adiposis dolorosa skos:narrowMatch OMIM:103200 semapv:UnspecifiedMatching +GARD:5758 X-linked adrenoleukodystrophy skos:exactMatch Orphanet:43 semapv:UnspecifiedMatching +GARD:5758 X-linked adrenoleukodystrophy skos:narrowMatch OMIM:300100 semapv:UnspecifiedMatching +GARD:5758 X-linked adrenoleukodystrophy skos:narrowMatch OMIM:302700 semapv:UnspecifiedMatching +GARD:5761 Familial afibrinogenemia skos:exactMatch Orphanet:98880 semapv:UnspecifiedMatching +GARD:5761 Familial afibrinogenemia skos:narrowMatch OMIM:202400 semapv:UnspecifiedMatching +GARD:5764 Aicardi syndrome skos:exactMatch Orphanet:50 semapv:UnspecifiedMatching +GARD:5764 Aicardi syndrome skos:narrowMatch OMIM:304050 semapv:UnspecifiedMatching +GARD:5770 Pseudohypoparathyroidism with Albright hereditary osteodystrophy skos:exactMatch Orphanet:457059 semapv:UnspecifiedMatching +GARD:5774 Alexander disease skos:exactMatch Orphanet:58 semapv:UnspecifiedMatching +GARD:5774 Alexander disease skos:narrowMatch OMIM:203450 semapv:UnspecifiedMatching +GARD:5775 Alkaptonuria skos:exactMatch Orphanet:56 semapv:UnspecifiedMatching +GARD:5775 Alkaptonuria skos:narrowMatch OMIM:203500 semapv:UnspecifiedMatching +GARD:5783 Alpers-Huttenlocher syndrome skos:exactMatch Orphanet:726 semapv:UnspecifiedMatching +GARD:5783 Alpers-Huttenlocher syndrome skos:narrowMatch OMIM:203700 semapv:UnspecifiedMatching +GARD:5784 Alpha-1-antitrypsin deficiency skos:exactMatch Orphanet:60 semapv:UnspecifiedMatching +GARD:5784 Alpha-1-antitrypsin deficiency skos:narrowMatch OMIM:613490 semapv:UnspecifiedMatching +GARD:5785 Alport syndrome skos:exactMatch Orphanet:63 semapv:UnspecifiedMatching +GARD:5785 Alport syndrome skos:narrowMatch OMIM:104200 semapv:UnspecifiedMatching +GARD:5785 Alport syndrome skos:narrowMatch OMIM:203780 semapv:UnspecifiedMatching +GARD:5785 Alport syndrome skos:narrowMatch OMIM:301050 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:105400 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:205250 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:300857 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:600795 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:606070 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:606640 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608030 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608031 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608627 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:611895 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:612069 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:612577 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:613435 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:613954 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:614808 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:615426 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:615515 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:616208 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:616437 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:617839 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:617892 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:619133 semapv:UnspecifiedMatching +GARD:5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:619141 semapv:UnspecifiedMatching +GARD:5787 Alström syndrome skos:exactMatch Orphanet:64 semapv:UnspecifiedMatching +GARD:5787 Alström syndrome skos:narrowMatch OMIM:203800 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:exactMatch Orphanet:88661 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:104500 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:104510 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:104530 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:130900 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:204650 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:204700 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:301200 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:301201 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:612529 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:613211 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:614832 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:615887 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:616221 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:616270 semapv:UnspecifiedMatching +GARD:5791 Amelogenesis imperfecta skos:narrowMatch OMIM:617217 semapv:UnspecifiedMatching +GARD:5797 AL amyloidosis skos:exactMatch Orphanet:85443 semapv:UnspecifiedMatching +GARD:5797 AL amyloidosis skos:narrowMatch OMIM:254500 semapv:UnspecifiedMatching +GARD:5802 Otopalatodigital syndrome type 2 skos:exactMatch Orphanet:90652 semapv:UnspecifiedMatching +GARD:5802 Otopalatodigital syndrome type 2 skos:narrowMatch OMIM:304120 semapv:UnspecifiedMatching +GARD:5803 Androgen insensitivity syndrome skos:exactMatch Orphanet:754 semapv:UnspecifiedMatching +GARD:5808 Isolated anencephaly/exencephaly skos:exactMatch Orphanet:1048 semapv:UnspecifiedMatching +GARD:5808 Isolated anencephaly/exencephaly skos:narrowMatch OMIM:206500 semapv:UnspecifiedMatching +GARD:5810 Angelman syndrome skos:exactMatch Orphanet:72 semapv:UnspecifiedMatching +GARD:5810 Angelman syndrome skos:narrowMatch OMIM:105830 semapv:UnspecifiedMatching +GARD:5816 Isolated aniridia skos:exactMatch Orphanet:250923 semapv:UnspecifiedMatching +GARD:5816 Isolated aniridia skos:narrowMatch OMIM:106210 semapv:UnspecifiedMatching +GARD:5816 Isolated aniridia skos:narrowMatch OMIM:617141 semapv:UnspecifiedMatching +GARD:5816 Isolated aniridia skos:narrowMatch OMIM:617142 semapv:UnspecifiedMatching +GARD:5818 Anodontia skos:exactMatch Orphanet:99797 semapv:UnspecifiedMatching +GARD:5818 Anodontia skos:narrowMatch OMIM:206780 semapv:UnspecifiedMatching +GARD:5819 Testicular agenesis skos:exactMatch Orphanet:325124 semapv:UnspecifiedMatching +GARD:5824 Antiphospholipid syndrome skos:exactMatch Orphanet:80 semapv:UnspecifiedMatching +GARD:5826 Antley-Bixler syndrome skos:exactMatch Orphanet:83 semapv:UnspecifiedMatching +GARD:5826 Antley-Bixler syndrome skos:narrowMatch OMIM:207410 semapv:UnspecifiedMatching +GARD:5828 Aorta coarctation skos:exactMatch Orphanet:1457 semapv:UnspecifiedMatching +GARD:5828 Aorta coarctation skos:narrowMatch OMIM:120000 semapv:UnspecifiedMatching +GARD:583 Short stature-webbed neck-heart disease syndrome skos:exactMatch Orphanet:2865 semapv:UnspecifiedMatching +GARD:5833 Apert syndrome skos:exactMatch Orphanet:87 semapv:UnspecifiedMatching +GARD:5833 Apert syndrome skos:narrowMatch OMIM:101200 semapv:UnspecifiedMatching +GARD:5835 Aplasia cutis congenita skos:exactMatch Orphanet:1114 semapv:UnspecifiedMatching +GARD:5835 Aplasia cutis congenita skos:narrowMatch OMIM:107600 semapv:UnspecifiedMatching +GARD:5835 Aplasia cutis congenita skos:narrowMatch OMIM:600360 semapv:UnspecifiedMatching +GARD:5836 Idiopathic aplastic anemia skos:exactMatch Orphanet:88 semapv:UnspecifiedMatching +GARD:5836 Idiopathic aplastic anemia skos:narrowMatch OMIM:609135 semapv:UnspecifiedMatching +GARD:5836 Idiopathic aplastic anemia skos:narrowMatch OMIM:614742 semapv:UnspecifiedMatching +GARD:5836 Idiopathic aplastic anemia skos:narrowMatch OMIM:614743 semapv:UnspecifiedMatching +GARD:5839 Arachnoiditis skos:exactMatch Orphanet:137817 semapv:UnspecifiedMatching +GARD:5839 Arachnoiditis skos:narrowMatch OMIM:182950 semapv:UnspecifiedMatching +GARD:584 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch Orphanet:2153 semapv:UnspecifiedMatching +GARD:584 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:narrowMatch OMIM:235760 semapv:UnspecifiedMatching +GARD:5840 Argininemia skos:exactMatch Orphanet:90 semapv:UnspecifiedMatching +GARD:5840 Argininemia skos:narrowMatch OMIM:207800 semapv:UnspecifiedMatching +GARD:5843 Argininosuccinic aciduria skos:exactMatch Orphanet:23 semapv:UnspecifiedMatching +GARD:5843 Argininosuccinic aciduria skos:narrowMatch OMIM:207900 semapv:UnspecifiedMatching +GARD:5847 Arrhythmogenic right ventricular cardiomyopathy skos:exactMatch Orphanet:247 semapv:UnspecifiedMatching +GARD:5852 Asbestos intoxication skos:exactMatch Orphanet:2302 semapv:UnspecifiedMatching +GARD:5853 Asherman syndrome skos:exactMatch Orphanet:137686 semapv:UnspecifiedMatching +GARD:5854 Aspartylglucosaminuria skos:exactMatch Orphanet:93 semapv:UnspecifiedMatching +GARD:5854 Aspartylglucosaminuria skos:narrowMatch OMIM:208400 semapv:UnspecifiedMatching +GARD:5856 Aspergillosis skos:exactMatch Orphanet:1163 semapv:UnspecifiedMatching +GARD:5856 Aspergillosis skos:narrowMatch OMIM:614079 semapv:UnspecifiedMatching +GARD:5860 Anaplastic astrocytoma skos:exactMatch Orphanet:251589 semapv:UnspecifiedMatching +GARD:5862 Ataxia-telangiectasia skos:exactMatch Orphanet:100 semapv:UnspecifiedMatching +GARD:5862 Ataxia-telangiectasia skos:narrowMatch OMIM:208900 semapv:UnspecifiedMatching +GARD:5862 Ataxia-telangiectasia skos:narrowMatch OMIM:208910 semapv:UnspecifiedMatching +GARD:5864 Alpha-thalassemia-X-linked intellectual disability syndrome skos:exactMatch Orphanet:847 semapv:UnspecifiedMatching +GARD:5864 Alpha-thalassemia-X-linked intellectual disability syndrome skos:narrowMatch OMIM:301040 semapv:UnspecifiedMatching +GARD:5864 Alpha-thalassemia-X-linked intellectual disability syndrome skos:narrowMatch OMIM:309580 semapv:UnspecifiedMatching +GARD:5865 Atrial septal defect, ostium secundum type skos:exactMatch Orphanet:99103 semapv:UnspecifiedMatching +GARD:5865 Atrial septal defect, ostium secundum type skos:narrowMatch OMIM:611363 semapv:UnspecifiedMatching +GARD:5865 Atrial septal defect, ostium secundum type skos:narrowMatch OMIM:614089 semapv:UnspecifiedMatching +GARD:5865 Atrial septal defect, ostium secundum type skos:narrowMatch OMIM:614430 semapv:UnspecifiedMatching +GARD:5867 Localized lipodystrophy skos:exactMatch Orphanet:79088 semapv:UnspecifiedMatching +GARD:587 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:exactMatch Orphanet:2773 semapv:UnspecifiedMatching +GARD:5870 Autoimmune hemolytic anemia skos:exactMatch Orphanet:98375 semapv:UnspecifiedMatching +GARD:5871 Autoimmune hepatitis skos:exactMatch Orphanet:2137 semapv:UnspecifiedMatching +GARD:5878 Babesiosis skos:exactMatch Orphanet:108 semapv:UnspecifiedMatching +GARD:588 Alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch Orphanet:2007 semapv:UnspecifiedMatching +GARD:588 Alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:narrowMatch OMIM:203000 semapv:UnspecifiedMatching +GARD:5885 Baló concentric sclerosis skos:exactMatch Orphanet:228165 semapv:UnspecifiedMatching +GARD:5887 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch Orphanet:109 semapv:UnspecifiedMatching +GARD:5887 Bannayan-Riley-Ruvalcaba syndrome skos:narrowMatch OMIM:158350 semapv:UnspecifiedMatching +GARD:589 Albinism-deafness syndrome skos:exactMatch Orphanet:998 semapv:UnspecifiedMatching +GARD:589 Albinism-deafness syndrome skos:narrowMatch OMIM:300700 semapv:UnspecifiedMatching +GARD:5890 Barth syndrome skos:exactMatch Orphanet:111 semapv:UnspecifiedMatching +GARD:5890 Barth syndrome skos:narrowMatch OMIM:302060 semapv:UnspecifiedMatching +GARD:5893 Bartter syndrome skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching +GARD:5893 Bartter syndrome skos:narrowMatch OMIM:241200 semapv:UnspecifiedMatching +GARD:5893 Bartter syndrome skos:narrowMatch OMIM:300971 semapv:UnspecifiedMatching +GARD:5893 Bartter syndrome skos:narrowMatch OMIM:601198 semapv:UnspecifiedMatching +GARD:5893 Bartter syndrome skos:narrowMatch OMIM:601678 semapv:UnspecifiedMatching +GARD:5893 Bartter syndrome skos:narrowMatch OMIM:602522 semapv:UnspecifiedMatching +GARD:5893 Bartter syndrome skos:narrowMatch OMIM:607364 semapv:UnspecifiedMatching +GARD:5893 Bartter syndrome skos:narrowMatch OMIM:613090 semapv:UnspecifiedMatching +GARD:5897 CLN3 disease skos:exactMatch Orphanet:228346 semapv:UnspecifiedMatching +GARD:5897 CLN3 disease skos:narrowMatch OMIM:204200 semapv:UnspecifiedMatching +GARD:5898 Congenital myopathy skos:exactMatch Orphanet:97245 semapv:UnspecifiedMatching +GARD:5899 Congenital contractural arachnodactyly skos:exactMatch Orphanet:115 semapv:UnspecifiedMatching +GARD:5899 Congenital contractural arachnodactyly skos:narrowMatch OMIM:121050 semapv:UnspecifiedMatching +GARD:59 Spinocerebellar ataxia type 34 skos:exactMatch Orphanet:1955 semapv:UnspecifiedMatching +GARD:59 Spinocerebellar ataxia type 34 skos:narrowMatch OMIM:133190 semapv:UnspecifiedMatching +GARD:5900 Becker muscular dystrophy skos:exactMatch Orphanet:98895 semapv:UnspecifiedMatching +GARD:5900 Becker muscular dystrophy skos:narrowMatch OMIM:159050 semapv:UnspecifiedMatching +GARD:5900 Becker muscular dystrophy skos:narrowMatch OMIM:300376 semapv:UnspecifiedMatching +GARD:5907 Diffuse astrocytoma skos:exactMatch Orphanet:251595 semapv:UnspecifiedMatching +GARD:5913 Mucous membrane pemphigoid skos:exactMatch Orphanet:46486 semapv:UnspecifiedMatching +GARD:5913 Mucous membrane pemphigoid skos:narrowMatch OMIM:164185 semapv:UnspecifiedMatching +GARD:592 Ocular albinism with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 semapv:UnspecifiedMatching +GARD:592 Ocular albinism with late-onset sensorineural deafness skos:narrowMatch OMIM:300650 semapv:UnspecifiedMatching +GARD:5926 Birdshot chorioretinopathy skos:exactMatch Orphanet:179 semapv:UnspecifiedMatching +GARD:5926 Birdshot chorioretinopathy skos:narrowMatch OMIM:605808 semapv:UnspecifiedMatching +GARD:5939 Blue diaper syndrome skos:exactMatch Orphanet:94086 semapv:UnspecifiedMatching +GARD:5939 Blue diaper syndrome skos:narrowMatch OMIM:211000 semapv:UnspecifiedMatching +GARD:594 Oculocutaneous albinism type 1B skos:exactMatch Orphanet:79434 semapv:UnspecifiedMatching +GARD:594 Oculocutaneous albinism type 1B skos:narrowMatch OMIM:606952 semapv:UnspecifiedMatching +GARD:5940 Blue rubber bleb nevus skos:exactMatch Orphanet:1059 semapv:UnspecifiedMatching +GARD:5940 Blue rubber bleb nevus skos:narrowMatch OMIM:112200 semapv:UnspecifiedMatching +GARD:5950 Bowen-Conradi syndrome skos:exactMatch Orphanet:1270 semapv:UnspecifiedMatching +GARD:5950 Bowen-Conradi syndrome skos:narrowMatch OMIM:211180 semapv:UnspecifiedMatching +GARD:5961 Bronchiolitis obliterans with obstructive pulmonary disease skos:exactMatch Orphanet:1303 semapv:UnspecifiedMatching +GARD:5962 Bronchopulmonary dysplasia skos:exactMatch Orphanet:70589 semapv:UnspecifiedMatching +GARD:5966 Brucellosis skos:exactMatch Orphanet:1304 semapv:UnspecifiedMatching +GARD:5968 Budd-Chiari syndrome skos:exactMatch Orphanet:131 semapv:UnspecifiedMatching +GARD:5968 Budd-Chiari syndrome skos:narrowMatch OMIM:600880 semapv:UnspecifiedMatching +GARD:5969 Buerger disease skos:exactMatch Orphanet:36258 semapv:UnspecifiedMatching +GARD:5969 Buerger disease skos:narrowMatch OMIM:211480 semapv:UnspecifiedMatching +GARD:5972 Bullous pemphigoid skos:exactMatch Orphanet:703 semapv:UnspecifiedMatching +GARD:5973 Burkitt lymphoma skos:exactMatch Orphanet:543 semapv:UnspecifiedMatching +GARD:5973 Burkitt lymphoma skos:narrowMatch OMIM:113970 semapv:UnspecifiedMatching +GARD:5974 Burning mouth syndrome skos:exactMatch Orphanet:353253 semapv:UnspecifiedMatching +GARD:5975 Scleredema skos:exactMatch Orphanet:352763 semapv:UnspecifiedMatching +GARD:5978 C syndrome skos:exactMatch Orphanet:1308 semapv:UnspecifiedMatching +GARD:5978 C syndrome skos:narrowMatch OMIM:211750 semapv:UnspecifiedMatching +GARD:5979 Hereditary angioedema skos:exactMatch Orphanet:91378 semapv:UnspecifiedMatching +GARD:5979 Hereditary angioedema skos:narrowMatch OMIM:106100 semapv:UnspecifiedMatching +GARD:5979 Hereditary angioedema skos:narrowMatch OMIM:610618 semapv:UnspecifiedMatching +GARD:5980 Calciphylaxis skos:exactMatch Orphanet:280062 semapv:UnspecifiedMatching +GARD:5984 Canavan disease skos:exactMatch Orphanet:141 semapv:UnspecifiedMatching +GARD:5984 Canavan disease skos:narrowMatch OMIM:271900 semapv:UnspecifiedMatching +GARD:599 Fetal alcohol syndrome skos:exactMatch Orphanet:1915 semapv:UnspecifiedMatching +GARD:5993 Osteopetrosis, autosomal recessive 4 skos:broadMatch Orphanet:667 semapv:UnspecifiedMatching +GARD:5993 Osteopetrosis, autosomal recessive 4 skos:exactMatch OMIM:611490 semapv:UnspecifiedMatching +GARD:5994 Carcinoid syndrome skos:exactMatch Orphanet:100093 semapv:UnspecifiedMatching +GARD:6 Acromesomelic dysplasia skos:exactMatch Orphanet:93437 semapv:UnspecifiedMatching +GARD:60 Iridocorneal endothelial syndrome skos:exactMatch Orphanet:64734 semapv:UnspecifiedMatching +GARD:600 Glycogen storage disease due to aldolase A deficiency skos:exactMatch Orphanet:57 semapv:UnspecifiedMatching +GARD:600 Glycogen storage disease due to aldolase A deficiency skos:narrowMatch OMIM:611881 semapv:UnspecifiedMatching +GARD:6001 Carnosinase deficiency skos:exactMatch Orphanet:1361 semapv:UnspecifiedMatching +GARD:6001 Carnosinase deficiency skos:narrowMatch OMIM:212200 semapv:UnspecifiedMatching +GARD:6002 Caroli disease skos:exactMatch Orphanet:53035 semapv:UnspecifiedMatching +GARD:6002 Caroli disease skos:narrowMatch OMIM:600643 semapv:UnspecifiedMatching +GARD:6003 Carpenter syndrome skos:exactMatch Orphanet:65759 semapv:UnspecifiedMatching +GARD:6003 Carpenter syndrome skos:narrowMatch OMIM:201000 semapv:UnspecifiedMatching +GARD:6003 Carpenter syndrome skos:narrowMatch OMIM:614976 semapv:UnspecifiedMatching +GARD:6005 Unicentric Castleman disease skos:exactMatch Orphanet:93685 semapv:UnspecifiedMatching +GARD:6007 Caudal regression syndrome skos:exactMatch Orphanet:3027 semapv:UnspecifiedMatching +GARD:6007 Caudal regression syndrome skos:narrowMatch OMIM:600145 semapv:UnspecifiedMatching +GARD:6010 Macrocystic lymphatic malformation skos:exactMatch Orphanet:79489 semapv:UnspecifiedMatching +GARD:6011 Bilateral perisylvian polymicrogyria skos:exactMatch Orphanet:98889 semapv:UnspecifiedMatching +GARD:6011 Bilateral perisylvian polymicrogyria skos:narrowMatch OMIM:300388 semapv:UnspecifiedMatching +GARD:6011 Bilateral perisylvian polymicrogyria skos:narrowMatch OMIM:615752 semapv:UnspecifiedMatching +GARD:6011 Bilateral perisylvian polymicrogyria skos:narrowMatch OMIM:616531 semapv:UnspecifiedMatching +GARD:6014 Central core disease skos:exactMatch Orphanet:597 semapv:UnspecifiedMatching +GARD:6014 Central core disease skos:narrowMatch OMIM:117000 semapv:UnspecifiedMatching +GARD:6015 Central diabetes insipidus skos:exactMatch Orphanet:178029 semapv:UnspecifiedMatching +GARD:6015 Central diabetes insipidus skos:narrowMatch OMIM:125700 semapv:UnspecifiedMatching +GARD:6015 Central diabetes insipidus skos:narrowMatch OMIM:304900 semapv:UnspecifiedMatching +GARD:602 Allergic bronchopulmonary aspergillosis skos:exactMatch Orphanet:1164 semapv:UnspecifiedMatching +GARD:602 Allergic bronchopulmonary aspergillosis skos:narrowMatch OMIM:103920 semapv:UnspecifiedMatching +GARD:6026 Cerebrocostomandibular syndrome skos:exactMatch Orphanet:1393 semapv:UnspecifiedMatching +GARD:6026 Cerebrocostomandibular syndrome skos:narrowMatch OMIM:117650 semapv:UnspecifiedMatching +GARD:6027 COFS syndrome skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching +GARD:6027 COFS syndrome skos:narrowMatch OMIM:214150 semapv:UnspecifiedMatching +GARD:6027 COFS syndrome skos:narrowMatch OMIM:278780 semapv:UnspecifiedMatching +GARD:6027 COFS syndrome skos:narrowMatch OMIM:610756 semapv:UnspecifiedMatching +GARD:6027 COFS syndrome skos:narrowMatch OMIM:610758 semapv:UnspecifiedMatching +GARD:6027 COFS syndrome skos:narrowMatch OMIM:616570 semapv:UnspecifiedMatching +GARD:6033 Chandler syndrome skos:exactMatch Orphanet:98979 semapv:UnspecifiedMatching +GARD:6034 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy skos:exactMatch Orphanet:166 semapv:UnspecifiedMatching +GARD:6035 Chédiak-Higashi syndrome skos:exactMatch Orphanet:167 semapv:UnspecifiedMatching +GARD:6035 Chédiak-Higashi syndrome skos:narrowMatch OMIM:214500 semapv:UnspecifiedMatching +GARD:6036 Cherubism skos:exactMatch Orphanet:184 semapv:UnspecifiedMatching +GARD:6036 Cherubism skos:narrowMatch OMIM:118400 semapv:UnspecifiedMatching +GARD:6038 Chikungunya skos:exactMatch Orphanet:324625 semapv:UnspecifiedMatching +GARD:6039 CHILD syndrome skos:exactMatch Orphanet:139 semapv:UnspecifiedMatching +GARD:6039 CHILD syndrome skos:narrowMatch OMIM:308050 semapv:UnspecifiedMatching +GARD:604 Autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1010 semapv:UnspecifiedMatching +GARD:604 Autosomal dominant palmoplantar keratoderma and congenital alopecia skos:narrowMatch OMIM:104100 semapv:UnspecifiedMatching +GARD:6040 Childhood disintegrative disorder skos:exactMatch Orphanet:168782 semapv:UnspecifiedMatching +GARD:6043 Cholera skos:exactMatch Orphanet:173 semapv:UnspecifiedMatching +GARD:6048 Chondrocalcinosis 1 skos:broadMatch Orphanet:1416 semapv:UnspecifiedMatching +GARD:6048 Chondrocalcinosis 1 skos:exactMatch OMIM:600668 semapv:UnspecifiedMatching +GARD:6049 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch Orphanet:309789 semapv:UnspecifiedMatching +GARD:6049 Rhizomelic chondrodysplasia punctata type 1 skos:narrowMatch OMIM:215100 semapv:UnspecifiedMatching +GARD:605 Alopecia-contractures-dwarfism-intellectual disability syndrome skos:exactMatch Orphanet:1005 semapv:UnspecifiedMatching +GARD:605 Alopecia-contractures-dwarfism-intellectual disability syndrome skos:narrowMatch OMIM:203550 semapv:UnspecifiedMatching +GARD:6055 Chondrosarcoma skos:exactMatch Orphanet:55880 semapv:UnspecifiedMatching +GARD:6055 Chondrosarcoma skos:narrowMatch OMIM:215300 semapv:UnspecifiedMatching +GARD:606 Moynahan syndrome skos:exactMatch Orphanet:2574 semapv:UnspecifiedMatching +GARD:606 Moynahan syndrome skos:narrowMatch OMIM:203600 semapv:UnspecifiedMatching +GARD:6061 Choroideremia skos:exactMatch Orphanet:180 semapv:UnspecifiedMatching +GARD:6061 Choroideremia skos:narrowMatch OMIM:303100 semapv:UnspecifiedMatching +GARD:6064 Chromophobe renal cell carcinoma skos:exactMatch Orphanet:319303 semapv:UnspecifiedMatching +GARD:6069 Ring chromosome 13 syndrome skos:exactMatch Orphanet:96176 semapv:UnspecifiedMatching +GARD:607 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch Orphanet:1008 semapv:UnspecifiedMatching +GARD:607 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:narrowMatch OMIM:104130 semapv:UnspecifiedMatching +GARD:6072 Ring chromosome 14 syndrome skos:exactMatch Orphanet:1440 semapv:UnspecifiedMatching +GARD:6072 Ring chromosome 14 syndrome skos:narrowMatch OMIM:616606 semapv:UnspecifiedMatching +GARD:6077 Ring chromosome 18 syndrome skos:exactMatch Orphanet:1442 semapv:UnspecifiedMatching +GARD:6082 1p36 deletion syndrome skos:exactMatch Orphanet:1606 semapv:UnspecifiedMatching +GARD:6082 1p36 deletion syndrome skos:narrowMatch OMIM:607872 semapv:UnspecifiedMatching +GARD:6082 1p36 deletion syndrome skos:narrowMatch OMIM:616975 semapv:UnspecifiedMatching +GARD:6083 Ring chromosome 21 syndrome skos:exactMatch Orphanet:1445 semapv:UnspecifiedMatching +GARD:6085 Mosaic trisomy 22 skos:exactMatch Orphanet:96068 semapv:UnspecifiedMatching +GARD:6091 Trisomy 4p skos:exactMatch Orphanet:1738 semapv:UnspecifiedMatching +GARD:6093 Trisomy 5p skos:exactMatch Orphanet:1742 semapv:UnspecifiedMatching +GARD:6095 Ring chromosome 6 syndrome skos:exactMatch Orphanet:1448 semapv:UnspecifiedMatching +GARD:61 Femoral-facial syndrome skos:exactMatch Orphanet:1988 semapv:UnspecifiedMatching +GARD:61 Femoral-facial syndrome skos:narrowMatch OMIM:134780 semapv:UnspecifiedMatching +GARD:6100 Chronic granulomatous disease skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching +GARD:6100 Chronic granulomatous disease skos:narrowMatch OMIM:233690 semapv:UnspecifiedMatching +GARD:6100 Chronic granulomatous disease skos:narrowMatch OMIM:233700 semapv:UnspecifiedMatching +GARD:6100 Chronic granulomatous disease skos:narrowMatch OMIM:233710 semapv:UnspecifiedMatching +GARD:6100 Chronic granulomatous disease skos:narrowMatch OMIM:306400 semapv:UnspecifiedMatching +GARD:6100 Chronic granulomatous disease skos:narrowMatch OMIM:613960 semapv:UnspecifiedMatching +GARD:6100 Chronic granulomatous disease skos:narrowMatch OMIM:618935 semapv:UnspecifiedMatching +GARD:6102 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:2932 semapv:UnspecifiedMatching +GARD:6104 B-cell chronic lymphocytic leukemia skos:exactMatch Orphanet:67038 semapv:UnspecifiedMatching +GARD:6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:109543 semapv:UnspecifiedMatching +GARD:6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:151400 semapv:UnspecifiedMatching +GARD:6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:609630 semapv:UnspecifiedMatching +GARD:6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612557 semapv:UnspecifiedMatching +GARD:6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612558 semapv:UnspecifiedMatching +GARD:6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612559 semapv:UnspecifiedMatching +GARD:6105 Chronic myeloid leukemia skos:exactMatch Orphanet:521 semapv:UnspecifiedMatching +GARD:6105 Chronic myeloid leukemia skos:narrowMatch OMIM:608232 semapv:UnspecifiedMatching +GARD:6107 Neutropenia, lethal congenital, with eosinophilia skos:broadMatch Orphanet:486 semapv:UnspecifiedMatching +GARD:6107 Neutropenia, lethal congenital, with eosinophilia skos:exactMatch OMIM:257100 semapv:UnspecifiedMatching +GARD:6108 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis skos:exactMatch Orphanet:324964 semapv:UnspecifiedMatching +GARD:6108 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis skos:narrowMatch OMIM:259680 semapv:UnspecifiedMatching +GARD:6111 Eosinophilic granulomatosis with polyangiitis skos:exactMatch Orphanet:183 semapv:UnspecifiedMatching +GARD:6114 Citrullinemia type I skos:exactMatch Orphanet:247525 semapv:UnspecifiedMatching +GARD:6114 Citrullinemia type I skos:narrowMatch OMIM:215700 semapv:UnspecifiedMatching +GARD:6118 Cleidocranial dysplasia skos:exactMatch Orphanet:1452 semapv:UnspecifiedMatching +GARD:6118 Cleidocranial dysplasia skos:narrowMatch OMIM:119600 semapv:UnspecifiedMatching +GARD:6118 Cleidocranial dysplasia skos:narrowMatch OMIM:216330 semapv:UnspecifiedMatching +GARD:612 Alopecia-intellectual disability syndrome skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching +GARD:612 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:203650 semapv:UnspecifiedMatching +GARD:612 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:610422 semapv:UnspecifiedMatching +GARD:612 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:613930 semapv:UnspecifiedMatching +GARD:612 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:618840 semapv:UnspecifiedMatching +GARD:6121 Coats disease skos:exactMatch Orphanet:190 semapv:UnspecifiedMatching +GARD:6121 Coats disease skos:narrowMatch OMIM:300216 semapv:UnspecifiedMatching +GARD:6122 Cockayne syndrome skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching +GARD:6122 Cockayne syndrome skos:narrowMatch OMIM:133540 semapv:UnspecifiedMatching +GARD:6122 Cockayne syndrome skos:narrowMatch OMIM:214150 semapv:UnspecifiedMatching +GARD:6122 Cockayne syndrome skos:narrowMatch OMIM:216400 semapv:UnspecifiedMatching +GARD:6122 Cockayne syndrome skos:narrowMatch OMIM:278780 semapv:UnspecifiedMatching +GARD:6122 Cockayne syndrome skos:narrowMatch OMIM:610756 semapv:UnspecifiedMatching +GARD:6122 Cockayne syndrome skos:narrowMatch OMIM:610758 semapv:UnspecifiedMatching +GARD:6122 Cockayne syndrome skos:narrowMatch OMIM:616570 semapv:UnspecifiedMatching +GARD:6123 Coffin-Lowry syndrome skos:exactMatch Orphanet:192 semapv:UnspecifiedMatching +GARD:6123 Coffin-Lowry syndrome skos:narrowMatch OMIM:303600 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:135900 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:614607 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:614608 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:614609 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:615866 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:616938 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:617808 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:618027 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:618362 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:618506 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:618779 semapv:UnspecifiedMatching +GARD:6124 Coffin-Siris syndrome skos:narrowMatch OMIM:619325 semapv:UnspecifiedMatching +GARD:6125 Cogan-Reese syndrome skos:exactMatch Orphanet:98980 semapv:UnspecifiedMatching +GARD:6126 Cohen syndrome skos:exactMatch Orphanet:193 semapv:UnspecifiedMatching +GARD:6126 Cohen syndrome skos:narrowMatch OMIM:216550 semapv:UnspecifiedMatching +GARD:613 Alopecia totalis skos:exactMatch Orphanet:700 semapv:UnspecifiedMatching +GARD:613 Alopecia totalis skos:narrowMatch OMIM:104000 semapv:UnspecifiedMatching +GARD:613 Alopecia totalis skos:narrowMatch OMIM:300042 semapv:UnspecifiedMatching +GARD:613 Alopecia totalis skos:narrowMatch OMIM:610753 semapv:UnspecifiedMatching +GARD:6130 Cold agglutinin disease skos:exactMatch Orphanet:56425 semapv:UnspecifiedMatching +GARD:614 Alopecia universalis skos:exactMatch Orphanet:701 semapv:UnspecifiedMatching +GARD:614 Alopecia universalis skos:narrowMatch OMIM:104000 semapv:UnspecifiedMatching +GARD:614 Alopecia universalis skos:narrowMatch OMIM:203655 semapv:UnspecifiedMatching +GARD:614 Alopecia universalis skos:narrowMatch OMIM:610753 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:146830 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:240500 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:607594 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:613493 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:613494 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:613495 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:613496 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:614699 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:615577 semapv:UnspecifiedMatching +GARD:6140 Common variable immunodeficiency skos:narrowMatch OMIM:616576 semapv:UnspecifiedMatching +GARD:6145 Cone-rod dystrophy 2 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +GARD:6145 Cone-rod dystrophy 2 skos:exactMatch OMIM:120970 semapv:UnspecifiedMatching +GARD:6148 Hereditary thrombophilia due to congenital antithrombin deficiency skos:exactMatch Orphanet:82 semapv:UnspecifiedMatching +GARD:6148 Hereditary thrombophilia due to congenital antithrombin deficiency skos:narrowMatch OMIM:613118 semapv:UnspecifiedMatching +GARD:6161 Congenital fiber-type disproportion myopathy skos:exactMatch Orphanet:2020 semapv:UnspecifiedMatching +GARD:6161 Congenital fiber-type disproportion myopathy skos:narrowMatch OMIM:255310 semapv:UnspecifiedMatching +GARD:6161 Congenital fiber-type disproportion myopathy skos:narrowMatch OMIM:300580 semapv:UnspecifiedMatching +GARD:6161 Congenital fiber-type disproportion myopathy skos:narrowMatch OMIM:617760 semapv:UnspecifiedMatching +GARD:6164 Congenital heart block skos:exactMatch Orphanet:60041 semapv:UnspecifiedMatching +GARD:6164 Congenital heart block skos:narrowMatch OMIM:234700 semapv:UnspecifiedMatching +GARD:6168 Polycystic kidney disease 4 with or without polycystic liver disease skos:broadMatch Orphanet:731 semapv:UnspecifiedMatching +GARD:6168 Polycystic kidney disease 4 with or without polycystic liver disease skos:exactMatch OMIM:263200 semapv:UnspecifiedMatching +GARD:6169 Hepatoerythropoietic porphyria skos:exactMatch Orphanet:95159 semapv:UnspecifiedMatching +GARD:6169 Hepatoerythropoietic porphyria skos:narrowMatch OMIM:176100 semapv:UnspecifiedMatching +GARD:617 Oxoglutaric aciduria skos:exactMatch Orphanet:31 semapv:UnspecifiedMatching +GARD:617 Oxoglutaric aciduria skos:narrowMatch OMIM:203740 semapv:UnspecifiedMatching +GARD:6176 Myotonia congenita, autosomal dominant skos:broadMatch Orphanet:614 semapv:UnspecifiedMatching +GARD:6176 Myotonia congenita, autosomal dominant skos:exactMatch OMIM:160800 semapv:UnspecifiedMatching +GARD:6189 X-linked dominant chondrodysplasia punctata skos:exactMatch Orphanet:35173 semapv:UnspecifiedMatching +GARD:6189 X-linked dominant chondrodysplasia punctata skos:narrowMatch OMIM:302960 semapv:UnspecifiedMatching +GARD:6194 Triatrial heart skos:exactMatch Orphanet:1463 semapv:UnspecifiedMatching +GARD:6196 Congenital hereditary endothelial dystrophy type II skos:exactMatch Orphanet:293603 semapv:UnspecifiedMatching +GARD:6196 Congenital hereditary endothelial dystrophy type II skos:narrowMatch OMIM:217700 semapv:UnspecifiedMatching +GARD:62 Filippi syndrome skos:exactMatch Orphanet:3255 semapv:UnspecifiedMatching +GARD:62 Filippi syndrome skos:narrowMatch OMIM:272440 semapv:UnspecifiedMatching +GARD:6202 Cowden syndrome skos:exactMatch Orphanet:201 semapv:UnspecifiedMatching +GARD:6202 Cowden syndrome skos:narrowMatch OMIM:158350 semapv:UnspecifiedMatching +GARD:6202 Cowden syndrome skos:narrowMatch OMIM:615107 semapv:UnspecifiedMatching +GARD:6202 Cowden syndrome skos:narrowMatch OMIM:615108 semapv:UnspecifiedMatching +GARD:6202 Cowden syndrome skos:narrowMatch OMIM:615109 semapv:UnspecifiedMatching +GARD:6202 Cowden syndrome skos:narrowMatch OMIM:616858 semapv:UnspecifiedMatching +GARD:6205 Cramp-fasciculation syndrome skos:exactMatch Orphanet:581271 semapv:UnspecifiedMatching +GARD:6206 Crouzon syndrome skos:exactMatch Orphanet:207 semapv:UnspecifiedMatching +GARD:6206 Crouzon syndrome skos:narrowMatch OMIM:123500 semapv:UnspecifiedMatching +GARD:6209 Craniosynostosis skos:exactMatch Orphanet:1531 semapv:UnspecifiedMatching +GARD:621 Alpha-thalassemia skos:exactMatch Orphanet:846 semapv:UnspecifiedMatching +GARD:621 Alpha-thalassemia skos:narrowMatch OMIM:604131 semapv:UnspecifiedMatching +GARD:6213 Monosomy 5p skos:exactMatch Orphanet:281 semapv:UnspecifiedMatching +GARD:6213 Monosomy 5p skos:narrowMatch OMIM:123450 semapv:UnspecifiedMatching +GARD:6217 Simple cryoglobulinemia skos:exactMatch Orphanet:91139 semapv:UnspecifiedMatching +GARD:6218 Cryptococcosis skos:exactMatch Orphanet:1546 semapv:UnspecifiedMatching +GARD:6224 Cushing syndrome skos:exactMatch Orphanet:553 semapv:UnspecifiedMatching +GARD:6225 Rare cutaneous lupus erythematosus skos:exactMatch Orphanet:535 semapv:UnspecifiedMatching +GARD:6226 Primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:171901 semapv:UnspecifiedMatching +GARD:6227 Cutis laxa skos:exactMatch Orphanet:209 semapv:UnspecifiedMatching +GARD:6228 Cutis marmorata telangiectatica congenita skos:exactMatch Orphanet:1556 semapv:UnspecifiedMatching +GARD:6228 Cutis marmorata telangiectatica congenita skos:narrowMatch OMIM:219250 semapv:UnspecifiedMatching +GARD:6229 Cyclic neutropenia skos:exactMatch Orphanet:2686 semapv:UnspecifiedMatching +GARD:6229 Cyclic neutropenia skos:narrowMatch OMIM:162800 semapv:UnspecifiedMatching +GARD:6233 Cystic fibrosis skos:exactMatch Orphanet:586 semapv:UnspecifiedMatching +GARD:6233 Cystic fibrosis skos:narrowMatch OMIM:219700 semapv:UnspecifiedMatching +GARD:6236 Cystinosis skos:exactMatch Orphanet:213 semapv:UnspecifiedMatching +GARD:6236 Cystinosis skos:narrowMatch OMIM:219750 semapv:UnspecifiedMatching +GARD:6236 Cystinosis skos:narrowMatch OMIM:219800 semapv:UnspecifiedMatching +GARD:6236 Cystinosis skos:narrowMatch OMIM:219900 semapv:UnspecifiedMatching +GARD:6237 Cystinuria skos:exactMatch Orphanet:214 semapv:UnspecifiedMatching +GARD:6237 Cystinuria skos:narrowMatch OMIM:220100 semapv:UnspecifiedMatching +GARD:624 Autosomal dominant Alport syndrome skos:exactMatch Orphanet:88918 semapv:UnspecifiedMatching +GARD:624 Autosomal dominant Alport syndrome skos:narrowMatch OMIM:104200 semapv:UnspecifiedMatching +GARD:6242 Isolated Dandy-Walker malformation skos:exactMatch Orphanet:217 semapv:UnspecifiedMatching +GARD:6242 Isolated Dandy-Walker malformation skos:narrowMatch OMIM:220200 semapv:UnspecifiedMatching +GARD:6243 Darier disease skos:exactMatch Orphanet:218 semapv:UnspecifiedMatching +GARD:6243 Darier disease skos:narrowMatch OMIM:124200 semapv:UnspecifiedMatching +GARD:6249 Malignant atrophic papulosis skos:exactMatch Orphanet:679 semapv:UnspecifiedMatching +GARD:6249 Malignant atrophic papulosis skos:narrowMatch OMIM:602248 semapv:UnspecifiedMatching +GARD:625 Autosomal recessive Alport syndrome skos:exactMatch Orphanet:88919 semapv:UnspecifiedMatching +GARD:625 Autosomal recessive Alport syndrome skos:narrowMatch OMIM:203780 semapv:UnspecifiedMatching +GARD:6254 Dengue fever skos:exactMatch Orphanet:99828 semapv:UnspecifiedMatching +GARD:6254 Dengue fever skos:narrowMatch OMIM:614371 semapv:UnspecifiedMatching +GARD:6258 Dentinogenesis imperfecta skos:exactMatch Orphanet:49042 semapv:UnspecifiedMatching +GARD:6263 Dermatomyositis skos:exactMatch Orphanet:221 semapv:UnspecifiedMatching +GARD:6265 Desmoplastic small round cell tumor skos:exactMatch Orphanet:83469 semapv:UnspecifiedMatching +GARD:6267 Neuromyelitis optica spectrum disorder skos:exactMatch Orphanet:71211 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:105650 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:300946 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:606129 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:606164 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:610629 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612527 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612528 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612561 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612562 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612563 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:613308 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:613309 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:614900 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:615550 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:615909 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:617408 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:617409 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:618310 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:618312 semapv:UnspecifiedMatching +GARD:6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:618313 semapv:UnspecifiedMatching +GARD:6275 Diastrophic dysplasia skos:exactMatch Orphanet:628 semapv:UnspecifiedMatching +GARD:6275 Diastrophic dysplasia skos:narrowMatch OMIM:222600 semapv:UnspecifiedMatching +GARD:6276 Diencephalic syndrome skos:exactMatch Orphanet:1672 semapv:UnspecifiedMatching +GARD:6286 Dracunculiasis skos:exactMatch Orphanet:231 semapv:UnspecifiedMatching +GARD:6288 Duane retraction syndrome skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching +GARD:6288 Duane retraction syndrome skos:narrowMatch OMIM:126800 semapv:UnspecifiedMatching +GARD:6288 Duane retraction syndrome skos:narrowMatch OMIM:604356 semapv:UnspecifiedMatching +GARD:6288 Duane retraction syndrome skos:narrowMatch OMIM:616219 semapv:UnspecifiedMatching +GARD:6288 Duane retraction syndrome skos:narrowMatch OMIM:617041 semapv:UnspecifiedMatching +GARD:6290 Dubowitz syndrome skos:exactMatch Orphanet:235 semapv:UnspecifiedMatching +GARD:6290 Dubowitz syndrome skos:narrowMatch OMIM:223370 semapv:UnspecifiedMatching +GARD:6291 Duchenne muscular dystrophy skos:exactMatch Orphanet:98896 semapv:UnspecifiedMatching +GARD:6291 Duchenne muscular dystrophy skos:narrowMatch OMIM:310200 semapv:UnspecifiedMatching +GARD:6295 Dyggve-Melchior-Clausen disease skos:exactMatch Orphanet:239 semapv:UnspecifiedMatching +GARD:6295 Dyggve-Melchior-Clausen disease skos:narrowMatch OMIM:223800 semapv:UnspecifiedMatching +GARD:6295 Dyggve-Melchior-Clausen disease skos:narrowMatch OMIM:304950 semapv:UnspecifiedMatching +GARD:6299 Dyskeratosis congenita, autosomal dominant 1 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:6299 Dyskeratosis congenita, autosomal dominant 1 skos:exactMatch OMIM:127550 semapv:UnspecifiedMatching +GARD:6300 Dyskeratosis congenita, autosomal recessive 1 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +GARD:6300 Dyskeratosis congenita, autosomal recessive 1 skos:exactMatch OMIM:224230 semapv:UnspecifiedMatching +GARD:6308 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form skos:exactMatch Orphanet:79408 semapv:UnspecifiedMatching +GARD:6308 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form skos:narrowMatch OMIM:226600 semapv:UnspecifiedMatching +GARD:6309 Eales disease skos:exactMatch Orphanet:40923 semapv:UnspecifiedMatching +GARD:6313 Ebstein malformation of the tricuspid valve skos:exactMatch Orphanet:1880 semapv:UnspecifiedMatching +GARD:6313 Ebstein malformation of the tricuspid valve skos:narrowMatch OMIM:224700 semapv:UnspecifiedMatching +GARD:6317 Ectodermal dysplasia syndrome skos:exactMatch Orphanet:79373 semapv:UnspecifiedMatching +GARD:6319 Isolated split hand-split foot malformation skos:exactMatch Orphanet:2440 semapv:UnspecifiedMatching +GARD:6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:183600 semapv:UnspecifiedMatching +GARD:6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:225300 semapv:UnspecifiedMatching +GARD:6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:246560 semapv:UnspecifiedMatching +GARD:6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:313350 semapv:UnspecifiedMatching +GARD:6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:605289 semapv:UnspecifiedMatching +GARD:6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:606708 semapv:UnspecifiedMatching +GARD:6321 Trisomy 18 skos:exactMatch Orphanet:3380 semapv:UnspecifiedMatching +GARD:6322 Ehlers-Danlos syndrome skos:exactMatch Orphanet:98249 semapv:UnspecifiedMatching +GARD:6323 Eisenmenger syndrome skos:exactMatch Orphanet:97214 semapv:UnspecifiedMatching +GARD:6329 Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +GARD:6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:181350 semapv:UnspecifiedMatching +GARD:6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:300696 semapv:UnspecifiedMatching +GARD:6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:310300 semapv:UnspecifiedMatching +GARD:6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612998 semapv:UnspecifiedMatching +GARD:6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612999 semapv:UnspecifiedMatching +GARD:6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:614302 semapv:UnspecifiedMatching +GARD:6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:616516 semapv:UnspecifiedMatching +GARD:6332 Encephalitis lethargica skos:exactMatch Orphanet:83600 semapv:UnspecifiedMatching +GARD:6333 Isolated encephalocele skos:exactMatch Orphanet:199647 semapv:UnspecifiedMatching +GARD:6336 Endocardial fibroelastosis skos:exactMatch Orphanet:2022 semapv:UnspecifiedMatching +GARD:6336 Endocardial fibroelastosis skos:narrowMatch OMIM:226000 semapv:UnspecifiedMatching +GARD:6337 Infective endocarditis skos:exactMatch Orphanet:570762 semapv:UnspecifiedMatching +GARD:6339 Endometrial stromal sarcoma skos:exactMatch Orphanet:213711 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:exactMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:179900 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:204000 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:204100 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:604232 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:604393 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:604537 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:608553 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:610612 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:611755 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:612712 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:613341 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:613826 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:613829 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:613835 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:613837 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:613843 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:614186 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:615360 semapv:UnspecifiedMatching +GARD:634 Leber congenital amaurosis skos:narrowMatch OMIM:618513 semapv:UnspecifiedMatching +GARD:635 Leber congenital amaurosis 1 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:635 Leber congenital amaurosis 1 skos:exactMatch OMIM:204000 semapv:UnspecifiedMatching +GARD:6351 Eosinophilic fasciitis skos:exactMatch Orphanet:3165 semapv:UnspecifiedMatching +GARD:6351 Eosinophilic fasciitis skos:narrowMatch OMIM:226350 semapv:UnspecifiedMatching +GARD:6353 Ependymoma skos:exactMatch Orphanet:251636 semapv:UnspecifiedMatching +GARD:6357 Epidermodysplasia verruciformis skos:exactMatch Orphanet:302 semapv:UnspecifiedMatching +GARD:6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:226400 semapv:UnspecifiedMatching +GARD:6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:305350 semapv:UnspecifiedMatching +GARD:6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:618231 semapv:UnspecifiedMatching +GARD:6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:618267 semapv:UnspecifiedMatching +GARD:6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:618309 semapv:UnspecifiedMatching +GARD:636 Leber congenital amaurosis 2 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:636 Leber congenital amaurosis 2 skos:exactMatch OMIM:204100 semapv:UnspecifiedMatching +GARD:6360 Epidermolysis bullosa acquisita skos:exactMatch Orphanet:46487 semapv:UnspecifiedMatching +GARD:6369 Erdheim-Chester disease skos:exactMatch Orphanet:35687 semapv:UnspecifiedMatching +GARD:637 Amaurosis-hypertrichosis syndrome skos:exactMatch Orphanet:1021 semapv:UnspecifiedMatching +GARD:637 Amaurosis-hypertrichosis syndrome skos:narrowMatch OMIM:204110 semapv:UnspecifiedMatching +GARD:6377 Primary erythromelalgia skos:exactMatch Orphanet:90026 semapv:UnspecifiedMatching +GARD:6377 Primary erythromelalgia skos:narrowMatch OMIM:133020 semapv:UnspecifiedMatching +GARD:6381 Esophageal atresia skos:exactMatch Orphanet:1199 semapv:UnspecifiedMatching +GARD:6381 Esophageal atresia skos:narrowMatch OMIM:189960 semapv:UnspecifiedMatching +GARD:6383 Carcinoma of esophagus skos:exactMatch Orphanet:70482 semapv:UnspecifiedMatching +GARD:6386 Cryoglobulinemic vasculitis skos:exactMatch Orphanet:91138 semapv:UnspecifiedMatching +GARD:6386 Cryoglobulinemic vasculitis skos:narrowMatch OMIM:123550 semapv:UnspecifiedMatching +GARD:6389 Evans syndrome skos:exactMatch Orphanet:1959 semapv:UnspecifiedMatching +GARD:6390 Skeletal Ewing sarcoma skos:exactMatch Orphanet:319 semapv:UnspecifiedMatching +GARD:6390 Skeletal Ewing sarcoma skos:narrowMatch OMIM:612219 semapv:UnspecifiedMatching +GARD:6398 Bladder exstrophy skos:exactMatch Orphanet:93930 semapv:UnspecifiedMatching +GARD:6398 Bladder exstrophy skos:narrowMatch OMIM:600057 semapv:UnspecifiedMatching +GARD:64 Fountain syndrome skos:exactMatch Orphanet:3219 semapv:UnspecifiedMatching +GARD:64 Fountain syndrome skos:narrowMatch OMIM:229120 semapv:UnspecifiedMatching +GARD:640 Congenital amegakaryocytic thrombocytopenia skos:exactMatch Orphanet:3319 semapv:UnspecifiedMatching +GARD:640 Congenital amegakaryocytic thrombocytopenia skos:narrowMatch OMIM:604498 semapv:UnspecifiedMatching +GARD:6400 Fabry disease skos:exactMatch Orphanet:324 semapv:UnspecifiedMatching +GARD:6400 Fabry disease skos:narrowMatch OMIM:301500 semapv:UnspecifiedMatching +GARD:6404 Congenital factor X deficiency skos:exactMatch Orphanet:328 semapv:UnspecifiedMatching +GARD:6404 Congenital factor X deficiency skos:narrowMatch OMIM:227600 semapv:UnspecifiedMatching +GARD:6405 Acquired hemophilia A skos:exactMatch Orphanet:599480 semapv:UnspecifiedMatching +GARD:6406 Bilateral striopallidodentate calcinosis skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching +GARD:6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:213600 semapv:UnspecifiedMatching +GARD:6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:615007 semapv:UnspecifiedMatching +GARD:6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:615483 semapv:UnspecifiedMatching +GARD:6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:616413 semapv:UnspecifiedMatching +GARD:6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:618824 semapv:UnspecifiedMatching +GARD:6408 Familial adenomatous polyposis skos:exactMatch Orphanet:733 semapv:UnspecifiedMatching +GARD:6408 Familial adenomatous polyposis skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +GARD:6414 Familial chylomicronemia syndrome skos:exactMatch Orphanet:444490 semapv:UnspecifiedMatching +GARD:6414 Familial chylomicronemia syndrome skos:narrowMatch OMIM:118830 semapv:UnspecifiedMatching +GARD:6414 Familial chylomicronemia syndrome skos:narrowMatch OMIM:207750 semapv:UnspecifiedMatching +GARD:6414 Familial chylomicronemia syndrome skos:narrowMatch OMIM:238600 semapv:UnspecifiedMatching +GARD:6414 Familial chylomicronemia syndrome skos:narrowMatch OMIM:615947 semapv:UnspecifiedMatching +GARD:6421 Familial Mediterranean fever skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching +GARD:6421 Familial Mediterranean fever skos:narrowMatch OMIM:134610 semapv:UnspecifiedMatching +GARD:6421 Familial Mediterranean fever skos:narrowMatch OMIM:249100 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:exactMatch Orphanet:84 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:227645 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:227646 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:227650 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:300514 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:600901 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:603467 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:609053 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:609054 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:610832 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:613390 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:613951 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:614082 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:614083 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:615272 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:616435 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:617243 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:617244 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:617247 semapv:UnspecifiedMatching +GARD:6425 Fanconi anemia skos:narrowMatch OMIM:617883 semapv:UnspecifiedMatching +GARD:6426 Farber disease skos:exactMatch Orphanet:333 semapv:UnspecifiedMatching +GARD:6426 Farber disease skos:narrowMatch OMIM:228000 semapv:UnspecifiedMatching +GARD:6427 Farmer's lung disease skos:exactMatch Orphanet:99906 semapv:UnspecifiedMatching +GARD:6429 Fatal familial insomnia skos:exactMatch Orphanet:466 semapv:UnspecifiedMatching +GARD:6429 Fatal familial insomnia skos:narrowMatch OMIM:600072 semapv:UnspecifiedMatching +GARD:6435 Fetal hydantoin syndrome skos:exactMatch Orphanet:1912 semapv:UnspecifiedMatching +GARD:6444 Fibrous dysplasia of bone skos:exactMatch Orphanet:249 semapv:UnspecifiedMatching +GARD:6445 Fibrodysplasia ossificans progressiva skos:exactMatch Orphanet:337 semapv:UnspecifiedMatching +GARD:6445 Fibrodysplasia ossificans progressiva skos:narrowMatch OMIM:135100 semapv:UnspecifiedMatching +GARD:6447 Severe primary trimethylaminuria skos:exactMatch Orphanet:468726 semapv:UnspecifiedMatching +GARD:6447 Severe primary trimethylaminuria skos:narrowMatch OMIM:602079 semapv:UnspecifiedMatching +GARD:645 Hypoplastic amelogenesis imperfecta skos:exactMatch Orphanet:100031 semapv:UnspecifiedMatching +GARD:645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:104500 semapv:UnspecifiedMatching +GARD:645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:104530 semapv:UnspecifiedMatching +GARD:645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:204650 semapv:UnspecifiedMatching +GARD:645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:301201 semapv:UnspecifiedMatching +GARD:645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:616221 semapv:UnspecifiedMatching +GARD:645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:616270 semapv:UnspecifiedMatching +GARD:645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:617297 semapv:UnspecifiedMatching +GARD:6450 Fish-eye disease skos:exactMatch Orphanet:79292 semapv:UnspecifiedMatching +GARD:6450 Fish-eye disease skos:narrowMatch OMIM:136120 semapv:UnspecifiedMatching +GARD:6455 Floating-Harbor syndrome skos:exactMatch Orphanet:2044 semapv:UnspecifiedMatching +GARD:6455 Floating-Harbor syndrome skos:narrowMatch OMIM:136140 semapv:UnspecifiedMatching +GARD:6457 Focal dermal hypoplasia skos:exactMatch Orphanet:2092 semapv:UnspecifiedMatching +GARD:6457 Focal dermal hypoplasia skos:narrowMatch OMIM:305600 semapv:UnspecifiedMatching +GARD:646 Enamel-renal syndrome skos:exactMatch Orphanet:1031 semapv:UnspecifiedMatching +GARD:646 Enamel-renal syndrome skos:narrowMatch OMIM:204690 semapv:UnspecifiedMatching +GARD:6464 Fragile X syndrome skos:exactMatch Orphanet:908 semapv:UnspecifiedMatching +GARD:6464 Fragile X syndrome skos:narrowMatch OMIM:300624 semapv:UnspecifiedMatching +GARD:6464 Fragile X syndrome skos:narrowMatch OMIM:311360 semapv:UnspecifiedMatching +GARD:6465 Fraser syndrome skos:exactMatch Orphanet:2052 semapv:UnspecifiedMatching +GARD:6465 Fraser syndrome skos:narrowMatch OMIM:219000 semapv:UnspecifiedMatching +GARD:6465 Fraser syndrome skos:narrowMatch OMIM:617666 semapv:UnspecifiedMatching +GARD:6465 Fraser syndrome skos:narrowMatch OMIM:617667 semapv:UnspecifiedMatching +GARD:6466 Freeman-Sheldon syndrome skos:exactMatch Orphanet:2053 semapv:UnspecifiedMatching +GARD:6466 Freeman-Sheldon syndrome skos:narrowMatch OMIM:193700 semapv:UnspecifiedMatching +GARD:6466 Freeman-Sheldon syndrome skos:narrowMatch OMIM:277720 semapv:UnspecifiedMatching +GARD:6466 Freeman-Sheldon syndrome skos:narrowMatch OMIM:616266 semapv:UnspecifiedMatching +GARD:6466 Freeman-Sheldon syndrome skos:narrowMatch OMIM:618436 semapv:UnspecifiedMatching +GARD:6468 Friedreich ataxia skos:exactMatch Orphanet:95 semapv:UnspecifiedMatching +GARD:6468 Friedreich ataxia skos:narrowMatch OMIM:229300 semapv:UnspecifiedMatching +GARD:6468 Friedreich ataxia skos:narrowMatch OMIM:601992 semapv:UnspecifiedMatching +GARD:647 Amelo-onycho-hypohidrotic syndrome skos:exactMatch Orphanet:1028 semapv:UnspecifiedMatching +GARD:647 Amelo-onycho-hypohidrotic syndrome skos:narrowMatch OMIM:104570 semapv:UnspecifiedMatching +GARD:6471 Essential fructosuria skos:exactMatch Orphanet:2056 semapv:UnspecifiedMatching +GARD:6471 Essential fructosuria skos:narrowMatch OMIM:229800 semapv:UnspecifiedMatching +GARD:6473 Fucosidosis skos:exactMatch Orphanet:349 semapv:UnspecifiedMatching +GARD:6473 Fucosidosis skos:narrowMatch OMIM:230000 semapv:UnspecifiedMatching +GARD:6475 Congenital muscular dystrophy, Fukuyama type skos:exactMatch Orphanet:272 semapv:UnspecifiedMatching +GARD:6475 Congenital muscular dystrophy, Fukuyama type skos:narrowMatch OMIM:253800 semapv:UnspecifiedMatching +GARD:6476 Fumaric aciduria skos:exactMatch Orphanet:24 semapv:UnspecifiedMatching +GARD:6476 Fumaric aciduria skos:narrowMatch OMIM:606812 semapv:UnspecifiedMatching +GARD:6479 GM1 gangliosidosis type 1 skos:exactMatch Orphanet:79255 semapv:UnspecifiedMatching +GARD:6479 GM1 gangliosidosis type 1 skos:narrowMatch OMIM:230500 semapv:UnspecifiedMatching +GARD:6481 Autoerythrocyte sensitization syndrome skos:exactMatch Orphanet:324636 semapv:UnspecifiedMatching +GARD:6482 Gardner syndrome skos:exactMatch Orphanet:79665 semapv:UnspecifiedMatching +GARD:6482 Gardner syndrome skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +GARD:6485 MALT lymphoma skos:exactMatch Orphanet:52417 semapv:UnspecifiedMatching +GARD:6485 MALT lymphoma skos:narrowMatch OMIM:137245 semapv:UnspecifiedMatching +GARD:6497 Pemphigoid gestationis skos:exactMatch Orphanet:63275 semapv:UnspecifiedMatching +GARD:6498 Gestational trophoblastic neoplasm skos:exactMatch Orphanet:59305 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:exactMatch Orphanet:2065 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:narrowMatch OMIM:251300 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:narrowMatch OMIM:301006 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:narrowMatch OMIM:617729 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:narrowMatch OMIM:617730 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:narrowMatch OMIM:617731 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:narrowMatch OMIM:618347 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:narrowMatch OMIM:618348 semapv:UnspecifiedMatching +GARD:65 Galloway-Mowat syndrome skos:narrowMatch OMIM:618349 semapv:UnspecifiedMatching +GARD:6500 Giant axonal neuropathy skos:exactMatch Orphanet:643 semapv:UnspecifiedMatching +GARD:6500 Giant axonal neuropathy skos:narrowMatch OMIM:256850 semapv:UnspecifiedMatching +GARD:6506 Pituitary gigantism skos:exactMatch Orphanet:99725 semapv:UnspecifiedMatching +GARD:6506 Pituitary gigantism skos:narrowMatch OMIM:102200 semapv:UnspecifiedMatching +GARD:6509 Fibromatosis, gingival, 1 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +GARD:6509 Fibromatosis, gingival, 1 skos:exactMatch OMIM:135300 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:exactMatch Orphanet:182067 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:narrowMatch OMIM:607248 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:narrowMatch OMIM:613028 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:narrowMatch OMIM:613029 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:narrowMatch OMIM:613030 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:narrowMatch OMIM:613031 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:narrowMatch OMIM:613032 semapv:UnspecifiedMatching +GARD:6513 Glial tumor skos:narrowMatch OMIM:613033 semapv:UnspecifiedMatching +GARD:6514 Gliomatosis cerebri skos:exactMatch Orphanet:251582 semapv:UnspecifiedMatching +GARD:6519 Glossopharyngeal neuralgia skos:exactMatch Orphanet:221098 semapv:UnspecifiedMatching +GARD:6520 Class I glucose-6-phosphate dehydrogenase deficiency skos:exactMatch Orphanet:466026 semapv:UnspecifiedMatching +GARD:6520 Class I glucose-6-phosphate dehydrogenase deficiency skos:narrowMatch OMIM:300908 semapv:UnspecifiedMatching +GARD:6521 Glucose-galactose malabsorption skos:exactMatch Orphanet:35710 semapv:UnspecifiedMatching +GARD:6521 Glucose-galactose malabsorption skos:narrowMatch OMIM:606824 semapv:UnspecifiedMatching +GARD:6522 Glutaryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:25 semapv:UnspecifiedMatching +GARD:6522 Glutaryl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:231670 semapv:UnspecifiedMatching +GARD:6523 Multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26791 semapv:UnspecifiedMatching +GARD:6523 Multiple acyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:231680 semapv:UnspecifiedMatching +GARD:6528 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:exactMatch Orphanet:368 semapv:UnspecifiedMatching +GARD:6528 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:narrowMatch OMIM:232600 semapv:UnspecifiedMatching +GARD:6529 Glycogen storage disease due to liver glycogen phosphorylase deficiency skos:exactMatch Orphanet:369 semapv:UnspecifiedMatching +GARD:6529 Glycogen storage disease due to liver glycogen phosphorylase deficiency skos:narrowMatch OMIM:232700 semapv:UnspecifiedMatching +GARD:654 Beta-mercaptolactate cysteine disulfiduria skos:exactMatch Orphanet:1035 semapv:UnspecifiedMatching +GARD:654 Beta-mercaptolactate cysteine disulfiduria skos:narrowMatch OMIM:249650 semapv:UnspecifiedMatching +GARD:6542 Gorham-Stout disease skos:exactMatch Orphanet:73 semapv:UnspecifiedMatching +GARD:6542 Gorham-Stout disease skos:narrowMatch OMIM:123880 semapv:UnspecifiedMatching +GARD:6543 Acrogeria skos:exactMatch Orphanet:2500 semapv:UnspecifiedMatching +GARD:6543 Acrogeria skos:narrowMatch OMIM:201200 semapv:UnspecifiedMatching +GARD:6544 Acute graft versus host disease skos:exactMatch Orphanet:99920 semapv:UnspecifiedMatching +GARD:6550 Greig cephalopolysyndactyly syndrome skos:exactMatch Orphanet:380 semapv:UnspecifiedMatching +GARD:6550 Greig cephalopolysyndactyly syndrome skos:narrowMatch OMIM:175700 semapv:UnspecifiedMatching +GARD:6554 Guillain-Barré syndrome skos:exactMatch Orphanet:2103 semapv:UnspecifiedMatching +GARD:6556 Gyrate atrophy of choroid and retina skos:exactMatch Orphanet:414 semapv:UnspecifiedMatching +GARD:6556 Gyrate atrophy of choroid and retina skos:narrowMatch OMIM:258870 semapv:UnspecifiedMatching +GARD:6558 Congenital factor XII deficiency skos:exactMatch Orphanet:330 semapv:UnspecifiedMatching +GARD:6558 Congenital factor XII deficiency skos:narrowMatch OMIM:234000 semapv:UnspecifiedMatching +GARD:6559 Familial benign chronic pemphigus skos:exactMatch Orphanet:2841 semapv:UnspecifiedMatching +GARD:6559 Familial benign chronic pemphigus skos:narrowMatch OMIM:169600 semapv:UnspecifiedMatching +GARD:6560 Classic hairy cell leukemia skos:exactMatch Orphanet:58017 semapv:UnspecifiedMatching +GARD:6564 Pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:157850 semapv:UnspecifiedMatching +GARD:6564 Pantothenate kinase-associated neurodegeneration skos:narrowMatch OMIM:234200 semapv:UnspecifiedMatching +GARD:6568 Harlequin ichthyosis skos:exactMatch Orphanet:457 semapv:UnspecifiedMatching +GARD:6568 Harlequin ichthyosis skos:narrowMatch OMIM:242500 semapv:UnspecifiedMatching +GARD:6569 Hartnup disease skos:exactMatch Orphanet:2116 semapv:UnspecifiedMatching +GARD:6569 Hartnup disease skos:narrowMatch OMIM:234500 semapv:UnspecifiedMatching +GARD:6571 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch Orphanet:1071 semapv:UnspecifiedMatching +GARD:6571 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:narrowMatch OMIM:106260 semapv:UnspecifiedMatching +GARD:6584 Sickle cell-hemoglobin C disease syndrome skos:exactMatch Orphanet:251365 semapv:UnspecifiedMatching +GARD:6588 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch Orphanet:90038 semapv:UnspecifiedMatching +GARD:6588 Shiga toxin-associated hemolytic uremic syndrome skos:narrowMatch OMIM:235400 semapv:UnspecifiedMatching +GARD:6589 Familial hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +GARD:6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:267700 semapv:UnspecifiedMatching +GARD:6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:603552 semapv:UnspecifiedMatching +GARD:6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:603553 semapv:UnspecifiedMatching +GARD:6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:608898 semapv:UnspecifiedMatching +GARD:6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:613101 semapv:UnspecifiedMatching +GARD:6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:618998 semapv:UnspecifiedMatching +GARD:6591 Hemophilia A skos:exactMatch Orphanet:98878 semapv:UnspecifiedMatching +GARD:6591 Hemophilia A skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +GARD:6594 Essential thrombocythemia skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching +GARD:6594 Essential thrombocythemia skos:narrowMatch OMIM:187950 semapv:UnspecifiedMatching +GARD:6594 Essential thrombocythemia skos:narrowMatch OMIM:601977 semapv:UnspecifiedMatching +GARD:6594 Essential thrombocythemia skos:narrowMatch OMIM:614521 semapv:UnspecifiedMatching +GARD:66 Gorlin-Chaudhry-Moss syndrome skos:exactMatch Orphanet:2095 semapv:UnspecifiedMatching +GARD:66 Gorlin-Chaudhry-Moss syndrome skos:narrowMatch OMIM:612289 semapv:UnspecifiedMatching +GARD:6608 Adult hepatocellular carcinoma skos:exactMatch Orphanet:210159 semapv:UnspecifiedMatching +GARD:6608 Adult hepatocellular carcinoma skos:narrowMatch OMIM:114550 semapv:UnspecifiedMatching +GARD:6611 Hereditary amyloidosis skos:exactMatch Orphanet:444116 semapv:UnspecifiedMatching +GARD:6618 CLN9 disease skos:exactMatch Orphanet:228357 semapv:UnspecifiedMatching +GARD:6618 CLN9 disease skos:narrowMatch OMIM:609055 semapv:UnspecifiedMatching +GARD:6619 Hereditary coproporphyria skos:exactMatch Orphanet:79273 semapv:UnspecifiedMatching +GARD:6619 Hereditary coproporphyria skos:narrowMatch OMIM:121300 semapv:UnspecifiedMatching +GARD:6621 Hereditary elliptocytosis skos:exactMatch Orphanet:288 semapv:UnspecifiedMatching +GARD:6621 Hereditary elliptocytosis skos:narrowMatch OMIM:130600 semapv:UnspecifiedMatching +GARD:6621 Hereditary elliptocytosis skos:narrowMatch OMIM:235370 semapv:UnspecifiedMatching +GARD:6621 Hereditary elliptocytosis skos:narrowMatch OMIM:611804 semapv:UnspecifiedMatching +GARD:6621 Hereditary elliptocytosis skos:narrowMatch OMIM:617948 semapv:UnspecifiedMatching +GARD:6622 Hereditary fructose intolerance skos:exactMatch Orphanet:469 semapv:UnspecifiedMatching +GARD:6622 Hereditary fructose intolerance skos:narrowMatch OMIM:229600 semapv:UnspecifiedMatching +GARD:6626 Hereditary hemorrhagic telangiectasia skos:exactMatch Orphanet:774 semapv:UnspecifiedMatching +GARD:6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:187300 semapv:UnspecifiedMatching +GARD:6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:600376 semapv:UnspecifiedMatching +GARD:6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:601101 semapv:UnspecifiedMatching +GARD:6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:610655 semapv:UnspecifiedMatching +GARD:6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:615506 semapv:UnspecifiedMatching +GARD:6632 Hereditary chronic pancreatitis skos:exactMatch Orphanet:676 semapv:UnspecifiedMatching +GARD:6632 Hereditary chronic pancreatitis skos:narrowMatch OMIM:167800 semapv:UnspecifiedMatching +GARD:6635 Hereditary sensory and autonomic neuropathy type 1 skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching +GARD:6635 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:162400 semapv:UnspecifiedMatching +GARD:6635 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:613640 semapv:UnspecifiedMatching +GARD:6635 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:613708 semapv:UnspecifiedMatching +GARD:6635 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:615632 semapv:UnspecifiedMatching +GARD:6637 Hereditary spastic paraplegia skos:exactMatch Orphanet:685 semapv:UnspecifiedMatching +GARD:6639 Hereditary spherocytosis skos:exactMatch Orphanet:822 semapv:UnspecifiedMatching +GARD:6639 Hereditary spherocytosis skos:narrowMatch OMIM:182900 semapv:UnspecifiedMatching +GARD:6639 Hereditary spherocytosis skos:narrowMatch OMIM:270970 semapv:UnspecifiedMatching +GARD:6639 Hereditary spherocytosis skos:narrowMatch OMIM:612653 semapv:UnspecifiedMatching +GARD:6639 Hereditary spherocytosis skos:narrowMatch OMIM:612690 semapv:UnspecifiedMatching +GARD:6639 Hereditary spherocytosis skos:narrowMatch OMIM:616649 semapv:UnspecifiedMatching +GARD:664 Anaplastic thyroid carcinoma skos:exactMatch Orphanet:142 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:203300 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:608233 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614072 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614073 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614074 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614075 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614076 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614077 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614171 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:617050 semapv:UnspecifiedMatching +GARD:6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:619172 semapv:UnspecifiedMatching +GARD:6649 Herpes simplex virus encephalitis skos:exactMatch Orphanet:1930 semapv:UnspecifiedMatching +GARD:6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:610551 semapv:UnspecifiedMatching +GARD:6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:613002 semapv:UnspecifiedMatching +GARD:6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:614849 semapv:UnspecifiedMatching +GARD:6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:614850 semapv:UnspecifiedMatching +GARD:6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:616532 semapv:UnspecifiedMatching +GARD:6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:617900 semapv:UnspecifiedMatching +GARD:6657 Chronic hiccup skos:exactMatch Orphanet:396 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:exactMatch Orphanet:388 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:142623 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:600155 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:600156 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:606874 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:606875 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:608462 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:611644 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:613711 semapv:UnspecifiedMatching +GARD:6660 Hirschsprung disease skos:narrowMatch OMIM:613712 semapv:UnspecifiedMatching +GARD:6661 Histidinemia skos:exactMatch Orphanet:2157 semapv:UnspecifiedMatching +GARD:6661 Histidinemia skos:narrowMatch OMIM:235800 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:exactMatch Orphanet:2162 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:142945 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:142946 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:147250 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:236100 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:605934 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:609408 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:610828 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:612530 semapv:UnspecifiedMatching +GARD:6665 Holoprosencephaly skos:narrowMatch OMIM:614226 semapv:UnspecifiedMatching +GARD:6666 Holt-Oram syndrome skos:exactMatch Orphanet:392 semapv:UnspecifiedMatching +GARD:6666 Holt-Oram syndrome skos:narrowMatch OMIM:142900 semapv:UnspecifiedMatching +GARD:6667 Classic homocystinuria skos:exactMatch Orphanet:394 semapv:UnspecifiedMatching +GARD:6667 Classic homocystinuria skos:narrowMatch OMIM:236200 semapv:UnspecifiedMatching +GARD:6670 Congenital Horner syndrome skos:exactMatch Orphanet:91413 semapv:UnspecifiedMatching +GARD:6670 Congenital Horner syndrome skos:narrowMatch OMIM:143000 semapv:UnspecifiedMatching +GARD:6675 Mucopolysaccharidosis type 2 skos:exactMatch Orphanet:580 semapv:UnspecifiedMatching +GARD:6675 Mucopolysaccharidosis type 2 skos:narrowMatch OMIM:309900 semapv:UnspecifiedMatching +GARD:6677 Huntington disease skos:exactMatch Orphanet:399 semapv:UnspecifiedMatching +GARD:6677 Huntington disease skos:narrowMatch OMIM:143100 semapv:UnspecifiedMatching +GARD:668 X-linked sideroblastic anemia and spinocerebellar ataxia skos:exactMatch Orphanet:2802 semapv:UnspecifiedMatching +GARD:668 X-linked sideroblastic anemia and spinocerebellar ataxia skos:narrowMatch OMIM:301310 semapv:UnspecifiedMatching +GARD:6681 Hydranencephaly skos:exactMatch Orphanet:2177 semapv:UnspecifiedMatching +GARD:6682 Congenital hydrocephalus skos:exactMatch Orphanet:2185 semapv:UnspecifiedMatching +GARD:6682 Congenital hydrocephalus skos:narrowMatch OMIM:236600 semapv:UnspecifiedMatching +GARD:6682 Congenital hydrocephalus skos:narrowMatch OMIM:615219 semapv:UnspecifiedMatching +GARD:6683 Hydrolethalus skos:exactMatch Orphanet:2189 semapv:UnspecifiedMatching +GARD:6683 Hydrolethalus skos:narrowMatch OMIM:236680 semapv:UnspecifiedMatching +GARD:6683 Hydrolethalus skos:narrowMatch OMIM:614120 semapv:UnspecifiedMatching +GARD:670 Aneurysm of sinus of Valsalva skos:exactMatch Orphanet:1054 semapv:UnspecifiedMatching +GARD:6703 Dysbetalipoproteinemia skos:exactMatch Orphanet:412 semapv:UnspecifiedMatching +GARD:6703 Dysbetalipoproteinemia skos:narrowMatch OMIM:617347 semapv:UnspecifiedMatching +GARD:6704 Familial apolipoprotein A5 deficiency skos:exactMatch Orphanet:530849 semapv:UnspecifiedMatching +GARD:6704 Familial apolipoprotein A5 deficiency skos:narrowMatch OMIM:144650 semapv:UnspecifiedMatching +GARD:671 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch Orphanet:63442 semapv:UnspecifiedMatching +GARD:671 Angel-shaped phalango-epiphyseal dysplasia skos:narrowMatch OMIM:105835 semapv:UnspecifiedMatching +GARD:6710 Hyperprolinemia type 2 skos:exactMatch Orphanet:79101 semapv:UnspecifiedMatching +GARD:6710 Hyperprolinemia type 2 skos:narrowMatch OMIM:239510 semapv:UnspecifiedMatching +GARD:6724 Hypochondroplasia skos:exactMatch Orphanet:429 semapv:UnspecifiedMatching +GARD:6724 Hypochondroplasia skos:narrowMatch OMIM:146000 semapv:UnspecifiedMatching +GARD:6725 Hypocomplementemic urticarial vasculitis skos:exactMatch Orphanet:36412 semapv:UnspecifiedMatching +GARD:6729 Hypokalemic periodic paralysis skos:exactMatch Orphanet:681 semapv:UnspecifiedMatching +GARD:6729 Hypokalemic periodic paralysis skos:narrowMatch OMIM:170400 semapv:UnspecifiedMatching +GARD:6729 Hypokalemic periodic paralysis skos:narrowMatch OMIM:613345 semapv:UnspecifiedMatching +GARD:6734 Hypophosphatasia skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching +GARD:6734 Hypophosphatasia skos:narrowMatch OMIM:146300 semapv:UnspecifiedMatching +GARD:6734 Hypophosphatasia skos:narrowMatch OMIM:241500 semapv:UnspecifiedMatching +GARD:6734 Hypophosphatasia skos:narrowMatch OMIM:241510 semapv:UnspecifiedMatching +GARD:6735 Hypophosphatemic rickets skos:exactMatch Orphanet:437 semapv:UnspecifiedMatching +GARD:6737 Panhypopituitarism, x-linked skos:broadMatch Orphanet:90695 semapv:UnspecifiedMatching +GARD:6737 Panhypopituitarism, x-linked skos:exactMatch OMIM:312000 semapv:UnspecifiedMatching +GARD:6739 Hypoplastic left heart syndrome skos:exactMatch Orphanet:2248 semapv:UnspecifiedMatching +GARD:6739 Hypoplastic left heart syndrome skos:narrowMatch OMIM:241550 semapv:UnspecifiedMatching +GARD:6739 Hypoplastic left heart syndrome skos:narrowMatch OMIM:614435 semapv:UnspecifiedMatching +GARD:6749 Mucolipidosis type II skos:exactMatch Orphanet:576 semapv:UnspecifiedMatching +GARD:6749 Mucolipidosis type II skos:narrowMatch OMIM:252500 semapv:UnspecifiedMatching +GARD:6757 Idiopathic pulmonary artery dilatation skos:exactMatch Orphanet:1676 semapv:UnspecifiedMatching +GARD:676 Hereditary neurocutaneous malformation skos:exactMatch Orphanet:1062 semapv:UnspecifiedMatching +GARD:676 Hereditary neurocutaneous malformation skos:narrowMatch OMIM:106070 semapv:UnspecifiedMatching +GARD:6760 Idiopathic juvenile osteoporosis skos:exactMatch Orphanet:85193 semapv:UnspecifiedMatching +GARD:6760 Idiopathic juvenile osteoporosis skos:narrowMatch OMIM:259750 semapv:UnspecifiedMatching +GARD:6760 Idiopathic juvenile osteoporosis skos:narrowMatch OMIM:615221 semapv:UnspecifiedMatching +GARD:6763 Idiopathic pulmonary hemosiderosis skos:exactMatch Orphanet:99931 semapv:UnspecifiedMatching +GARD:6763 Idiopathic pulmonary hemosiderosis skos:narrowMatch OMIM:178550 semapv:UnspecifiedMatching +GARD:6763 Idiopathic pulmonary hemosiderosis skos:narrowMatch OMIM:235500 semapv:UnspecifiedMatching +GARD:6778 Incontinentia pigmenti skos:exactMatch Orphanet:464 semapv:UnspecifiedMatching +GARD:6778 Incontinentia pigmenti skos:narrowMatch OMIM:308300 semapv:UnspecifiedMatching +GARD:6779 Infantile apnea skos:exactMatch Orphanet:70590 semapv:UnspecifiedMatching +GARD:6791 Fuchs heterochromic iridocyclitis skos:exactMatch Orphanet:263479 semapv:UnspecifiedMatching +GARD:6793 Isaacs syndrome skos:exactMatch Orphanet:84142 semapv:UnspecifiedMatching +GARD:6795 Right sided atrial isomerism skos:exactMatch Orphanet:97548 semapv:UnspecifiedMatching +GARD:6795 Right sided atrial isomerism skos:narrowMatch OMIM:208530 semapv:UnspecifiedMatching +GARD:6796 Jackson-Weiss syndrome skos:exactMatch Orphanet:1540 semapv:UnspecifiedMatching +GARD:6796 Jackson-Weiss syndrome skos:narrowMatch OMIM:123150 semapv:UnspecifiedMatching +GARD:6797 Japanese encephalitis skos:exactMatch Orphanet:79139 semapv:UnspecifiedMatching +GARD:6798 Autosomal recessive spondylocostal dysostosis skos:exactMatch Orphanet:2311 semapv:UnspecifiedMatching +GARD:6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:277300 semapv:UnspecifiedMatching +GARD:6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:608681 semapv:UnspecifiedMatching +GARD:6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:609813 semapv:UnspecifiedMatching +GARD:6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:613686 semapv:UnspecifiedMatching +GARD:6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:616566 semapv:UnspecifiedMatching +GARD:68 Hypoglossia-hypodactyly syndrome skos:exactMatch Orphanet:989 semapv:UnspecifiedMatching +GARD:68 Hypoglossia-hypodactyly syndrome skos:narrowMatch OMIM:103300 semapv:UnspecifiedMatching +GARD:6800 Autosomal dominant hyper-IgE syndrome skos:exactMatch Orphanet:2314 semapv:UnspecifiedMatching +GARD:6800 Autosomal dominant hyper-IgE syndrome skos:narrowMatch OMIM:147060 semapv:UnspecifiedMatching +GARD:6801 Spinocerebellar ataxia type 3 skos:exactMatch Orphanet:98757 semapv:UnspecifiedMatching +GARD:6801 Spinocerebellar ataxia type 3 skos:narrowMatch OMIM:109150 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:213300 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:610688 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:612291 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:614173 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:614424 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:614464 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:614615 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:614970 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:615636 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:616490 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:616654 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:616781 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:616784 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:617120 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:617121 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:617622 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:617761 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:618161 semapv:UnspecifiedMatching +GARD:6802 Joubert syndrome skos:narrowMatch OMIM:619185 semapv:UnspecifiedMatching +GARD:6805 Juvenile dermatomyositis skos:exactMatch Orphanet:93672 semapv:UnspecifiedMatching +GARD:6807 Infantile systemic hyalinosis skos:exactMatch Orphanet:2176 semapv:UnspecifiedMatching +GARD:6807 Infantile systemic hyalinosis skos:narrowMatch OMIM:228600 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:exactMatch Orphanet:307 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:254770 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:604827 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:607628 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:607682 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:608816 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:611136 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:611364 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:613060 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:614280 semapv:UnspecifiedMatching +GARD:6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:617924 semapv:UnspecifiedMatching +GARD:6810 Kabuki syndrome skos:exactMatch Orphanet:2322 semapv:UnspecifiedMatching +GARD:6810 Kabuki syndrome skos:narrowMatch OMIM:147920 semapv:UnspecifiedMatching +GARD:6810 Kabuki syndrome skos:narrowMatch OMIM:300867 semapv:UnspecifiedMatching +GARD:6814 Kaposi sarcoma skos:exactMatch Orphanet:33276 semapv:UnspecifiedMatching +GARD:6814 Kaposi sarcoma skos:narrowMatch OMIM:148000 semapv:UnspecifiedMatching +GARD:6816 Kawasaki disease skos:exactMatch Orphanet:2331 semapv:UnspecifiedMatching +GARD:6816 Kawasaki disease skos:narrowMatch OMIM:611775 semapv:UnspecifiedMatching +GARD:6817 Kearns-Sayre syndrome skos:exactMatch Orphanet:480 semapv:UnspecifiedMatching +GARD:6817 Kearns-Sayre syndrome skos:narrowMatch OMIM:530000 semapv:UnspecifiedMatching +GARD:6818 Kennedy disease skos:exactMatch Orphanet:481 semapv:UnspecifiedMatching +GARD:6818 Kennedy disease skos:narrowMatch OMIM:313200 semapv:UnspecifiedMatching +GARD:6821 Muir-Torre syndrome skos:exactMatch Orphanet:587 semapv:UnspecifiedMatching +GARD:6821 Muir-Torre syndrome skos:narrowMatch OMIM:158320 semapv:UnspecifiedMatching +GARD:6829 Keratosis follicularis spinulosa decalvans skos:exactMatch Orphanet:2340 semapv:UnspecifiedMatching +GARD:6829 Keratosis follicularis spinulosa decalvans skos:narrowMatch OMIM:308800 semapv:UnspecifiedMatching +GARD:6829 Keratosis follicularis spinulosa decalvans skos:narrowMatch OMIM:604093 semapv:UnspecifiedMatching +GARD:6829 Keratosis follicularis spinulosa decalvans skos:narrowMatch OMIM:612843 semapv:UnspecifiedMatching +GARD:683 Angiostrongyliasis skos:exactMatch Orphanet:74 semapv:UnspecifiedMatching +GARD:6830 Bilirubin encephalopathy skos:exactMatch Orphanet:415286 semapv:UnspecifiedMatching +GARD:6834 Kikuchi-Fujimoto disease skos:exactMatch Orphanet:50918 semapv:UnspecifiedMatching +GARD:6835 Kimura disease skos:exactMatch Orphanet:482 semapv:UnspecifiedMatching +GARD:6840 Klüver-Bucy syndrome skos:exactMatch Orphanet:157823 semapv:UnspecifiedMatching +GARD:6841 Kniest dysplasia skos:exactMatch Orphanet:485 semapv:UnspecifiedMatching +GARD:6841 Kniest dysplasia skos:narrowMatch OMIM:156550 semapv:UnspecifiedMatching +GARD:6842 Osteochondrosis of the tarsal bone skos:exactMatch Orphanet:563991 semapv:UnspecifiedMatching +GARD:6844 Krabbe disease skos:exactMatch Orphanet:487 semapv:UnspecifiedMatching +GARD:6844 Krabbe disease skos:narrowMatch OMIM:245200 semapv:UnspecifiedMatching +GARD:6844 Krabbe disease skos:narrowMatch OMIM:611722 semapv:UnspecifiedMatching +GARD:6845 CLN4A disease skos:exactMatch Orphanet:228340 semapv:UnspecifiedMatching +GARD:6845 CLN4A disease skos:narrowMatch OMIM:204300 semapv:UnspecifiedMatching +GARD:6848 Lacrimoauriculodentodigital syndrome skos:exactMatch Orphanet:2363 semapv:UnspecifiedMatching +GARD:6848 Lacrimoauriculodentodigital syndrome skos:narrowMatch OMIM:149730 semapv:UnspecifiedMatching +GARD:685 Aniridia-absent patella syndrome skos:exactMatch Orphanet:1069 semapv:UnspecifiedMatching +GARD:685 Aniridia-absent patella syndrome skos:narrowMatch OMIM:106220 semapv:UnspecifiedMatching +GARD:6851 Lambert-Eaton myasthenic syndrome skos:exactMatch Orphanet:43393 semapv:UnspecifiedMatching +GARD:6855 Landau-Kleffner syndrome skos:exactMatch Orphanet:98818 semapv:UnspecifiedMatching +GARD:6855 Landau-Kleffner syndrome skos:narrowMatch OMIM:245570 semapv:UnspecifiedMatching +GARD:6858 Langerhans cell histiocytosis skos:exactMatch Orphanet:389 semapv:UnspecifiedMatching +GARD:6858 Langerhans cell histiocytosis skos:narrowMatch OMIM:604856 semapv:UnspecifiedMatching +GARD:6859 Laron syndrome skos:exactMatch Orphanet:633 semapv:UnspecifiedMatching +GARD:6859 Laron syndrome skos:narrowMatch OMIM:262500 semapv:UnspecifiedMatching +GARD:6860 Larsen syndrome skos:exactMatch Orphanet:503 semapv:UnspecifiedMatching +GARD:6860 Larsen syndrome skos:narrowMatch OMIM:150250 semapv:UnspecifiedMatching +GARD:6865 Congenital laryngomalacia skos:exactMatch Orphanet:2373 semapv:UnspecifiedMatching +GARD:6865 Congenital laryngomalacia skos:narrowMatch OMIM:150280 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:209900 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:600151 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:605231 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615981 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615982 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615983 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615984 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615985 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615986 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615987 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615988 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615989 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615990 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615991 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615992 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615993 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615994 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615995 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615996 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:617119 semapv:UnspecifiedMatching +GARD:6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:617406 semapv:UnspecifiedMatching +GARD:6867 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:5 semapv:UnspecifiedMatching +GARD:6867 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:609016 semapv:UnspecifiedMatching +GARD:6870 Leber hereditary optic neuropathy skos:exactMatch Orphanet:104 semapv:UnspecifiedMatching +GARD:6870 Leber hereditary optic neuropathy skos:narrowMatch OMIM:308905 semapv:UnspecifiedMatching +GARD:6870 Leber hereditary optic neuropathy skos:narrowMatch OMIM:535000 semapv:UnspecifiedMatching +GARD:6873 Ledderhose disease skos:exactMatch Orphanet:199251 semapv:UnspecifiedMatching +GARD:6874 Legg-Calvé-Perthes disease skos:exactMatch Orphanet:2380 semapv:UnspecifiedMatching +GARD:6874 Legg-Calvé-Perthes disease skos:narrowMatch OMIM:150600 semapv:UnspecifiedMatching +GARD:6876 Legionnaires disease skos:exactMatch Orphanet:549 semapv:UnspecifiedMatching +GARD:6877 Leigh syndrome skos:exactMatch Orphanet:506 semapv:UnspecifiedMatching +GARD:6877 Leigh syndrome skos:narrowMatch OMIM:256000 semapv:UnspecifiedMatching +GARD:6878 Erythroderma desquamativum skos:exactMatch Orphanet:314 semapv:UnspecifiedMatching +GARD:6878 Erythroderma desquamativum skos:narrowMatch OMIM:609536 semapv:UnspecifiedMatching +GARD:6880 Leiomyosarcoma skos:exactMatch Orphanet:64720 semapv:UnspecifiedMatching +GARD:6881 Leishmaniasis skos:exactMatch Orphanet:507 semapv:UnspecifiedMatching +GARD:6881 Leishmaniasis skos:narrowMatch OMIM:608207 semapv:UnspecifiedMatching +GARD:6882 Lemierre syndrome skos:exactMatch Orphanet:137839 semapv:UnspecifiedMatching +GARD:6885 Leprechaunism skos:exactMatch Orphanet:508 semapv:UnspecifiedMatching +GARD:6885 Leprechaunism skos:narrowMatch OMIM:246200 semapv:UnspecifiedMatching +GARD:6886 Leprosy skos:exactMatch Orphanet:548 semapv:UnspecifiedMatching +GARD:6886 Leprosy skos:narrowMatch OMIM:246300 semapv:UnspecifiedMatching +GARD:6886 Leprosy skos:narrowMatch OMIM:607572 semapv:UnspecifiedMatching +GARD:6886 Leprosy skos:narrowMatch OMIM:609888 semapv:UnspecifiedMatching +GARD:6886 Leprosy skos:narrowMatch OMIM:610988 semapv:UnspecifiedMatching +GARD:6886 Leprosy skos:narrowMatch OMIM:613223 semapv:UnspecifiedMatching +GARD:6886 Leprosy skos:narrowMatch OMIM:613407 semapv:UnspecifiedMatching +GARD:689 Aniridia-ptosis-intellectual disability-familial obesity syndrome skos:exactMatch Orphanet:1067 semapv:UnspecifiedMatching +GARD:6893 Leukocyte adhesion deficiency type I skos:exactMatch Orphanet:99842 semapv:UnspecifiedMatching +GARD:6893 Leukocyte adhesion deficiency type I skos:narrowMatch OMIM:116920 semapv:UnspecifiedMatching +GARD:6895 Leukodystrophy skos:exactMatch Orphanet:68356 semapv:UnspecifiedMatching +GARD:69 Hantavirus pulmonary syndrome skos:exactMatch Orphanet:319247 semapv:UnspecifiedMatching +GARD:690 Aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch Orphanet:1064 semapv:UnspecifiedMatching +GARD:690 Aniridia-renal agenesis-psychomotor retardation syndrome skos:narrowMatch OMIM:206750 semapv:UnspecifiedMatching +GARD:6901 Lhermitte-Duclos disease skos:exactMatch Orphanet:65285 semapv:UnspecifiedMatching +GARD:6901 Lhermitte-Duclos disease skos:narrowMatch OMIM:158350 semapv:UnspecifiedMatching +GARD:6902 Li-Fraumeni syndrome skos:exactMatch Orphanet:524 semapv:UnspecifiedMatching +GARD:6902 Li-Fraumeni syndrome skos:narrowMatch OMIM:151623 semapv:UnspecifiedMatching +GARD:6902 Li-Fraumeni syndrome skos:narrowMatch OMIM:609265 semapv:UnspecifiedMatching +GARD:6906 Light chain deposition disease skos:exactMatch Orphanet:93558 semapv:UnspecifiedMatching +GARD:6907 Limb-girdle muscular dystrophy skos:exactMatch Orphanet:263 semapv:UnspecifiedMatching +GARD:6913 Liposarcoma skos:exactMatch Orphanet:69078 semapv:UnspecifiedMatching +GARD:6913 Liposarcoma skos:narrowMatch OMIM:613488 semapv:UnspecifiedMatching +GARD:6914 Lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch Orphanet:2148 semapv:UnspecifiedMatching +GARD:6914 Lissencephaly type 1 due to doublecortin gene mutation skos:narrowMatch OMIM:300067 semapv:UnspecifiedMatching +GARD:6915 Listeriosis skos:exactMatch Orphanet:533 semapv:UnspecifiedMatching +GARD:6919 Locked-in syndrome skos:exactMatch Orphanet:2406 semapv:UnspecifiedMatching +GARD:693 Anisakiasis skos:exactMatch Orphanet:1070 semapv:UnspecifiedMatching +GARD:6940 Jessner lymphocytic infiltration of the skin skos:exactMatch Orphanet:33314 semapv:UnspecifiedMatching +GARD:6943 Lymphomatoid granulomatosis skos:exactMatch Orphanet:86869 semapv:UnspecifiedMatching +GARD:6944 Lymphomatoid papulosis skos:exactMatch Orphanet:98842 semapv:UnspecifiedMatching +GARD:6950 Megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 semapv:UnspecifiedMatching +GARD:6950 Megalencephaly-capillary malformation-polymicrogyria syndrome skos:narrowMatch OMIM:602501 semapv:UnspecifiedMatching +GARD:6951 Macrodactyly of toes skos:exactMatch Orphanet:295047 semapv:UnspecifiedMatching +GARD:6953 Macular corneal dystrophy skos:exactMatch Orphanet:98969 semapv:UnspecifiedMatching +GARD:6953 Macular corneal dystrophy skos:narrowMatch OMIM:217800 semapv:UnspecifiedMatching +GARD:6956 Sporadic Creutzfeldt-Jakob disease skos:exactMatch Orphanet:204 semapv:UnspecifiedMatching +GARD:6956 Sporadic Creutzfeldt-Jakob disease skos:narrowMatch OMIM:123400 semapv:UnspecifiedMatching +GARD:6957 Multiple symmetric lipomatosis skos:exactMatch Orphanet:2398 semapv:UnspecifiedMatching +GARD:6957 Multiple symmetric lipomatosis skos:narrowMatch OMIM:151800 semapv:UnspecifiedMatching +GARD:6958 Maffucci syndrome skos:exactMatch Orphanet:163634 semapv:UnspecifiedMatching +GARD:6958 Maffucci syndrome skos:narrowMatch OMIM:614569 semapv:UnspecifiedMatching +GARD:6959 Mal de débarquement skos:exactMatch Orphanet:210272 semapv:UnspecifiedMatching +GARD:696 Ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch Orphanet:1072 semapv:UnspecifiedMatching +GARD:696 Ankyloblepharon filiforme adnatum-cleft palate syndrome skos:narrowMatch OMIM:106250 semapv:UnspecifiedMatching +GARD:6960 Malakoplakia skos:exactMatch Orphanet:556 semapv:UnspecifiedMatching +GARD:6961 Malaria skos:exactMatch Orphanet:673 semapv:UnspecifiedMatching +GARD:6961 Malaria skos:narrowMatch OMIM:611162 semapv:UnspecifiedMatching +GARD:6963 Undifferentiated pleomorphic sarcoma skos:exactMatch Orphanet:2023 semapv:UnspecifiedMatching +GARD:6964 Malignant hyperthermia of anesthesia skos:exactMatch Orphanet:423 semapv:UnspecifiedMatching +GARD:6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:145600 semapv:UnspecifiedMatching +GARD:6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:154275 semapv:UnspecifiedMatching +GARD:6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:154276 semapv:UnspecifiedMatching +GARD:6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:600467 semapv:UnspecifiedMatching +GARD:6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:601887 semapv:UnspecifiedMatching +GARD:6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:601888 semapv:UnspecifiedMatching +GARD:6968 Alpha-mannosidosis skos:exactMatch Orphanet:61 semapv:UnspecifiedMatching +GARD:6968 Alpha-mannosidosis skos:narrowMatch OMIM:248500 semapv:UnspecifiedMatching +GARD:6969 Mantle cell lymphoma skos:exactMatch Orphanet:52416 semapv:UnspecifiedMatching +GARD:697 Ankyloblepharon filiforme adnatum-imperforate anus syndrome skos:exactMatch Orphanet:1074 semapv:UnspecifiedMatching +GARD:6971 Marchiafava-Bignami disease skos:exactMatch Orphanet:221074 semapv:UnspecifiedMatching +GARD:6972 Marcus-Gunn syndrome skos:exactMatch Orphanet:91412 semapv:UnspecifiedMatching +GARD:6972 Marcus-Gunn syndrome skos:narrowMatch OMIM:154600 semapv:UnspecifiedMatching +GARD:6973 Marden-Walker syndrome skos:exactMatch Orphanet:2461 semapv:UnspecifiedMatching +GARD:6973 Marden-Walker syndrome skos:narrowMatch OMIM:248700 semapv:UnspecifiedMatching +GARD:6975 Marfan syndrome type 1 skos:exactMatch Orphanet:284963 semapv:UnspecifiedMatching +GARD:6975 Marfan syndrome type 1 skos:narrowMatch OMIM:154700 semapv:UnspecifiedMatching +GARD:6984 Marshall syndrome skos:exactMatch Orphanet:560 semapv:UnspecifiedMatching +GARD:6984 Marshall syndrome skos:narrowMatch OMIM:154780 semapv:UnspecifiedMatching +GARD:6985 Marshall-Smith syndrome skos:exactMatch Orphanet:561 semapv:UnspecifiedMatching +GARD:6985 Marshall-Smith syndrome skos:narrowMatch OMIM:602535 semapv:UnspecifiedMatching +GARD:6986 MASA syndrome skos:exactMatch Orphanet:2466 semapv:UnspecifiedMatching +GARD:6986 MASA syndrome skos:narrowMatch OMIM:303350 semapv:UnspecifiedMatching +GARD:6987 Mastocytosis skos:exactMatch Orphanet:98292 semapv:UnspecifiedMatching +GARD:6987 Mastocytosis skos:narrowMatch OMIM:154800 semapv:UnspecifiedMatching +GARD:6992 Maxillonasal dysplasia skos:exactMatch Orphanet:1248 semapv:UnspecifiedMatching +GARD:6992 Maxillonasal dysplasia skos:narrowMatch OMIM:155050 semapv:UnspecifiedMatching +GARD:6995 McCune-Albright syndrome skos:exactMatch Orphanet:562 semapv:UnspecifiedMatching +GARD:6995 McCune-Albright syndrome skos:narrowMatch OMIM:174800 semapv:UnspecifiedMatching +GARD:6996 Cartilage-hair hypoplasia skos:exactMatch Orphanet:175 semapv:UnspecifiedMatching +GARD:6996 Cartilage-hair hypoplasia skos:narrowMatch OMIM:250250 semapv:UnspecifiedMatching +GARD:6996 Cartilage-hair hypoplasia skos:narrowMatch OMIM:250460 semapv:UnspecifiedMatching +GARD:7 Acromicric dysplasia skos:exactMatch Orphanet:969 semapv:UnspecifiedMatching +GARD:7 Acromicric dysplasia skos:narrowMatch OMIM:102370 semapv:UnspecifiedMatching +GARD:70 Kasabach-Merritt syndrome skos:exactMatch Orphanet:2330 semapv:UnspecifiedMatching +GARD:70 Kasabach-Merritt syndrome skos:narrowMatch OMIM:141000 semapv:UnspecifiedMatching +GARD:7002 MUC1-related autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:88949 semapv:UnspecifiedMatching +GARD:7002 MUC1-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:174000 semapv:UnspecifiedMatching +GARD:7004 Medullary thyroid carcinoma skos:exactMatch Orphanet:1332 semapv:UnspecifiedMatching +GARD:7005 Medulloblastoma skos:exactMatch Orphanet:616 semapv:UnspecifiedMatching +GARD:7005 Medulloblastoma skos:narrowMatch OMIM:155255 semapv:UnspecifiedMatching +GARD:7006 Imerslund-Gräsbeck syndrome skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching +GARD:7006 Imerslund-Gräsbeck syndrome skos:narrowMatch OMIM:261100 semapv:UnspecifiedMatching +GARD:7006 Imerslund-Gräsbeck syndrome skos:narrowMatch OMIM:618882 semapv:UnspecifiedMatching +GARD:7008 Blepharospasm-oromandibular dystonia syndrome skos:exactMatch Orphanet:93964 semapv:UnspecifiedMatching +GARD:7009 MELAS skos:exactMatch Orphanet:550 semapv:UnspecifiedMatching +GARD:7009 MELAS skos:narrowMatch OMIM:540000 semapv:UnspecifiedMatching +GARD:701 Dental ankylosis skos:exactMatch Orphanet:1077 semapv:UnspecifiedMatching +GARD:7010 Melkersson-Rosenthal syndrome skos:exactMatch Orphanet:2483 semapv:UnspecifiedMatching +GARD:7010 Melkersson-Rosenthal syndrome skos:narrowMatch OMIM:155900 semapv:UnspecifiedMatching +GARD:7011 Melnick-Needles syndrome skos:exactMatch Orphanet:2484 semapv:UnspecifiedMatching +GARD:7011 Melnick-Needles syndrome skos:narrowMatch OMIM:309350 semapv:UnspecifiedMatching +GARD:7015 Meningioma skos:exactMatch Orphanet:2495 semapv:UnspecifiedMatching +GARD:7015 Meningioma skos:narrowMatch OMIM:606190 semapv:UnspecifiedMatching +GARD:7021 Mercury poisoning skos:exactMatch Orphanet:330021 semapv:UnspecifiedMatching +GARD:7026 Pleural mesothelioma skos:exactMatch Orphanet:50251 semapv:UnspecifiedMatching +GARD:7026 Pleural mesothelioma skos:narrowMatch OMIM:156240 semapv:UnspecifiedMatching +GARD:7029 Metaphyseal chondrodysplasia, Schmid type skos:exactMatch Orphanet:174 semapv:UnspecifiedMatching +GARD:7029 Metaphyseal chondrodysplasia, Schmid type skos:narrowMatch OMIM:156500 semapv:UnspecifiedMatching +GARD:7035 Multiple osteochondromas skos:exactMatch Orphanet:321 semapv:UnspecifiedMatching +GARD:7035 Multiple osteochondromas skos:narrowMatch OMIM:133700 semapv:UnspecifiedMatching +GARD:7035 Multiple osteochondromas skos:narrowMatch OMIM:133701 semapv:UnspecifiedMatching +GARD:7035 Multiple osteochondromas skos:narrowMatch OMIM:600209 semapv:UnspecifiedMatching +GARD:7039 Microvillus inclusion disease skos:exactMatch Orphanet:2290 semapv:UnspecifiedMatching +GARD:7039 Microvillus inclusion disease skos:narrowMatch OMIM:251850 semapv:UnspecifiedMatching +GARD:7041 Extranodal nasal NK/T cell lymphoma skos:exactMatch Orphanet:86879 semapv:UnspecifiedMatching +GARD:7043 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch Orphanet:79078 semapv:UnspecifiedMatching +GARD:705 Annular pancreas skos:exactMatch Orphanet:675 semapv:UnspecifiedMatching +GARD:705 Annular pancreas skos:narrowMatch OMIM:167750 semapv:UnspecifiedMatching +GARD:7051 Mixed connective tissue disease skos:exactMatch Orphanet:809 semapv:UnspecifiedMatching +GARD:7058 Localized scleroderma skos:exactMatch Orphanet:90289 semapv:UnspecifiedMatching +GARD:7064 Moyamoya disease skos:exactMatch Orphanet:2573 semapv:UnspecifiedMatching +GARD:7064 Moyamoya disease skos:narrowMatch OMIM:252350 semapv:UnspecifiedMatching +GARD:7064 Moyamoya disease skos:narrowMatch OMIM:607151 semapv:UnspecifiedMatching +GARD:7064 Moyamoya disease skos:narrowMatch OMIM:608796 semapv:UnspecifiedMatching +GARD:7064 Moyamoya disease skos:narrowMatch OMIM:614042 semapv:UnspecifiedMatching +GARD:7065 Mucopolysaccharidosis skos:exactMatch Orphanet:79213 semapv:UnspecifiedMatching +GARD:7071 Sanfilippo syndrome type A skos:exactMatch Orphanet:79269 semapv:UnspecifiedMatching +GARD:7071 Sanfilippo syndrome type A skos:narrowMatch OMIM:252900 semapv:UnspecifiedMatching +GARD:7072 Sanfilippo syndrome type B skos:exactMatch Orphanet:79270 semapv:UnspecifiedMatching +GARD:7072 Sanfilippo syndrome type B skos:narrowMatch OMIM:252920 semapv:UnspecifiedMatching +GARD:7073 Sanfilippo syndrome type C skos:exactMatch Orphanet:79271 semapv:UnspecifiedMatching +GARD:7073 Sanfilippo syndrome type C skos:narrowMatch OMIM:252930 semapv:UnspecifiedMatching +GARD:7074 Sanfilippo syndrome type D skos:exactMatch Orphanet:79272 semapv:UnspecifiedMatching +GARD:7074 Sanfilippo syndrome type D skos:narrowMatch OMIM:252940 semapv:UnspecifiedMatching +GARD:7079 Multiple system atrophy skos:exactMatch Orphanet:102 semapv:UnspecifiedMatching +GARD:7079 Multiple system atrophy skos:narrowMatch OMIM:146500 semapv:UnspecifiedMatching +GARD:7095 Mucopolysaccharidosis type 6 skos:exactMatch Orphanet:583 semapv:UnspecifiedMatching +GARD:7095 Mucopolysaccharidosis type 6 skos:narrowMatch OMIM:253200 semapv:UnspecifiedMatching +GARD:7096 Mucopolysaccharidosis type 7 skos:exactMatch Orphanet:584 semapv:UnspecifiedMatching +GARD:7096 Mucopolysaccharidosis type 7 skos:narrowMatch OMIM:253220 semapv:UnspecifiedMatching +GARD:7097 Muenke syndrome skos:exactMatch Orphanet:53271 semapv:UnspecifiedMatching +GARD:7097 Muenke syndrome skos:narrowMatch OMIM:602849 semapv:UnspecifiedMatching +GARD:710 Anonychia-onychodystrophy syndrome skos:exactMatch Orphanet:90390 semapv:UnspecifiedMatching +GARD:710 Anonychia-onychodystrophy syndrome skos:narrowMatch OMIM:107000 semapv:UnspecifiedMatching +GARD:710 Anonychia-onychodystrophy syndrome skos:narrowMatch OMIM:614149 semapv:UnspecifiedMatching +GARD:7100 Müllerian aplasia skos:exactMatch Orphanet:73217 semapv:UnspecifiedMatching +GARD:7103 Multicentric reticulohistiocytosis skos:exactMatch Orphanet:139436 semapv:UnspecifiedMatching +GARD:7108 Multiple myeloma skos:exactMatch Orphanet:29073 semapv:UnspecifiedMatching +GARD:7108 Multiple myeloma skos:narrowMatch OMIM:254500 semapv:UnspecifiedMatching +GARD:7111 Autosomal recessive multiple pterygium syndrome skos:exactMatch Orphanet:2990 semapv:UnspecifiedMatching +GARD:7111 Autosomal recessive multiple pterygium syndrome skos:narrowMatch OMIM:265000 semapv:UnspecifiedMatching +GARD:7111 Autosomal recessive multiple pterygium syndrome skos:narrowMatch OMIM:618469 semapv:UnspecifiedMatching +GARD:7122 Myasthenia gravis skos:exactMatch Orphanet:589 semapv:UnspecifiedMatching +GARD:7122 Myasthenia gravis skos:narrowMatch OMIM:159400 semapv:UnspecifiedMatching +GARD:7122 Myasthenia gravis skos:narrowMatch OMIM:254200 semapv:UnspecifiedMatching +GARD:7122 Myasthenia gravis skos:narrowMatch OMIM:607085 semapv:UnspecifiedMatching +GARD:713 Matthew-Wood syndrome skos:exactMatch Orphanet:2470 semapv:UnspecifiedMatching +GARD:713 Matthew-Wood syndrome skos:narrowMatch OMIM:601186 semapv:UnspecifiedMatching +GARD:713 Matthew-Wood syndrome skos:narrowMatch OMIM:615524 semapv:UnspecifiedMatching +GARD:7132 Myelodysplastic syndrome skos:exactMatch Orphanet:52688 semapv:UnspecifiedMatching +GARD:7132 Myelodysplastic syndrome skos:narrowMatch OMIM:614286 semapv:UnspecifiedMatching +GARD:7139 Myoclonus-dystonia syndrome skos:exactMatch Orphanet:36899 semapv:UnspecifiedMatching +GARD:7139 Myoclonus-dystonia syndrome skos:narrowMatch OMIM:159900 semapv:UnspecifiedMatching +GARD:7139 Myoclonus-dystonia syndrome skos:narrowMatch OMIM:616398 semapv:UnspecifiedMatching +GARD:7140 Progressive myoclonic epilepsy skos:exactMatch Orphanet:98261 semapv:UnspecifiedMatching +GARD:7144 MERRF skos:exactMatch Orphanet:551 semapv:UnspecifiedMatching +GARD:7144 MERRF skos:narrowMatch OMIM:545000 semapv:UnspecifiedMatching +GARD:7146 Inflammatory myofibroblastic tumor skos:exactMatch Orphanet:178342 semapv:UnspecifiedMatching +GARD:7148 Hyaline body myopathy skos:exactMatch Orphanet:53698 semapv:UnspecifiedMatching +GARD:7148 Hyaline body myopathy skos:narrowMatch OMIM:255160 semapv:UnspecifiedMatching +GARD:7148 Hyaline body myopathy skos:narrowMatch OMIM:608358 semapv:UnspecifiedMatching +GARD:7157 Myxoid/round cell liposarcoma skos:exactMatch Orphanet:99967 semapv:UnspecifiedMatching +GARD:7157 Myxoid/round cell liposarcoma skos:narrowMatch OMIM:613488 semapv:UnspecifiedMatching +GARD:7158 Hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch Orphanet:927 semapv:UnspecifiedMatching +GARD:7158 Hyperammonemia due to N-acetylglutamate synthase deficiency skos:narrowMatch OMIM:237310 semapv:UnspecifiedMatching +GARD:7160 Nail-patella syndrome skos:exactMatch Orphanet:2614 semapv:UnspecifiedMatching +GARD:7160 Nail-patella syndrome skos:narrowMatch OMIM:161200 semapv:UnspecifiedMatching +GARD:7161 Nance-Horan syndrome skos:exactMatch Orphanet:627 semapv:UnspecifiedMatching +GARD:7161 Nance-Horan syndrome skos:narrowMatch OMIM:302350 semapv:UnspecifiedMatching +GARD:7162 Narcolepsy type 1 skos:exactMatch Orphanet:2073 semapv:UnspecifiedMatching +GARD:7162 Narcolepsy type 1 skos:narrowMatch OMIM:161400 semapv:UnspecifiedMatching +GARD:7162 Narcolepsy type 1 skos:narrowMatch OMIM:605841 semapv:UnspecifiedMatching +GARD:7162 Narcolepsy type 1 skos:narrowMatch OMIM:609039 semapv:UnspecifiedMatching +GARD:7162 Narcolepsy type 1 skos:narrowMatch OMIM:612417 semapv:UnspecifiedMatching +GARD:7162 Narcolepsy type 1 skos:narrowMatch OMIM:612851 semapv:UnspecifiedMatching +GARD:7162 Narcolepsy type 1 skos:narrowMatch OMIM:614223 semapv:UnspecifiedMatching +GARD:7162 Narcolepsy type 1 skos:narrowMatch OMIM:614250 semapv:UnspecifiedMatching +GARD:7163 Nasopharyngeal carcinoma skos:exactMatch Orphanet:150 semapv:UnspecifiedMatching +GARD:7163 Nasopharyngeal carcinoma skos:narrowMatch OMIM:161550 semapv:UnspecifiedMatching +GARD:7163 Nasopharyngeal carcinoma skos:narrowMatch OMIM:607107 semapv:UnspecifiedMatching +GARD:7163 Nasopharyngeal carcinoma skos:narrowMatch OMIM:617075 semapv:UnspecifiedMatching +GARD:7166 Gorlin syndrome skos:exactMatch Orphanet:377 semapv:UnspecifiedMatching +GARD:7166 Gorlin syndrome skos:narrowMatch OMIM:109400 semapv:UnspecifiedMatching +GARD:717 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:exactMatch Orphanet:1101 semapv:UnspecifiedMatching +GARD:7170 Nelson syndrome skos:exactMatch Orphanet:199244 semapv:UnspecifiedMatching +GARD:7171 Childhood-onset nemaline myopathy skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching +GARD:7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +GARD:7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:256030 semapv:UnspecifiedMatching +GARD:7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609273 semapv:UnspecifiedMatching +GARD:7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609284 semapv:UnspecifiedMatching +GARD:7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609285 semapv:UnspecifiedMatching +GARD:7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:615731 semapv:UnspecifiedMatching +GARD:7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:617336 semapv:UnspecifiedMatching +GARD:7172 Neonatal hemochromatosis skos:exactMatch Orphanet:446 semapv:UnspecifiedMatching +GARD:7172 Neonatal hemochromatosis skos:narrowMatch OMIM:231100 semapv:UnspecifiedMatching +GARD:7178 Nephrogenic diabetes insipidus skos:exactMatch Orphanet:223 semapv:UnspecifiedMatching +GARD:7178 Nephrogenic diabetes insipidus skos:narrowMatch OMIM:125800 semapv:UnspecifiedMatching +GARD:7178 Nephrogenic diabetes insipidus skos:narrowMatch OMIM:304800 semapv:UnspecifiedMatching +GARD:7180 Benign peripheral nerve sheath tumor skos:exactMatch Orphanet:252131 semapv:UnspecifiedMatching +GARD:7182 Netherton syndrome skos:exactMatch Orphanet:634 semapv:UnspecifiedMatching +GARD:7182 Netherton syndrome skos:narrowMatch OMIM:256500 semapv:UnspecifiedMatching +GARD:7183 Sialidosis type 2 skos:exactMatch Orphanet:87876 semapv:UnspecifiedMatching +GARD:7183 Sialidosis type 2 skos:narrowMatch OMIM:256150 semapv:UnspecifiedMatching +GARD:7183 Sialidosis type 2 skos:narrowMatch OMIM:256550 semapv:UnspecifiedMatching +GARD:7185 Neuroblastoma skos:exactMatch Orphanet:635 semapv:UnspecifiedMatching +GARD:7185 Neuroblastoma skos:narrowMatch OMIM:256700 semapv:UnspecifiedMatching +GARD:7185 Neuroblastoma skos:narrowMatch OMIM:613013 semapv:UnspecifiedMatching +GARD:7185 Neuroblastoma skos:narrowMatch OMIM:613014 semapv:UnspecifiedMatching +GARD:7185 Neuroblastoma skos:narrowMatch OMIM:613015 semapv:UnspecifiedMatching +GARD:7185 Neuroblastoma skos:narrowMatch OMIM:613016 semapv:UnspecifiedMatching +GARD:7185 Neuroblastoma skos:narrowMatch OMIM:613017 semapv:UnspecifiedMatching +GARD:7185 Neuroblastoma skos:narrowMatch OMIM:616792 semapv:UnspecifiedMatching +GARD:7186 Neurocutaneous melanocytosis skos:exactMatch Orphanet:2481 semapv:UnspecifiedMatching +GARD:7186 Neurocutaneous melanocytosis skos:narrowMatch OMIM:249400 semapv:UnspecifiedMatching +GARD:719 Anophthalmia plus syndrome skos:exactMatch Orphanet:1104 semapv:UnspecifiedMatching +GARD:719 Anophthalmia plus syndrome skos:narrowMatch OMIM:600776 semapv:UnspecifiedMatching +GARD:7190 Alzheimer disease 15 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:7190 Alzheimer disease 15 skos:exactMatch OMIM:604154 semapv:UnspecifiedMatching +GARD:7191 Neurofibroma skos:exactMatch Orphanet:252183 semapv:UnspecifiedMatching +GARD:7193 Neurofibromatosis type 2 skos:exactMatch Orphanet:637 semapv:UnspecifiedMatching +GARD:7193 Neurofibromatosis type 2 skos:narrowMatch OMIM:101000 semapv:UnspecifiedMatching +GARD:7195 Neuroleptic malignant syndrome skos:exactMatch Orphanet:94093 semapv:UnspecifiedMatching +GARD:7201 Thymic aplasia skos:exactMatch Orphanet:83471 semapv:UnspecifiedMatching +GARD:7201 Thymic aplasia skos:narrowMatch OMIM:242700 semapv:UnspecifiedMatching +GARD:7206 Infantile neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:77292 semapv:UnspecifiedMatching +GARD:7206 Infantile neurovisceral acid sphingomyelinase deficiency skos:narrowMatch OMIM:257200 semapv:UnspecifiedMatching +GARD:7207 Niemann-Pick disease type C skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching +GARD:7207 Niemann-Pick disease type C skos:narrowMatch OMIM:257220 semapv:UnspecifiedMatching +GARD:7207 Niemann-Pick disease type C skos:narrowMatch OMIM:607625 semapv:UnspecifiedMatching +GARD:7210 Nocardiosis skos:exactMatch Orphanet:31204 semapv:UnspecifiedMatching +GARD:7219 Glycine encephalopathy skos:exactMatch Orphanet:407 semapv:UnspecifiedMatching +GARD:7219 Glycine encephalopathy skos:narrowMatch OMIM:605899 semapv:UnspecifiedMatching +GARD:722 Microphthalmia with limb anomalies skos:exactMatch Orphanet:1106 semapv:UnspecifiedMatching +GARD:722 Microphthalmia with limb anomalies skos:narrowMatch OMIM:206920 semapv:UnspecifiedMatching +GARD:7220 Milroy disease skos:exactMatch Orphanet:79452 semapv:UnspecifiedMatching +GARD:7220 Milroy disease skos:narrowMatch OMIM:153100 semapv:UnspecifiedMatching +GARD:7220 Milroy disease skos:narrowMatch OMIM:611944 semapv:UnspecifiedMatching +GARD:7220 Milroy disease skos:narrowMatch OMIM:613480 semapv:UnspecifiedMatching +GARD:7220 Milroy disease skos:narrowMatch OMIM:615907 semapv:UnspecifiedMatching +GARD:7223 Noonan syndrome 1 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:7223 Noonan syndrome 1 skos:exactMatch OMIM:163950 semapv:UnspecifiedMatching +GARD:7224 Norrie disease skos:exactMatch Orphanet:649 semapv:UnspecifiedMatching +GARD:7224 Norrie disease skos:narrowMatch OMIM:310600 semapv:UnspecifiedMatching +GARD:7226 Lesch-Nyhan syndrome skos:exactMatch Orphanet:510 semapv:UnspecifiedMatching +GARD:7226 Lesch-Nyhan syndrome skos:narrowMatch OMIM:300322 semapv:UnspecifiedMatching +GARD:7226 Lesch-Nyhan syndrome skos:narrowMatch OMIM:308950 semapv:UnspecifiedMatching +GARD:7239 Oculodentodigital dysplasia skos:exactMatch Orphanet:2710 semapv:UnspecifiedMatching +GARD:7239 Oculodentodigital dysplasia skos:narrowMatch OMIM:164200 semapv:UnspecifiedMatching +GARD:7239 Oculodentodigital dysplasia skos:narrowMatch OMIM:257850 semapv:UnspecifiedMatching +GARD:7245 Oculopharyngeal muscular dystrophy skos:exactMatch Orphanet:270 semapv:UnspecifiedMatching +GARD:7245 Oculopharyngeal muscular dystrophy skos:narrowMatch OMIM:164300 semapv:UnspecifiedMatching +GARD:7251 Ollier disease skos:exactMatch Orphanet:296 semapv:UnspecifiedMatching +GARD:7251 Ollier disease skos:narrowMatch OMIM:166000 semapv:UnspecifiedMatching +GARD:7252 Onchocerciasis skos:exactMatch Orphanet:2737 semapv:UnspecifiedMatching +GARD:7264 Oral submucous fibrosis skos:exactMatch Orphanet:357154 semapv:UnspecifiedMatching +GARD:7269 Carbamoyl-phosphate synthetase 1 deficiency skos:exactMatch Orphanet:147 semapv:UnspecifiedMatching +GARD:7269 Carbamoyl-phosphate synthetase 1 deficiency skos:narrowMatch OMIM:237300 semapv:UnspecifiedMatching +GARD:7284 Osteosarcoma skos:exactMatch Orphanet:668 semapv:UnspecifiedMatching +GARD:7284 Osteosarcoma skos:narrowMatch OMIM:259500 semapv:UnspecifiedMatching +GARD:7295 Ovarian cancer skos:exactMatch Orphanet:213500 semapv:UnspecifiedMatching +GARD:7296 Malignant mixed Müllerian tumor of the ovary skos:exactMatch Orphanet:213512 semapv:UnspecifiedMatching +GARD:7299 Pachydermoperiostosis skos:exactMatch Orphanet:2796 semapv:UnspecifiedMatching +GARD:7299 Pachydermoperiostosis skos:narrowMatch OMIM:167100 semapv:UnspecifiedMatching +GARD:7299 Pachydermoperiostosis skos:narrowMatch OMIM:259100 semapv:UnspecifiedMatching +GARD:7299 Pachydermoperiostosis skos:narrowMatch OMIM:614441 semapv:UnspecifiedMatching +GARD:73 X-linked hyper-IgM syndrome skos:exactMatch Orphanet:101088 semapv:UnspecifiedMatching +GARD:73 X-linked hyper-IgM syndrome skos:narrowMatch OMIM:308230 semapv:UnspecifiedMatching +GARD:730 Anti-HLA hyperimmunization skos:exactMatch Orphanet:2194 semapv:UnspecifiedMatching +GARD:7303 Paget disease of the nipple skos:exactMatch Orphanet:180275 semapv:UnspecifiedMatching +GARD:7305 Pallister-Hall syndrome skos:exactMatch Orphanet:672 semapv:UnspecifiedMatching +GARD:7305 Pallister-Hall syndrome skos:narrowMatch OMIM:146510 semapv:UnspecifiedMatching +GARD:731 Congenital alpha2-antiplasmin deficiency skos:exactMatch Orphanet:79 semapv:UnspecifiedMatching +GARD:731 Congenital alpha2-antiplasmin deficiency skos:narrowMatch OMIM:262850 semapv:UnspecifiedMatching +GARD:7312 PANDAS skos:exactMatch Orphanet:66624 semapv:UnspecifiedMatching +GARD:7321 Localized lichen myxedematosus skos:exactMatch Orphanet:86795 semapv:UnspecifiedMatching +GARD:7323 Paracoccidioidomycosis skos:exactMatch Orphanet:73260 semapv:UnspecifiedMatching +GARD:7324 Paragangliomas 1 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +GARD:7324 Paragangliomas 1 skos:exactMatch OMIM:168000 semapv:UnspecifiedMatching +GARD:7325 Paramyotonia congenita of Von Eulenburg skos:exactMatch Orphanet:684 semapv:UnspecifiedMatching +GARD:7325 Paramyotonia congenita of Von Eulenburg skos:narrowMatch OMIM:168300 semapv:UnspecifiedMatching +GARD:7326 Paraneoplastic neurologic syndrome skos:exactMatch Orphanet:36388 semapv:UnspecifiedMatching +GARD:7329 Parathyroid carcinoma skos:exactMatch Orphanet:143 semapv:UnspecifiedMatching +GARD:7329 Parathyroid carcinoma skos:narrowMatch OMIM:608266 semapv:UnspecifiedMatching +GARD:7335 Paroxysmal cold hemoglobinuria skos:exactMatch Orphanet:90035 semapv:UnspecifiedMatching +GARD:7337 Paroxysmal nocturnal hemoglobinuria skos:exactMatch Orphanet:447 semapv:UnspecifiedMatching +GARD:7337 Paroxysmal nocturnal hemoglobinuria skos:narrowMatch OMIM:300818 semapv:UnspecifiedMatching +GARD:7337 Paroxysmal nocturnal hemoglobinuria skos:narrowMatch OMIM:615399 semapv:UnspecifiedMatching +GARD:7338 Progressive hemifacial atrophy skos:exactMatch Orphanet:1214 semapv:UnspecifiedMatching +GARD:7338 Progressive hemifacial atrophy skos:narrowMatch OMIM:141300 semapv:UnspecifiedMatching +GARD:7341 Trisomy 13 skos:exactMatch Orphanet:3378 semapv:UnspecifiedMatching +GARD:7342 Patent ductus arteriosus 1 skos:broadMatch Orphanet:466729 semapv:UnspecifiedMatching +GARD:7342 Patent ductus arteriosus 1 skos:exactMatch OMIM:607411 semapv:UnspecifiedMatching +GARD:7343 Pearson syndrome skos:exactMatch Orphanet:699 semapv:UnspecifiedMatching +GARD:7343 Pearson syndrome skos:narrowMatch OMIM:557000 semapv:UnspecifiedMatching +GARD:7347 Peeling skin syndrome skos:exactMatch Orphanet:817 semapv:UnspecifiedMatching +GARD:735 Antisynthetase syndrome skos:exactMatch Orphanet:81 semapv:UnspecifiedMatching +GARD:7354 Pemphigus foliaceus skos:exactMatch Orphanet:79481 semapv:UnspecifiedMatching +GARD:7355 Pemphigus vulgaris skos:exactMatch Orphanet:704 semapv:UnspecifiedMatching +GARD:7355 Pemphigus vulgaris skos:narrowMatch OMIM:169610 semapv:UnspecifiedMatching +GARD:7359 Pentalogy of Cantrell skos:exactMatch Orphanet:1335 semapv:UnspecifiedMatching +GARD:7359 Pentalogy of Cantrell skos:narrowMatch OMIM:313850 semapv:UnspecifiedMatching +GARD:7360 Polyarteritis nodosa skos:exactMatch Orphanet:767 semapv:UnspecifiedMatching +GARD:7371 Periventricular nodular heterotopia 1 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +GARD:7371 Periventricular nodular heterotopia 1 skos:exactMatch OMIM:300049 semapv:UnspecifiedMatching +GARD:7377 Peters anomaly skos:exactMatch Orphanet:708 semapv:UnspecifiedMatching +GARD:7377 Peters anomaly skos:narrowMatch OMIM:604229 semapv:UnspecifiedMatching +GARD:7377 Peters anomaly skos:narrowMatch OMIM:612968 semapv:UnspecifiedMatching +GARD:7378 Peutz-Jeghers syndrome skos:exactMatch Orphanet:2869 semapv:UnspecifiedMatching +GARD:7378 Peutz-Jeghers syndrome skos:narrowMatch OMIM:175200 semapv:UnspecifiedMatching +GARD:738 Congenital aortopulmonary window skos:exactMatch Orphanet:2037 semapv:UnspecifiedMatching +GARD:7380 Pfeiffer syndrome skos:exactMatch Orphanet:710 semapv:UnspecifiedMatching +GARD:7380 Pfeiffer syndrome skos:narrowMatch OMIM:101600 semapv:UnspecifiedMatching +GARD:7381 Liddle syndrome skos:exactMatch Orphanet:526 semapv:UnspecifiedMatching +GARD:7381 Liddle syndrome skos:narrowMatch OMIM:177200 semapv:UnspecifiedMatching +GARD:7381 Liddle syndrome skos:narrowMatch OMIM:618114 semapv:UnspecifiedMatching +GARD:7381 Liddle syndrome skos:narrowMatch OMIM:618126 semapv:UnspecifiedMatching +GARD:7383 Phenylketonuria skos:exactMatch Orphanet:716 semapv:UnspecifiedMatching +GARD:7383 Phenylketonuria skos:narrowMatch OMIM:261600 semapv:UnspecifiedMatching +GARD:7385 Sporadic pheochromocytoma/secreting paraganglioma skos:exactMatch Orphanet:276621 semapv:UnspecifiedMatching +GARD:7387 Roberts syndrome skos:exactMatch Orphanet:3103 semapv:UnspecifiedMatching +GARD:7387 Roberts syndrome skos:narrowMatch OMIM:268300 semapv:UnspecifiedMatching +GARD:7389 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch Orphanet:713 semapv:UnspecifiedMatching +GARD:7389 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:narrowMatch OMIM:300653 semapv:UnspecifiedMatching +GARD:739 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch Orphanet:1110 semapv:UnspecifiedMatching +GARD:739 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:narrowMatch OMIM:107500 semapv:UnspecifiedMatching +GARD:7392 Behavioral variant of frontotemporal dementia skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching +GARD:7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:172700 semapv:UnspecifiedMatching +GARD:7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:600274 semapv:UnspecifiedMatching +GARD:7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:600795 semapv:UnspecifiedMatching +GARD:7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:616437 semapv:UnspecifiedMatching +GARD:7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:619132 semapv:UnspecifiedMatching +GARD:7396 Tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 semapv:UnspecifiedMatching +GARD:7399 Isolated growth hormone deficiency type IA skos:exactMatch Orphanet:231662 semapv:UnspecifiedMatching +GARD:7399 Isolated growth hormone deficiency type IA skos:narrowMatch OMIM:262400 semapv:UnspecifiedMatching +GARD:7399 Isolated growth hormone deficiency type IA skos:narrowMatch OMIM:618160 semapv:UnspecifiedMatching +GARD:740 Aortic arch interruption skos:exactMatch Orphanet:2299 semapv:UnspecifiedMatching +GARD:7401 Pityriasis rubra pilaris skos:exactMatch Orphanet:2897 semapv:UnspecifiedMatching +GARD:7401 Pityriasis rubra pilaris skos:narrowMatch OMIM:173200 semapv:UnspecifiedMatching +GARD:7403 Placental site trophoblastic tumor skos:exactMatch Orphanet:99928 semapv:UnspecifiedMatching +GARD:741 Aortic arch defects skos:exactMatch Orphanet:1132 semapv:UnspecifiedMatching +GARD:7411 POEMS syndrome skos:exactMatch Orphanet:2905 semapv:UnspecifiedMatching +GARD:7412 Poland syndrome skos:exactMatch Orphanet:2911 semapv:UnspecifiedMatching +GARD:7412 Poland syndrome skos:narrowMatch OMIM:173800 semapv:UnspecifiedMatching +GARD:7413 Poliomyelitis skos:exactMatch Orphanet:2912 semapv:UnspecifiedMatching +GARD:7415 Cutaneous polyarteritis nodosa skos:exactMatch Orphanet:439729 semapv:UnspecifiedMatching +GARD:7417 Relapsing polychondritis skos:exactMatch Orphanet:728 semapv:UnspecifiedMatching +GARD:7422 Polycythemia vera skos:exactMatch Orphanet:729 semapv:UnspecifiedMatching +GARD:7422 Polycythemia vera skos:narrowMatch OMIM:263300 semapv:UnspecifiedMatching +GARD:7425 Polymyositis skos:exactMatch Orphanet:732 semapv:UnspecifiedMatching +GARD:743 Supravalvular aortic stenosis skos:exactMatch Orphanet:3193 semapv:UnspecifiedMatching +GARD:743 Supravalvular aortic stenosis skos:narrowMatch OMIM:185500 semapv:UnspecifiedMatching +GARD:7430 Porencephaly skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching +GARD:7430 Porencephaly skos:narrowMatch OMIM:175780 semapv:UnspecifiedMatching +GARD:7430 Porencephaly skos:narrowMatch OMIM:614483 semapv:UnspecifiedMatching +GARD:7433 Porphyria cutanea tarda skos:exactMatch Orphanet:101330 semapv:UnspecifiedMatching +GARD:7433 Porphyria cutanea tarda skos:narrowMatch OMIM:176090 semapv:UnspecifiedMatching +GARD:7433 Porphyria cutanea tarda skos:narrowMatch OMIM:176100 semapv:UnspecifiedMatching +GARD:7439 Posterior urethral valve skos:exactMatch Orphanet:93110 semapv:UnspecifiedMatching +GARD:7439 Posterior urethral valve skos:narrowMatch OMIM:618612 semapv:UnspecifiedMatching +GARD:7446 Rare precocious puberty skos:exactMatch Orphanet:95708 semapv:UnspecifiedMatching +GARD:7459 Primary biliary cholangitis skos:exactMatch Orphanet:186 semapv:UnspecifiedMatching +GARD:7459 Primary biliary cholangitis skos:narrowMatch OMIM:109720 semapv:UnspecifiedMatching +GARD:7459 Primary biliary cholangitis skos:narrowMatch OMIM:613007 semapv:UnspecifiedMatching +GARD:7459 Primary biliary cholangitis skos:narrowMatch OMIM:613008 semapv:UnspecifiedMatching +GARD:7459 Primary biliary cholangitis skos:narrowMatch OMIM:614220 semapv:UnspecifiedMatching +GARD:7459 Primary biliary cholangitis skos:narrowMatch OMIM:614221 semapv:UnspecifiedMatching +GARD:7467 Hutchinson-Gilford progeria syndrome skos:exactMatch Orphanet:740 semapv:UnspecifiedMatching +GARD:7467 Hutchinson-Gilford progeria syndrome skos:narrowMatch OMIM:176670 semapv:UnspecifiedMatching +GARD:7468 Progressive multifocal leukoencephalopathy skos:exactMatch Orphanet:217260 semapv:UnspecifiedMatching +GARD:7471 Progressive supranuclear palsy skos:exactMatch Orphanet:683 semapv:UnspecifiedMatching +GARD:7471 Progressive supranuclear palsy skos:narrowMatch OMIM:260540 semapv:UnspecifiedMatching +GARD:7471 Progressive supranuclear palsy skos:narrowMatch OMIM:601104 semapv:UnspecifiedMatching +GARD:7471 Progressive supranuclear palsy skos:narrowMatch OMIM:609454 semapv:UnspecifiedMatching +GARD:7471 Progressive supranuclear palsy skos:narrowMatch OMIM:610898 semapv:UnspecifiedMatching +GARD:7473 Prolidase deficiency skos:exactMatch Orphanet:742 semapv:UnspecifiedMatching +GARD:7473 Prolidase deficiency skos:narrowMatch OMIM:170100 semapv:UnspecifiedMatching +GARD:7475 Proteus syndrome skos:exactMatch Orphanet:744 semapv:UnspecifiedMatching +GARD:7475 Proteus syndrome skos:narrowMatch OMIM:176920 semapv:UnspecifiedMatching +GARD:7479 Prune belly syndrome skos:exactMatch Orphanet:2970 semapv:UnspecifiedMatching +GARD:7479 Prune belly syndrome skos:narrowMatch OMIM:100100 semapv:UnspecifiedMatching +GARD:748 Aphalangy-syndactyly-microcephaly syndrome skos:exactMatch Orphanet:1113 semapv:UnspecifiedMatching +GARD:748 Aphalangy-syndactyly-microcephaly syndrome skos:narrowMatch OMIM:600384 semapv:UnspecifiedMatching +GARD:7482 Butyrylcholinesterase deficiency skos:exactMatch Orphanet:132 semapv:UnspecifiedMatching +GARD:7482 Butyrylcholinesterase deficiency skos:narrowMatch OMIM:617936 semapv:UnspecifiedMatching +GARD:7486 Pseudohypoparathyroidism type 1A skos:exactMatch Orphanet:79443 semapv:UnspecifiedMatching +GARD:7486 Pseudohypoparathyroidism type 1A skos:narrowMatch OMIM:103580 semapv:UnspecifiedMatching +GARD:7488 Pseudomyxoma peritonei skos:exactMatch Orphanet:26790 semapv:UnspecifiedMatching +GARD:7499 Autoimmune pulmonary alveolar proteinosis skos:exactMatch Orphanet:747 semapv:UnspecifiedMatching +GARD:7499 Autoimmune pulmonary alveolar proteinosis skos:narrowMatch OMIM:610910 semapv:UnspecifiedMatching +GARD:7501 Pulmonary arterial hypertension skos:exactMatch Orphanet:182090 semapv:UnspecifiedMatching +GARD:7503 Punctate inner choroidopathy skos:exactMatch Orphanet:580951 semapv:UnspecifiedMatching +GARD:7510 Pyoderma gangrenosum skos:exactMatch Orphanet:48104 semapv:UnspecifiedMatching +GARD:7512 Pyruvate carboxylase deficiency skos:exactMatch Orphanet:3008 semapv:UnspecifiedMatching +GARD:7512 Pyruvate carboxylase deficiency skos:narrowMatch OMIM:266150 semapv:UnspecifiedMatching +GARD:7513 Pyruvate dehydrogenase deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching +GARD:7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:245348 semapv:UnspecifiedMatching +GARD:7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:245349 semapv:UnspecifiedMatching +GARD:7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:246900 semapv:UnspecifiedMatching +GARD:7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:312170 semapv:UnspecifiedMatching +GARD:7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:608782 semapv:UnspecifiedMatching +GARD:7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:614111 semapv:UnspecifiedMatching +GARD:7514 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch Orphanet:766 semapv:UnspecifiedMatching +GARD:7514 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:narrowMatch OMIM:266200 semapv:UnspecifiedMatching +GARD:7515 Q fever skos:exactMatch Orphanet:781 semapv:UnspecifiedMatching +GARD:7516 Rabies skos:exactMatch Orphanet:770 semapv:UnspecifiedMatching +GARD:7523 Ramon syndrome skos:exactMatch Orphanet:3019 semapv:UnspecifiedMatching +GARD:7523 Ramon syndrome skos:narrowMatch OMIM:266270 semapv:UnspecifiedMatching +GARD:7525 Ramsay Hunt syndrome skos:exactMatch Orphanet:3020 semapv:UnspecifiedMatching +GARD:753 Aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch Orphanet:1116 semapv:UnspecifiedMatching +GARD:753 Aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:narrowMatch OMIM:207731 semapv:UnspecifiedMatching +GARD:7548 Familial renal glucosuria skos:exactMatch Orphanet:69076 semapv:UnspecifiedMatching +GARD:7548 Familial renal glucosuria skos:narrowMatch OMIM:233100 semapv:UnspecifiedMatching +GARD:7552 Primary renal tubular acidosis skos:exactMatch Orphanet:314822 semapv:UnspecifiedMatching +GARD:756 Aplasia cutis-myopia syndrome skos:exactMatch Orphanet:1117 semapv:UnspecifiedMatching +GARD:756 Aplasia cutis-myopia syndrome skos:narrowMatch OMIM:601075 semapv:UnspecifiedMatching +GARD:7563 Retinoblastoma skos:exactMatch Orphanet:790 semapv:UnspecifiedMatching +GARD:7563 Retinoblastoma skos:narrowMatch OMIM:180200 semapv:UnspecifiedMatching +GARD:7570 Reye syndrome skos:exactMatch Orphanet:3096 semapv:UnspecifiedMatching +GARD:7572 Rhabdoid tumor skos:exactMatch Orphanet:69077 semapv:UnspecifiedMatching +GARD:7572 Rhabdoid tumor skos:narrowMatch OMIM:609322 semapv:UnspecifiedMatching +GARD:7572 Rhabdoid tumor skos:narrowMatch OMIM:613325 semapv:UnspecifiedMatching +GARD:7581 Familial dysautonomia skos:exactMatch Orphanet:1764 semapv:UnspecifiedMatching +GARD:7581 Familial dysautonomia skos:narrowMatch OMIM:223900 semapv:UnspecifiedMatching +GARD:7585 Rocky Mountain spotted fever skos:exactMatch Orphanet:83311 semapv:UnspecifiedMatching +GARD:7588 Rosaï-Dorfman disease skos:exactMatch Orphanet:158014 semapv:UnspecifiedMatching +GARD:759 Familial apolipoprotein C-II deficiency skos:exactMatch Orphanet:309020 semapv:UnspecifiedMatching +GARD:759 Familial apolipoprotein C-II deficiency skos:narrowMatch OMIM:207750 semapv:UnspecifiedMatching +GARD:7593 Rubinstein-Taybi syndrome skos:exactMatch Orphanet:783 semapv:UnspecifiedMatching +GARD:7593 Rubinstein-Taybi syndrome skos:narrowMatch OMIM:180849 semapv:UnspecifiedMatching +GARD:7593 Rubinstein-Taybi syndrome skos:narrowMatch OMIM:610543 semapv:UnspecifiedMatching +GARD:7593 Rubinstein-Taybi syndrome skos:narrowMatch OMIM:613684 semapv:UnspecifiedMatching +GARD:7598 Saethre-Chotzen syndrome skos:exactMatch Orphanet:794 semapv:UnspecifiedMatching +GARD:7598 Saethre-Chotzen syndrome skos:narrowMatch OMIM:101400 semapv:UnspecifiedMatching +GARD:7598 Saethre-Chotzen syndrome skos:narrowMatch OMIM:180750 semapv:UnspecifiedMatching +GARD:76 Hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching +GARD:76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:129490 semapv:UnspecifiedMatching +GARD:76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:224900 semapv:UnspecifiedMatching +GARD:76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:300291 semapv:UnspecifiedMatching +GARD:76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:305100 semapv:UnspecifiedMatching +GARD:76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:612132 semapv:UnspecifiedMatching +GARD:76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614940 semapv:UnspecifiedMatching +GARD:76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614941 semapv:UnspecifiedMatching +GARD:7604 Sandhoff disease, infantile form skos:exactMatch Orphanet:309155 semapv:UnspecifiedMatching +GARD:7604 Sandhoff disease, infantile form skos:narrowMatch OMIM:268800 semapv:UnspecifiedMatching +GARD:7606 SAPHO syndrome skos:exactMatch Orphanet:793 semapv:UnspecifiedMatching +GARD:7607 Sarcoidosis skos:exactMatch Orphanet:797 semapv:UnspecifiedMatching +GARD:7607 Sarcoidosis skos:narrowMatch OMIM:181000 semapv:UnspecifiedMatching +GARD:7607 Sarcoidosis skos:narrowMatch OMIM:612387 semapv:UnspecifiedMatching +GARD:7607 Sarcoidosis skos:narrowMatch OMIM:612388 semapv:UnspecifiedMatching +GARD:7608 X-linked scapuloperoneal muscular dystrophy skos:exactMatch Orphanet:431272 semapv:UnspecifiedMatching +GARD:7608 X-linked scapuloperoneal muscular dystrophy skos:narrowMatch OMIM:300695 semapv:UnspecifiedMatching +GARD:7610 Familial Scheuermann disease skos:exactMatch Orphanet:3135 semapv:UnspecifiedMatching +GARD:7610 Familial Scheuermann disease skos:narrowMatch OMIM:181440 semapv:UnspecifiedMatching +GARD:7611 Autoimmune polyendocrinopathy type 2 skos:exactMatch Orphanet:3143 semapv:UnspecifiedMatching +GARD:7611 Autoimmune polyendocrinopathy type 2 skos:narrowMatch OMIM:269200 semapv:UnspecifiedMatching +GARD:7615 Scleromyxedema skos:exactMatch Orphanet:167635 semapv:UnspecifiedMatching +GARD:7617 Kuru skos:exactMatch Orphanet:454745 semapv:UnspecifiedMatching +GARD:7617 Kuru skos:narrowMatch OMIM:245300 semapv:UnspecifiedMatching +GARD:7627 Septo-optic dysplasia spectrum skos:exactMatch Orphanet:3157 semapv:UnspecifiedMatching +GARD:7627 Septo-optic dysplasia spectrum skos:narrowMatch OMIM:182230 semapv:UnspecifiedMatching +GARD:7628 Severe combined immunodeficiency skos:exactMatch Orphanet:183660 semapv:UnspecifiedMatching +GARD:7629 Sézary syndrome skos:exactMatch Orphanet:3162 semapv:UnspecifiedMatching +GARD:7630 Sheehan syndrome skos:exactMatch Orphanet:91355 semapv:UnspecifiedMatching +GARD:7633 SHORT syndrome skos:exactMatch Orphanet:3163 semapv:UnspecifiedMatching +GARD:7633 SHORT syndrome skos:narrowMatch OMIM:269880 semapv:UnspecifiedMatching +GARD:7639 Sialidosis type 1 skos:exactMatch Orphanet:812 semapv:UnspecifiedMatching +GARD:7639 Sialidosis type 1 skos:narrowMatch OMIM:256550 semapv:UnspecifiedMatching +GARD:764 Arachnodactyly-intellectual disability-dysmorphism syndrome skos:exactMatch Orphanet:1130 semapv:UnspecifiedMatching +GARD:7649 Simpson-Golabi-Behmel syndrome skos:exactMatch Orphanet:373 semapv:UnspecifiedMatching +GARD:7649 Simpson-Golabi-Behmel syndrome skos:narrowMatch OMIM:312870 semapv:UnspecifiedMatching +GARD:7652 Sirenomelia skos:exactMatch Orphanet:3169 semapv:UnspecifiedMatching +GARD:7652 Sirenomelia skos:narrowMatch OMIM:600145 semapv:UnspecifiedMatching +GARD:7653 Sitosterolemia skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching +GARD:7653 Sitosterolemia skos:narrowMatch OMIM:210250 semapv:UnspecifiedMatching +GARD:7653 Sitosterolemia skos:narrowMatch OMIM:618666 semapv:UnspecifiedMatching +GARD:7654 Sjögren-Larsson syndrome skos:exactMatch Orphanet:816 semapv:UnspecifiedMatching +GARD:7654 Sjögren-Larsson syndrome skos:narrowMatch OMIM:270200 semapv:UnspecifiedMatching +GARD:7664 Sneddon syndrome skos:exactMatch Orphanet:820 semapv:UnspecifiedMatching +GARD:7664 Sneddon syndrome skos:narrowMatch OMIM:182410 semapv:UnspecifiedMatching +GARD:7672 Sphingolipidosis skos:exactMatch Orphanet:79225 semapv:UnspecifiedMatching +GARD:7673 Isolated spina bifida skos:exactMatch Orphanet:823 semapv:UnspecifiedMatching +GARD:7673 Isolated spina bifida skos:narrowMatch OMIM:182940 semapv:UnspecifiedMatching +GARD:7673 Isolated spina bifida skos:narrowMatch OMIM:301410 semapv:UnspecifiedMatching +GARD:7673 Isolated spina bifida skos:narrowMatch OMIM:601634 semapv:UnspecifiedMatching +GARD:7687 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia skos:exactMatch Orphanet:253 semapv:UnspecifiedMatching +GARD:7690 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch Orphanet:356 semapv:UnspecifiedMatching +GARD:7690 Gerstmann-Straussler-Scheinker syndrome skos:narrowMatch OMIM:137440 semapv:UnspecifiedMatching +GARD:7692 Sporotrichosis skos:exactMatch Orphanet:826 semapv:UnspecifiedMatching +GARD:7693 Sprengel deformity skos:exactMatch Orphanet:3181 semapv:UnspecifiedMatching +GARD:7693 Sprengel deformity skos:narrowMatch OMIM:184400 semapv:UnspecifiedMatching +GARD:7695 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 semapv:UnspecifiedMatching +GARD:7695 Succinic semialdehyde dehydrogenase deficiency skos:narrowMatch OMIM:271980 semapv:UnspecifiedMatching +GARD:770 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 semapv:UnspecifiedMatching +GARD:770 Aromatic L-amino acid decarboxylase deficiency skos:narrowMatch OMIM:608643 semapv:UnspecifiedMatching +GARD:7700 Stevens-Johnson syndrome skos:exactMatch Orphanet:36426 semapv:UnspecifiedMatching +GARD:7700 Stevens-Johnson syndrome skos:narrowMatch OMIM:608579 semapv:UnspecifiedMatching +GARD:7706 Sturge-Weber syndrome skos:exactMatch Orphanet:3205 semapv:UnspecifiedMatching +GARD:7706 Sturge-Weber syndrome skos:narrowMatch OMIM:185300 semapv:UnspecifiedMatching +GARD:7708 Subacute sclerosing leukoencephalitis skos:exactMatch Orphanet:2806 semapv:UnspecifiedMatching +GARD:7708 Subacute sclerosing leukoencephalitis skos:narrowMatch OMIM:260470 semapv:UnspecifiedMatching +GARD:7710 Congenital sucrase-isomaltase deficiency skos:exactMatch Orphanet:35122 semapv:UnspecifiedMatching +GARD:7710 Congenital sucrase-isomaltase deficiency skos:narrowMatch OMIM:222900 semapv:UnspecifiedMatching +GARD:7712 Superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 semapv:UnspecifiedMatching +GARD:7713 Susac syndrome skos:exactMatch Orphanet:838 semapv:UnspecifiedMatching +GARD:7716 Sydenham chorea skos:exactMatch Orphanet:306731 semapv:UnspecifiedMatching +GARD:7721 Synovial sarcoma skos:exactMatch Orphanet:3273 semapv:UnspecifiedMatching +GARD:7721 Synovial sarcoma skos:narrowMatch OMIM:300813 semapv:UnspecifiedMatching +GARD:7725 Syringomyelia skos:exactMatch Orphanet:3280 semapv:UnspecifiedMatching +GARD:7725 Syringomyelia skos:narrowMatch OMIM:186700 semapv:UnspecifiedMatching +GARD:7730 Takayasu arteritis skos:exactMatch Orphanet:3287 semapv:UnspecifiedMatching +GARD:7730 Takayasu arteritis skos:narrowMatch OMIM:207600 semapv:UnspecifiedMatching +GARD:7731 Tangier disease skos:exactMatch Orphanet:31150 semapv:UnspecifiedMatching +GARD:7731 Tangier disease skos:narrowMatch OMIM:205400 semapv:UnspecifiedMatching +GARD:7737 Tay-Sachs disease skos:exactMatch Orphanet:845 semapv:UnspecifiedMatching +GARD:7737 Tay-Sachs disease skos:narrowMatch OMIM:272800 semapv:UnspecifiedMatching +GARD:774 Arterial tortuosity syndrome skos:exactMatch Orphanet:3342 semapv:UnspecifiedMatching +GARD:774 Arterial tortuosity syndrome skos:narrowMatch OMIM:208050 semapv:UnspecifiedMatching +GARD:7743 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:exactMatch Orphanet:95455 semapv:UnspecifiedMatching +GARD:7743 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:narrowMatch OMIM:608579 semapv:UnspecifiedMatching +GARD:7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch Orphanet:238583 semapv:UnspecifiedMatching +GARD:7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:233910 semapv:UnspecifiedMatching +GARD:7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:261630 semapv:UnspecifiedMatching +GARD:7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:261640 semapv:UnspecifiedMatching +GARD:7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:264070 semapv:UnspecifiedMatching +GARD:7754 Tetrasomy X skos:exactMatch Orphanet:9 semapv:UnspecifiedMatching +GARD:7759 Thoracic outlet syndrome skos:exactMatch Orphanet:97330 semapv:UnspecifiedMatching +GARD:777 Arthrogryposis multiplex congenita skos:exactMatch Orphanet:1037 semapv:UnspecifiedMatching +GARD:7772 Tietz syndrome skos:exactMatch Orphanet:42665 semapv:UnspecifiedMatching +GARD:7772 Tietz syndrome skos:narrowMatch OMIM:103500 semapv:UnspecifiedMatching +GARD:7777 Tolosa-Hunt syndrome skos:exactMatch Orphanet:64686 semapv:UnspecifiedMatching +GARD:7784 Townes-Brocks syndrome skos:exactMatch Orphanet:857 semapv:UnspecifiedMatching +GARD:7784 Townes-Brocks syndrome skos:narrowMatch OMIM:107480 semapv:UnspecifiedMatching +GARD:7784 Townes-Brocks syndrome skos:narrowMatch OMIM:617466 semapv:UnspecifiedMatching +GARD:7793 Transient erythroblastopenia of childhood skos:exactMatch Orphanet:98871 semapv:UnspecifiedMatching +GARD:7793 Transient erythroblastopenia of childhood skos:narrowMatch OMIM:227050 semapv:UnspecifiedMatching +GARD:7795 Transposition of the great arteries skos:exactMatch Orphanet:216675 semapv:UnspecifiedMatching +GARD:7799 Tricho-dento-osseous syndrome skos:exactMatch Orphanet:3352 semapv:UnspecifiedMatching +GARD:7799 Tricho-dento-osseous syndrome skos:narrowMatch OMIM:190320 semapv:UnspecifiedMatching +GARD:7800 Trichorhinophalangeal syndrome, type i skos:broadMatch Orphanet:77258 semapv:UnspecifiedMatching +GARD:7800 Trichorhinophalangeal syndrome, type i skos:exactMatch OMIM:190350 semapv:UnspecifiedMatching +GARD:7801 Trichorhinophalangeal syndrome type 2 skos:exactMatch Orphanet:502 semapv:UnspecifiedMatching +GARD:7801 Trichorhinophalangeal syndrome type 2 skos:narrowMatch OMIM:150230 semapv:UnspecifiedMatching +GARD:7802 Trichorhinophalangeal syndrome, type iii skos:broadMatch Orphanet:77258 semapv:UnspecifiedMatching +GARD:7802 Trichorhinophalangeal syndrome, type iii skos:exactMatch OMIM:190351 semapv:UnspecifiedMatching +GARD:7805 Trigeminal neuralgia skos:exactMatch Orphanet:221091 semapv:UnspecifiedMatching +GARD:7805 Trigeminal neuralgia skos:narrowMatch OMIM:190400 semapv:UnspecifiedMatching +GARD:7826 African trypanosomiasis skos:exactMatch Orphanet:3385 semapv:UnspecifiedMatching +GARD:7827 Tuberculosis skos:exactMatch Orphanet:3389 semapv:UnspecifiedMatching +GARD:7827 Tuberculosis skos:narrowMatch OMIM:607948 semapv:UnspecifiedMatching +GARD:7828 Tuberculous meningitis skos:exactMatch Orphanet:499004 semapv:UnspecifiedMatching +GARD:7830 Tuberous sclerosis complex skos:exactMatch Orphanet:805 semapv:UnspecifiedMatching +GARD:7830 Tuberous sclerosis complex skos:narrowMatch OMIM:191100 semapv:UnspecifiedMatching +GARD:7830 Tuberous sclerosis complex skos:narrowMatch OMIM:613254 semapv:UnspecifiedMatching +GARD:7831 Turner syndrome skos:exactMatch Orphanet:881 semapv:UnspecifiedMatching +GARD:7837 Disorder of urea cycle metabolism and ammonia detoxification skos:exactMatch Orphanet:79167 semapv:UnspecifiedMatching +GARD:784 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch Orphanet:1144 semapv:UnspecifiedMatching +GARD:784 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:narrowMatch OMIM:108200 semapv:UnspecifiedMatching +GARD:7842 Cutaneous mastocytosis skos:exactMatch Orphanet:66646 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:276900 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:276901 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:276902 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:276904 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:500004 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:601067 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:602083 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:602097 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:605472 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:606943 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:611383 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:612632 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:614504 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:614869 semapv:UnspecifiedMatching +GARD:7843 Usher syndrome skos:narrowMatch OMIM:614990 semapv:UnspecifiedMatching +GARD:7846 Van der woude syndrome 2 skos:broadMatch Orphanet:888 semapv:UnspecifiedMatching +GARD:7846 Van der woude syndrome 2 skos:exactMatch OMIM:606713 semapv:UnspecifiedMatching +GARD:7848 Porphyria variegata skos:exactMatch Orphanet:79473 semapv:UnspecifiedMatching +GARD:7848 Porphyria variegata skos:narrowMatch OMIM:176200 semapv:UnspecifiedMatching +GARD:7851 Cutaneous small vessel vasculitis skos:exactMatch Orphanet:889 semapv:UnspecifiedMatching +GARD:7854 Vernal keratoconjunctivitis skos:exactMatch Orphanet:70476 semapv:UnspecifiedMatching +GARD:7855 Von Hippel-Lindau disease skos:exactMatch Orphanet:892 semapv:UnspecifiedMatching +GARD:7855 Von Hippel-Lindau disease skos:narrowMatch OMIM:193300 semapv:UnspecifiedMatching +GARD:7857 Hemophagocytic syndrome associated with an infection skos:exactMatch Orphanet:158048 semapv:UnspecifiedMatching +GARD:786 Distal arthrogryposis skos:exactMatch Orphanet:97120 semapv:UnspecifiedMatching +GARD:7860 Pseudopseudohypoparathyroidism skos:exactMatch Orphanet:79445 semapv:UnspecifiedMatching +GARD:7860 Pseudopseudohypoparathyroidism skos:narrowMatch OMIM:612463 semapv:UnspecifiedMatching +GARD:7862 Vogt-Koyanagi-Harada disease skos:exactMatch Orphanet:3437 semapv:UnspecifiedMatching +GARD:7864 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia skos:exactMatch Orphanet:79258 semapv:UnspecifiedMatching +GARD:7864 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia skos:narrowMatch OMIM:232200 semapv:UnspecifiedMatching +GARD:7866 Neurofibromatosis type 1 skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching +GARD:7866 Neurofibromatosis type 1 skos:narrowMatch OMIM:162200 semapv:UnspecifiedMatching +GARD:7866 Neurofibromatosis type 1 skos:narrowMatch OMIM:162210 semapv:UnspecifiedMatching +GARD:7866 Neurofibromatosis type 1 skos:narrowMatch OMIM:613675 semapv:UnspecifiedMatching +GARD:7867 Von Willebrand disease skos:exactMatch Orphanet:903 semapv:UnspecifiedMatching +GARD:7867 Von Willebrand disease skos:narrowMatch OMIM:193400 semapv:UnspecifiedMatching +GARD:7867 Von Willebrand disease skos:narrowMatch OMIM:277480 semapv:UnspecifiedMatching +GARD:7867 Von Willebrand disease skos:narrowMatch OMIM:314560 semapv:UnspecifiedMatching +GARD:7867 Von Willebrand disease skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +GARD:787 Distal arthrogryposis type 1 skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching +GARD:787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:108120 semapv:UnspecifiedMatching +GARD:787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:126050 semapv:UnspecifiedMatching +GARD:787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:614335 semapv:UnspecifiedMatching +GARD:787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:618435 semapv:UnspecifiedMatching +GARD:787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:619110 semapv:UnspecifiedMatching +GARD:7871 Wagner disease skos:exactMatch Orphanet:898 semapv:UnspecifiedMatching +GARD:7871 Wagner disease skos:narrowMatch OMIM:143200 semapv:UnspecifiedMatching +GARD:7872 Waldenström macroglobulinemia skos:exactMatch Orphanet:33226 semapv:UnspecifiedMatching +GARD:7872 Waldenström macroglobulinemia skos:narrowMatch OMIM:153600 semapv:UnspecifiedMatching +GARD:7872 Waldenström macroglobulinemia skos:narrowMatch OMIM:610430 semapv:UnspecifiedMatching +GARD:7873 Primary intestinal lymphangiectasia skos:exactMatch Orphanet:90362 semapv:UnspecifiedMatching +GARD:7873 Primary intestinal lymphangiectasia skos:narrowMatch OMIM:152800 semapv:UnspecifiedMatching +GARD:7876 Autoimmune hemolytic anemia, warm type skos:exactMatch Orphanet:90033 semapv:UnspecifiedMatching +GARD:7878 Weaver syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching +GARD:7878 Weaver syndrome skos:narrowMatch OMIM:277590 semapv:UnspecifiedMatching +GARD:7878 Weaver syndrome skos:narrowMatch OMIM:617561 semapv:UnspecifiedMatching +GARD:7878 Weaver syndrome skos:narrowMatch OMIM:618786 semapv:UnspecifiedMatching +GARD:7879 Nodular non-suppurative panniculitis skos:exactMatch Orphanet:33577 semapv:UnspecifiedMatching +GARD:7880 Granulomatosis with polyangiitis skos:exactMatch Orphanet:900 semapv:UnspecifiedMatching +GARD:7880 Granulomatosis with polyangiitis skos:narrowMatch OMIM:608710 semapv:UnspecifiedMatching +GARD:7881 Leptospirosis skos:exactMatch Orphanet:509 semapv:UnspecifiedMatching +GARD:7883 Proximal spinal muscular atrophy type 1 skos:exactMatch Orphanet:83330 semapv:UnspecifiedMatching +GARD:7883 Proximal spinal muscular atrophy type 1 skos:narrowMatch OMIM:253300 semapv:UnspecifiedMatching +GARD:7885 Werner syndrome skos:exactMatch Orphanet:902 semapv:UnspecifiedMatching +GARD:7885 Werner syndrome skos:narrowMatch OMIM:277700 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:300672 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:308350 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:613477 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:613722 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:615006 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:616139 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:616341 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:617065 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:617929 semapv:UnspecifiedMatching +GARD:7887 Infantile spasms syndrome skos:narrowMatch OMIM:618298 semapv:UnspecifiedMatching +GARD:7888 Western equine encephalitis skos:exactMatch Orphanet:83593 semapv:UnspecifiedMatching +GARD:7889 Whipple disease skos:exactMatch Orphanet:3452 semapv:UnspecifiedMatching +GARD:7890 Intellectual disability-developmental delay-contractures syndrome skos:exactMatch Orphanet:3454 semapv:UnspecifiedMatching +GARD:7890 Intellectual disability-developmental delay-contractures syndrome skos:narrowMatch OMIM:314580 semapv:UnspecifiedMatching +GARD:7891 Williams syndrome skos:exactMatch Orphanet:904 semapv:UnspecifiedMatching +GARD:7891 Williams syndrome skos:narrowMatch OMIM:194050 semapv:UnspecifiedMatching +GARD:7892 Nephroblastoma skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching +GARD:7892 Nephroblastoma skos:narrowMatch OMIM:194070 semapv:UnspecifiedMatching +GARD:7892 Nephroblastoma skos:narrowMatch OMIM:194071 semapv:UnspecifiedMatching +GARD:7892 Nephroblastoma skos:narrowMatch OMIM:194090 semapv:UnspecifiedMatching +GARD:7892 Nephroblastoma skos:narrowMatch OMIM:601363 semapv:UnspecifiedMatching +GARD:7892 Nephroblastoma skos:narrowMatch OMIM:601583 semapv:UnspecifiedMatching +GARD:7892 Nephroblastoma skos:narrowMatch OMIM:616806 semapv:UnspecifiedMatching +GARD:7893 Wilson disease skos:exactMatch Orphanet:905 semapv:UnspecifiedMatching +GARD:7893 Wilson disease skos:narrowMatch OMIM:277900 semapv:UnspecifiedMatching +GARD:7894 Winchester syndrome skos:broadMatch Orphanet:371428 semapv:UnspecifiedMatching +GARD:7894 Winchester syndrome skos:exactMatch OMIM:277950 semapv:UnspecifiedMatching +GARD:7895 Wiskott-Aldrich syndrome skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching +GARD:7895 Wiskott-Aldrich syndrome skos:narrowMatch OMIM:301000 semapv:UnspecifiedMatching +GARD:7895 Wiskott-Aldrich syndrome skos:narrowMatch OMIM:600903 semapv:UnspecifiedMatching +GARD:7895 Wiskott-Aldrich syndrome skos:narrowMatch OMIM:614493 semapv:UnspecifiedMatching +GARD:7896 Wolf-Hirschhorn syndrome skos:exactMatch Orphanet:280 semapv:UnspecifiedMatching +GARD:7896 Wolf-Hirschhorn syndrome skos:narrowMatch OMIM:194190 semapv:UnspecifiedMatching +GARD:7898 Wolfram syndrome skos:exactMatch Orphanet:3463 semapv:UnspecifiedMatching +GARD:7898 Wolfram syndrome skos:narrowMatch OMIM:222300 semapv:UnspecifiedMatching +GARD:7898 Wolfram syndrome skos:narrowMatch OMIM:598500 semapv:UnspecifiedMatching +GARD:7898 Wolfram syndrome skos:narrowMatch OMIM:604928 semapv:UnspecifiedMatching +GARD:7899 Wolman disease skos:exactMatch Orphanet:75233 semapv:UnspecifiedMatching +GARD:7899 Wolman disease skos:narrowMatch OMIM:278000 semapv:UnspecifiedMatching +GARD:79 Metaphyseal chondrodysplasia, Jansen type skos:exactMatch Orphanet:33067 semapv:UnspecifiedMatching +GARD:79 Metaphyseal chondrodysplasia, Jansen type skos:narrowMatch OMIM:156400 semapv:UnspecifiedMatching +GARD:790 Neurogenic arthrogryposis multiplex congenita skos:exactMatch Orphanet:1143 semapv:UnspecifiedMatching +GARD:790 Neurogenic arthrogryposis multiplex congenita skos:narrowMatch OMIM:208100 semapv:UnspecifiedMatching +GARD:7900 Wyburn-Mason syndrome skos:exactMatch Orphanet:53719 semapv:UnspecifiedMatching +GARD:7904 Recessive X-linked ichthyosis skos:exactMatch Orphanet:461 semapv:UnspecifiedMatching +GARD:7904 Recessive X-linked ichthyosis skos:narrowMatch OMIM:300001 semapv:UnspecifiedMatching +GARD:7904 Recessive X-linked ichthyosis skos:narrowMatch OMIM:308100 semapv:UnspecifiedMatching +GARD:7906 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch Orphanet:538931 semapv:UnspecifiedMatching +GARD:7906 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:narrowMatch OMIM:308240 semapv:UnspecifiedMatching +GARD:7910 Xeroderma pigmentosum skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching +GARD:7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278700 semapv:UnspecifiedMatching +GARD:7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278720 semapv:UnspecifiedMatching +GARD:7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278730 semapv:UnspecifiedMatching +GARD:7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278740 semapv:UnspecifiedMatching +GARD:7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278760 semapv:UnspecifiedMatching +GARD:7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278780 semapv:UnspecifiedMatching +GARD:7910 Xeroderma pigmentosum skos:narrowMatch OMIM:610651 semapv:UnspecifiedMatching +GARD:7914 Yellow fever skos:exactMatch Orphanet:99829 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:exactMatch Orphanet:912 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:214100 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:214110 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614859 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614862 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614866 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614870 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614872 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614876 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614882 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614883 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614886 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:614887 semapv:UnspecifiedMatching +GARD:7917 Zellweger syndrome skos:narrowMatch OMIM:617370 semapv:UnspecifiedMatching +GARD:7918 Zollinger-Ellison syndrome skos:exactMatch Orphanet:913 semapv:UnspecifiedMatching +GARD:792 Arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch Orphanet:1150 semapv:UnspecifiedMatching +GARD:792 Arthrogryposis multiplex congenita-whistling face syndrome skos:narrowMatch OMIM:208155 semapv:UnspecifiedMatching +GARD:7922 Muscular dystrophy skos:exactMatch Orphanet:98473 semapv:UnspecifiedMatching +GARD:794 Arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch Orphanet:2697 semapv:UnspecifiedMatching +GARD:794 Arthrogryposis-renal dysfunction-cholestasis syndrome skos:narrowMatch OMIM:208085 semapv:UnspecifiedMatching +GARD:794 Arthrogryposis-renal dysfunction-cholestasis syndrome skos:narrowMatch OMIM:613404 semapv:UnspecifiedMatching +GARD:80 Johanson-Blizzard syndrome skos:exactMatch Orphanet:2315 semapv:UnspecifiedMatching +GARD:80 Johanson-Blizzard syndrome skos:narrowMatch OMIM:243800 semapv:UnspecifiedMatching +GARD:802 Atrioventricular septal defect skos:exactMatch Orphanet:98722 semapv:UnspecifiedMatching +GARD:802 Atrioventricular septal defect skos:narrowMatch OMIM:600309 semapv:UnspecifiedMatching +GARD:802 Atrioventricular septal defect skos:narrowMatch OMIM:606215 semapv:UnspecifiedMatching +GARD:802 Atrioventricular septal defect skos:narrowMatch OMIM:606217 semapv:UnspecifiedMatching +GARD:802 Atrioventricular septal defect skos:narrowMatch OMIM:614430 semapv:UnspecifiedMatching +GARD:802 Atrioventricular septal defect skos:narrowMatch OMIM:614474 semapv:UnspecifiedMatching +GARD:802 Atrioventricular septal defect skos:narrowMatch OMIM:615779 semapv:UnspecifiedMatching +GARD:804 Alagille syndrome skos:exactMatch Orphanet:52 semapv:UnspecifiedMatching +GARD:804 Alagille syndrome skos:narrowMatch OMIM:118450 semapv:UnspecifiedMatching +GARD:804 Alagille syndrome skos:narrowMatch OMIM:610205 semapv:UnspecifiedMatching +GARD:806 Spastic paraplegia-facial-cutaneous lesions syndrome skos:exactMatch Orphanet:2819 semapv:UnspecifiedMatching +GARD:809 Balantidiasis skos:exactMatch Orphanet:1223 semapv:UnspecifiedMatching +GARD:81 Intellectual developmental disorder, x-linked, syndromic, turner type skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +GARD:81 Intellectual developmental disorder, x-linked, syndromic, turner type skos:exactMatch OMIM:309590 semapv:UnspecifiedMatching +GARD:812 Bangstad syndrome skos:exactMatch Orphanet:1227 semapv:UnspecifiedMatching +GARD:812 Bangstad syndrome skos:narrowMatch OMIM:210740 semapv:UnspecifiedMatching +GARD:813 Banki syndrome skos:exactMatch Orphanet:1228 semapv:UnspecifiedMatching +GARD:813 Banki syndrome skos:narrowMatch OMIM:109300 semapv:UnspecifiedMatching +GARD:816 Orofaciodigital syndrome type 4 skos:exactMatch Orphanet:2753 semapv:UnspecifiedMatching +GARD:816 Orofaciodigital syndrome type 4 skos:narrowMatch OMIM:258860 semapv:UnspecifiedMatching +GARD:8169 IgG4-related mesenteritis skos:exactMatch Orphanet:238593 semapv:UnspecifiedMatching +GARD:8173 Achondroplasia skos:exactMatch Orphanet:15 semapv:UnspecifiedMatching +GARD:8173 Achondroplasia skos:narrowMatch OMIM:100800 semapv:UnspecifiedMatching +GARD:8174 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch Orphanet:1547 semapv:UnspecifiedMatching +GARD:8174 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:narrowMatch OMIM:123560 semapv:UnspecifiedMatching +GARD:8178 Hypotrichosis 7 skos:broadMatch Orphanet:170 semapv:UnspecifiedMatching +GARD:8178 Hypotrichosis 7 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:8178 Hypotrichosis 7 skos:exactMatch OMIM:604379 semapv:UnspecifiedMatching +GARD:8182 Proximal symphalangism skos:exactMatch Orphanet:3250 semapv:UnspecifiedMatching +GARD:8182 Proximal symphalangism skos:narrowMatch OMIM:185800 semapv:UnspecifiedMatching +GARD:8182 Proximal symphalangism skos:narrowMatch OMIM:615298 semapv:UnspecifiedMatching +GARD:8189 Conotruncal heart malformations skos:exactMatch Orphanet:2445 semapv:UnspecifiedMatching +GARD:8189 Conotruncal heart malformations skos:narrowMatch OMIM:217095 semapv:UnspecifiedMatching +GARD:819 Barber-Say syndrome skos:exactMatch Orphanet:1231 semapv:UnspecifiedMatching +GARD:819 Barber-Say syndrome skos:narrowMatch OMIM:209885 semapv:UnspecifiedMatching +GARD:8194 Cysticercosis skos:exactMatch Orphanet:1560 semapv:UnspecifiedMatching +GARD:8195 Strongyloidiasis skos:exactMatch Orphanet:76 semapv:UnspecifiedMatching +GARD:8197 Smith-Magenis syndrome skos:exactMatch Orphanet:819 semapv:UnspecifiedMatching +GARD:8197 Smith-Magenis syndrome skos:narrowMatch OMIM:182290 semapv:UnspecifiedMatching +GARD:8198 Omenn syndrome skos:exactMatch Orphanet:39041 semapv:UnspecifiedMatching +GARD:8198 Omenn syndrome skos:narrowMatch OMIM:603554 semapv:UnspecifiedMatching +GARD:82 KBG syndrome skos:exactMatch Orphanet:2332 semapv:UnspecifiedMatching +GARD:82 KBG syndrome skos:narrowMatch OMIM:148050 semapv:UnspecifiedMatching +GARD:820 Bardet-biedl syndrome 1 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:820 Bardet-biedl syndrome 1 skos:exactMatch OMIM:209900 semapv:UnspecifiedMatching +GARD:8204 Immunoglobulin A vasculitis skos:exactMatch Orphanet:761 semapv:UnspecifiedMatching +GARD:8206 Congenital generalized hypertrichosis, Ambras type skos:exactMatch Orphanet:1023 semapv:UnspecifiedMatching +GARD:8206 Congenital generalized hypertrichosis, Ambras type skos:narrowMatch OMIM:145701 semapv:UnspecifiedMatching +GARD:8207 Pineocytoma skos:exactMatch Orphanet:251912 semapv:UnspecifiedMatching +GARD:8208 Tropical spastic paraparesis skos:exactMatch Orphanet:289326 semapv:UnspecifiedMatching +GARD:8208 Tropical spastic paraparesis skos:narrowMatch OMIM:159580 semapv:UnspecifiedMatching +GARD:821 Bardet-biedl syndrome 2 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:821 Bardet-biedl syndrome 2 skos:exactMatch OMIM:615981 semapv:UnspecifiedMatching +GARD:8214 Lafora disease skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching +GARD:8214 Lafora disease skos:narrowMatch OMIM:254780 semapv:UnspecifiedMatching +GARD:8216 Mansonelliasis skos:exactMatch Orphanet:2459 semapv:UnspecifiedMatching +GARD:822 Bardet-biedl syndrome 3 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:822 Bardet-biedl syndrome 3 skos:exactMatch OMIM:600151 semapv:UnspecifiedMatching +GARD:8223 B-cell prolymphocytic leukemia skos:exactMatch Orphanet:86852 semapv:UnspecifiedMatching +GARD:8225 Chronic myelomonocytic leukemia skos:exactMatch Orphanet:98823 semapv:UnspecifiedMatching +GARD:823 Bardet-biedl syndrome 4 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +GARD:823 Bardet-biedl syndrome 4 skos:exactMatch OMIM:615982 semapv:UnspecifiedMatching +GARD:8231 Non-Langerhans cell histiocytosis skos:exactMatch Orphanet:157987 semapv:UnspecifiedMatching +GARD:8232 Hemangioblastoma skos:exactMatch Orphanet:252054 semapv:UnspecifiedMatching +GARD:8233 Gaucher disease skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +GARD:8233 Gaucher disease skos:narrowMatch OMIM:230800 semapv:UnspecifiedMatching +GARD:8233 Gaucher disease skos:narrowMatch OMIM:230900 semapv:UnspecifiedMatching +GARD:8233 Gaucher disease skos:narrowMatch OMIM:231000 semapv:UnspecifiedMatching +GARD:8233 Gaucher disease skos:narrowMatch OMIM:231005 semapv:UnspecifiedMatching +GARD:8233 Gaucher disease skos:narrowMatch OMIM:608013 semapv:UnspecifiedMatching +GARD:8233 Gaucher disease skos:narrowMatch OMIM:610539 semapv:UnspecifiedMatching +GARD:8234 Felty syndrome skos:exactMatch Orphanet:47612 semapv:UnspecifiedMatching +GARD:8234 Felty syndrome skos:narrowMatch OMIM:134750 semapv:UnspecifiedMatching +GARD:8238 Choroid plexus carcinoma skos:exactMatch Orphanet:251899 semapv:UnspecifiedMatching +GARD:8238 Choroid plexus carcinoma skos:narrowMatch OMIM:260500 semapv:UnspecifiedMatching +GARD:824 Immunodeficiency by defective expression of MHC class II skos:exactMatch Orphanet:572 semapv:UnspecifiedMatching +GARD:824 Immunodeficiency by defective expression of MHC class II skos:narrowMatch OMIM:209920 semapv:UnspecifiedMatching +GARD:8240 Hypersensitivity pneumonitis, familial skos:broadMatch Orphanet:99908 semapv:UnspecifiedMatching +GARD:8240 Hypersensitivity pneumonitis, familial skos:exactMatch OMIM:145300 semapv:UnspecifiedMatching +GARD:8241 Sea-blue histiocytosis skos:exactMatch Orphanet:158029 semapv:UnspecifiedMatching +GARD:8241 Sea-blue histiocytosis skos:narrowMatch OMIM:269600 semapv:UnspecifiedMatching +GARD:8249 Acquired idiopathic sideroblastic anemia skos:exactMatch Orphanet:75564 semapv:UnspecifiedMatching +GARD:8254 Omsk hemorrhagic fever skos:exactMatch Orphanet:319266 semapv:UnspecifiedMatching +GARD:8257 Kyasanur forest disease skos:exactMatch Orphanet:319254 semapv:UnspecifiedMatching +GARD:8259 Plummer-Vinson syndrome skos:exactMatch Orphanet:54028 semapv:UnspecifiedMatching +GARD:826 Frontometaphyseal dysplasia skos:exactMatch Orphanet:1826 semapv:UnspecifiedMatching +GARD:826 Frontometaphyseal dysplasia skos:narrowMatch OMIM:305620 semapv:UnspecifiedMatching +GARD:826 Frontometaphyseal dysplasia skos:narrowMatch OMIM:617137 semapv:UnspecifiedMatching +GARD:8270 Muscular pseudohypertrophy-hypothyroidism syndrome skos:exactMatch Orphanet:2349 semapv:UnspecifiedMatching +GARD:8275 Keratolytic winter erythema skos:exactMatch Orphanet:50943 semapv:UnspecifiedMatching +GARD:8275 Keratolytic winter erythema skos:narrowMatch OMIM:148370 semapv:UnspecifiedMatching +GARD:8282 Hereditary amyloidosis with primary renal involvement skos:exactMatch Orphanet:85450 semapv:UnspecifiedMatching +GARD:8282 Hereditary amyloidosis with primary renal involvement skos:narrowMatch OMIM:105200 semapv:UnspecifiedMatching +GARD:8283 Diamond-blackfan anemia 2 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +GARD:8283 Diamond-blackfan anemia 2 skos:exactMatch OMIM:606129 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:124000 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:615157 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:615158 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:615159 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:615160 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:615453 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:615824 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:615838 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:616111 semapv:UnspecifiedMatching +GARD:8295 Isolated complex III deficiency skos:narrowMatch OMIM:618775 semapv:UnspecifiedMatching +GARD:83 Autosomal dominant Kenny-Caffey syndrome skos:exactMatch Orphanet:93325 semapv:UnspecifiedMatching +GARD:83 Autosomal dominant Kenny-Caffey syndrome skos:narrowMatch OMIM:127000 semapv:UnspecifiedMatching +GARD:8309 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome skos:exactMatch Orphanet:988 semapv:UnspecifiedMatching +GARD:8309 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome skos:narrowMatch OMIM:188740 semapv:UnspecifiedMatching +GARD:8310 Steinert myotonic dystrophy skos:exactMatch Orphanet:273 semapv:UnspecifiedMatching +GARD:8310 Steinert myotonic dystrophy skos:narrowMatch OMIM:160900 semapv:UnspecifiedMatching +GARD:8312 Pseudo-von Willebrand disease skos:exactMatch Orphanet:52530 semapv:UnspecifiedMatching +GARD:8312 Pseudo-von Willebrand disease skos:narrowMatch OMIM:177820 semapv:UnspecifiedMatching +GARD:8317 Dendritic cell tumor skos:exactMatch Orphanet:98289 semapv:UnspecifiedMatching +GARD:8329 Atelosteogenesis type II skos:exactMatch Orphanet:56304 semapv:UnspecifiedMatching +GARD:8329 Atelosteogenesis type II skos:narrowMatch OMIM:256050 semapv:UnspecifiedMatching +GARD:8331 Mohr-Tranebjaerg syndrome skos:exactMatch Orphanet:52368 semapv:UnspecifiedMatching +GARD:8331 Mohr-Tranebjaerg syndrome skos:narrowMatch OMIM:304700 semapv:UnspecifiedMatching +GARD:8333 Athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69739 semapv:UnspecifiedMatching +GARD:8333 Athabaskan brainstem dysgenesis syndrome skos:narrowMatch OMIM:601536 semapv:UnspecifiedMatching +GARD:8334 Amish nemaline myopathy skos:exactMatch Orphanet:98902 semapv:UnspecifiedMatching +GARD:8334 Amish nemaline myopathy skos:narrowMatch OMIM:605355 semapv:UnspecifiedMatching +GARD:8337 IgG4-related mediastinitis skos:exactMatch Orphanet:63999 semapv:UnspecifiedMatching +GARD:8338 PHACE syndrome skos:exactMatch Orphanet:42775 semapv:UnspecifiedMatching +GARD:8338 PHACE syndrome skos:narrowMatch OMIM:140850 semapv:UnspecifiedMatching +GARD:8338 PHACE syndrome skos:narrowMatch OMIM:606519 semapv:UnspecifiedMatching +GARD:8341 Marinesco-Sjögren syndrome skos:exactMatch Orphanet:559 semapv:UnspecifiedMatching +GARD:8341 Marinesco-Sjögren syndrome skos:narrowMatch OMIM:248800 semapv:UnspecifiedMatching +GARD:8343 Spondylometaphyseal dysplasia, Golden type skos:exactMatch Orphanet:168544 semapv:UnspecifiedMatching +GARD:8343 Spondylometaphyseal dysplasia, Golden type skos:narrowMatch OMIM:313420 semapv:UnspecifiedMatching +GARD:8344 ABri amyloidosis skos:exactMatch Orphanet:97345 semapv:UnspecifiedMatching +GARD:8344 ABri amyloidosis skos:narrowMatch OMIM:176500 semapv:UnspecifiedMatching +GARD:8345 Quebec platelet disorder skos:exactMatch Orphanet:220436 semapv:UnspecifiedMatching +GARD:8345 Quebec platelet disorder skos:narrowMatch OMIM:601709 semapv:UnspecifiedMatching +GARD:8349 Hypomaturation amelogenesis imperfecta skos:exactMatch Orphanet:100033 semapv:UnspecifiedMatching +GARD:8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:204700 semapv:UnspecifiedMatching +GARD:8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:301200 semapv:UnspecifiedMatching +GARD:8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:612529 semapv:UnspecifiedMatching +GARD:8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:613211 semapv:UnspecifiedMatching +GARD:8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:614832 semapv:UnspecifiedMatching +GARD:8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:615887 semapv:UnspecifiedMatching +GARD:8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:617217 semapv:UnspecifiedMatching +GARD:835 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch Orphanet:1875 semapv:UnspecifiedMatching +GARD:835 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:narrowMatch OMIM:254000 semapv:UnspecifiedMatching +GARD:836 Epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch Orphanet:1948 semapv:UnspecifiedMatching +GARD:836 Epilepsy-microcephaly-skeletal dysplasia syndrome skos:narrowMatch OMIM:601352 semapv:UnspecifiedMatching +GARD:8360 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch Orphanet:85332 semapv:UnspecifiedMatching +GARD:8360 X-linked intellectual disability-retinitis pigmentosa syndrome skos:narrowMatch OMIM:300578 semapv:UnspecifiedMatching +GARD:8367 Autosomal recessive Kenny-Caffey syndrome skos:exactMatch Orphanet:93324 semapv:UnspecifiedMatching +GARD:8367 Autosomal recessive Kenny-Caffey syndrome skos:narrowMatch OMIM:244460 semapv:UnspecifiedMatching +GARD:8370 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching +GARD:8370 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:narrowMatch OMIM:220111 semapv:UnspecifiedMatching +GARD:8370 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:narrowMatch OMIM:619065 semapv:UnspecifiedMatching +GARD:8378 Autosomal recessive polycystic kidney disease skos:exactMatch Orphanet:731 semapv:UnspecifiedMatching +GARD:8378 Autosomal recessive polycystic kidney disease skos:narrowMatch OMIM:263200 semapv:UnspecifiedMatching +GARD:8378 Autosomal recessive polycystic kidney disease skos:narrowMatch OMIM:617610 semapv:UnspecifiedMatching +GARD:838 Bazex-Dupré-Christol syndrome skos:exactMatch Orphanet:113 semapv:UnspecifiedMatching +GARD:838 Bazex-Dupré-Christol syndrome skos:narrowMatch OMIM:301845 semapv:UnspecifiedMatching +GARD:8380 Generalized arterial calcification of infancy skos:exactMatch Orphanet:51608 semapv:UnspecifiedMatching +GARD:8380 Generalized arterial calcification of infancy skos:narrowMatch OMIM:208000 semapv:UnspecifiedMatching +GARD:8380 Generalized arterial calcification of infancy skos:narrowMatch OMIM:614473 semapv:UnspecifiedMatching +GARD:8387 3-hydroxy-3-methylglutaric aciduria skos:exactMatch Orphanet:20 semapv:UnspecifiedMatching +GARD:8387 3-hydroxy-3-methylglutaric aciduria skos:narrowMatch OMIM:246450 semapv:UnspecifiedMatching +GARD:8391 Ornithine transcarbamylase deficiency skos:exactMatch Orphanet:664 semapv:UnspecifiedMatching +GARD:8391 Ornithine transcarbamylase deficiency skos:narrowMatch OMIM:311250 semapv:UnspecifiedMatching +GARD:8397 Brain demyelination due to methionine adenosyltransferase deficiency skos:exactMatch Orphanet:168598 semapv:UnspecifiedMatching +GARD:8397 Brain demyelination due to methionine adenosyltransferase deficiency skos:narrowMatch OMIM:250850 semapv:UnspecifiedMatching +GARD:84 Lipodystrophy, congenital generalized, type 1 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +GARD:84 Lipodystrophy, congenital generalized, type 1 skos:exactMatch OMIM:608594 semapv:UnspecifiedMatching +GARD:8406 Spermatogenic failure, x-linked, 1 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:8406 Spermatogenic failure, x-linked, 1 skos:exactMatch OMIM:305700 semapv:UnspecifiedMatching +GARD:8407 Feingold syndrome skos:exactMatch Orphanet:1305 semapv:UnspecifiedMatching +GARD:8407 Feingold syndrome skos:narrowMatch OMIM:164280 semapv:UnspecifiedMatching +GARD:8407 Feingold syndrome skos:narrowMatch OMIM:614326 semapv:UnspecifiedMatching +GARD:8410 Postaxial acrofacial dysostosis skos:exactMatch Orphanet:246 semapv:UnspecifiedMatching +GARD:8410 Postaxial acrofacial dysostosis skos:narrowMatch OMIM:263750 semapv:UnspecifiedMatching +GARD:8414 Van der Woude syndrome skos:exactMatch Orphanet:888 semapv:UnspecifiedMatching +GARD:8414 Van der Woude syndrome skos:narrowMatch OMIM:119300 semapv:UnspecifiedMatching +GARD:8414 Van der Woude syndrome skos:narrowMatch OMIM:604547 semapv:UnspecifiedMatching +GARD:8414 Van der Woude syndrome skos:narrowMatch OMIM:606713 semapv:UnspecifiedMatching +GARD:8416 Focal facial dermal dysplasia skos:exactMatch Orphanet:398166 semapv:UnspecifiedMatching +GARD:8416 Focal facial dermal dysplasia skos:narrowMatch OMIM:136500 semapv:UnspecifiedMatching +GARD:8416 Focal facial dermal dysplasia skos:narrowMatch OMIM:227260 semapv:UnspecifiedMatching +GARD:8416 Focal facial dermal dysplasia skos:narrowMatch OMIM:614973 semapv:UnspecifiedMatching +GARD:8416 Focal facial dermal dysplasia skos:narrowMatch OMIM:614974 semapv:UnspecifiedMatching +GARD:8417 Renal cell carcinoma 4 skos:broadMatch Orphanet:217071 semapv:UnspecifiedMatching +GARD:8419 Isolated optic nerve hypoplasia/aplasia skos:exactMatch Orphanet:137902 semapv:UnspecifiedMatching +GARD:8419 Isolated optic nerve hypoplasia/aplasia skos:narrowMatch OMIM:165550 semapv:UnspecifiedMatching +GARD:842 Ankylosing vertebral hyperostosis with tylosis skos:exactMatch Orphanet:2206 semapv:UnspecifiedMatching +GARD:842 Ankylosing vertebral hyperostosis with tylosis skos:narrowMatch OMIM:106400 semapv:UnspecifiedMatching +GARD:8421 Tetrasomy 12p skos:exactMatch Orphanet:884 semapv:UnspecifiedMatching +GARD:8421 Tetrasomy 12p skos:narrowMatch OMIM:601803 semapv:UnspecifiedMatching +GARD:8422 Peters plus syndrome skos:exactMatch Orphanet:709 semapv:UnspecifiedMatching +GARD:8422 Peters plus syndrome skos:narrowMatch OMIM:261540 semapv:UnspecifiedMatching +GARD:8423 Richards-Rundle syndrome skos:exactMatch Orphanet:1399 semapv:UnspecifiedMatching +GARD:8423 Richards-Rundle syndrome skos:narrowMatch OMIM:245100 semapv:UnspecifiedMatching +GARD:8424 Iminoglycinuria skos:exactMatch Orphanet:42062 semapv:UnspecifiedMatching +GARD:8424 Iminoglycinuria skos:narrowMatch OMIM:242600 semapv:UnspecifiedMatching +GARD:8426 Thyroid hypoplasia skos:exactMatch Orphanet:95720 semapv:UnspecifiedMatching +GARD:8426 Thyroid hypoplasia skos:narrowMatch OMIM:218700 semapv:UnspecifiedMatching +GARD:8426 Thyroid hypoplasia skos:narrowMatch OMIM:225250 semapv:UnspecifiedMatching +GARD:8427 Immunodeficiency by defective expression of MHC class I skos:exactMatch Orphanet:34592 semapv:UnspecifiedMatching +GARD:8427 Immunodeficiency by defective expression of MHC class I skos:narrowMatch OMIM:241600 semapv:UnspecifiedMatching +GARD:8427 Immunodeficiency by defective expression of MHC class I skos:narrowMatch OMIM:604571 semapv:UnspecifiedMatching +GARD:8428 Crane-Heise syndrome skos:exactMatch Orphanet:1512 semapv:UnspecifiedMatching +GARD:8428 Crane-Heise syndrome skos:narrowMatch OMIM:218090 semapv:UnspecifiedMatching +GARD:8432 Native American myopathy skos:exactMatch Orphanet:168572 semapv:UnspecifiedMatching +GARD:8432 Native American myopathy skos:narrowMatch OMIM:255995 semapv:UnspecifiedMatching +GARD:8433 King-Denborough syndrome skos:exactMatch Orphanet:99741 semapv:UnspecifiedMatching +GARD:8433 King-Denborough syndrome skos:narrowMatch OMIM:145600 semapv:UnspecifiedMatching +GARD:8435 Persistent Müllerian duct syndrome skos:exactMatch Orphanet:2856 semapv:UnspecifiedMatching +GARD:8435 Persistent Müllerian duct syndrome skos:narrowMatch OMIM:261550 semapv:UnspecifiedMatching +GARD:8436 Frontotemporal dementia skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching +GARD:8436 Frontotemporal dementia skos:narrowMatch OMIM:172700 semapv:UnspecifiedMatching +GARD:8436 Frontotemporal dementia skos:narrowMatch OMIM:600274 semapv:UnspecifiedMatching +GARD:8436 Frontotemporal dementia skos:narrowMatch OMIM:600795 semapv:UnspecifiedMatching +GARD:8436 Frontotemporal dementia skos:narrowMatch OMIM:607485 semapv:UnspecifiedMatching +GARD:8438 Isolated anterior cervical hypertrichosis skos:exactMatch Orphanet:3387 semapv:UnspecifiedMatching +GARD:8438 Isolated anterior cervical hypertrichosis skos:narrowMatch OMIM:600457 semapv:UnspecifiedMatching +GARD:844 Myotonia congenita, autosomal recessive skos:broadMatch Orphanet:614 semapv:UnspecifiedMatching +GARD:844 Myotonia congenita, autosomal recessive skos:exactMatch OMIM:255700 semapv:UnspecifiedMatching +GARD:8449 Keutel syndrome skos:exactMatch Orphanet:85202 semapv:UnspecifiedMatching +GARD:8449 Keutel syndrome skos:narrowMatch OMIM:245150 semapv:UnspecifiedMatching +GARD:8457 Tumor necrosis factor receptor 1 associated periodic syndrome skos:exactMatch Orphanet:32960 semapv:UnspecifiedMatching +GARD:8457 Tumor necrosis factor receptor 1 associated periodic syndrome skos:narrowMatch OMIM:142680 semapv:UnspecifiedMatching +GARD:846 Beemer-Ertbruggen syndrome skos:exactMatch Orphanet:1237 semapv:UnspecifiedMatching +GARD:846 Beemer-Ertbruggen syndrome skos:narrowMatch OMIM:209970 semapv:UnspecifiedMatching +GARD:8466 Autoimmune polyendocrinopathy type 1 skos:exactMatch Orphanet:3453 semapv:UnspecifiedMatching +GARD:8466 Autoimmune polyendocrinopathy type 1 skos:narrowMatch OMIM:240300 semapv:UnspecifiedMatching +GARD:8468 Melanoma and neural system tumor syndrome skos:exactMatch Orphanet:252206 semapv:UnspecifiedMatching +GARD:8468 Melanoma and neural system tumor syndrome skos:narrowMatch OMIM:155755 semapv:UnspecifiedMatching +GARD:8471 X-linked recessive ocular albinism skos:exactMatch Orphanet:54 semapv:UnspecifiedMatching +GARD:8471 X-linked recessive ocular albinism skos:narrowMatch OMIM:300500 semapv:UnspecifiedMatching +GARD:8472 Muckle-Wells syndrome skos:exactMatch Orphanet:575 semapv:UnspecifiedMatching +GARD:8472 Muckle-Wells syndrome skos:narrowMatch OMIM:191900 semapv:UnspecifiedMatching +GARD:8476 Leber plus disease skos:exactMatch Orphanet:99718 semapv:UnspecifiedMatching +GARD:8476 Leber plus disease skos:narrowMatch OMIM:165200 semapv:UnspecifiedMatching +GARD:8476 Leber plus disease skos:narrowMatch OMIM:500001 semapv:UnspecifiedMatching +GARD:8479 Familial multiple discoid fibromas skos:exactMatch Orphanet:538756 semapv:UnspecifiedMatching +GARD:8479 Familial multiple discoid fibromas skos:narrowMatch OMIM:190340 semapv:UnspecifiedMatching +GARD:848 Behçet disease skos:exactMatch Orphanet:117 semapv:UnspecifiedMatching +GARD:848 Behçet disease skos:narrowMatch OMIM:109650 semapv:UnspecifiedMatching +GARD:8480 Autosomal recessive cutis laxa type 1 skos:exactMatch Orphanet:90349 semapv:UnspecifiedMatching +GARD:8480 Autosomal recessive cutis laxa type 1 skos:narrowMatch OMIM:219100 semapv:UnspecifiedMatching +GARD:8480 Autosomal recessive cutis laxa type 1 skos:narrowMatch OMIM:614437 semapv:UnspecifiedMatching +GARD:8485 Acropectoral syndrome skos:exactMatch Orphanet:85203 semapv:UnspecifiedMatching +GARD:8485 Acropectoral syndrome skos:narrowMatch OMIM:605967 semapv:UnspecifiedMatching +GARD:8486 Musculocontractural Ehlers-Danlos syndrome skos:exactMatch Orphanet:2953 semapv:UnspecifiedMatching +GARD:8486 Musculocontractural Ehlers-Danlos syndrome skos:narrowMatch OMIM:601776 semapv:UnspecifiedMatching +GARD:8486 Musculocontractural Ehlers-Danlos syndrome skos:narrowMatch OMIM:615539 semapv:UnspecifiedMatching +GARD:8487 Infantile digital fibromatosis skos:exactMatch Orphanet:199267 semapv:UnspecifiedMatching +GARD:8488 Familial papillary or follicular thyroid carcinoma skos:exactMatch Orphanet:319487 semapv:UnspecifiedMatching +GARD:8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:188470 semapv:UnspecifiedMatching +GARD:8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:188550 semapv:UnspecifiedMatching +GARD:8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:603386 semapv:UnspecifiedMatching +GARD:8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:603744 semapv:UnspecifiedMatching +GARD:8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:606240 semapv:UnspecifiedMatching +GARD:8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:616534 semapv:UnspecifiedMatching +GARD:8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:616535 semapv:UnspecifiedMatching +GARD:8491 Meningioma, radiation-induced skos:broadMatch Orphanet:2495 semapv:UnspecifiedMatching +GARD:8491 Meningioma, radiation-induced skos:exactMatch OMIM:606190 semapv:UnspecifiedMatching +GARD:8495 African iron overload skos:exactMatch Orphanet:139507 semapv:UnspecifiedMatching +GARD:8495 African iron overload skos:narrowMatch OMIM:601195 semapv:UnspecifiedMatching +GARD:8497 Usher syndrome, type iic skos:broadMatch Orphanet:231178 semapv:UnspecifiedMatching +GARD:8497 Usher syndrome, type iic skos:exactMatch OMIM:605472 semapv:UnspecifiedMatching +GARD:85 Thanatophoric dysplasia skos:exactMatch Orphanet:2655 semapv:UnspecifiedMatching +GARD:85 Thanatophoric dysplasia skos:narrowMatch OMIM:156830 semapv:UnspecifiedMatching +GARD:85 Thanatophoric dysplasia skos:narrowMatch OMIM:187600 semapv:UnspecifiedMatching +GARD:85 Thanatophoric dysplasia skos:narrowMatch OMIM:187601 semapv:UnspecifiedMatching +GARD:8501 White sponge nevus skos:exactMatch Orphanet:171723 semapv:UnspecifiedMatching +GARD:8501 White sponge nevus skos:narrowMatch OMIM:193900 semapv:UnspecifiedMatching +GARD:8501 White sponge nevus skos:narrowMatch OMIM:615785 semapv:UnspecifiedMatching +GARD:8505 X-linked Ehlers-Danlos syndrome skos:exactMatch Orphanet:75497 semapv:UnspecifiedMatching +GARD:8507 Classical-like Ehlers-Danlos syndrome type 1 skos:exactMatch Orphanet:230839 semapv:UnspecifiedMatching +GARD:8507 Classical-like Ehlers-Danlos syndrome type 1 skos:narrowMatch OMIM:606408 semapv:UnspecifiedMatching +GARD:8509 AREDYLD syndrome skos:exactMatch Orphanet:1133 semapv:UnspecifiedMatching +GARD:8509 AREDYLD syndrome skos:narrowMatch OMIM:207780 semapv:UnspecifiedMatching +GARD:8517 Huriez syndrome skos:exactMatch Orphanet:384 semapv:UnspecifiedMatching +GARD:8517 Huriez syndrome skos:narrowMatch OMIM:181600 semapv:UnspecifiedMatching +GARD:8520 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome skos:exactMatch Orphanet:1568 semapv:UnspecifiedMatching +GARD:8520 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome skos:narrowMatch OMIM:304340 semapv:UnspecifiedMatching +GARD:8521 Infantile-onset X-linked spinal muscular atrophy skos:exactMatch Orphanet:1145 semapv:UnspecifiedMatching +GARD:8521 Infantile-onset X-linked spinal muscular atrophy skos:narrowMatch OMIM:301830 semapv:UnspecifiedMatching +GARD:8526 Diffuse panbronchiolitis skos:exactMatch Orphanet:171700 semapv:UnspecifiedMatching +GARD:8526 Diffuse panbronchiolitis skos:narrowMatch OMIM:604809 semapv:UnspecifiedMatching +GARD:8527 Pulmonary venoocclusive disease 2, autosomal recessive skos:broadMatch Orphanet:199241 semapv:UnspecifiedMatching +GARD:8527 Pulmonary venoocclusive disease 2, autosomal recessive skos:exactMatch OMIM:234810 semapv:UnspecifiedMatching +GARD:8528 HELLP syndrome skos:exactMatch Orphanet:244242 semapv:UnspecifiedMatching +GARD:8529 Macrodactyly of fingers skos:exactMatch Orphanet:295044 semapv:UnspecifiedMatching +GARD:853 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:exactMatch Orphanet:100978 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:108420 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:258150 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:270960 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:305700 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:309120 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:613957 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615081 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615413 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615841 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615842 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:616950 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617706 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617707 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617960 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618086 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618110 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618115 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:619108 semapv:UnspecifiedMatching +GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:619202 semapv:UnspecifiedMatching +GARD:8531 3mc syndrome 3 skos:broadMatch Orphanet:293843 semapv:UnspecifiedMatching +GARD:8531 3mc syndrome 3 skos:exactMatch OMIM:248340 semapv:UnspecifiedMatching +GARD:8532 Attenuated familial adenomatous polyposis skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching +GARD:8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +GARD:8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:608456 semapv:UnspecifiedMatching +GARD:8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:612591 semapv:UnspecifiedMatching +GARD:8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:615083 semapv:UnspecifiedMatching +GARD:8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:616415 semapv:UnspecifiedMatching +GARD:8533 Hereditary nonpolyposis colon cancer skos:exactMatch Orphanet:443909 semapv:UnspecifiedMatching +GARD:8535 Congenital central hypoventilation syndrome skos:exactMatch Orphanet:661 semapv:UnspecifiedMatching +GARD:8535 Congenital central hypoventilation syndrome skos:narrowMatch OMIM:209880 semapv:UnspecifiedMatching +GARD:8538 46,XY disorder of sex development skos:exactMatch Orphanet:98085 semapv:UnspecifiedMatching +GARD:8539 Urocanic aciduria skos:exactMatch Orphanet:210128 semapv:UnspecifiedMatching +GARD:8539 Urocanic aciduria skos:narrowMatch OMIM:276880 semapv:UnspecifiedMatching +GARD:8541 Primary progressive aphasia skos:exactMatch Orphanet:95432 semapv:UnspecifiedMatching +GARD:8542 Chondrodysplasia punctata skos:exactMatch Orphanet:93442 semapv:UnspecifiedMatching +GARD:8547 Gitelman syndrome skos:exactMatch Orphanet:358 semapv:UnspecifiedMatching +GARD:8547 Gitelman syndrome skos:narrowMatch OMIM:263800 semapv:UnspecifiedMatching +GARD:8548 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch Orphanet:98856 semapv:UnspecifiedMatching +GARD:8548 Charcot-Marie-Tooth disease type 2B1 skos:narrowMatch OMIM:605588 semapv:UnspecifiedMatching +GARD:8549 Moebius syndrome skos:exactMatch Orphanet:570 semapv:UnspecifiedMatching +GARD:8549 Moebius syndrome skos:narrowMatch OMIM:157900 semapv:UnspecifiedMatching +GARD:8550 Dermatopathia pigmentosa reticularis skos:exactMatch Orphanet:86920 semapv:UnspecifiedMatching +GARD:8550 Dermatopathia pigmentosa reticularis skos:narrowMatch OMIM:125595 semapv:UnspecifiedMatching +GARD:8553 Infantile convulsions and choreoathetosis skos:exactMatch Orphanet:31709 semapv:UnspecifiedMatching +GARD:8553 Infantile convulsions and choreoathetosis skos:narrowMatch OMIM:602066 semapv:UnspecifiedMatching +GARD:8555 Dense deposit disease skos:exactMatch Orphanet:93571 semapv:UnspecifiedMatching +GARD:8555 Dense deposit disease skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +GARD:8557 Intellectual developmental disorder, x-linked 14 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +GARD:8557 Intellectual developmental disorder, x-linked 14 skos:exactMatch OMIM:300062 semapv:UnspecifiedMatching +GARD:8559 Wilms tumor 2 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +GARD:8559 Wilms tumor 2 skos:exactMatch OMIM:194071 semapv:UnspecifiedMatching +GARD:856 Seizures, benign familial infantile, 1 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +GARD:856 Seizures, benign familial infantile, 1 skos:exactMatch OMIM:601764 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:210600 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:600546 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:606744 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:613676 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:613823 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:615807 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:616051 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:616171 semapv:UnspecifiedMatching +GARD:8562 Seckel syndrome skos:narrowMatch OMIM:616777 semapv:UnspecifiedMatching +GARD:8563 Primary orthostatic tremor skos:exactMatch Orphanet:238606 semapv:UnspecifiedMatching +GARD:857 Benign familial infantile epilepsy skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching +GARD:857 Benign familial infantile epilepsy skos:narrowMatch OMIM:601764 semapv:UnspecifiedMatching +GARD:857 Benign familial infantile epilepsy skos:narrowMatch OMIM:605751 semapv:UnspecifiedMatching +GARD:857 Benign familial infantile epilepsy skos:narrowMatch OMIM:607745 semapv:UnspecifiedMatching +GARD:857 Benign familial infantile epilepsy skos:narrowMatch OMIM:612627 semapv:UnspecifiedMatching +GARD:857 Benign familial infantile epilepsy skos:narrowMatch OMIM:617080 semapv:UnspecifiedMatching +GARD:8570 Steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:exactMatch Orphanet:83601 semapv:UnspecifiedMatching +GARD:8573 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 skos:exactMatch Orphanet:219 semapv:UnspecifiedMatching +GARD:8573 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 skos:narrowMatch OMIM:601287 semapv:UnspecifiedMatching +GARD:8574 Dysferlin-related limb-girdle muscular dystrophy R2 skos:exactMatch Orphanet:268 semapv:UnspecifiedMatching +GARD:8574 Dysferlin-related limb-girdle muscular dystrophy R2 skos:narrowMatch OMIM:253601 semapv:UnspecifiedMatching +GARD:8577 Panuveitis skos:exactMatch Orphanet:280898 semapv:UnspecifiedMatching +GARD:8578 Parkinson disease 3, autosomal dominant skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:8578 Parkinson disease 3, autosomal dominant skos:exactMatch OMIM:602404 semapv:UnspecifiedMatching +GARD:8580 Vitamin K antagonist embryofetopathy skos:exactMatch Orphanet:1914 semapv:UnspecifiedMatching +GARD:8583 Isolated hereditary congenital facial paralysis skos:exactMatch Orphanet:306527 semapv:UnspecifiedMatching +GARD:8583 Isolated hereditary congenital facial paralysis skos:narrowMatch OMIM:601471 semapv:UnspecifiedMatching +GARD:8585 Cantú syndrome skos:exactMatch Orphanet:1517 semapv:UnspecifiedMatching +GARD:8585 Cantú syndrome skos:narrowMatch OMIM:239850 semapv:UnspecifiedMatching +GARD:8586 Cardiocranial syndrome, Pfeiffer type skos:exactMatch Orphanet:2872 semapv:UnspecifiedMatching +GARD:8586 Cardiocranial syndrome, Pfeiffer type skos:narrowMatch OMIM:218450 semapv:UnspecifiedMatching +GARD:8588 Hypercholesterolemia, familial, 2 skos:broadMatch Orphanet:391665 semapv:UnspecifiedMatching +GARD:8588 Hypercholesterolemia, familial, 2 skos:exactMatch OMIM:144010 semapv:UnspecifiedMatching +GARD:8591 X-linked visceral heterotaxy 1 skos:broadMatch Orphanet:450 semapv:UnspecifiedMatching +GARD:8591 X-linked visceral heterotaxy 1 skos:relatedMatch OMIM:306955 semapv:UnspecifiedMatching +GARD:8592 Spinal muscular atrophy with respiratory distress type 1 skos:exactMatch Orphanet:98920 semapv:UnspecifiedMatching +GARD:8592 Spinal muscular atrophy with respiratory distress type 1 skos:narrowMatch OMIM:604320 semapv:UnspecifiedMatching +GARD:8593 Morgagni-Stewart-Morel syndrome skos:exactMatch Orphanet:77296 semapv:UnspecifiedMatching +GARD:8593 Morgagni-Stewart-Morel syndrome skos:narrowMatch OMIM:144800 semapv:UnspecifiedMatching +GARD:8595 Ataxia with vitamin E deficiency skos:exactMatch Orphanet:96 semapv:UnspecifiedMatching +GARD:8595 Ataxia with vitamin E deficiency skos:narrowMatch OMIM:277460 semapv:UnspecifiedMatching +GARD:8598 Gastrointestinal stromal tumor skos:exactMatch Orphanet:44890 semapv:UnspecifiedMatching +GARD:8598 Gastrointestinal stromal tumor skos:narrowMatch OMIM:175510 semapv:UnspecifiedMatching +GARD:8598 Gastrointestinal stromal tumor skos:narrowMatch OMIM:606764 semapv:UnspecifiedMatching +GARD:86 Chudley-McCullough syndrome skos:exactMatch Orphanet:314597 semapv:UnspecifiedMatching +GARD:86 Chudley-McCullough syndrome skos:narrowMatch OMIM:604213 semapv:UnspecifiedMatching +GARD:860 Cryptorchidism-arachnodactyly-intellectual disability syndrome skos:exactMatch Orphanet:1548 semapv:UnspecifiedMatching +GARD:8600 Saldino-Mainzer syndrome skos:exactMatch Orphanet:140969 semapv:UnspecifiedMatching +GARD:8600 Saldino-Mainzer syndrome skos:narrowMatch OMIM:266920 semapv:UnspecifiedMatching +GARD:8600 Saldino-Mainzer syndrome skos:narrowMatch OMIM:615630 semapv:UnspecifiedMatching +GARD:8605 Acquired angioedema skos:exactMatch Orphanet:91385 semapv:UnspecifiedMatching +GARD:8605 Acquired angioedema skos:narrowMatch OMIM:300909 semapv:UnspecifiedMatching +GARD:8606 Amish lethal microcephaly skos:exactMatch Orphanet:99742 semapv:UnspecifiedMatching +GARD:8606 Amish lethal microcephaly skos:narrowMatch OMIM:607196 semapv:UnspecifiedMatching +GARD:8609 Idiopathic pulmonary fibrosis skos:exactMatch Orphanet:2032 semapv:UnspecifiedMatching +GARD:8609 Idiopathic pulmonary fibrosis skos:narrowMatch OMIM:178500 semapv:UnspecifiedMatching +GARD:8609 Idiopathic pulmonary fibrosis skos:narrowMatch OMIM:616371 semapv:UnspecifiedMatching +GARD:8609 Idiopathic pulmonary fibrosis skos:narrowMatch OMIM:616373 semapv:UnspecifiedMatching +GARD:8610 Harlequin syndrome skos:exactMatch Orphanet:199282 semapv:UnspecifiedMatching +GARD:8614 Sickle cell anemia skos:exactMatch Orphanet:232 semapv:UnspecifiedMatching +GARD:8614 Sickle cell anemia skos:narrowMatch OMIM:603903 semapv:UnspecifiedMatching +GARD:8616 Systemic mastocytosis skos:exactMatch Orphanet:2467 semapv:UnspecifiedMatching +GARD:8618 Primary myelofibrosis skos:exactMatch Orphanet:824 semapv:UnspecifiedMatching +GARD:8618 Primary myelofibrosis skos:narrowMatch OMIM:254450 semapv:UnspecifiedMatching +GARD:8621 Uveal melanoma skos:exactMatch Orphanet:39044 semapv:UnspecifiedMatching +GARD:8621 Uveal melanoma skos:narrowMatch OMIM:155720 semapv:UnspecifiedMatching +GARD:8621 Uveal melanoma skos:narrowMatch OMIM:606660 semapv:UnspecifiedMatching +GARD:8621 Uveal melanoma skos:narrowMatch OMIM:606661 semapv:UnspecifiedMatching +GARD:8622 Good syndrome skos:exactMatch Orphanet:169105 semapv:UnspecifiedMatching +GARD:8623 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome skos:exactMatch Orphanet:2521 semapv:UnspecifiedMatching +GARD:8625 Reticular dysgenesis skos:exactMatch Orphanet:33355 semapv:UnspecifiedMatching +GARD:8625 Reticular dysgenesis skos:narrowMatch OMIM:267500 semapv:UnspecifiedMatching +GARD:8631 Monosomy 18p skos:exactMatch Orphanet:1598 semapv:UnspecifiedMatching +GARD:8631 Monosomy 18p skos:narrowMatch OMIM:146390 semapv:UnspecifiedMatching +GARD:8638 Acute leukemia of ambiguous lineage skos:exactMatch Orphanet:86851 semapv:UnspecifiedMatching +GARD:8638 Acute leukemia of ambiguous lineage skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +GARD:8639 Acute disseminated encephalomyelitis skos:exactMatch Orphanet:83597 semapv:UnspecifiedMatching +GARD:8640 Acute zonal occult outer retinopathy skos:exactMatch Orphanet:284454 semapv:UnspecifiedMatching +GARD:8644 Congenital alveolar capillary dysplasia skos:exactMatch Orphanet:210122 semapv:UnspecifiedMatching +GARD:8644 Congenital alveolar capillary dysplasia skos:narrowMatch OMIM:265380 semapv:UnspecifiedMatching +GARD:8653 Erythema elevatum diutinum skos:exactMatch Orphanet:90000 semapv:UnspecifiedMatching +GARD:8659 Fibular hemimelia skos:exactMatch Orphanet:93323 semapv:UnspecifiedMatching +GARD:8660 Gerstmann syndrome skos:exactMatch Orphanet:221117 semapv:UnspecifiedMatching +GARD:8661 Gastroschisis skos:exactMatch Orphanet:2368 semapv:UnspecifiedMatching +GARD:8661 Gastroschisis skos:narrowMatch OMIM:230750 semapv:UnspecifiedMatching +GARD:8663 Auriculoosteodysplasia skos:exactMatch Orphanet:114 semapv:UnspecifiedMatching +GARD:8663 Auriculoosteodysplasia skos:narrowMatch OMIM:109000 semapv:UnspecifiedMatching +GARD:867 Chronic beryllium disease skos:exactMatch Orphanet:133 semapv:UnspecifiedMatching +GARD:8672 Kleefstra syndrome skos:exactMatch Orphanet:261494 semapv:UnspecifiedMatching +GARD:8672 Kleefstra syndrome skos:narrowMatch OMIM:610253 semapv:UnspecifiedMatching +GARD:8683 Crigler-Najjar syndrome type 2 skos:exactMatch Orphanet:79235 semapv:UnspecifiedMatching +GARD:8683 Crigler-Najjar syndrome type 2 skos:narrowMatch OMIM:606785 semapv:UnspecifiedMatching +GARD:8686 Autoimmune lymphoproliferative syndrome skos:exactMatch Orphanet:3261 semapv:UnspecifiedMatching +GARD:8686 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:601859 semapv:UnspecifiedMatching +GARD:8686 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:603909 semapv:UnspecifiedMatching +GARD:8686 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:615559 semapv:UnspecifiedMatching +GARD:8686 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:618534 semapv:UnspecifiedMatching +GARD:8689 Severe immune-mediated enteropathy skos:exactMatch Orphanet:94075 semapv:UnspecifiedMatching +GARD:869 Beta-mannosidosis skos:exactMatch Orphanet:118 semapv:UnspecifiedMatching +GARD:869 Beta-mannosidosis skos:narrowMatch OMIM:248510 semapv:UnspecifiedMatching +GARD:8692 Whooping cough skos:exactMatch Orphanet:1489 semapv:UnspecifiedMatching +GARD:8694 Osteogenesis imperfecta type 1 skos:exactMatch Orphanet:216796 semapv:UnspecifiedMatching +GARD:8694 Osteogenesis imperfecta type 1 skos:narrowMatch OMIM:166200 semapv:UnspecifiedMatching +GARD:8694 Osteogenesis imperfecta type 1 skos:narrowMatch OMIM:166230 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:exactMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:259420 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:259440 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:610682 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:610915 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:610968 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:613848 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:613982 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:614856 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:615220 semapv:UnspecifiedMatching +GARD:8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:616229 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:exactMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:166220 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:259440 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:610682 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:610968 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:613849 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:613982 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:615066 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:615220 semapv:UnspecifiedMatching +GARD:8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:616507 semapv:UnspecifiedMatching +GARD:8698 Gnathodiaphyseal dysplasia skos:exactMatch Orphanet:53697 semapv:UnspecifiedMatching +GARD:8698 Gnathodiaphyseal dysplasia skos:narrowMatch OMIM:166260 semapv:UnspecifiedMatching +GARD:8699 Osteogenesis imperfecta type 5 skos:exactMatch Orphanet:216828 semapv:UnspecifiedMatching +GARD:8699 Osteogenesis imperfecta type 5 skos:narrowMatch OMIM:610967 semapv:UnspecifiedMatching +GARD:87 Microphthalmia, Lenz type skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching +GARD:87 Microphthalmia, Lenz type skos:narrowMatch OMIM:300166 semapv:UnspecifiedMatching +GARD:87 Microphthalmia, Lenz type skos:narrowMatch OMIM:309800 semapv:UnspecifiedMatching +GARD:8700 Osteogenesis imperfecta, type vi skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:8700 Osteogenesis imperfecta, type vi skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:8700 Osteogenesis imperfecta, type vi skos:exactMatch OMIM:613982 semapv:UnspecifiedMatching +GARD:8701 Osteogenesis imperfecta, type vii skos:broadMatch Orphanet:216804 semapv:UnspecifiedMatching +GARD:8701 Osteogenesis imperfecta, type vii skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +GARD:8701 Osteogenesis imperfecta, type vii skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +GARD:8701 Osteogenesis imperfecta, type vii skos:exactMatch OMIM:610682 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:exactMatch Orphanet:2134 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:235400 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612922 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612923 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612924 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612925 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612926 semapv:UnspecifiedMatching +GARD:8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +GARD:8703 Primary angiitis of the central nervous system skos:exactMatch Orphanet:140989 semapv:UnspecifiedMatching +GARD:8707 Tibial hemimelia skos:exactMatch Orphanet:93322 semapv:UnspecifiedMatching +GARD:8707 Tibial hemimelia skos:narrowMatch OMIM:275220 semapv:UnspecifiedMatching +GARD:8709 Patella aplasia/hypoplasia skos:exactMatch Orphanet:86789 semapv:UnspecifiedMatching +GARD:8709 Patella aplasia/hypoplasia skos:narrowMatch OMIM:168860 semapv:UnspecifiedMatching +GARD:871 Beta-thalassemia skos:exactMatch Orphanet:848 semapv:UnspecifiedMatching +GARD:871 Beta-thalassemia skos:narrowMatch OMIM:603902 semapv:UnspecifiedMatching +GARD:871 Beta-thalassemia skos:narrowMatch OMIM:613985 semapv:UnspecifiedMatching +GARD:8711 Spheroid body myopathy skos:exactMatch Orphanet:268129 semapv:UnspecifiedMatching +GARD:8711 Spheroid body myopathy skos:narrowMatch OMIM:182920 semapv:UnspecifiedMatching +GARD:8713 Achondrogenesis type 2 skos:exactMatch Orphanet:93296 semapv:UnspecifiedMatching +GARD:8713 Achondrogenesis type 2 skos:narrowMatch OMIM:200610 semapv:UnspecifiedMatching +GARD:8717 Odontochondrodysplasia skos:exactMatch Orphanet:166272 semapv:UnspecifiedMatching +GARD:8717 Odontochondrodysplasia skos:narrowMatch OMIM:184260 semapv:UnspecifiedMatching +GARD:8719 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch Orphanet:168552 semapv:UnspecifiedMatching +GARD:8719 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:narrowMatch OMIM:607543 semapv:UnspecifiedMatching +GARD:872 Beta-ketothiolase deficiency skos:exactMatch Orphanet:134 semapv:UnspecifiedMatching +GARD:872 Beta-ketothiolase deficiency skos:narrowMatch OMIM:203750 semapv:UnspecifiedMatching +GARD:8720 Axial spondylometaphyseal dysplasia skos:exactMatch Orphanet:168549 semapv:UnspecifiedMatching +GARD:8720 Axial spondylometaphyseal dysplasia skos:narrowMatch OMIM:602271 semapv:UnspecifiedMatching +GARD:8721 Paroxysmal kinesigenic dyskinesia skos:exactMatch Orphanet:98809 semapv:UnspecifiedMatching +GARD:8721 Paroxysmal kinesigenic dyskinesia skos:narrowMatch OMIM:128200 semapv:UnspecifiedMatching +GARD:8721 Paroxysmal kinesigenic dyskinesia skos:narrowMatch OMIM:611031 semapv:UnspecifiedMatching +GARD:8722 Paroxysmal non-kinesigenic dyskinesia skos:exactMatch Orphanet:98810 semapv:UnspecifiedMatching +GARD:8722 Paroxysmal non-kinesigenic dyskinesia skos:narrowMatch OMIM:118800 semapv:UnspecifiedMatching +GARD:8722 Paroxysmal non-kinesigenic dyskinesia skos:narrowMatch OMIM:611147 semapv:UnspecifiedMatching +GARD:8723 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality skos:exactMatch Orphanet:86841 semapv:UnspecifiedMatching +GARD:8723 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality skos:narrowMatch OMIM:153550 semapv:UnspecifiedMatching +GARD:873 Bethlem myopathy skos:exactMatch Orphanet:610 semapv:UnspecifiedMatching +GARD:873 Bethlem myopathy skos:narrowMatch OMIM:158810 semapv:UnspecifiedMatching +GARD:873 Bethlem myopathy skos:narrowMatch OMIM:616471 semapv:UnspecifiedMatching +GARD:8732 Hemophilia B skos:exactMatch Orphanet:98879 semapv:UnspecifiedMatching +GARD:8732 Hemophilia B skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +GARD:8735 Childhood-onset hypophosphatasia skos:exactMatch Orphanet:247667 semapv:UnspecifiedMatching +GARD:8735 Childhood-onset hypophosphatasia skos:narrowMatch OMIM:241510 semapv:UnspecifiedMatching +GARD:8737 Idiopathic hypersomnia skos:exactMatch Orphanet:33208 semapv:UnspecifiedMatching +GARD:8743 Meckel syndrome, type 2 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:8743 Meckel syndrome, type 2 skos:exactMatch OMIM:603194 semapv:UnspecifiedMatching +GARD:8744 Meckel syndrome, type 3 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +GARD:8744 Meckel syndrome, type 3 skos:exactMatch OMIM:607361 semapv:UnspecifiedMatching +GARD:8754 Greenberg dysplasia skos:exactMatch Orphanet:1426 semapv:UnspecifiedMatching +GARD:8754 Greenberg dysplasia skos:narrowMatch OMIM:215140 semapv:UnspecifiedMatching +GARD:8755 Arrhinia-choanal atresia-microphthalmia syndrome skos:exactMatch Orphanet:1135 semapv:UnspecifiedMatching +GARD:8755 Arrhinia-choanal atresia-microphthalmia syndrome skos:narrowMatch OMIM:603457 semapv:UnspecifiedMatching +GARD:8756 Lethal ataxia with deafness and optic atrophy skos:exactMatch Orphanet:1187 semapv:UnspecifiedMatching +GARD:8756 Lethal ataxia with deafness and optic atrophy skos:narrowMatch OMIM:301835 semapv:UnspecifiedMatching +GARD:8757 Pleuropulmonary blastoma skos:exactMatch Orphanet:64742 semapv:UnspecifiedMatching +GARD:8757 Pleuropulmonary blastoma skos:narrowMatch OMIM:601200 semapv:UnspecifiedMatching +GARD:8759 Ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 semapv:UnspecifiedMatching +GARD:88 Leri pleonosteosis skos:exactMatch Orphanet:2900 semapv:UnspecifiedMatching +GARD:88 Leri pleonosteosis skos:narrowMatch OMIM:151200 semapv:UnspecifiedMatching +GARD:882 Biemond syndrome type 2 skos:exactMatch Orphanet:141333 semapv:UnspecifiedMatching +GARD:882 Biemond syndrome type 2 skos:narrowMatch OMIM:210350 semapv:UnspecifiedMatching +GARD:884 Bifid nose skos:exactMatch Orphanet:2695 semapv:UnspecifiedMatching +GARD:884 Bifid nose skos:narrowMatch OMIM:109740 semapv:UnspecifiedMatching +GARD:884 Bifid nose skos:narrowMatch OMIM:210400 semapv:UnspecifiedMatching +GARD:893 Fallot complex-intellectual disability-growth delay syndrome skos:exactMatch Orphanet:3304 semapv:UnspecifiedMatching +GARD:893 Fallot complex-intellectual disability-growth delay syndrome skos:narrowMatch OMIM:601127 semapv:UnspecifiedMatching +GARD:894 Biotinidase deficiency skos:exactMatch Orphanet:79241 semapv:UnspecifiedMatching +GARD:894 Biotinidase deficiency skos:narrowMatch OMIM:253260 semapv:UnspecifiedMatching +GARD:895 Microcephalic primordial dwarfism, Montreal type skos:exactMatch Orphanet:2617 semapv:UnspecifiedMatching +GARD:895 Microcephalic primordial dwarfism, Montreal type skos:narrowMatch OMIM:210700 semapv:UnspecifiedMatching +GARD:897 Hypertelorism-microtia-facial clefting syndrome skos:exactMatch Orphanet:2213 semapv:UnspecifiedMatching +GARD:897 Hypertelorism-microtia-facial clefting syndrome skos:narrowMatch OMIM:239800 semapv:UnspecifiedMatching +GARD:905 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch Orphanet:2057 semapv:UnspecifiedMatching +GARD:905 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:narrowMatch OMIM:210745 semapv:UnspecifiedMatching +GARD:9118 Primary Fanconi renotubular syndrome skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching +GARD:9118 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:134600 semapv:UnspecifiedMatching +GARD:9118 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:613388 semapv:UnspecifiedMatching +GARD:9118 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:615605 semapv:UnspecifiedMatching +GARD:9118 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:618913 semapv:UnspecifiedMatching +GARD:9119 Pulmonary agenesis skos:exactMatch Orphanet:984 semapv:UnspecifiedMatching +GARD:912 Blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch Orphanet:1259 semapv:UnspecifiedMatching +GARD:912 Blepharoptosis-myopia-ectopia lentis syndrome skos:narrowMatch OMIM:110150 semapv:UnspecifiedMatching +GARD:9124 Treacher-Collins syndrome skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching +GARD:9124 Treacher-Collins syndrome skos:narrowMatch OMIM:154500 semapv:UnspecifiedMatching +GARD:9124 Treacher-Collins syndrome skos:narrowMatch OMIM:248390 semapv:UnspecifiedMatching +GARD:9124 Treacher-Collins syndrome skos:narrowMatch OMIM:613717 semapv:UnspecifiedMatching +GARD:9124 Treacher-Collins syndrome skos:narrowMatch OMIM:618939 semapv:UnspecifiedMatching +GARD:9125 Treacher collins syndrome 3 skos:broadMatch Orphanet:861 semapv:UnspecifiedMatching +GARD:9125 Treacher collins syndrome 3 skos:exactMatch OMIM:248390 semapv:UnspecifiedMatching +GARD:9126 Agnathia-holoprosencephaly-situs inversus syndrome skos:exactMatch Orphanet:990 semapv:UnspecifiedMatching +GARD:9126 Agnathia-holoprosencephaly-situs inversus syndrome skos:narrowMatch OMIM:202650 semapv:UnspecifiedMatching +GARD:9128 Idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 semapv:UnspecifiedMatching +GARD:9138 Congenital muscular dystrophy skos:exactMatch Orphanet:97242 semapv:UnspecifiedMatching +GARD:914 Blomstrand lethal chondrodysplasia skos:exactMatch Orphanet:50945 semapv:UnspecifiedMatching +GARD:914 Blomstrand lethal chondrodysplasia skos:narrowMatch OMIM:215045 semapv:UnspecifiedMatching +GARD:9142 Eosinophilic gastroenteritis skos:exactMatch Orphanet:2070 semapv:UnspecifiedMatching +GARD:9145 Renal pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171871 semapv:UnspecifiedMatching +GARD:9145 Renal pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:177735 semapv:UnspecifiedMatching +GARD:9146 Cardiofaciocutaneous syndrome skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching +GARD:9146 Cardiofaciocutaneous syndrome skos:narrowMatch OMIM:115150 semapv:UnspecifiedMatching +GARD:9146 Cardiofaciocutaneous syndrome skos:narrowMatch OMIM:615278 semapv:UnspecifiedMatching +GARD:9146 Cardiofaciocutaneous syndrome skos:narrowMatch OMIM:615279 semapv:UnspecifiedMatching +GARD:9146 Cardiofaciocutaneous syndrome skos:narrowMatch OMIM:615280 semapv:UnspecifiedMatching +GARD:9149 Retinitis pigmentosa 1 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +GARD:9149 Retinitis pigmentosa 1 skos:exactMatch OMIM:180100 semapv:UnspecifiedMatching +GARD:915 Bloom syndrome skos:exactMatch Orphanet:125 semapv:UnspecifiedMatching +GARD:915 Bloom syndrome skos:narrowMatch OMIM:210900 semapv:UnspecifiedMatching +GARD:9151 3-methylcrotonyl-coa carboxylase 2 deficiency skos:broadMatch Orphanet:6 semapv:UnspecifiedMatching +GARD:9151 3-methylcrotonyl-coa carboxylase 2 deficiency skos:exactMatch OMIM:210210 semapv:UnspecifiedMatching +GARD:9152 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch Orphanet:90791 semapv:UnspecifiedMatching +GARD:9152 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:narrowMatch OMIM:201810 semapv:UnspecifiedMatching +GARD:9156 Syndromic X-linked intellectual disability 7 skos:exactMatch Orphanet:85274 semapv:UnspecifiedMatching +GARD:9156 Syndromic X-linked intellectual disability 7 skos:narrowMatch OMIM:300218 semapv:UnspecifiedMatching +GARD:9157 X-linked intellectual disability, Abidi type skos:exactMatch Orphanet:85273 semapv:UnspecifiedMatching +GARD:9157 X-linked intellectual disability, Abidi type skos:narrowMatch OMIM:300262 semapv:UnspecifiedMatching +GARD:9158 Brody myopathy skos:exactMatch Orphanet:53347 semapv:UnspecifiedMatching +GARD:9158 Brody myopathy skos:narrowMatch OMIM:601003 semapv:UnspecifiedMatching +GARD:9159 46,xy sex reversal 2 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +GARD:9159 46,xy sex reversal 2 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +GARD:9159 46,xy sex reversal 2 skos:exactMatch OMIM:300018 semapv:UnspecifiedMatching +GARD:916 Blount disease skos:exactMatch Orphanet:2768 semapv:UnspecifiedMatching +GARD:916 Blount disease skos:narrowMatch OMIM:188700 semapv:UnspecifiedMatching +GARD:916 Blount disease skos:narrowMatch OMIM:259200 semapv:UnspecifiedMatching +GARD:9161 Alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch Orphanet:79280 semapv:UnspecifiedMatching +GARD:9161 Alpha-N-acetylgalactosaminidase deficiency type 2 skos:narrowMatch OMIM:609242 semapv:UnspecifiedMatching +GARD:9163 Roifman syndrome skos:exactMatch Orphanet:353298 semapv:UnspecifiedMatching +GARD:9163 Roifman syndrome skos:narrowMatch OMIM:616651 semapv:UnspecifiedMatching +GARD:9164 Rippling muscle disease skos:exactMatch Orphanet:97238 semapv:UnspecifiedMatching +GARD:9164 Rippling muscle disease skos:narrowMatch OMIM:600332 semapv:UnspecifiedMatching +GARD:9164 Rippling muscle disease skos:narrowMatch OMIM:606072 semapv:UnspecifiedMatching +GARD:9165 Rippling muscle disease 1 skos:broadMatch Orphanet:97238 semapv:UnspecifiedMatching +GARD:9165 Rippling muscle disease 1 skos:exactMatch OMIM:600332 semapv:UnspecifiedMatching +GARD:9166 Deafness, autosomal dominant 24 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:9166 Deafness, autosomal dominant 24 skos:exactMatch OMIM:606282 semapv:UnspecifiedMatching +GARD:9167 Deafness, autosomal dominant 22 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:9167 Deafness, autosomal dominant 22 skos:exactMatch OMIM:606346 semapv:UnspecifiedMatching +GARD:9168 Familial expansile osteolysis skos:exactMatch Orphanet:85195 semapv:UnspecifiedMatching +GARD:9168 Familial expansile osteolysis skos:narrowMatch OMIM:174810 semapv:UnspecifiedMatching +GARD:9169 ADan amyloidosis skos:exactMatch Orphanet:97346 semapv:UnspecifiedMatching +GARD:9169 ADan amyloidosis skos:narrowMatch OMIM:117300 semapv:UnspecifiedMatching +GARD:917 Blue cone monochromatism skos:exactMatch Orphanet:16 semapv:UnspecifiedMatching +GARD:917 Blue cone monochromatism skos:narrowMatch OMIM:303700 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:278150 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:604379 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:605389 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:607903 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:614237 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:614238 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:615059 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:615885 semapv:UnspecifiedMatching +GARD:9170 Hypotrichosis simplex skos:narrowMatch OMIM:618275 semapv:UnspecifiedMatching +GARD:9172 Palmoplantar keratoderma i, striate, focal, or diffuse skos:broadMatch Orphanet:50942 semapv:UnspecifiedMatching +GARD:9172 Palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch OMIM:148700 semapv:UnspecifiedMatching +GARD:9173 Keratosis palmoplantaris striata iii skos:broadMatch Orphanet:50942 semapv:UnspecifiedMatching +GARD:9173 Keratosis palmoplantaris striata iii skos:exactMatch OMIM:607654 semapv:UnspecifiedMatching +GARD:9174 Kufor-Rakeb syndrome skos:exactMatch Orphanet:306674 semapv:UnspecifiedMatching +GARD:9174 Kufor-Rakeb syndrome skos:narrowMatch OMIM:606693 semapv:UnspecifiedMatching +GARD:9175 Parkinsonian-pyramidal syndrome skos:exactMatch Orphanet:171695 semapv:UnspecifiedMatching +GARD:9175 Parkinsonian-pyramidal syndrome skos:narrowMatch OMIM:168100 semapv:UnspecifiedMatching +GARD:9175 Parkinsonian-pyramidal syndrome skos:narrowMatch OMIM:168601 semapv:UnspecifiedMatching +GARD:9175 Parkinsonian-pyramidal syndrome skos:narrowMatch OMIM:260300 semapv:UnspecifiedMatching +GARD:9176 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch Orphanet:69126 semapv:UnspecifiedMatching +GARD:9176 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:narrowMatch OMIM:604416 semapv:UnspecifiedMatching +GARD:9177 Lethal congenital contracture syndrome type 2 skos:exactMatch Orphanet:137776 semapv:UnspecifiedMatching +GARD:9177 Lethal congenital contracture syndrome type 2 skos:narrowMatch OMIM:607598 semapv:UnspecifiedMatching +GARD:9178 MEHMO syndrome skos:exactMatch Orphanet:85282 semapv:UnspecifiedMatching +GARD:9178 MEHMO syndrome skos:narrowMatch OMIM:300148 semapv:UnspecifiedMatching +GARD:9179 North Carolina macular dystrophy skos:exactMatch Orphanet:75327 semapv:UnspecifiedMatching +GARD:9179 North Carolina macular dystrophy skos:narrowMatch OMIM:136550 semapv:UnspecifiedMatching +GARD:918 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch Orphanet:1292 semapv:UnspecifiedMatching +GARD:918 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:narrowMatch OMIM:113477 semapv:UnspecifiedMatching +GARD:9180 Primary membranous glomerulonephritis skos:exactMatch Orphanet:97560 semapv:UnspecifiedMatching +GARD:9180 Primary membranous glomerulonephritis skos:narrowMatch OMIM:614692 semapv:UnspecifiedMatching +GARD:9181 Familial abdominal aortic aneurysm skos:exactMatch Orphanet:86 semapv:UnspecifiedMatching +GARD:9181 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:100070 semapv:UnspecifiedMatching +GARD:9181 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:609782 semapv:UnspecifiedMatching +GARD:9181 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:611891 semapv:UnspecifiedMatching +GARD:9181 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:614375 semapv:UnspecifiedMatching +GARD:9182 Okihiro syndrome skos:exactMatch Orphanet:93293 semapv:UnspecifiedMatching +GARD:9182 Okihiro syndrome skos:narrowMatch OMIM:607323 semapv:UnspecifiedMatching +GARD:9184 Progressive pseudorheumatoid arthropathy of childhood skos:exactMatch Orphanet:1159 semapv:UnspecifiedMatching +GARD:9184 Progressive pseudorheumatoid arthropathy of childhood skos:narrowMatch OMIM:208230 semapv:UnspecifiedMatching +GARD:9185 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:exactMatch Orphanet:99898 semapv:UnspecifiedMatching +GARD:9185 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:narrowMatch OMIM:209950 semapv:UnspecifiedMatching +GARD:9189 Charcot-Marie-Tooth disease type 1D skos:exactMatch Orphanet:101084 semapv:UnspecifiedMatching +GARD:9189 Charcot-Marie-Tooth disease type 1D skos:narrowMatch OMIM:607678 semapv:UnspecifiedMatching +GARD:9190 Charcot-Marie-Tooth disease type 1E skos:exactMatch Orphanet:90658 semapv:UnspecifiedMatching +GARD:9190 Charcot-Marie-Tooth disease type 1E skos:narrowMatch OMIM:118300 semapv:UnspecifiedMatching +GARD:9191 Charcot-Marie-Tooth disease type 1F skos:exactMatch Orphanet:101085 semapv:UnspecifiedMatching +GARD:9191 Charcot-Marie-Tooth disease type 1F skos:narrowMatch OMIM:607734 semapv:UnspecifiedMatching +GARD:9192 Autosomal dominant Charcot-Marie-Tooth disease type 2B skos:exactMatch Orphanet:99936 semapv:UnspecifiedMatching +GARD:9192 Autosomal dominant Charcot-Marie-Tooth disease type 2B skos:narrowMatch OMIM:600882 semapv:UnspecifiedMatching +GARD:9193 Autosomal dominant Charcot-Marie-Tooth disease type 2E skos:exactMatch Orphanet:99939 semapv:UnspecifiedMatching +GARD:9193 Autosomal dominant Charcot-Marie-Tooth disease type 2E skos:narrowMatch OMIM:607684 semapv:UnspecifiedMatching +GARD:9194 Autosomal dominant Charcot-Marie-Tooth disease type 2F skos:exactMatch Orphanet:99940 semapv:UnspecifiedMatching +GARD:9194 Autosomal dominant Charcot-Marie-Tooth disease type 2F skos:narrowMatch OMIM:606595 semapv:UnspecifiedMatching +GARD:9195 Autosomal dominant Charcot-Marie-Tooth disease type 2G skos:exactMatch Orphanet:99941 semapv:UnspecifiedMatching +GARD:9196 Charcot-Marie-Tooth disease type 2H skos:exactMatch Orphanet:101102 semapv:UnspecifiedMatching +GARD:9196 Charcot-Marie-Tooth disease type 2H skos:narrowMatch OMIM:607731 semapv:UnspecifiedMatching +GARD:9197 Autosomal dominant Charcot-Marie-Tooth disease type 2I skos:exactMatch Orphanet:99942 semapv:UnspecifiedMatching +GARD:9197 Autosomal dominant Charcot-Marie-Tooth disease type 2I skos:narrowMatch OMIM:607677 semapv:UnspecifiedMatching +GARD:9198 Autosomal dominant Charcot-Marie-Tooth disease type 2J skos:exactMatch Orphanet:99943 semapv:UnspecifiedMatching +GARD:9198 Autosomal dominant Charcot-Marie-Tooth disease type 2J skos:narrowMatch OMIM:607736 semapv:UnspecifiedMatching +GARD:9199 Autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch Orphanet:99944 semapv:UnspecifiedMatching +GARD:9199 Autosomal dominant Charcot-Marie-Tooth disease type 2K skos:narrowMatch OMIM:607831 semapv:UnspecifiedMatching +GARD:92 Mal de Meleda skos:exactMatch Orphanet:87503 semapv:UnspecifiedMatching +GARD:92 Mal de Meleda skos:narrowMatch OMIM:248300 semapv:UnspecifiedMatching +GARD:9200 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch Orphanet:99956 semapv:UnspecifiedMatching +GARD:9200 Charcot-Marie-Tooth disease type 4B2 skos:narrowMatch OMIM:604563 semapv:UnspecifiedMatching +GARD:9201 Charcot-Marie-Tooth disease type 4C skos:exactMatch Orphanet:99949 semapv:UnspecifiedMatching +GARD:9201 Charcot-Marie-Tooth disease type 4C skos:narrowMatch OMIM:601596 semapv:UnspecifiedMatching +GARD:9203 Charcot-Marie-Tooth disease type 4E skos:exactMatch Orphanet:99951 semapv:UnspecifiedMatching +GARD:9203 Charcot-Marie-Tooth disease type 4E skos:narrowMatch OMIM:605253 semapv:UnspecifiedMatching +GARD:9204 Dejerine-Sottas syndrome skos:exactMatch Orphanet:64748 semapv:UnspecifiedMatching +GARD:9204 Dejerine-Sottas syndrome skos:narrowMatch OMIM:145900 semapv:UnspecifiedMatching +GARD:9204 Dejerine-Sottas syndrome skos:narrowMatch OMIM:618184 semapv:UnspecifiedMatching +GARD:9206 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F skos:exactMatch Orphanet:352670 semapv:UnspecifiedMatching +GARD:9206 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F skos:narrowMatch OMIM:615185 semapv:UnspecifiedMatching +GARD:9207 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D skos:exactMatch Orphanet:100046 semapv:UnspecifiedMatching +GARD:9207 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D skos:narrowMatch OMIM:607791 semapv:UnspecifiedMatching +GARD:9208 Hereditary motor and sensory neuropathy type 5 skos:exactMatch Orphanet:64751 semapv:UnspecifiedMatching +GARD:9208 Hereditary motor and sensory neuropathy type 5 skos:narrowMatch OMIM:600361 semapv:UnspecifiedMatching +GARD:9210 Thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 semapv:UnspecifiedMatching +GARD:9210 Thiamine-responsive megaloblastic anemia syndrome skos:narrowMatch OMIM:249270 semapv:UnspecifiedMatching +GARD:9212 Phocomelia, Schinzel type skos:exactMatch Orphanet:2879 semapv:UnspecifiedMatching +GARD:9212 Phocomelia, Schinzel type skos:narrowMatch OMIM:276820 semapv:UnspecifiedMatching +GARD:9217 Lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch Orphanet:86914 semapv:UnspecifiedMatching +GARD:9217 Lymphedema-cerebral arteriovenous anomaly syndrome skos:narrowMatch OMIM:152900 semapv:UnspecifiedMatching +GARD:922 Bone dysplasia, lethal Holmgren type skos:exactMatch Orphanet:1842 semapv:UnspecifiedMatching +GARD:922 Bone dysplasia, lethal Holmgren type skos:narrowMatch OMIM:211120 semapv:UnspecifiedMatching +GARD:9225 Tarsal-carpal coalition syndrome skos:exactMatch Orphanet:1412 semapv:UnspecifiedMatching +GARD:9225 Tarsal-carpal coalition syndrome skos:narrowMatch OMIM:186400 semapv:UnspecifiedMatching +GARD:9225 Tarsal-carpal coalition syndrome skos:narrowMatch OMIM:186570 semapv:UnspecifiedMatching +GARD:9228 Renal agenesis skos:exactMatch Orphanet:411709 semapv:UnspecifiedMatching +GARD:9228 Renal agenesis skos:narrowMatch OMIM:191830 semapv:UnspecifiedMatching +GARD:9228 Renal agenesis skos:narrowMatch OMIM:615721 semapv:UnspecifiedMatching +GARD:9232 Arnold-Chiari malformation type II skos:exactMatch Orphanet:1136 semapv:UnspecifiedMatching +GARD:9232 Arnold-Chiari malformation type II skos:narrowMatch OMIM:207950 semapv:UnspecifiedMatching +GARD:9233 Arnold-Chiari malformation type I skos:exactMatch Orphanet:268882 semapv:UnspecifiedMatching +GARD:9233 Arnold-Chiari malformation type I skos:narrowMatch OMIM:118420 semapv:UnspecifiedMatching +GARD:9237 Severe acute respiratory syndrome skos:exactMatch Orphanet:140896 semapv:UnspecifiedMatching +GARD:9239 Parkinson-dementia complex of Guam skos:exactMatch Orphanet:90020 semapv:UnspecifiedMatching +GARD:9239 Parkinson-dementia complex of Guam skos:narrowMatch OMIM:105500 semapv:UnspecifiedMatching +GARD:9242 Familial advanced sleep-phase syndrome skos:exactMatch Orphanet:164736 semapv:UnspecifiedMatching +GARD:9242 Familial advanced sleep-phase syndrome skos:narrowMatch OMIM:604348 semapv:UnspecifiedMatching +GARD:9242 Familial advanced sleep-phase syndrome skos:narrowMatch OMIM:615224 semapv:UnspecifiedMatching +GARD:9242 Familial advanced sleep-phase syndrome skos:narrowMatch OMIM:616882 semapv:UnspecifiedMatching +GARD:9247 Primary effusion lymphoma skos:exactMatch Orphanet:48686 semapv:UnspecifiedMatching +GARD:9252 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch Orphanet:91500 semapv:UnspecifiedMatching +GARD:9252 Tubulointerstitial nephritis and uveitis syndrome skos:narrowMatch OMIM:607665 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:300672 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:308350 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:609304 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:612164 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:613402 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:613721 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:615473 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:616341 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617276 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617350 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617389 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617391 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617493 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617599 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:618548 semapv:UnspecifiedMatching +GARD:9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:619340 semapv:UnspecifiedMatching +GARD:9257 SUNCT syndrome skos:exactMatch Orphanet:57145 semapv:UnspecifiedMatching +GARD:9258 Perineural cyst skos:exactMatch Orphanet:65250 semapv:UnspecifiedMatching +GARD:9265 Classic glucose transporter type 1 deficiency syndrome skos:exactMatch Orphanet:71277 semapv:UnspecifiedMatching +GARD:9265 Classic glucose transporter type 1 deficiency syndrome skos:narrowMatch OMIM:606777 semapv:UnspecifiedMatching +GARD:9266 Cutaneous neuroendocrine carcinoma skos:exactMatch Orphanet:79140 semapv:UnspecifiedMatching +GARD:9268 Glomerulopathy with fibronectin deposits 1 skos:broadMatch Orphanet:84090 semapv:UnspecifiedMatching +GARD:9268 Glomerulopathy with fibronectin deposits 1 skos:exactMatch OMIM:137950 semapv:UnspecifiedMatching +GARD:9275 Thiel-Behnke corneal dystrophy skos:exactMatch Orphanet:98960 semapv:UnspecifiedMatching +GARD:9275 Thiel-Behnke corneal dystrophy skos:narrowMatch OMIM:602082 semapv:UnspecifiedMatching +GARD:9276 Reis-Bücklers corneal dystrophy skos:exactMatch Orphanet:98961 semapv:UnspecifiedMatching +GARD:9276 Reis-Bücklers corneal dystrophy skos:narrowMatch OMIM:608470 semapv:UnspecifiedMatching +GARD:9277 Schnyder corneal dystrophy skos:exactMatch Orphanet:98967 semapv:UnspecifiedMatching +GARD:9277 Schnyder corneal dystrophy skos:narrowMatch OMIM:121800 semapv:UnspecifiedMatching +GARD:9278 Granular corneal dystrophy type II skos:exactMatch Orphanet:98963 semapv:UnspecifiedMatching +GARD:9278 Granular corneal dystrophy type II skos:narrowMatch OMIM:607541 semapv:UnspecifiedMatching +GARD:9279 Formiminoglutamic aciduria skos:exactMatch Orphanet:51208 semapv:UnspecifiedMatching +GARD:9279 Formiminoglutamic aciduria skos:narrowMatch OMIM:229100 semapv:UnspecifiedMatching +GARD:9280 Cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch Orphanet:1415 semapv:UnspecifiedMatching +GARD:9281 Familial atypical multiple mole melanoma syndrome skos:exactMatch Orphanet:404560 semapv:UnspecifiedMatching +GARD:9281 Familial atypical multiple mole melanoma syndrome skos:narrowMatch OMIM:155600 semapv:UnspecifiedMatching +GARD:9281 Familial atypical multiple mole melanoma syndrome skos:narrowMatch OMIM:606719 semapv:UnspecifiedMatching +GARD:9282 White platelet syndrome skos:exactMatch Orphanet:370131 semapv:UnspecifiedMatching +GARD:9283 Ataxia-oculomotor apraxia type 1 skos:exactMatch Orphanet:1168 semapv:UnspecifiedMatching +GARD:9283 Ataxia-oculomotor apraxia type 1 skos:narrowMatch OMIM:208920 semapv:UnspecifiedMatching +GARD:9285 Amoebic keratitis skos:exactMatch Orphanet:67043 semapv:UnspecifiedMatching +GARD:9287 Atelosteogenesis type I skos:exactMatch Orphanet:1190 semapv:UnspecifiedMatching +GARD:9287 Atelosteogenesis type I skos:narrowMatch OMIM:108720 semapv:UnspecifiedMatching +GARD:9288 X-linked intellectual disability, Schimke type skos:exactMatch Orphanet:85285 semapv:UnspecifiedMatching +GARD:9288 X-linked intellectual disability, Schimke type skos:narrowMatch OMIM:312840 semapv:UnspecifiedMatching +GARD:9292 Microphthalmia-brain atrophy syndrome skos:exactMatch Orphanet:77299 semapv:UnspecifiedMatching +GARD:9292 Microphthalmia-brain atrophy syndrome skos:narrowMatch OMIM:611222 semapv:UnspecifiedMatching +GARD:9294 Timothy syndrome skos:exactMatch Orphanet:65283 semapv:UnspecifiedMatching +GARD:9294 Timothy syndrome skos:narrowMatch OMIM:601005 semapv:UnspecifiedMatching +GARD:9294 Timothy syndrome skos:narrowMatch OMIM:618447 semapv:UnspecifiedMatching +GARD:9295 Thanatophoric dysplasia type 1 skos:exactMatch Orphanet:1860 semapv:UnspecifiedMatching +GARD:9295 Thanatophoric dysplasia type 1 skos:narrowMatch OMIM:187600 semapv:UnspecifiedMatching +GARD:9296 Autosomal recessive spastic paraplegia type 24 skos:exactMatch Orphanet:101004 semapv:UnspecifiedMatching +GARD:9296 Autosomal recessive spastic paraplegia type 24 skos:narrowMatch OMIM:607584 semapv:UnspecifiedMatching +GARD:9297 WHIM syndrome skos:exactMatch Orphanet:51636 semapv:UnspecifiedMatching +GARD:9297 WHIM syndrome skos:narrowMatch OMIM:193670 semapv:UnspecifiedMatching +GARD:9298 Pyridoxine-dependent epilepsy skos:exactMatch Orphanet:3006 semapv:UnspecifiedMatching +GARD:9298 Pyridoxine-dependent epilepsy skos:narrowMatch OMIM:266100 semapv:UnspecifiedMatching +GARD:9298 Pyridoxine-dependent epilepsy skos:narrowMatch OMIM:617290 semapv:UnspecifiedMatching +GARD:9299 Acute ackee fruit intoxication skos:exactMatch Orphanet:73423 semapv:UnspecifiedMatching +GARD:93 Monilethrix skos:exactMatch Orphanet:573 semapv:UnspecifiedMatching +GARD:93 Monilethrix skos:narrowMatch OMIM:158000 semapv:UnspecifiedMatching +GARD:9304 Cholangiocarcinoma skos:exactMatch Orphanet:70567 semapv:UnspecifiedMatching +GARD:9304 Cholangiocarcinoma skos:narrowMatch OMIM:615619 semapv:UnspecifiedMatching +GARD:9316 Neuroendocrine neoplasm skos:exactMatch Orphanet:877 semapv:UnspecifiedMatching +GARD:9318 Primary central nervous system lymphoma skos:exactMatch Orphanet:46135 semapv:UnspecifiedMatching +GARD:9319 Myeloproliferative neoplasm skos:exactMatch Orphanet:98274 semapv:UnspecifiedMatching +GARD:932 Böök syndrome skos:exactMatch Orphanet:1262 semapv:UnspecifiedMatching +GARD:932 Böök syndrome skos:narrowMatch OMIM:112300 semapv:UnspecifiedMatching +GARD:9325 Extragonadal germ cell tumor skos:exactMatch Orphanet:363579 semapv:UnspecifiedMatching +GARD:933 Boomerang dysplasia skos:exactMatch Orphanet:1263 semapv:UnspecifiedMatching +GARD:933 Boomerang dysplasia skos:narrowMatch OMIM:112310 semapv:UnspecifiedMatching +GARD:9330 Malignant germ cell tumor of ovary skos:exactMatch Orphanet:35807 semapv:UnspecifiedMatching +GARD:9330 Malignant germ cell tumor of ovary skos:narrowMatch OMIM:603737 semapv:UnspecifiedMatching +GARD:9331 Pediatric hepatocellular carcinoma skos:exactMatch Orphanet:33402 semapv:UnspecifiedMatching +GARD:9331 Pediatric hepatocellular carcinoma skos:narrowMatch OMIM:114550 semapv:UnspecifiedMatching +GARD:9344 Small cell lung cancer skos:exactMatch Orphanet:70573 semapv:UnspecifiedMatching +GARD:9344 Small cell lung cancer skos:narrowMatch OMIM:182280 semapv:UnspecifiedMatching +GARD:9348 Vaginal carcinoma skos:exactMatch Orphanet:180247 semapv:UnspecifiedMatching +GARD:9349 Vulvar carcinoma skos:exactMatch Orphanet:494418 semapv:UnspecifiedMatching +GARD:9351 Myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98275 semapv:UnspecifiedMatching +GARD:936 Borjeson-Forssman-Lehmann syndrome skos:exactMatch Orphanet:127 semapv:UnspecifiedMatching +GARD:936 Borjeson-Forssman-Lehmann syndrome skos:narrowMatch OMIM:301900 semapv:UnspecifiedMatching +GARD:9362 Malignant epithelial tumor of ovary skos:exactMatch Orphanet:398934 semapv:UnspecifiedMatching +GARD:9363 Borderline epithelial tumor of ovary skos:exactMatch Orphanet:206473 semapv:UnspecifiedMatching +GARD:9364 Rare tumor of pancreas skos:exactMatch Orphanet:180824 semapv:UnspecifiedMatching +GARD:9366 Malignant tumor of penis skos:exactMatch Orphanet:398043 semapv:UnspecifiedMatching +GARD:9369 Pineoblastoma skos:exactMatch Orphanet:251909 semapv:UnspecifiedMatching +GARD:9371 Pituitary carcinoma skos:exactMatch Orphanet:300385 semapv:UnspecifiedMatching +GARD:9373 Plasma cell leukemia skos:exactMatch Orphanet:454714 semapv:UnspecifiedMatching +GARD:9376 Upper tract urothelial carcinoma skos:exactMatch Orphanet:598216 semapv:UnspecifiedMatching +GARD:938 Tricho-retino-dento-digital syndrome skos:exactMatch Orphanet:1264 semapv:UnspecifiedMatching +GARD:938 Tricho-retino-dento-digital syndrome skos:narrowMatch OMIM:191482 semapv:UnspecifiedMatching +GARD:94 Mucolipidosis type IV skos:exactMatch Orphanet:578 semapv:UnspecifiedMatching +GARD:94 Mucolipidosis type IV skos:narrowMatch OMIM:252650 semapv:UnspecifiedMatching +GARD:9400 Tako-Tsubo cardiomyopathy skos:exactMatch Orphanet:66529 semapv:UnspecifiedMatching +GARD:9404 Phyllodes tumor of the prostate skos:exactMatch Orphanet:498228 semapv:UnspecifiedMatching +GARD:9412 X-linked cerebral adrenoleukodystrophy skos:exactMatch Orphanet:139396 semapv:UnspecifiedMatching +GARD:9412 X-linked cerebral adrenoleukodystrophy skos:narrowMatch OMIM:300100 semapv:UnspecifiedMatching +GARD:9418 Cochleosaccular degeneration-cataract syndrome skos:exactMatch Orphanet:3233 semapv:UnspecifiedMatching +GARD:9418 Cochleosaccular degeneration-cataract syndrome skos:narrowMatch OMIM:120040 semapv:UnspecifiedMatching +GARD:942 Diphyllobothriasis skos:exactMatch Orphanet:128 semapv:UnspecifiedMatching +GARD:9420 Pierson syndrome skos:exactMatch Orphanet:2670 semapv:UnspecifiedMatching +GARD:9420 Pierson syndrome skos:narrowMatch OMIM:609049 semapv:UnspecifiedMatching +GARD:9428 Thyroid carcinoma, hurthle cell skos:broadMatch Orphanet:146 semapv:UnspecifiedMatching +GARD:9428 Thyroid carcinoma, hurthle cell skos:exactMatch OMIM:607464 semapv:UnspecifiedMatching +GARD:9429 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch Orphanet:309796 semapv:UnspecifiedMatching +GARD:9429 Rhizomelic chondrodysplasia punctata type 2 skos:narrowMatch OMIM:222765 semapv:UnspecifiedMatching +GARD:943 Botulism skos:exactMatch Orphanet:1267 semapv:UnspecifiedMatching +GARD:9430 Congenital thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93583 semapv:UnspecifiedMatching +GARD:9430 Congenital thrombotic thrombocytopenic purpura skos:narrowMatch OMIM:274150 semapv:UnspecifiedMatching +GARD:9433 Organic aciduria skos:exactMatch Orphanet:289899 semapv:UnspecifiedMatching +GARD:9435 Hermansky-pudlak syndrome 2 skos:broadMatch Orphanet:183678 semapv:UnspecifiedMatching +GARD:9435 Hermansky-pudlak syndrome 2 skos:exactMatch OMIM:608233 semapv:UnspecifiedMatching +GARD:944 Ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch Orphanet:1180 semapv:UnspecifiedMatching +GARD:944 Ataxia-hypogonadism-choroidal dystrophy syndrome skos:narrowMatch OMIM:215470 semapv:UnspecifiedMatching +GARD:9441 Temple-Baraitser syndrome skos:exactMatch Orphanet:420561 semapv:UnspecifiedMatching +GARD:9441 Temple-Baraitser syndrome skos:narrowMatch OMIM:611816 semapv:UnspecifiedMatching +GARD:9442 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:exactMatch Orphanet:366 semapv:UnspecifiedMatching +GARD:9442 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:narrowMatch OMIM:232400 semapv:UnspecifiedMatching +GARD:9443 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch Orphanet:85165 semapv:UnspecifiedMatching +GARD:9443 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:narrowMatch OMIM:616482 semapv:UnspecifiedMatching +GARD:9444 Marburg hemorrhagic fever skos:exactMatch Orphanet:99826 semapv:UnspecifiedMatching +GARD:9447 Infantile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79263 semapv:UnspecifiedMatching +GARD:9447 Infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +GARD:9448 Camptodactyly of fingers skos:exactMatch Orphanet:295016 semapv:UnspecifiedMatching +GARD:9448 Camptodactyly of fingers skos:narrowMatch OMIM:114200 semapv:UnspecifiedMatching +GARD:9449 Waterhouse-Friderichsen syndrome skos:exactMatch Orphanet:100067 semapv:UnspecifiedMatching +GARD:9450 Familial juvenile hypertrophy of the breast skos:exactMatch Orphanet:180176 semapv:UnspecifiedMatching +GARD:9450 Familial juvenile hypertrophy of the breast skos:narrowMatch OMIM:113670 semapv:UnspecifiedMatching +GARD:9452 Pilomatrixoma skos:exactMatch Orphanet:91414 semapv:UnspecifiedMatching +GARD:9452 Pilomatrixoma skos:narrowMatch OMIM:132600 semapv:UnspecifiedMatching +GARD:9453 Andersen-Tawil syndrome skos:exactMatch Orphanet:37553 semapv:UnspecifiedMatching +GARD:9453 Andersen-Tawil syndrome skos:narrowMatch OMIM:170390 semapv:UnspecifiedMatching +GARD:9455 Joubert syndrome with oculorenal defect skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching +GARD:9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:243910 semapv:UnspecifiedMatching +GARD:9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:608091 semapv:UnspecifiedMatching +GARD:9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:610188 semapv:UnspecifiedMatching +GARD:9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:612285 semapv:UnspecifiedMatching +GARD:9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:614424 semapv:UnspecifiedMatching +GARD:9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:614465 semapv:UnspecifiedMatching +GARD:9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:614844 semapv:UnspecifiedMatching +GARD:9456 X-linked sideroblastic anemia skos:exactMatch Orphanet:75563 semapv:UnspecifiedMatching +GARD:9456 X-linked sideroblastic anemia skos:narrowMatch OMIM:300751 semapv:UnspecifiedMatching +GARD:9457 Isolated polycystic liver disease skos:exactMatch Orphanet:2924 semapv:UnspecifiedMatching +GARD:9457 Isolated polycystic liver disease skos:narrowMatch OMIM:174050 semapv:UnspecifiedMatching +GARD:9457 Isolated polycystic liver disease skos:narrowMatch OMIM:617004 semapv:UnspecifiedMatching +GARD:9458 Loeys-dietz syndrome 1 skos:broadMatch Orphanet:60030 semapv:UnspecifiedMatching +GARD:9458 Loeys-dietz syndrome 1 skos:exactMatch OMIM:609192 semapv:UnspecifiedMatching +GARD:9463 Pseudodiastrophic dysplasia skos:exactMatch Orphanet:85174 semapv:UnspecifiedMatching +GARD:9463 Pseudodiastrophic dysplasia skos:narrowMatch OMIM:264180 semapv:UnspecifiedMatching +GARD:9465 Alzheimer disease, familial, 1 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +GARD:9465 Alzheimer disease, familial, 1 skos:exactMatch OMIM:104300 semapv:UnspecifiedMatching +GARD:9472 Anaplastic oligodendroglioma skos:exactMatch Orphanet:251630 semapv:UnspecifiedMatching +GARD:9472 Anaplastic oligodendroglioma skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +GARD:9472 Anaplastic oligodendroglioma skos:narrowMatch OMIM:616568 semapv:UnspecifiedMatching +GARD:9474 Melorheostosis skos:exactMatch Orphanet:2485 semapv:UnspecifiedMatching +GARD:9474 Melorheostosis skos:narrowMatch OMIM:155950 semapv:UnspecifiedMatching +GARD:9479 Vitamin B12-responsive methylmalonic acidemia type cblB skos:exactMatch Orphanet:79311 semapv:UnspecifiedMatching +GARD:9479 Vitamin B12-responsive methylmalonic acidemia type cblB skos:narrowMatch OMIM:251110 semapv:UnspecifiedMatching +GARD:9481 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch Orphanet:88924 semapv:UnspecifiedMatching +GARD:9481 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:narrowMatch OMIM:600273 semapv:UnspecifiedMatching +GARD:9484 Superficial siderosis skos:exactMatch Orphanet:247245 semapv:UnspecifiedMatching +GARD:9485 Glaucoma 1, open angle, a skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +GARD:9485 Glaucoma 1, open angle, a skos:exactMatch OMIM:137750 semapv:UnspecifiedMatching +GARD:9486 Isolated congenital anosmia skos:exactMatch Orphanet:88620 semapv:UnspecifiedMatching +GARD:9486 Isolated congenital anosmia skos:narrowMatch OMIM:107200 semapv:UnspecifiedMatching +GARD:9487 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch Orphanet:2674 semapv:UnspecifiedMatching +GARD:9487 Cyprus facial-neuromusculoskeletal syndrome skos:narrowMatch OMIM:123853 semapv:UnspecifiedMatching +GARD:9489 Isolated congenital breast hypoplasia/aplasia skos:exactMatch Orphanet:180188 semapv:UnspecifiedMatching +GARD:9489 Isolated congenital breast hypoplasia/aplasia skos:narrowMatch OMIM:113700 semapv:UnspecifiedMatching +GARD:9489 Isolated congenital breast hypoplasia/aplasia skos:narrowMatch OMIM:616001 semapv:UnspecifiedMatching +GARD:9491 Leber congenital amaurosis 9 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:9491 Leber congenital amaurosis 9 skos:exactMatch OMIM:608553 semapv:UnspecifiedMatching +GARD:9492 Cataract 35 skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +GARD:9492 Cataract 35 skos:exactMatch OMIM:609376 semapv:UnspecifiedMatching +GARD:9493 GNE myopathy skos:exactMatch Orphanet:602 semapv:UnspecifiedMatching +GARD:9493 GNE myopathy skos:narrowMatch OMIM:605820 semapv:UnspecifiedMatching +GARD:9493 GNE myopathy skos:narrowMatch OMIM:617158 semapv:UnspecifiedMatching +GARD:9494 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch Orphanet:79091 semapv:UnspecifiedMatching +GARD:9494 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:narrowMatch OMIM:605637 semapv:UnspecifiedMatching +GARD:9495 Amelogenesis imperfecta, hypomaturation type, iia1 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +GARD:9495 Amelogenesis imperfecta, hypomaturation type, iia1 skos:exactMatch OMIM:204700 semapv:UnspecifiedMatching +GARD:9496 Hereditary renal hypouricemia skos:exactMatch Orphanet:94088 semapv:UnspecifiedMatching +GARD:9496 Hereditary renal hypouricemia skos:narrowMatch OMIM:220150 semapv:UnspecifiedMatching +GARD:9496 Hereditary renal hypouricemia skos:narrowMatch OMIM:242050 semapv:UnspecifiedMatching +GARD:9496 Hereditary renal hypouricemia skos:narrowMatch OMIM:307830 semapv:UnspecifiedMatching +GARD:9496 Hereditary renal hypouricemia skos:narrowMatch OMIM:612076 semapv:UnspecifiedMatching +GARD:9499 Aceruloplasminemia skos:exactMatch Orphanet:48818 semapv:UnspecifiedMatching +GARD:9499 Aceruloplasminemia skos:narrowMatch OMIM:604290 semapv:UnspecifiedMatching +GARD:95 Mulibrey nanism skos:exactMatch Orphanet:2576 semapv:UnspecifiedMatching +GARD:95 Mulibrey nanism skos:narrowMatch OMIM:253250 semapv:UnspecifiedMatching +GARD:9501 Hereditary geniospasm skos:exactMatch Orphanet:53372 semapv:UnspecifiedMatching +GARD:9501 Hereditary geniospasm skos:narrowMatch OMIM:190100 semapv:UnspecifiedMatching +GARD:9504 Porokeratosis 4, disseminated superficial actinic type skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +GARD:9504 Porokeratosis 4, disseminated superficial actinic type skos:exactMatch OMIM:607728 semapv:UnspecifiedMatching +GARD:9505 Porokeratosis 3, multiple types skos:broadMatch Orphanet:735 semapv:UnspecifiedMatching +GARD:9505 Porokeratosis 3, multiple types skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +GARD:9505 Porokeratosis 3, multiple types skos:exactMatch OMIM:175900 semapv:UnspecifiedMatching +GARD:9506 Craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch Orphanet:85199 semapv:UnspecifiedMatching +GARD:9506 Craniosynostosis-anal anomalies-porokeratosis syndrome skos:narrowMatch OMIM:603116 semapv:UnspecifiedMatching +GARD:9508 Cerulean cataract skos:exactMatch Orphanet:98989 semapv:UnspecifiedMatching +GARD:9508 Cerulean cataract skos:narrowMatch OMIM:115660 semapv:UnspecifiedMatching +GARD:9508 Cerulean cataract skos:narrowMatch OMIM:614422 semapv:UnspecifiedMatching +GARD:9509 Renpenning syndrome skos:exactMatch Orphanet:3242 semapv:UnspecifiedMatching +GARD:9509 Renpenning syndrome skos:narrowMatch OMIM:309500 semapv:UnspecifiedMatching +GARD:9511 Histiocytoid cardiomyopathy skos:exactMatch Orphanet:137675 semapv:UnspecifiedMatching +GARD:9511 Histiocytoid cardiomyopathy skos:narrowMatch OMIM:212080 semapv:UnspecifiedMatching +GARD:9511 Histiocytoid cardiomyopathy skos:narrowMatch OMIM:500000 semapv:UnspecifiedMatching +GARD:9514 Phyllodes tumor of the breast skos:exactMatch Orphanet:180261 semapv:UnspecifiedMatching +GARD:9517 Bilateral multicystic dysplastic kidney skos:exactMatch Orphanet:97364 semapv:UnspecifiedMatching +GARD:9525 Coccidioidomycosis skos:exactMatch Orphanet:228123 semapv:UnspecifiedMatching +GARD:9528 Cyclosporosis skos:exactMatch Orphanet:210 semapv:UnspecifiedMatching +GARD:953 Congenital bowing of long bones skos:exactMatch Orphanet:2292 semapv:UnspecifiedMatching +GARD:953 Congenital bowing of long bones skos:narrowMatch OMIM:211355 semapv:UnspecifiedMatching +GARD:953 Congenital bowing of long bones skos:narrowMatch OMIM:264050 semapv:UnspecifiedMatching +GARD:9534 Chronic Epstein-Barr virus infection syndrome skos:exactMatch Orphanet:2566 semapv:UnspecifiedMatching +GARD:9534 Chronic Epstein-Barr virus infection syndrome skos:narrowMatch OMIM:226990 semapv:UnspecifiedMatching +GARD:9535 Familial cold urticaria skos:exactMatch Orphanet:47045 semapv:UnspecifiedMatching +GARD:9535 Familial cold urticaria skos:narrowMatch OMIM:120100 semapv:UnspecifiedMatching +GARD:9535 Familial cold urticaria skos:narrowMatch OMIM:616115 semapv:UnspecifiedMatching +GARD:9546 Melioidosis skos:exactMatch Orphanet:31202 semapv:UnspecifiedMatching +GARD:9546 Melioidosis skos:narrowMatch OMIM:615557 semapv:UnspecifiedMatching +GARD:955 Branchioskeletogenital syndrome skos:exactMatch Orphanet:1299 semapv:UnspecifiedMatching +GARD:955 Branchioskeletogenital syndrome skos:narrowMatch OMIM:211380 semapv:UnspecifiedMatching +GARD:9550 Variant Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576370 semapv:UnspecifiedMatching +GARD:9553 Post-transplant lymphoproliferative disease skos:exactMatch Orphanet:70568 semapv:UnspecifiedMatching +GARD:9557 Rat-bite fever skos:exactMatch Orphanet:31205 semapv:UnspecifiedMatching +GARD:9558 Autosomal dominant severe congenital neutropenia skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching +GARD:9558 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:202700 semapv:UnspecifiedMatching +GARD:9558 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:257100 semapv:UnspecifiedMatching +GARD:9558 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:613107 semapv:UnspecifiedMatching +GARD:9558 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:618752 semapv:UnspecifiedMatching +GARD:9560 Bacterial toxic-shock syndrome skos:exactMatch Orphanet:36234 semapv:UnspecifiedMatching +GARD:9564 Typhoid skos:exactMatch Orphanet:99745 semapv:UnspecifiedMatching +GARD:9568 IgG4-related retroperitoneal fibrosis skos:exactMatch Orphanet:49041 semapv:UnspecifiedMatching +GARD:9568 IgG4-related retroperitoneal fibrosis skos:narrowMatch OMIM:228800 semapv:UnspecifiedMatching +GARD:9569 Dermatofibrosarcoma protuberans skos:exactMatch Orphanet:31112 semapv:UnspecifiedMatching +GARD:9569 Dermatofibrosarcoma protuberans skos:narrowMatch OMIM:607907 semapv:UnspecifiedMatching +GARD:957 SPECC1L-related hypertelorism syndrome skos:exactMatch Orphanet:1519 semapv:UnspecifiedMatching +GARD:957 SPECC1L-related hypertelorism syndrome skos:narrowMatch OMIM:145420 semapv:UnspecifiedMatching +GARD:9571 Hereditary clear cell renal cell carcinoma skos:exactMatch Orphanet:422526 semapv:UnspecifiedMatching +GARD:9571 Hereditary clear cell renal cell carcinoma skos:narrowMatch OMIM:144700 semapv:UnspecifiedMatching +GARD:9572 Papillary renal cell carcinoma skos:exactMatch Orphanet:319298 semapv:UnspecifiedMatching +GARD:9573 Collecting duct carcinoma skos:exactMatch Orphanet:247203 semapv:UnspecifiedMatching +GARD:9574 Clear cell renal carcinoma skos:exactMatch Orphanet:319276 semapv:UnspecifiedMatching +GARD:9578 Acute fatty liver of pregnancy skos:exactMatch Orphanet:243367 semapv:UnspecifiedMatching +GARD:958 Aymé-Gripp syndrome skos:exactMatch Orphanet:1272 semapv:UnspecifiedMatching +GARD:958 Aymé-Gripp syndrome skos:narrowMatch OMIM:601088 semapv:UnspecifiedMatching +GARD:958 Aymé-Gripp syndrome skos:narrowMatch OMIM:601353 semapv:UnspecifiedMatching +GARD:9581 Autosomal recessive spastic paraplegia type 15 skos:exactMatch Orphanet:100996 semapv:UnspecifiedMatching +GARD:9581 Autosomal recessive spastic paraplegia type 15 skos:narrowMatch OMIM:270700 semapv:UnspecifiedMatching +GARD:9582 Autosomal recessive spastic paraplegia type 25 skos:exactMatch Orphanet:101005 semapv:UnspecifiedMatching +GARD:9582 Autosomal recessive spastic paraplegia type 25 skos:narrowMatch OMIM:608220 semapv:UnspecifiedMatching +GARD:9583 Autosomal dominant spastic paraplegia type 9A skos:exactMatch Orphanet:447753 semapv:UnspecifiedMatching +GARD:9583 Autosomal dominant spastic paraplegia type 9A skos:narrowMatch OMIM:601162 semapv:UnspecifiedMatching +GARD:9585 X-linked spastic paraplegia type 16 skos:exactMatch Orphanet:100997 semapv:UnspecifiedMatching +GARD:9585 X-linked spastic paraplegia type 16 skos:narrowMatch OMIM:300266 semapv:UnspecifiedMatching +GARD:9586 Autosomal dominant spastic paraplegia type 12 skos:exactMatch Orphanet:100993 semapv:UnspecifiedMatching +GARD:9586 Autosomal dominant spastic paraplegia type 12 skos:narrowMatch OMIM:604805 semapv:UnspecifiedMatching +GARD:9587 Autosomal recessive spastic paraplegia type 26 skos:exactMatch Orphanet:101006 semapv:UnspecifiedMatching +GARD:9587 Autosomal recessive spastic paraplegia type 26 skos:narrowMatch OMIM:609195 semapv:UnspecifiedMatching +GARD:9588 Autosomal dominant spastic paraplegia type 19 skos:exactMatch Orphanet:100999 semapv:UnspecifiedMatching +GARD:9588 Autosomal dominant spastic paraplegia type 19 skos:narrowMatch OMIM:607152 semapv:UnspecifiedMatching +GARD:9589 Autosomal recessive spastic paraplegia type 14 skos:exactMatch Orphanet:100995 semapv:UnspecifiedMatching +GARD:9589 Autosomal recessive spastic paraplegia type 14 skos:narrowMatch OMIM:605229 semapv:UnspecifiedMatching +GARD:9590 Autosomal dominant spastic paraplegia type 10 skos:exactMatch Orphanet:100991 semapv:UnspecifiedMatching +GARD:9590 Autosomal dominant spastic paraplegia type 10 skos:narrowMatch OMIM:604187 semapv:UnspecifiedMatching +GARD:9591 Autosomal dominant spastic paraplegia type 8 skos:exactMatch Orphanet:100989 semapv:UnspecifiedMatching +GARD:9591 Autosomal dominant spastic paraplegia type 8 skos:narrowMatch OMIM:603563 semapv:UnspecifiedMatching +GARD:9595 Congenital atransferrinemia skos:exactMatch Orphanet:1195 semapv:UnspecifiedMatching +GARD:9595 Congenital atransferrinemia skos:narrowMatch OMIM:209300 semapv:UnspecifiedMatching +GARD:9598 Basal ganglia calcification, idiopathic, childhood-onset skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +GARD:9598 Basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch OMIM:114100 semapv:UnspecifiedMatching +GARD:960 Brachydactylous dwarfism, Mseleni type skos:exactMatch Orphanet:2619 semapv:UnspecifiedMatching +GARD:960 Brachydactylous dwarfism, Mseleni type skos:narrowMatch OMIM:613342 semapv:UnspecifiedMatching +GARD:9602 Familial paroxysmal ataxia skos:exactMatch Orphanet:97 semapv:UnspecifiedMatching +GARD:9602 Familial paroxysmal ataxia skos:narrowMatch OMIM:108500 semapv:UnspecifiedMatching +GARD:9611 Spinocerebellar ataxia type 13 skos:exactMatch Orphanet:98768 semapv:UnspecifiedMatching +GARD:9611 Spinocerebellar ataxia type 13 skos:narrowMatch OMIM:605259 semapv:UnspecifiedMatching +GARD:9615 Giant cell arteritis skos:exactMatch Orphanet:397 semapv:UnspecifiedMatching +GARD:9615 Giant cell arteritis skos:narrowMatch OMIM:187360 semapv:UnspecifiedMatching +GARD:9616 Autosomal dominant spastic paraplegia type 13 skos:exactMatch Orphanet:100994 semapv:UnspecifiedMatching +GARD:9616 Autosomal dominant spastic paraplegia type 13 skos:narrowMatch OMIM:605280 semapv:UnspecifiedMatching +GARD:9620 Acute erythroid leukemia skos:exactMatch Orphanet:318 semapv:UnspecifiedMatching +GARD:9620 Acute erythroid leukemia skos:narrowMatch OMIM:133180 semapv:UnspecifiedMatching +GARD:9621 Polyembryoma skos:exactMatch Orphanet:180229 semapv:UnspecifiedMatching +GARD:9626 Axenfeld-rieger syndrome, type 3 skos:broadMatch Orphanet:782 semapv:UnspecifiedMatching +GARD:9626 Axenfeld-rieger syndrome, type 3 skos:broadMatch Orphanet:91483 semapv:UnspecifiedMatching +GARD:9626 Axenfeld-rieger syndrome, type 3 skos:broadMatch Orphanet:98978 semapv:UnspecifiedMatching +GARD:9626 Axenfeld-rieger syndrome, type 3 skos:exactMatch OMIM:602482 semapv:UnspecifiedMatching +GARD:9628 Rapid-onset dystonia-parkinsonism skos:exactMatch Orphanet:71517 semapv:UnspecifiedMatching +GARD:9628 Rapid-onset dystonia-parkinsonism skos:narrowMatch OMIM:128235 semapv:UnspecifiedMatching +GARD:9630 Primary dystonia, DYT6 type skos:exactMatch Orphanet:98806 semapv:UnspecifiedMatching +GARD:9630 Primary dystonia, DYT6 type skos:narrowMatch OMIM:602629 semapv:UnspecifiedMatching +GARD:9631 Torsion dystonia with onset in infancy skos:broadMatch Orphanet:256 semapv:UnspecifiedMatching +GARD:9631 Torsion dystonia with onset in infancy skos:exactMatch OMIM:602554 semapv:UnspecifiedMatching +GARD:9632 Odontoleukodystrophy skos:exactMatch Orphanet:77295 semapv:UnspecifiedMatching +GARD:9632 Odontoleukodystrophy skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +GARD:9633 Fundus dystrophy, pseudoinflammatory, recessive form skos:broadMatch Orphanet:59181 semapv:UnspecifiedMatching +GARD:9633 Fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch OMIM:264420 semapv:UnspecifiedMatching +GARD:9634 Fetal akinesia deformation sequence skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching +GARD:9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:208150 semapv:UnspecifiedMatching +GARD:9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:300073 semapv:UnspecifiedMatching +GARD:9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:618388 semapv:UnspecifiedMatching +GARD:9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:618389 semapv:UnspecifiedMatching +GARD:9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:618393 semapv:UnspecifiedMatching +GARD:9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:618975 semapv:UnspecifiedMatching +GARD:9635 Pruritic urticarial papules and plaques of pregnancy skos:exactMatch Orphanet:64745 semapv:UnspecifiedMatching +GARD:9635 Pruritic urticarial papules and plaques of pregnancy skos:narrowMatch OMIM:178995 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:exactMatch Orphanet:33110 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:601495 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:612692 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:613500 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:613501 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:613502 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:613506 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:615214 semapv:UnspecifiedMatching +GARD:9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:616941 semapv:UnspecifiedMatching +GARD:9642 Parkinson disease 2, autosomal recessive juvenile skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +GARD:9642 Parkinson disease 2, autosomal recessive juvenile skos:exactMatch OMIM:600116 semapv:UnspecifiedMatching +GARD:9643 Pseudoxanthoma elasticum skos:exactMatch Orphanet:758 semapv:UnspecifiedMatching +GARD:9643 Pseudoxanthoma elasticum skos:narrowMatch OMIM:177850 semapv:UnspecifiedMatching +GARD:9643 Pseudoxanthoma elasticum skos:narrowMatch OMIM:264800 semapv:UnspecifiedMatching +GARD:9647 Gelatinous drop-like corneal dystrophy skos:exactMatch Orphanet:98957 semapv:UnspecifiedMatching +GARD:9647 Gelatinous drop-like corneal dystrophy skos:narrowMatch OMIM:204870 semapv:UnspecifiedMatching +GARD:9649 Achromatopsia 2 skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +GARD:9649 Achromatopsia 2 skos:exactMatch OMIM:216900 semapv:UnspecifiedMatching +GARD:9650 Achromatopsia 3 skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +GARD:9650 Achromatopsia 3 skos:exactMatch OMIM:262300 semapv:UnspecifiedMatching +GARD:9652 Oncogenic osteomalacia skos:exactMatch Orphanet:352540 semapv:UnspecifiedMatching +GARD:9654 Hydroa vacciniforme skos:exactMatch Orphanet:330058 semapv:UnspecifiedMatching +GARD:9657 Anauxetic dysplasia skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching +GARD:9657 Anauxetic dysplasia skos:narrowMatch OMIM:607095 semapv:UnspecifiedMatching +GARD:9657 Anauxetic dysplasia skos:narrowMatch OMIM:617396 semapv:UnspecifiedMatching +GARD:9657 Anauxetic dysplasia skos:narrowMatch OMIM:618853 semapv:UnspecifiedMatching +GARD:9659 Bartter syndrome type 3 skos:exactMatch Orphanet:93605 semapv:UnspecifiedMatching +GARD:9659 Bartter syndrome type 3 skos:narrowMatch OMIM:607364 semapv:UnspecifiedMatching +GARD:966 Brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch Orphanet:1275 semapv:UnspecifiedMatching +GARD:966 Brachydactyly-elbow wrist dysplasia syndrome skos:narrowMatch OMIM:186550 semapv:UnspecifiedMatching +GARD:9661 Leber congenital amaurosis 3 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:9661 Leber congenital amaurosis 3 skos:exactMatch OMIM:604232 semapv:UnspecifiedMatching +GARD:9662 Leber congenital amaurosis 4 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:9662 Leber congenital amaurosis 4 skos:exactMatch OMIM:604393 semapv:UnspecifiedMatching +GARD:9665 Gynandroblastoma skos:exactMatch Orphanet:99914 semapv:UnspecifiedMatching +GARD:967 Brachydactyly-arterial hypertension syndrome skos:exactMatch Orphanet:1276 semapv:UnspecifiedMatching +GARD:967 Brachydactyly-arterial hypertension syndrome skos:narrowMatch OMIM:112410 semapv:UnspecifiedMatching +GARD:9670 Congenital factor XI deficiency skos:exactMatch Orphanet:329 semapv:UnspecifiedMatching +GARD:9670 Congenital factor XI deficiency skos:narrowMatch OMIM:612416 semapv:UnspecifiedMatching +GARD:9673 Mowat-Wilson syndrome skos:exactMatch Orphanet:2152 semapv:UnspecifiedMatching +GARD:9673 Mowat-Wilson syndrome skos:narrowMatch OMIM:235730 semapv:UnspecifiedMatching +GARD:9675 Isotretinoin-like syndrome skos:exactMatch Orphanet:2306 semapv:UnspecifiedMatching +GARD:9675 Isotretinoin-like syndrome skos:narrowMatch OMIM:243440 semapv:UnspecifiedMatching +GARD:9676 Miyoshi myopathy skos:exactMatch Orphanet:45448 semapv:UnspecifiedMatching +GARD:9676 Miyoshi myopathy skos:narrowMatch OMIM:254130 semapv:UnspecifiedMatching +GARD:9676 Miyoshi myopathy skos:narrowMatch OMIM:613318 semapv:UnspecifiedMatching +GARD:9677 Granular corneal dystrophy type I skos:exactMatch Orphanet:98962 semapv:UnspecifiedMatching +GARD:9677 Granular corneal dystrophy type I skos:narrowMatch OMIM:121900 semapv:UnspecifiedMatching +GARD:9678 Lattice corneal dystrophy type I skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching +GARD:9678 Lattice corneal dystrophy type I skos:narrowMatch OMIM:122200 semapv:UnspecifiedMatching +GARD:9678 Lattice corneal dystrophy type I skos:narrowMatch OMIM:608471 semapv:UnspecifiedMatching +GARD:9679 Temtamy preaxial brachydactyly syndrome skos:exactMatch Orphanet:363417 semapv:UnspecifiedMatching +GARD:9679 Temtamy preaxial brachydactyly syndrome skos:narrowMatch OMIM:605282 semapv:UnspecifiedMatching +GARD:968 Brachydactyly-long thumb syndrome skos:exactMatch Orphanet:2946 semapv:UnspecifiedMatching +GARD:968 Brachydactyly-long thumb syndrome skos:narrowMatch OMIM:112430 semapv:UnspecifiedMatching +GARD:9681 RHYNS syndrome skos:exactMatch Orphanet:140976 semapv:UnspecifiedMatching +GARD:9681 RHYNS syndrome skos:narrowMatch OMIM:602152 semapv:UnspecifiedMatching +GARD:9682 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch Orphanet:309803 semapv:UnspecifiedMatching +GARD:9682 Rhizomelic chondrodysplasia punctata type 3 skos:narrowMatch OMIM:600121 semapv:UnspecifiedMatching +GARD:9683 Chylomicron retention disease skos:exactMatch Orphanet:71 semapv:UnspecifiedMatching +GARD:9683 Chylomicron retention disease skos:narrowMatch OMIM:246700 semapv:UnspecifiedMatching +GARD:9684 Sandifer syndrome skos:exactMatch Orphanet:71272 semapv:UnspecifiedMatching +GARD:9687 Schistosomiasis skos:exactMatch Orphanet:1247 semapv:UnspecifiedMatching +GARD:9687 Schistosomiasis skos:narrowMatch OMIM:181460 semapv:UnspecifiedMatching +GARD:9688 Meesmann corneal dystrophy skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching +GARD:9688 Meesmann corneal dystrophy skos:narrowMatch OMIM:122100 semapv:UnspecifiedMatching +GARD:9688 Meesmann corneal dystrophy skos:narrowMatch OMIM:618767 semapv:UnspecifiedMatching +GARD:9689 Myasthenic syndrome, congenital, 6, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +GARD:9689 Myasthenic syndrome, congenital, 6, presynaptic skos:exactMatch OMIM:254210 semapv:UnspecifiedMatching +GARD:9690 Kienbock disease skos:exactMatch Orphanet:97332 semapv:UnspecifiedMatching +GARD:9692 Congenital patella dislocation skos:exactMatch Orphanet:295036 semapv:UnspecifiedMatching +GARD:9694 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch Orphanet:79403 semapv:UnspecifiedMatching +GARD:9694 Junctional epidermolysis bullosa with pyloric atresia skos:narrowMatch OMIM:226730 semapv:UnspecifiedMatching +GARD:9696 Ring dermoid of cornea skos:exactMatch Orphanet:91481 semapv:UnspecifiedMatching +GARD:9696 Ring dermoid of cornea skos:narrowMatch OMIM:180550 semapv:UnspecifiedMatching +GARD:9697 Monomelic amyotrophy skos:exactMatch Orphanet:65684 semapv:UnspecifiedMatching +GARD:9697 Monomelic amyotrophy skos:narrowMatch OMIM:602440 semapv:UnspecifiedMatching +GARD:9698 Recombinant 8 syndrome skos:exactMatch Orphanet:96167 semapv:UnspecifiedMatching +GARD:9698 Recombinant 8 syndrome skos:narrowMatch OMIM:179613 semapv:UnspecifiedMatching +GARD:9701 Spinal intradural arachnoid cysts skos:broadMatch Orphanet:2356 semapv:UnspecifiedMatching +GARD:9701 Spinal intradural arachnoid cysts skos:exactMatch OMIM:182990 semapv:UnspecifiedMatching +GARD:9703 Spondylocostal dysostosis 2, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +GARD:9703 Spondylocostal dysostosis 2, autosomal recessive skos:exactMatch OMIM:608681 semapv:UnspecifiedMatching +GARD:9704 X-linked intellectual disability, Siderius type skos:exactMatch Orphanet:85287 semapv:UnspecifiedMatching +GARD:9704 X-linked intellectual disability, Siderius type skos:narrowMatch OMIM:300263 semapv:UnspecifiedMatching +GARD:9705 Ectodermal dysplasia-skin fragility syndrome skos:exactMatch Orphanet:158668 semapv:UnspecifiedMatching +GARD:9705 Ectodermal dysplasia-skin fragility syndrome skos:narrowMatch OMIM:604536 semapv:UnspecifiedMatching +GARD:9706 Snowflake vitreoretinal degeneration skos:exactMatch Orphanet:91496 semapv:UnspecifiedMatching +GARD:9706 Snowflake vitreoretinal degeneration skos:narrowMatch OMIM:193230 semapv:UnspecifiedMatching +GARD:9707 Familial cylindromatosis skos:exactMatch Orphanet:211 semapv:UnspecifiedMatching +GARD:9707 Familial cylindromatosis skos:narrowMatch OMIM:132700 semapv:UnspecifiedMatching +GARD:971 Brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch Orphanet:1246 semapv:UnspecifiedMatching +GARD:971 Brachydactyly-nystagmus-cerebellar ataxia syndrome skos:narrowMatch OMIM:113400 semapv:UnspecifiedMatching +GARD:9711 Lathosterolosis skos:exactMatch Orphanet:46059 semapv:UnspecifiedMatching +GARD:9711 Lathosterolosis skos:narrowMatch OMIM:607330 semapv:UnspecifiedMatching +GARD:9715 Griscelli syndrome type 3 skos:exactMatch Orphanet:79478 semapv:UnspecifiedMatching +GARD:9715 Griscelli syndrome type 3 skos:narrowMatch OMIM:609227 semapv:UnspecifiedMatching +GARD:972 Brachydactyly-preaxial hallux varus syndrome skos:exactMatch Orphanet:1278 semapv:UnspecifiedMatching +GARD:972 Brachydactyly-preaxial hallux varus syndrome skos:narrowMatch OMIM:112450 semapv:UnspecifiedMatching +GARD:9723 Ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch Orphanet:1883 semapv:UnspecifiedMatching +GARD:9723 Ectodermal dysplasia-sensorineural deafness syndrome skos:narrowMatch OMIM:224800 semapv:UnspecifiedMatching +GARD:9725 Nephrogenic systemic fibrosis skos:exactMatch Orphanet:137617 semapv:UnspecifiedMatching +GARD:9726 Deafness, autosomal dominant 17 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:9726 Deafness, autosomal dominant 17 skos:exactMatch OMIM:603622 semapv:UnspecifiedMatching +GARD:9728 Proximal myotonic myopathy skos:exactMatch Orphanet:606 semapv:UnspecifiedMatching +GARD:9728 Proximal myotonic myopathy skos:narrowMatch OMIM:602668 semapv:UnspecifiedMatching +GARD:9729 Autosomal dominant spastic paraplegia type 29 skos:exactMatch Orphanet:101009 semapv:UnspecifiedMatching +GARD:9729 Autosomal dominant spastic paraplegia type 29 skos:narrowMatch OMIM:609727 semapv:UnspecifiedMatching +GARD:9730 Glycogen storage disease due to LAMP-2 deficiency skos:exactMatch Orphanet:34587 semapv:UnspecifiedMatching +GARD:9730 Glycogen storage disease due to LAMP-2 deficiency skos:narrowMatch OMIM:300257 semapv:UnspecifiedMatching +GARD:9732 Epithelial basement membrane dystrophy skos:exactMatch Orphanet:98956 semapv:UnspecifiedMatching +GARD:9732 Epithelial basement membrane dystrophy skos:narrowMatch OMIM:121820 semapv:UnspecifiedMatching +GARD:9733 Ichthyosis, congenital, autosomal recessive 4a skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +GARD:9733 Ichthyosis, congenital, autosomal recessive 4a skos:exactMatch OMIM:601277 semapv:UnspecifiedMatching +GARD:9734 Ichthyosis, congenital, autosomal recessive 5 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +GARD:9734 Ichthyosis, congenital, autosomal recessive 5 skos:exactMatch OMIM:604777 semapv:UnspecifiedMatching +GARD:9736 Congenital non-bullous ichthyosiform erythroderma skos:exactMatch Orphanet:79394 semapv:UnspecifiedMatching +GARD:9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:242100 semapv:UnspecifiedMatching +GARD:9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:606545 semapv:UnspecifiedMatching +GARD:9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:612281 semapv:UnspecifiedMatching +GARD:9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615022 semapv:UnspecifiedMatching +GARD:9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615023 semapv:UnspecifiedMatching +GARD:9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615024 semapv:UnspecifiedMatching +GARD:9737 Epidermolysis bullosa simplex with mottled pigmentation skos:exactMatch Orphanet:79397 semapv:UnspecifiedMatching +GARD:9737 Epidermolysis bullosa simplex with mottled pigmentation skos:narrowMatch OMIM:131960 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:exactMatch Orphanet:334 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:607554 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:608583 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:608988 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:611493 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:611494 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:611819 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:612201 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:612240 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:613055 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:613120 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:613980 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:614022 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:614049 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:614050 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:615377 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:615378 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:615770 semapv:UnspecifiedMatching +GARD:9740 Familial atrial fibrillation skos:narrowMatch OMIM:617280 semapv:UnspecifiedMatching +GARD:9741 Neurological conditions associated with aminoacylase 1 deficiency skos:exactMatch Orphanet:137754 semapv:UnspecifiedMatching +GARD:9741 Neurological conditions associated with aminoacylase 1 deficiency skos:narrowMatch OMIM:609924 semapv:UnspecifiedMatching +GARD:9742 Ankylostomiasis skos:exactMatch Orphanet:78 semapv:UnspecifiedMatching +GARD:9744 Atrophoderma vermiculata skos:exactMatch Orphanet:79100 semapv:UnspecifiedMatching +GARD:9744 Atrophoderma vermiculata skos:narrowMatch OMIM:209700 semapv:UnspecifiedMatching +GARD:9744 Atrophoderma vermiculata skos:narrowMatch OMIM:604093 semapv:UnspecifiedMatching +GARD:9748 Systemic sclerosis skos:exactMatch Orphanet:90291 semapv:UnspecifiedMatching +GARD:9748 Systemic sclerosis skos:narrowMatch OMIM:181750 semapv:UnspecifiedMatching +GARD:9749 Limited systemic sclerosis skos:exactMatch Orphanet:220407 semapv:UnspecifiedMatching +GARD:9751 Diffuse cutaneous systemic sclerosis skos:exactMatch Orphanet:220393 semapv:UnspecifiedMatching +GARD:9755 Infantile nephropathic cystinosis skos:exactMatch Orphanet:411629 semapv:UnspecifiedMatching +GARD:9755 Infantile nephropathic cystinosis skos:narrowMatch OMIM:219800 semapv:UnspecifiedMatching +GARD:9756 Ocular cystinosis skos:exactMatch Orphanet:411641 semapv:UnspecifiedMatching +GARD:9756 Ocular cystinosis skos:narrowMatch OMIM:219750 semapv:UnspecifiedMatching +GARD:9758 Familial hypocalciuric hypercalcemia type 2 skos:exactMatch Orphanet:101049 semapv:UnspecifiedMatching +GARD:9758 Familial hypocalciuric hypercalcemia type 2 skos:narrowMatch OMIM:145981 semapv:UnspecifiedMatching +GARD:9759 Leukonychia totalis skos:exactMatch Orphanet:2387 semapv:UnspecifiedMatching +GARD:9759 Leukonychia totalis skos:narrowMatch OMIM:151600 semapv:UnspecifiedMatching +GARD:9761 Isolated congenital onychodysplasia skos:exactMatch Orphanet:79144 semapv:UnspecifiedMatching +GARD:9761 Isolated congenital onychodysplasia skos:narrowMatch OMIM:605779 semapv:UnspecifiedMatching +GARD:9762 Potocki-Shaffer syndrome skos:exactMatch Orphanet:52022 semapv:UnspecifiedMatching +GARD:9762 Potocki-Shaffer syndrome skos:narrowMatch OMIM:601224 semapv:UnspecifiedMatching +GARD:9766 Morvan syndrome skos:exactMatch Orphanet:83467 semapv:UnspecifiedMatching +GARD:9767 Necrotizing enterocolitis skos:exactMatch Orphanet:391673 semapv:UnspecifiedMatching +GARD:9769 Oligoastrocytoma skos:exactMatch Orphanet:251656 semapv:UnspecifiedMatching +GARD:9775 Dowling-Degos disease skos:exactMatch Orphanet:79145 semapv:UnspecifiedMatching +GARD:9775 Dowling-Degos disease skos:narrowMatch OMIM:179850 semapv:UnspecifiedMatching +GARD:9775 Dowling-Degos disease skos:narrowMatch OMIM:615327 semapv:UnspecifiedMatching +GARD:9775 Dowling-Degos disease skos:narrowMatch OMIM:615674 semapv:UnspecifiedMatching +GARD:9775 Dowling-Degos disease skos:narrowMatch OMIM:615696 semapv:UnspecifiedMatching +GARD:9778 CANOMAD syndrome skos:exactMatch Orphanet:71279 semapv:UnspecifiedMatching +GARD:978 Brachydactyly type A1 skos:exactMatch Orphanet:93388 semapv:UnspecifiedMatching +GARD:978 Brachydactyly type A1 skos:narrowMatch OMIM:112500 semapv:UnspecifiedMatching +GARD:978 Brachydactyly type A1 skos:narrowMatch OMIM:607004 semapv:UnspecifiedMatching +GARD:978 Brachydactyly type A1 skos:narrowMatch OMIM:615072 semapv:UnspecifiedMatching +GARD:978 Brachydactyly type A1 skos:narrowMatch OMIM:616849 semapv:UnspecifiedMatching +GARD:9781 Proximal Xq28 duplication syndrome skos:exactMatch Orphanet:1762 semapv:UnspecifiedMatching +GARD:9781 Proximal Xq28 duplication syndrome skos:narrowMatch OMIM:300260 semapv:UnspecifiedMatching +GARD:9781 Proximal Xq28 duplication syndrome skos:narrowMatch OMIM:300815 semapv:UnspecifiedMatching +GARD:9787 Parkes Weber syndrome skos:exactMatch Orphanet:90307 semapv:UnspecifiedMatching +GARD:9787 Parkes Weber syndrome skos:narrowMatch OMIM:608354 semapv:UnspecifiedMatching +GARD:9789 Rare lymphatic malformation skos:exactMatch Orphanet:2415 semapv:UnspecifiedMatching +GARD:979 Brachydactyly type A2 skos:exactMatch Orphanet:93396 semapv:UnspecifiedMatching +GARD:979 Brachydactyly type A2 skos:narrowMatch OMIM:112600 semapv:UnspecifiedMatching +GARD:9791 Epiphyseal dysplasia, multiple, 2 skos:broadMatch Orphanet:166002 semapv:UnspecifiedMatching +GARD:9791 Epiphyseal dysplasia, multiple, 2 skos:exactMatch OMIM:600204 semapv:UnspecifiedMatching +GARD:9792 Epiphyseal dysplasia, multiple, 3 skos:broadMatch Orphanet:166002 semapv:UnspecifiedMatching +GARD:9792 Epiphyseal dysplasia, multiple, 3 skos:exactMatch OMIM:600969 semapv:UnspecifiedMatching +GARD:9793 Multiple epiphyseal dysplasia type 4 skos:exactMatch Orphanet:93307 semapv:UnspecifiedMatching +GARD:9793 Multiple epiphyseal dysplasia type 4 skos:narrowMatch OMIM:226900 semapv:UnspecifiedMatching +GARD:9794 Multiple epiphyseal dysplasia type 5 skos:exactMatch Orphanet:93311 semapv:UnspecifiedMatching +GARD:9794 Multiple epiphyseal dysplasia type 5 skos:narrowMatch OMIM:607078 semapv:UnspecifiedMatching +GARD:9795 Naxos disease skos:exactMatch Orphanet:34217 semapv:UnspecifiedMatching +GARD:9795 Naxos disease skos:narrowMatch OMIM:601214 semapv:UnspecifiedMatching +GARD:9796 Autoimmune lymphoproliferative syndrome with recurrent viral infections skos:exactMatch Orphanet:275517 semapv:UnspecifiedMatching +GARD:9796 Autoimmune lymphoproliferative syndrome with recurrent viral infections skos:narrowMatch OMIM:607271 semapv:UnspecifiedMatching +GARD:9797 Dianzani autoimmune lymphoproliferative disease skos:exactMatch Orphanet:275523 semapv:UnspecifiedMatching +GARD:9797 Dianzani autoimmune lymphoproliferative disease skos:narrowMatch OMIM:605233 semapv:UnspecifiedMatching +GARD:9798 Auriculocondylar syndrome skos:exactMatch Orphanet:137888 semapv:UnspecifiedMatching +GARD:9798 Auriculocondylar syndrome skos:narrowMatch OMIM:602483 semapv:UnspecifiedMatching +GARD:9798 Auriculocondylar syndrome skos:narrowMatch OMIM:612798 semapv:UnspecifiedMatching +GARD:9798 Auriculocondylar syndrome skos:narrowMatch OMIM:614669 semapv:UnspecifiedMatching +GARD:9798 Auriculocondylar syndrome skos:narrowMatch OMIM:615706 semapv:UnspecifiedMatching +GARD:9799 Familial cutaneous collagenoma skos:exactMatch Orphanet:53296 semapv:UnspecifiedMatching +GARD:9799 Familial cutaneous collagenoma skos:narrowMatch OMIM:115250 semapv:UnspecifiedMatching +GARD:9802 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch Orphanet:79306 semapv:UnspecifiedMatching +GARD:9802 Progressive familial intrahepatic cholestasis type 1 skos:narrowMatch OMIM:211600 semapv:UnspecifiedMatching +GARD:9803 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch Orphanet:480483 semapv:UnspecifiedMatching +GARD:9803 Progressive familial intrahepatic cholestasis type 4 skos:narrowMatch OMIM:615878 semapv:UnspecifiedMatching +GARD:9804 Intrahepatic cholestasis of pregnancy skos:exactMatch Orphanet:69665 semapv:UnspecifiedMatching +GARD:9804 Intrahepatic cholestasis of pregnancy skos:narrowMatch OMIM:147480 semapv:UnspecifiedMatching +GARD:9804 Intrahepatic cholestasis of pregnancy skos:narrowMatch OMIM:614972 semapv:UnspecifiedMatching +GARD:9806 Vibratory urticaria skos:exactMatch Orphanet:493342 semapv:UnspecifiedMatching +GARD:9806 Vibratory urticaria skos:narrowMatch OMIM:125630 semapv:UnspecifiedMatching +GARD:9808 Pilocytic astrocytoma skos:exactMatch Orphanet:251612 semapv:UnspecifiedMatching +GARD:9809 Enteropathy-associated T-cell lymphoma skos:exactMatch Orphanet:86880 semapv:UnspecifiedMatching +GARD:9810 Dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch Orphanet:156731 semapv:UnspecifiedMatching +GARD:9810 Dyssegmental dysplasia, Rolland-Desbuquois type skos:narrowMatch OMIM:224400 semapv:UnspecifiedMatching +GARD:9811 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch Orphanet:3044 semapv:UnspecifiedMatching +GARD:9811 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:narrowMatch OMIM:249599 semapv:UnspecifiedMatching +GARD:9812 T-cell large granular lymphocyte leukemia skos:exactMatch Orphanet:86872 semapv:UnspecifiedMatching +GARD:9813 Congenital bile acid synthesis defect type 1 skos:exactMatch Orphanet:79301 semapv:UnspecifiedMatching +GARD:9813 Congenital bile acid synthesis defect type 1 skos:narrowMatch OMIM:607765 semapv:UnspecifiedMatching +GARD:9814 Tukel syndrome skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +GARD:9814 Tukel syndrome skos:exactMatch OMIM:609428 semapv:UnspecifiedMatching +GARD:9817 Autosomal dominant dopa-responsive dystonia skos:exactMatch Orphanet:98808 semapv:UnspecifiedMatching +GARD:9817 Autosomal dominant dopa-responsive dystonia skos:narrowMatch OMIM:128230 semapv:UnspecifiedMatching +GARD:9818 Developmental malformations-deafness-dystonia syndrome skos:exactMatch Orphanet:79107 semapv:UnspecifiedMatching +GARD:9818 Developmental malformations-deafness-dystonia syndrome skos:narrowMatch OMIM:607371 semapv:UnspecifiedMatching +GARD:9820 Catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:464343 semapv:UnspecifiedMatching +GARD:9821 Pattern dystrophy skos:exactMatch Orphanet:63454 semapv:UnspecifiedMatching +GARD:9826 PMM2-CDG skos:exactMatch Orphanet:79318 semapv:UnspecifiedMatching +GARD:9826 PMM2-CDG skos:narrowMatch OMIM:212065 semapv:UnspecifiedMatching +GARD:9827 ALG3-CDG skos:exactMatch Orphanet:79321 semapv:UnspecifiedMatching +GARD:9827 ALG3-CDG skos:narrowMatch OMIM:601110 semapv:UnspecifiedMatching +GARD:9828 MGAT2-CDG skos:exactMatch Orphanet:79329 semapv:UnspecifiedMatching +GARD:9828 MGAT2-CDG skos:narrowMatch OMIM:212066 semapv:UnspecifiedMatching +GARD:9829 ALG6-CDG skos:exactMatch Orphanet:79320 semapv:UnspecifiedMatching +GARD:9829 ALG6-CDG skos:narrowMatch OMIM:603147 semapv:UnspecifiedMatching +GARD:983 Brachydactyly type A6 skos:exactMatch Orphanet:93382 semapv:UnspecifiedMatching +GARD:983 Brachydactyly type A6 skos:narrowMatch OMIM:112910 semapv:UnspecifiedMatching +GARD:9830 MPI-CDG skos:exactMatch Orphanet:79319 semapv:UnspecifiedMatching +GARD:9830 MPI-CDG skos:narrowMatch OMIM:602579 semapv:UnspecifiedMatching +GARD:9831 DPM1-CDG skos:exactMatch Orphanet:79322 semapv:UnspecifiedMatching +GARD:9831 DPM1-CDG skos:narrowMatch OMIM:608799 semapv:UnspecifiedMatching +GARD:9832 MPDU1-CDG skos:exactMatch Orphanet:79323 semapv:UnspecifiedMatching +GARD:9832 MPDU1-CDG skos:narrowMatch OMIM:609180 semapv:UnspecifiedMatching +GARD:9833 ALG12-CDG skos:exactMatch Orphanet:79324 semapv:UnspecifiedMatching +GARD:9833 ALG12-CDG skos:narrowMatch OMIM:607143 semapv:UnspecifiedMatching +GARD:9834 ALG8-CDG skos:exactMatch Orphanet:79325 semapv:UnspecifiedMatching +GARD:9834 ALG8-CDG skos:narrowMatch OMIM:608104 semapv:UnspecifiedMatching +GARD:9835 Emanuel syndrome skos:exactMatch Orphanet:96170 semapv:UnspecifiedMatching +GARD:9835 Emanuel syndrome skos:narrowMatch OMIM:609029 semapv:UnspecifiedMatching +GARD:9836 ALG2-CDG skos:exactMatch Orphanet:79326 semapv:UnspecifiedMatching +GARD:9836 ALG2-CDG skos:narrowMatch OMIM:607906 semapv:UnspecifiedMatching +GARD:9837 DPAGT1-CDG skos:exactMatch Orphanet:86309 semapv:UnspecifiedMatching +GARD:9837 DPAGT1-CDG skos:narrowMatch OMIM:608093 semapv:UnspecifiedMatching +GARD:9838 ALG1-CDG skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching +GARD:9838 ALG1-CDG skos:narrowMatch OMIM:608540 semapv:UnspecifiedMatching +GARD:9839 ALG9-CDG skos:exactMatch Orphanet:79328 semapv:UnspecifiedMatching +GARD:9839 ALG9-CDG skos:narrowMatch OMIM:263210 semapv:UnspecifiedMatching +GARD:9839 ALG9-CDG skos:narrowMatch OMIM:608776 semapv:UnspecifiedMatching +GARD:984 Brachydactyly type A7 skos:exactMatch Orphanet:93397 semapv:UnspecifiedMatching +GARD:9841 B4GALT1-CDG skos:exactMatch Orphanet:79332 semapv:UnspecifiedMatching +GARD:9841 B4GALT1-CDG skos:narrowMatch OMIM:607091 semapv:UnspecifiedMatching +GARD:9842 COG7-CDG skos:exactMatch Orphanet:79333 semapv:UnspecifiedMatching +GARD:9842 COG7-CDG skos:narrowMatch OMIM:608779 semapv:UnspecifiedMatching +GARD:9843 Primary familial polycythemia skos:exactMatch Orphanet:90042 semapv:UnspecifiedMatching +GARD:9843 Primary familial polycythemia skos:narrowMatch OMIM:133100 semapv:UnspecifiedMatching +GARD:9844 Microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch Orphanet:2637 semapv:UnspecifiedMatching +GARD:9844 Microcephalic osteodysplastic primordial dwarfism type II skos:narrowMatch OMIM:210720 semapv:UnspecifiedMatching +GARD:9846 Heart-hand syndrome, Slovenian type skos:exactMatch Orphanet:168796 semapv:UnspecifiedMatching +GARD:9846 Heart-hand syndrome, Slovenian type skos:narrowMatch OMIM:610140 semapv:UnspecifiedMatching +GARD:9847 Heart-hand syndrome type 2 skos:exactMatch Orphanet:1350 semapv:UnspecifiedMatching +GARD:9848 Congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch Orphanet:71278 semapv:UnspecifiedMatching +GARD:9848 Congenital brain dysgenesis due to glutamine synthetase deficiency skos:narrowMatch OMIM:610015 semapv:UnspecifiedMatching +GARD:9849 Goldberg-Shprintzen megacolon syndrome skos:exactMatch Orphanet:66629 semapv:UnspecifiedMatching +GARD:9849 Goldberg-Shprintzen megacolon syndrome skos:narrowMatch OMIM:609460 semapv:UnspecifiedMatching +GARD:985 Brachydactyly type B skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching +GARD:985 Brachydactyly type B skos:narrowMatch OMIM:113000 semapv:UnspecifiedMatching +GARD:985 Brachydactyly type B skos:narrowMatch OMIM:611377 semapv:UnspecifiedMatching +GARD:9850 Omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch Orphanet:3164 semapv:UnspecifiedMatching +GARD:9850 Omphalocele syndrome, Shprintzen-Goldberg type skos:narrowMatch OMIM:182210 semapv:UnspecifiedMatching +GARD:986 Brachydactyly type C skos:exactMatch Orphanet:93384 semapv:UnspecifiedMatching +GARD:986 Brachydactyly type C skos:narrowMatch OMIM:113100 semapv:UnspecifiedMatching +GARD:9863 Synostoses, tarsal, carpal, and digital skos:broadMatch Orphanet:1412 semapv:UnspecifiedMatching +GARD:9863 Synostoses, tarsal, carpal, and digital skos:exactMatch OMIM:186400 semapv:UnspecifiedMatching +GARD:9866 Spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 semapv:UnspecifiedMatching +GARD:9866 Spondyloepimetaphyseal dysplasia with multiple dislocations skos:narrowMatch OMIM:603546 semapv:UnspecifiedMatching +GARD:9867 Spinocerebellar ataxia type 14 skos:exactMatch Orphanet:98763 semapv:UnspecifiedMatching +GARD:9867 Spinocerebellar ataxia type 14 skos:narrowMatch OMIM:605361 semapv:UnspecifiedMatching +GARD:987 Brachydactyly type E skos:exactMatch Orphanet:93387 semapv:UnspecifiedMatching +GARD:987 Brachydactyly type E skos:narrowMatch OMIM:113300 semapv:UnspecifiedMatching +GARD:987 Brachydactyly type E skos:narrowMatch OMIM:613382 semapv:UnspecifiedMatching +GARD:9870 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:71212 semapv:UnspecifiedMatching +GARD:9870 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:231530 semapv:UnspecifiedMatching +GARD:9870 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:609975 semapv:UnspecifiedMatching +GARD:9873 Lateral meningocele syndrome skos:exactMatch Orphanet:2789 semapv:UnspecifiedMatching +GARD:9873 Lateral meningocele syndrome skos:narrowMatch OMIM:130720 semapv:UnspecifiedMatching +GARD:9874 Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +GARD:9874 Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +GARD:9874 Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia skos:exactMatch OMIM:608030 semapv:UnspecifiedMatching +GARD:9876 Aortic aneurysm, familial thoracic 4 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +GARD:9876 Aortic aneurysm, familial thoracic 4 skos:exactMatch OMIM:132900 semapv:UnspecifiedMatching +GARD:9879 Fibular aplasia-complex brachydactyly syndrome skos:exactMatch Orphanet:2639 semapv:UnspecifiedMatching +GARD:9879 Fibular aplasia-complex brachydactyly syndrome skos:narrowMatch OMIM:228900 semapv:UnspecifiedMatching +GARD:9882 Hyperandrogenism due to cortisone reductase deficiency skos:exactMatch Orphanet:168588 semapv:UnspecifiedMatching +GARD:9882 Hyperandrogenism due to cortisone reductase deficiency skos:narrowMatch OMIM:604931 semapv:UnspecifiedMatching +GARD:9882 Hyperandrogenism due to cortisone reductase deficiency skos:narrowMatch OMIM:614662 semapv:UnspecifiedMatching +GARD:9884 Juvenile myelomonocytic leukemia skos:exactMatch Orphanet:86834 semapv:UnspecifiedMatching +GARD:9884 Juvenile myelomonocytic leukemia skos:narrowMatch OMIM:607785 semapv:UnspecifiedMatching +GARD:9885 Noonan syndrome 3 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +GARD:9885 Noonan syndrome 3 skos:exactMatch OMIM:609942 semapv:UnspecifiedMatching +GARD:9886 Ichthyosis-prematurity syndrome skos:exactMatch Orphanet:88621 semapv:UnspecifiedMatching +GARD:9886 Ichthyosis-prematurity syndrome skos:narrowMatch OMIM:608649 semapv:UnspecifiedMatching +GARD:9887 Benign concentric annular macular dystrophy skos:exactMatch Orphanet:251287 semapv:UnspecifiedMatching +GARD:9887 Benign concentric annular macular dystrophy skos:narrowMatch OMIM:153870 semapv:UnspecifiedMatching +GARD:9888 Pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 semapv:UnspecifiedMatching +GARD:9888 Pyruvate dehydrogenase phosphatase deficiency skos:narrowMatch OMIM:608782 semapv:UnspecifiedMatching +GARD:9890 Autosomal dominant optic atrophy, classic form skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching +GARD:9890 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:165500 semapv:UnspecifiedMatching +GARD:9890 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:605293 semapv:UnspecifiedMatching +GARD:9890 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:610708 semapv:UnspecifiedMatching +GARD:9890 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:618977 semapv:UnspecifiedMatching +GARD:9892 Cataract 18 skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +GARD:9892 Cataract 18 skos:exactMatch OMIM:610019 semapv:UnspecifiedMatching +GARD:9895 Myasthenic syndrome, congenital, 2a, slow-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +GARD:9895 Myasthenic syndrome, congenital, 2a, slow-channel skos:exactMatch OMIM:616313 semapv:UnspecifiedMatching +GARD:9898 Posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:88628 semapv:UnspecifiedMatching +GARD:9898 Posterior column ataxia-retinitis pigmentosa syndrome skos:narrowMatch OMIM:609033 semapv:UnspecifiedMatching +GARD:990 Brachydactyly type A4 skos:exactMatch Orphanet:93394 semapv:UnspecifiedMatching +GARD:990 Brachydactyly type A4 skos:narrowMatch OMIM:112800 semapv:UnspecifiedMatching +GARD:9900 Congenital pulmonary lymphangiectasia skos:exactMatch Orphanet:2414 semapv:UnspecifiedMatching +GARD:9900 Congenital pulmonary lymphangiectasia skos:narrowMatch OMIM:265300 semapv:UnspecifiedMatching +GARD:9901 Telangiectasia, hereditary hemorrhagic, type 2 skos:broadMatch Orphanet:774 semapv:UnspecifiedMatching +GARD:9901 Telangiectasia, hereditary hemorrhagic, type 2 skos:exactMatch OMIM:600376 semapv:UnspecifiedMatching +GARD:9902 Telangiectasia, hereditary hemorrhagic, type 3 skos:broadMatch Orphanet:774 semapv:UnspecifiedMatching +GARD:9902 Telangiectasia, hereditary hemorrhagic, type 3 skos:exactMatch OMIM:601101 semapv:UnspecifiedMatching +GARD:9903 Polysyndactyly skos:exactMatch Orphanet:93338 semapv:UnspecifiedMatching +GARD:9903 Polysyndactyly skos:narrowMatch OMIM:174700 semapv:UnspecifiedMatching +GARD:9904 Osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch Orphanet:75325 semapv:UnspecifiedMatching +GARD:9904 Osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:narrowMatch OMIM:609993 semapv:UnspecifiedMatching +GARD:9905 Lynch syndrome skos:exactMatch Orphanet:144 semapv:UnspecifiedMatching +GARD:9905 Lynch syndrome skos:narrowMatch OMIM:120435 semapv:UnspecifiedMatching +GARD:9905 Lynch syndrome skos:narrowMatch OMIM:609310 semapv:UnspecifiedMatching +GARD:9905 Lynch syndrome skos:narrowMatch OMIM:613244 semapv:UnspecifiedMatching +GARD:9905 Lynch syndrome skos:narrowMatch OMIM:614331 semapv:UnspecifiedMatching +GARD:9905 Lynch syndrome skos:narrowMatch OMIM:614337 semapv:UnspecifiedMatching +GARD:9905 Lynch syndrome skos:narrowMatch OMIM:614350 semapv:UnspecifiedMatching +GARD:9905 Lynch syndrome skos:narrowMatch OMIM:614385 semapv:UnspecifiedMatching +GARD:9907 Amyopathic dermatomyositis skos:broadMatch Orphanet:221 semapv:UnspecifiedMatching +GARD:9909 Arthrogryposis, distal, type 2b1 skos:broadMatch Orphanet:1147 semapv:UnspecifiedMatching +GARD:9909 Arthrogryposis, distal, type 2b1 skos:exactMatch OMIM:601680 semapv:UnspecifiedMatching +GARD:9910 Lethal acantholytic erosive disorder skos:exactMatch Orphanet:158687 semapv:UnspecifiedMatching +GARD:9910 Lethal acantholytic erosive disorder skos:narrowMatch OMIM:609638 semapv:UnspecifiedMatching +GARD:9911 Fibromatosis, gingival, 3 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +GARD:9911 Fibromatosis, gingival, 3 skos:exactMatch OMIM:609955 semapv:UnspecifiedMatching +GARD:9912 Lennox-Gastaut syndrome skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching +GARD:9912 Lennox-Gastaut syndrome skos:narrowMatch OMIM:615369 semapv:UnspecifiedMatching +GARD:9912 Lennox-Gastaut syndrome skos:narrowMatch OMIM:616346 semapv:UnspecifiedMatching +GARD:9912 Lennox-Gastaut syndrome skos:narrowMatch OMIM:617113 semapv:UnspecifiedMatching +GARD:9912 Lennox-Gastaut syndrome skos:narrowMatch OMIM:618141 semapv:UnspecifiedMatching +GARD:9914 Glomerulopathy with fibronectin deposits 2 skos:broadMatch Orphanet:84090 semapv:UnspecifiedMatching +GARD:9914 Glomerulopathy with fibronectin deposits 2 skos:exactMatch OMIM:601894 semapv:UnspecifiedMatching +GARD:9916 Multiple synostoses syndrome 2 skos:broadMatch Orphanet:3237 semapv:UnspecifiedMatching +GARD:9916 Multiple synostoses syndrome 2 skos:exactMatch OMIM:610017 semapv:UnspecifiedMatching +GARD:9918 Deafness, autosomal recessive 51 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:9918 Deafness, autosomal recessive 51 skos:exactMatch OMIM:609941 semapv:UnspecifiedMatching +GARD:9919 Deafness, autosomal recessive 55 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:9919 Deafness, autosomal recessive 55 skos:exactMatch OMIM:609952 semapv:UnspecifiedMatching +GARD:992 Oculoosteocutaneous syndrome skos:exactMatch Orphanet:2713 semapv:UnspecifiedMatching +GARD:992 Oculoosteocutaneous syndrome skos:narrowMatch OMIM:211370 semapv:UnspecifiedMatching +GARD:9920 Mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching +GARD:9920 Mitochondrial neurogastrointestinal encephalomyopathy skos:narrowMatch OMIM:603041 semapv:UnspecifiedMatching +GARD:9920 Mitochondrial neurogastrointestinal encephalomyopathy skos:narrowMatch OMIM:612075 semapv:UnspecifiedMatching +GARD:9920 Mitochondrial neurogastrointestinal encephalomyopathy skos:narrowMatch OMIM:613662 semapv:UnspecifiedMatching +GARD:9921 Nasu-Hakola disease skos:exactMatch Orphanet:2770 semapv:UnspecifiedMatching +GARD:9921 Nasu-Hakola disease skos:narrowMatch OMIM:221770 semapv:UnspecifiedMatching +GARD:9921 Nasu-Hakola disease skos:narrowMatch OMIM:618193 semapv:UnspecifiedMatching +GARD:9922 Hemophagocytic lymphohistiocytosis, familial, 2 skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +GARD:9922 Hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch OMIM:603553 semapv:UnspecifiedMatching +GARD:9928 Hemophagocytic lymphohistiocytosis, familial, 3 skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +GARD:9928 Hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch OMIM:608898 semapv:UnspecifiedMatching +GARD:9929 Hemophagocytic lymphohistiocytosis, familial, 4 skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +GARD:9929 Hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch OMIM:603552 semapv:UnspecifiedMatching +GARD:9931 Hyperinsulinism-hyperammonemia syndrome skos:exactMatch Orphanet:35878 semapv:UnspecifiedMatching +GARD:9931 Hyperinsulinism-hyperammonemia syndrome skos:narrowMatch OMIM:606762 semapv:UnspecifiedMatching +GARD:9932 Exercise-induced hyperinsulinism skos:exactMatch Orphanet:165991 semapv:UnspecifiedMatching +GARD:9932 Exercise-induced hyperinsulinism skos:narrowMatch OMIM:610021 semapv:UnspecifiedMatching +GARD:9933 Deafness, autosomal dominant 3a skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:9933 Deafness, autosomal dominant 3a skos:exactMatch OMIM:601544 semapv:UnspecifiedMatching +GARD:9934 Deafness, autosomal dominant 53 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +GARD:9934 Deafness, autosomal dominant 53 skos:exactMatch OMIM:609965 semapv:UnspecifiedMatching +GARD:9935 Deafness, autosomal recessive 47 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +GARD:9935 Deafness, autosomal recessive 47 skos:exactMatch OMIM:609946 semapv:UnspecifiedMatching +GARD:9936 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching +GARD:9936 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:narrowMatch OMIM:300291 semapv:UnspecifiedMatching +GARD:9936 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:narrowMatch OMIM:612132 semapv:UnspecifiedMatching +GARD:9937 Myopia 6 skos:broadMatch Orphanet:98619 semapv:UnspecifiedMatching +GARD:9937 Myopia 6 skos:exactMatch OMIM:608908 semapv:UnspecifiedMatching +GARD:994 Spondyloepiphyseal dysplasia, Maroteaux type skos:exactMatch Orphanet:263482 semapv:UnspecifiedMatching +GARD:994 Spondyloepiphyseal dysplasia, Maroteaux type skos:narrowMatch OMIM:184095 semapv:UnspecifiedMatching +GARD:9940 CEDNIK syndrome skos:exactMatch Orphanet:66631 semapv:UnspecifiedMatching +GARD:9940 CEDNIK syndrome skos:narrowMatch OMIM:609528 semapv:UnspecifiedMatching +GARD:9941 Facioscapulohumeral dystrophy skos:exactMatch Orphanet:269 semapv:UnspecifiedMatching +GARD:9941 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:158900 semapv:UnspecifiedMatching +GARD:9941 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:158901 semapv:UnspecifiedMatching +GARD:9941 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:600416 semapv:UnspecifiedMatching +GARD:9943 Amelogenesis imperfecta, type ie skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +GARD:9943 Amelogenesis imperfecta, type ie skos:exactMatch OMIM:301200 semapv:UnspecifiedMatching +GARD:9944 Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +GARD:9944 Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 skos:exactMatch OMIM:301201 semapv:UnspecifiedMatching +GARD:9947 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch Orphanet:137831 semapv:UnspecifiedMatching +GARD:9947 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:narrowMatch OMIM:300486 semapv:UnspecifiedMatching +GARD:995 Brachyolmia type 1, hobaek type skos:broadMatch Orphanet:448242 semapv:UnspecifiedMatching +GARD:995 Brachyolmia type 1, hobaek type skos:exactMatch OMIM:271530 semapv:UnspecifiedMatching +GARD:9950 Spinocerebellar ataxia type 23 skos:exactMatch Orphanet:101108 semapv:UnspecifiedMatching +GARD:9950 Spinocerebellar ataxia type 23 skos:narrowMatch OMIM:610245 semapv:UnspecifiedMatching +GARD:9951 Spinocerebellar ataxia type 28 skos:exactMatch Orphanet:101109 semapv:UnspecifiedMatching +GARD:9951 Spinocerebellar ataxia type 28 skos:narrowMatch OMIM:610246 semapv:UnspecifiedMatching +GARD:9952 Congenital primary aphakia skos:exactMatch Orphanet:83461 semapv:UnspecifiedMatching +GARD:9952 Congenital primary aphakia skos:narrowMatch OMIM:610256 semapv:UnspecifiedMatching +GARD:9953 Oligodendroglioma skos:exactMatch Orphanet:251627 semapv:UnspecifiedMatching +GARD:9953 Oligodendroglioma skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +GARD:9953 Oligodendroglioma skos:narrowMatch OMIM:616568 semapv:UnspecifiedMatching +GARD:9959 West-Nile encephalitis skos:exactMatch Orphanet:83476 semapv:UnspecifiedMatching +GARD:9959 West-Nile encephalitis skos:narrowMatch OMIM:610379 semapv:UnspecifiedMatching +GARD:9963 Spinocerebellar ataxia type 27 skos:exactMatch Orphanet:98764 semapv:UnspecifiedMatching +GARD:9963 Spinocerebellar ataxia type 27 skos:narrowMatch OMIM:609307 semapv:UnspecifiedMatching +GARD:9964 Glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch Orphanet:97234 semapv:UnspecifiedMatching +GARD:9964 Glycogen storage disease due to phosphoglycerate mutase deficiency skos:narrowMatch OMIM:261670 semapv:UnspecifiedMatching +GARD:9965 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch Orphanet:83639 semapv:UnspecifiedMatching +GARD:9965 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:narrowMatch OMIM:610293 semapv:UnspecifiedMatching +GARD:9966 Duane retraction syndrome 2 skos:broadMatch Orphanet:233 semapv:UnspecifiedMatching +GARD:9966 Duane retraction syndrome 2 skos:exactMatch OMIM:604356 semapv:UnspecifiedMatching +GARD:9970 Spinocerebellar ataxia type 4 skos:exactMatch Orphanet:98765 semapv:UnspecifiedMatching +GARD:9970 Spinocerebellar ataxia type 4 skos:narrowMatch OMIM:600223 semapv:UnspecifiedMatching +GARD:9971 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome skos:exactMatch Orphanet:95433 semapv:UnspecifiedMatching +GARD:9971 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome skos:narrowMatch OMIM:271250 semapv:UnspecifiedMatching +GARD:9975 Spinocerebellar ataxia type 31 skos:exactMatch Orphanet:217012 semapv:UnspecifiedMatching +GARD:9975 Spinocerebellar ataxia type 31 skos:narrowMatch OMIM:117210 semapv:UnspecifiedMatching +GARD:9976 Spinocerebellar ataxia type 18 skos:exactMatch Orphanet:98771 semapv:UnspecifiedMatching +GARD:9976 Spinocerebellar ataxia type 18 skos:narrowMatch OMIM:607458 semapv:UnspecifiedMatching +GARD:9977 CAMOS syndrome skos:exactMatch Orphanet:83472 semapv:UnspecifiedMatching +GARD:998 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch Orphanet:1538 semapv:UnspecifiedMatching +GARD:998 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:narrowMatch OMIM:123155 semapv:UnspecifiedMatching +GARD:9980 X-linked spinocerebellar ataxia type 4 skos:exactMatch Orphanet:85292 semapv:UnspecifiedMatching +GARD:9980 X-linked spinocerebellar ataxia type 4 skos:narrowMatch OMIM:301840 semapv:UnspecifiedMatching +GARD:9981 X-linked spinocerebellar ataxia type 3 skos:exactMatch Orphanet:85297 semapv:UnspecifiedMatching +GARD:9981 X-linked spinocerebellar ataxia type 3 skos:narrowMatch OMIM:301790 semapv:UnspecifiedMatching +GARD:9983 Leber congenital amaurosis 5 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +GARD:9983 Leber congenital amaurosis 5 skos:exactMatch OMIM:604537 semapv:UnspecifiedMatching +GARD:9984 X-linked intellectual disability, Miles-Carpenter type skos:exactMatch Orphanet:85283 semapv:UnspecifiedMatching +GARD:9984 X-linked intellectual disability, Miles-Carpenter type skos:narrowMatch OMIM:314580 semapv:UnspecifiedMatching +GARD:9987 Severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch Orphanet:275 semapv:UnspecifiedMatching +GARD:9987 Severe combined immunodeficiency due to DCLRE1C deficiency skos:narrowMatch OMIM:602450 semapv:UnspecifiedMatching +GARD:9989 Mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch Orphanet:90154 semapv:UnspecifiedMatching +GARD:9989 Mandibuloacral dysplasia with type B lipodystrophy skos:narrowMatch OMIM:608612 semapv:UnspecifiedMatching +GARD:9991 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:75496 semapv:UnspecifiedMatching +GARD:9991 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome skos:narrowMatch OMIM:130070 semapv:UnspecifiedMatching +GARD:9991 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome skos:narrowMatch OMIM:615349 semapv:UnspecifiedMatching +GARD:9993 Riboflavin transporter deficiency skos:exactMatch Orphanet:97229 semapv:UnspecifiedMatching +GARD:9993 Riboflavin transporter deficiency skos:narrowMatch OMIM:211500 semapv:UnspecifiedMatching +GARD:9993 Riboflavin transporter deficiency skos:narrowMatch OMIM:211530 semapv:UnspecifiedMatching +GARD:9993 Riboflavin transporter deficiency skos:narrowMatch OMIM:614707 semapv:UnspecifiedMatching +GARD:9994 Clark-Baraitser syndrome skos:exactMatch Orphanet:600731 semapv:UnspecifiedMatching +GARD:9994 Clark-Baraitser syndrome skos:narrowMatch OMIM:617752 semapv:UnspecifiedMatching +GARD:9995 Spinocerebellar ataxia type 26 skos:exactMatch Orphanet:101112 semapv:UnspecifiedMatching +GARD:9995 Spinocerebellar ataxia type 26 skos:narrowMatch OMIM:609306 semapv:UnspecifiedMatching +GARD:9996 Spinocerebellar ataxia type 25 skos:exactMatch Orphanet:101111 semapv:UnspecifiedMatching +GARD:9996 Spinocerebellar ataxia type 25 skos:narrowMatch OMIM:608703 semapv:UnspecifiedMatching +GARD:9997 Spinocerebellar ataxia type 20 skos:exactMatch Orphanet:101110 semapv:UnspecifiedMatching +GARD:9997 Spinocerebellar ataxia type 20 skos:narrowMatch OMIM:608687 semapv:UnspecifiedMatching +GARD:9998 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome skos:exactMatch Orphanet:70595 semapv:UnspecifiedMatching +GARD:9998 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome skos:narrowMatch OMIM:607459 semapv:UnspecifiedMatching +GARD:9999 Spinocerebellar ataxia type 21 skos:exactMatch Orphanet:98773 semapv:UnspecifiedMatching +GARD:9999 Spinocerebellar ataxia type 21 skos:narrowMatch OMIM:607454 semapv:UnspecifiedMatching + diff --git a/src/ontology/reports/mirror_signature-gard.tsv b/src/ontology/reports/mirror_signature-gard.tsv new file mode 100644 index 00000000..1784ddc9 --- /dev/null +++ b/src/ontology/reports/mirror_signature-gard.tsv @@ -0,0 +1,12005 @@ +?term + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +