orphanet.txt

Ensembl_gene_id	Orphanet
ENSG00000000419	DPM1-CDG
ENSG00000000971	Atypical hemolytic-uremic syndrome with H factor anomaly,De novo thrombotic microangiopathy after kidney transplantation,Dense deposit disease,Familial drusen,HELLP syndrome,Immunodeficiency with factor H anomaly,Immunoglobulin-mediated membranoproliferative glomerulonephritis
ENSG00000001084	Gamma-glutamylcysteine synthetase deficiency
ENSG00000001497	Spinal muscular atrophy with respiratory distress type 2,Wilson-Turner syndrome
ENSG00000001626	Congenital bilateral absence of vas deferens,Cystic fibrosis,Hereditary chronic pancreatitis,Idiopathic bronchiectasis,Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000001631	Familial cerebral cavernous malformation
ENSG00000003137	Lethal occipital encephalocele-skeletal dysplasia syndrome
ENSG00000003393	Infantile-onset ascending hereditary spastic paralysis,Juvenile amyotrophic lateral sclerosis,Juvenile primary lateral sclerosis
ENSG00000003400	Autoimmune lymphoproliferative syndrome
ENSG00000004399	Moebius syndrome,Truncus arteriosus
ENSG00000004455	Reticular dysgenesis
ENSG00000004487	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
ENSG00000004838	Primary ciliary dyskinesia
ENSG00000004848	Early infantile epileptic encephalopathy,Infantile epileptic-dyskinetic encephalopathy,Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome,Partington syndrome,West syndrome,X-linked lissencephaly with abnormal genitalia,X-linked non-syndromic intellectual disability,X-linked spasticity-intellectual disability-epilepsy syndrome
ENSG00000004864	Citrullinemia type II,Neonatal intrahepatic cholestasis due to citrin deficiency
ENSG00000004939	Autosomal dominant distal renal tubular acidosis,Dehydrated hereditary stomatocytosis,Distal renal tubular acidosis with anemia,Hereditary cryohydrocytosis with normal stomatin,Hereditary spherocytosis,Southeast Asian ovalocytosis
ENSG00000004961	Microphthalmia with linear skin defects syndrome
ENSG00000005073	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
ENSG00000005102	Isolated Klippel-Feil syndrome
ENSG00000005339	Acute myeloid leukemia with t(8;16)(p11;p13) translocation,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,Rubinstein-Taybi syndrome due to CREBBP mutations
ENSG00000005381	Myeloperoxidase deficiency
ENSG00000005421	Amyotrophic lateral sclerosis
ENSG00000005471	Intrahepatic cholestasis of pregnancy,Low phospholipid associated cholelithiasis,Progressive familial intrahepatic cholestasis type 3
ENSG00000005884	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
ENSG00000005893	Glycogen storage disease due to LAMP-2 deficiency
ENSG00000005961	Autosomal dominant macrothrombocytopenia,Fetal and neonatal alloimmune thrombocytopenia,Glanzmann thrombasthenia
ENSG00000006016	Cold-induced sweating syndrome,Crisponi syndrome
ENSG00000006042	Nanophthalmia
ENSG00000006062	NIK deficiency
ENSG00000006071	Autosomal dominant hyperinsulinism due to SUR1 deficiency,Autosomal recessive hyperinsulinism due to SUR1 deficiency,DEND syndrome,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,MODY,Permanent neonatal diabetes mellitus,Transient neonatal diabetes mellitus
ENSG00000006283	Spinocerebellar ataxia type 42
ENSG00000006468	Ewing sarcoma
ENSG00000006530	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,Total early-onset cataract
ENSG00000006611	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Usher syndrome type 1
ENSG00000006638	Bleeding diathesis due to thromboxane synthesis deficiency
ENSG00000006652	Spinocerebellar ataxia type 18
ENSG00000006695	Isolated cytochrome C oxidase deficiency
ENSG00000006704	Williams syndrome
ENSG00000006744	Combined oxidative phosphorylation defect type 17,Familial prostate cancer
ENSG00000007062	Cone rod dystrophy,Retinal macular dystrophy type 2,Retinitis pigmentosa,Stargardt disease
ENSG00000007168	17p13.3 microduplication syndrome,Lissencephaly due to LIS1 mutation,Miller-Dieker syndrome,Subcortical band heterotopia
ENSG00000007312	Autosomal agammaglobulinemia
ENSG00000007314	Acetazolamide-responsive myotonia,Hyperkalemic periodic paralysis,Hypokalemic periodic paralysis,Myotonia fluctuans,Myotonia permanens,Paramyotonia congenita of Von Eulenburg,Postsynaptic congenital myasthenic syndromes
ENSG00000007372	Aniridia-cerebellar ataxia-intellectual disability syndrome,Autosomal dominant keratitis,Coloboma of choroid and retina,Coloboma of eye lens,Coloboma of eyelid,Coloboma of iris,Coloboma of macula,Coloboma of optic papilla,Foveal hypoplasia-presenile cataract syndrome,Isolated aniridia,Isolated optic nerve hypoplasia,Morning glory syndrome,Peters anomaly,WAGR syndrome
ENSG00000007541	Early infantile epileptic encephalopathy
ENSG00000007933	Severe primary trimethylaminuria
ENSG00000008056	X-linked epilepsy-learning disabilities-behavior disorders syndrome
ENSG00000008086	Atypical Rett syndrome,Early infantile epileptic encephalopathy,West syndrome
ENSG00000008196	Char syndrome,Familial patent arterial duct
ENSG00000008226	Squamous cell carcinoma of esophagus
ENSG00000008311	Hyperlysinemia,Saccharopinuria
ENSG00000008441	Malan overgrowth syndrome,Marshall-Smith syndrome
ENSG00000008710	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
ENSG00000008988	Familial colorectal cancer Type X
ENSG00000009413	Moebius syndrome
ENSG00000009709	Alveolar rhabdomyosarcoma
ENSG00000009724	Immunodeficiency due to MASP-2 deficiency
ENSG00000009765	Familial thyroid dyshormonogenesis
ENSG00000009830	Autosomal recessive limb-girdle muscular dystrophy type 2N,Congenital muscular dystrophy with cerebellar involvement,Congenital muscular dystrophy with intellectual disability,Muscle-eye-brain disease,Walker-Warburg syndrome
ENSG00000009954	Williams syndrome
ENSG00000010072	Progeroid features-hepatocellular carcinoma predisposition syndrome
ENSG00000010361	Arnold-Chiari malformation type II,Caudal regression sequence,Cervical spina bifida aperta,Cervical spina bifida cystica,Cervicothoracic spina bifida aperta,Cervicothoracic spina bifida cystica,Lumbosacral spina bifida aperta,Lumbosacral spina bifida cystica,Thoracolumbosacral spina bifida aperta,Thoracolumbosacral spina bifida cystica,Total spina bifida aperta,Total spina bifida cystica,Upper thoracic spina bifida aperta,Upper thoracic spina bifida cystica
ENSG00000010404	Mucopolysaccharidosis type 2, attenuated form,Mucopolysaccharidosis type 2, severe form
ENSG00000010671	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,X-linked agammaglobulinemia
ENSG00000010704	Familial porphyria cutanea tarda,Sporadic porphyria cutanea tarda,Symptomatic form of hemochromatosis type 1
ENSG00000011143	Bardet-Biedl syndrome,Joubert syndrome,Joubert syndrome with ocular defect,Meckel syndrome
ENSG00000011198	Dorfman-Chanarin disease
ENSG00000011201	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000011275	Cerebellar ataxia-hypogonadism syndrome
ENSG00000011295	Isolated CoQ-cytochrome C reductase deficiency
ENSG00000011376	Perrault syndrome
ENSG00000011426	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000011465	Congenital stromal corneal dystrophy
ENSG00000011600	Nasu-Hakola disease
ENSG00000011677	Thyrotoxic periodic paralysis
ENSG00000012048	Familial pancreatic carcinoma,Familial prostate cancer,Hereditary breast and ovarian cancer syndrome,Hereditary breast cancer,Hereditary site-specific ovarian cancer syndrome,Primary peritoneal carcinoma
ENSG00000012061	Cockayne syndrome type 2,COFS syndrome
ENSG00000012174	BRESEK syndrome,Ichthyosis follicularis-alopecia-photophobia syndrome,Keratosis follicularis spinulosa decalvans,Mutilating palmoplantar keratoderma with periorificial keratotic plaques
ENSG00000012504	Intrahepatic cholestasis of pregnancy,Progressive familial intrahepatic cholestasis type 2
ENSG00000012660	Spinocerebellar ataxia type 38
ENSG00000013293	Retinitis pigmentosa
ENSG00000013375	PGM3-CDG
ENSG00000013503	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
ENSG00000013573	Warsaw breakage syndrome
ENSG00000013619	Familial hypospadias,X-linked myotubular myopathy-abnormal genitalia syndrome
ENSG00000013810	Giant cell glioblastoma,Gliosarcoma
ENSG00000014919	Fatal infantile cytochrome C oxidase deficiency,Leigh syndrome with leukodystrophy
ENSG00000015133	Congenital non-communicating hydrocephalus,Spinocerebellar ataxia type 40
ENSG00000015171	Intellectual disability-expressive aphasia-facial dysmorphism syndrome
ENSG00000015285	Wiskott-Aldrich syndrome,X-linked severe congenital neutropenia,X-linked thrombocytopenia with normal platelets
ENSG00000015479	Amyotrophic lateral sclerosis,Distal myopathy with vocal cord weakness
ENSG00000015532	Spondylo-ocular syndrome
ENSG00000016082	Bladder exstrophy
ENSG00000016602	Cystic fibrosis
ENSG00000017260	Familial benign chronic pemphigus
ENSG00000017427	Growth delay due to insulin-like growth factor type 1 deficiency
ENSG00000018236	Congenital lethal myopathy, Compton-North type
ENSG00000018280	Tuberculosis
ENSG00000018408	Epithelioid hemangioendothelioma
ENSG00000018510	Rhizomelic chondrodysplasia punctata type 3
ENSG00000018625	Alternating hemiplegia of childhood,Familial or sporadic hemiplegic migraine
ENSG00000019186	Autosomal recessive infantile hypercalcemia
ENSG00000019549	Piebaldism,Waardenburg syndrome type 2
ENSG00000019991	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000020922	Ataxia-telangiectasia-like disorder,Hereditary breast and ovarian cancer syndrome
ENSG00000021488	Cystinuria type B
ENSG00000021574	Autosomal dominant spastic paraplegia type 4
ENSG00000021826	Carbamoyl-phosphate synthetase 1 deficiency
ENSG00000021852	Immunodeficiency due to a late component of complement deficiency
ENSG00000022267	Reducing body myopathy,X-linked Emery-Dreifuss muscular dystrophy,X-linked myopathy with postural muscle atrophy,X-linked scapuloperoneal muscular dystrophy
ENSG00000022355	Childhood absence epilepsy,Dravet syndrome,Juvenile myoclonic epilepsy
ENSG00000023228	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000023445	MALT lymphoma
ENSG00000023839	Dubin-Johnson syndrome
ENSG00000025708	Mitochondrial neurogastrointestinal encephalomyopathy
ENSG00000025796	Isolated polycystic liver disease
ENSG00000026025	Pulverulent cataract
ENSG00000026103	Autoimmune lymphoproliferative syndrome,Autoimmune lymphoproliferative syndrome,Beh�et disease,Oligoarticular juvenile idiopathic arthritis,Rheumatoid factor-negative juvenile idiopathic arthritis,Vogt-Koyanagi-Harada disease
ENSG00000026297	Cystic leukoencephalopathy without megalencephaly
ENSG00000027697	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
ENSG00000027847	Ehlers-Danlos syndrome, progeroid type,Reunion Island Larsen syndrome
ENSG00000028137	Classic mycosis fungoides,S�zary syndrome
ENSG00000029534	8p11.2 deletion syndrome,Hereditary spherocytosis
ENSG00000029639	Mitochondrial non-syndromic sensorineural deafness
ENSG00000030304	Fetal akinesia deformation sequence,Postsynaptic congenital myasthenic syndromes
ENSG00000030582	Behavioral variant of frontotemporal dementia,CLN11 disease,Progressive non-fluent aphasia,Semantic dementia
ENSG00000031081	Adams-Oliver syndrome
ENSG00000032444	Ataxia-hypogonadism-choroidal dystrophy syndrome,Autosomal recessive spastic paraplegia type 39,Cerebellar ataxia-hypogonadism syndrome,Laurence-Moon syndrome,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ENSG00000033011	ALG1-CDG
ENSG00000034693	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000034971	Congenital glaucoma,Juvenile glaucoma
ENSG00000035403	Familial isolated dilated cardiomyopathy
ENSG00000036257	Pseudohypoaldosteronism type 2E
ENSG00000036473	Ornithine transcarbamylase deficiency
ENSG00000036828	Autosomal dominant hypocalcemia,Bartter syndrome with hypocalcemia,Familial hypocalciuric hypercalcemia type 1,Neonatal severe primary hyperparathyroidism
ENSG00000037280	Milroy disease
ENSG00000037474	Autosomal recessive non-syndromic intellectual disability,Dubowitz syndrome
ENSG00000038002	Aspartylglucosaminuria
ENSG00000038295	Atrial septal defect, ostium primum type,Atrial septal defect, ostium secundum type
ENSG00000038382	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
ENSG00000038427	Wagner disease
ENSG00000038945	Familial prostate cancer
ENSG00000039068	Cleft lip/palate,Hereditary diffuse gastric cancer
ENSG00000039139	Primary ciliary dyskinesia
ENSG00000039537	Immunodeficiency due to a late component of complement deficiency
ENSG00000039650	Ataxia-oculomotor apraxia type 4,Early infantile epileptic encephalopathy
ENSG00000040531	Juvenile nephropathic cystinosis,Nephropathic infantile cystinosis,Ocular cystinosis
ENSG00000041982	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000042088	Spinocerebellar ataxia type 1 with axonal neuropathy
ENSG00000042317	Leber congenital amaurosis,Retinitis pigmentosa,Severe early-childhood-onset retinal dystrophy
ENSG00000042429	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
ENSG00000042753	Familial hypocalciuric hypercalcemia type 3
ENSG00000042781	Retinitis pigmentosa,Usher syndrome type 2
ENSG00000042832	Familial thyroid dyshormonogenesis
ENSG00000043355	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000044090	3M syndrome
ENSG00000044115	Butterfly-shaped pigment dystrophy,Hereditary diffuse gastric cancer
ENSG00000044446	Glycogen storage disease due to liver phosphorylase kinase deficiency
ENSG00000046604	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form,Familial isolated dilated cardiomyopathy
ENSG00000046651	Joubert syndrome with orofaciodigital defect,Orofaciodigital syndrome type 1,Primary ciliary dyskinesia,Retinitis pigmentosa,Simpson-Golabi-Behmel syndrome type 2
ENSG00000047410	Differentiated thyroid carcinoma
ENSG00000047457	Aceruloplasminemia
ENSG00000047578	Joubert syndrome
ENSG00000047579	Hermansky-Pudlak syndrome type 7
ENSG00000047597	McLeod neuroacanthocytosis syndrome
ENSG00000048342	Joubert syndrome with hepatic defect,Joubert syndrome with oculorenal defect,Meckel syndrome
ENSG00000048392	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,Autosomal dominant progressive external ophthalmoplegia,Kearns-Sayre syndrome,Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy,Mitochondrial neurogastrointestinal encephalomyopathy
ENSG00000048545	Cone rod dystrophy,Progressive cone dystrophy
ENSG00000049089	Autosomal recessive Stickler syndrome,Multiple epiphyseal dysplasia due to collagen 9 anomaly
ENSG00000049130	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Familial progressive hyper- and hypopigmentation,Familial progressive hyperpigmentation,Non-seminomatous germ cell tumor of testis,Waardenburg syndrome type 2
ENSG00000049167	Cockayne syndrome type 1,Cockayne syndrome type 2,Cockayne syndrome type 3,UV-sensitive syndrome
ENSG00000049239	Hyperandrogenism due to cortisone reductase deficiency
ENSG00000049246	Familial advanced sleep-phase syndrome
ENSG00000049540	Autosomal dominant cutis laxa,Supravalvular aortic stenosis,Williams syndrome
ENSG00000049541	Williams syndrome
ENSG00000049618	6q25 microdeletion syndrome,Coffin-Siris syndrome,Intellectual disability-sparse hair-brachydactyly syndrome
ENSG00000049759	Periventricular nodular heterotopia
ENSG00000049768	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
ENSG00000049860	Sandhoff disease, adult form,Sandhoff disease, infantile form,Sandhoff disease, juvenile form
ENSG00000050030	X-linked intellectual disability, Cantagrel type
ENSG00000050555	Occipital pachygyria and polymicrogyria
ENSG00000051180	Familial congenital mirror movements,Fanconi anemia,Hereditary breast and ovarian cancer syndrome
ENSG00000051523	Chronic granulomatous disease
ENSG00000052850	Enlarged parietal foramina,Frontonasal dysplasia with alopecia and genital anomaly,Isolated scaphocephaly,Potocki-Shaffer syndrome
ENSG00000053747	Generalized junctional epidermolysis bullosa, non-Herlitz type,Junctional epidermolysis bullosa, Herlitz type,LOC syndrome
ENSG00000053918	Familial atrial fibrillation,Familial short QT syndrome,Jervell and Lange-Nielsen syndrome,Romano-Ward syndrome
ENSG00000054282	Bardet-Biedl syndrome,Senior-Loken syndrome
ENSG00000054392	Chondrodysplasia-disorder of sex development syndrome
ENSG00000054523	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
ENSG00000054598	Axenfeld anomaly,Axenfeld-Rieger syndrome,Isolated aniridia,Peters anomaly,Rieger anomaly
ENSG00000054654	Autosomal dominant Emery-Dreifuss muscular dystrophy
ENSG00000054983	Adult Krabbe disease,Infantile Krabbe disease,Late-infantile/juvenile Krabbe disease
ENSG00000055118	Familial short QT syndrome,Romano-Ward syndrome
ENSG00000056097	Autosomal recessive spastic paraplegia type 71
ENSG00000056972	Chronic mucocutaneous candidiasis
ENSG00000057294	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
ENSG00000057593	Congenital factor VII deficiency
ENSG00000058085	Generalized junctional epidermolysis bullosa, non-Herlitz type,Junctional epidermolysis bullosa, Herlitz type,Junctional epidermolysis bullosa inversa
ENSG00000059377	Ghosal hematodiaphyseal dysplasia
ENSG00000059573	ALDH18A1-related De Barsy syndrome,Autosomal dominant complex spastic paraplegia type 9A,Autosomal dominant complex spastic paraplegia type 9B,Autosomal dominant cutis laxa,Autosomal recessive complex spastic paraplegia type 9B
ENSG00000059804	Huntington disease
ENSG00000060069	Congenital cataracts-facial dysmorphism-neuropathy syndrome
ENSG00000060237	Hereditary sensory and autonomic neuropathy type 2,Pseudohypoaldosteronism type 2C
ENSG00000060566	Hyperlipoproteinemia type 5
ENSG00000060642	Hyperphosphatasia-intellectual disability syndrome
ENSG00000060718	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,Autosomal recessive Stickler syndrome,Fibrochondrogenesis,Marshall syndrome,Stickler syndrome type 2
ENSG00000060762	Mitochondrial pyruvate carrier deficiency
ENSG00000061455	Familial patent arterial duct
ENSG00000061938	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
ENSG00000062038	EEM syndrome,Hypotrichosis with juvenile macular degeneration
ENSG00000062598	Primary intraosseous venous malformation
ENSG00000062822	Mandibular hypoplasia-deafness-progeroid syndrome,Polymerase proofreading-related adenomatous polyposis
ENSG00000063660	Biliary atresia
ENSG00000064012	Autoimmune lymphoproliferative syndrome with recurrent viral infections
ENSG00000064195	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,Tricho-dento-osseous syndrome
ENSG00000064309	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Pituitary stalk interruption syndrome,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000064313	Microcephaly-thin corpus callosum-intellectual disability syndrome
ENSG00000064419	Autosomal dominant limb-girdle muscular dystrophy type 1F,Primary biliary cholangitis
ENSG00000064490	Immunodeficiency by defective expression of HLA class 2
ENSG00000064601	Galactosialidosis
ENSG00000064835	Combined pituitary hormone deficiencies, genetic forms,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Isolated growth hormone deficiency type II
ENSG00000064933	Lynch syndrome
ENSG00000065057	NTHL1-related attenuated familial adenomatous polyposis
ENSG00000065135	Auriculocondylar syndrome
ENSG00000065154	Gyrate atrophy of choroid and retina
ENSG00000065361	Lethal congenital contracture syndrome type 2
ENSG00000065427	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000065534	Familial thoracic aortic aneurysm and aortic dissection
ENSG00000065618	Epithelial recurrent erosion dystrophy,Generalized junctional epidermolysis bullosa, non-Herlitz type,Late-onset junctional epidermolysis bullosa,Localized junctional epidermolysis bullosa, non-Herlitz type
ENSG00000066230	Congenital sodium diarrhea
ENSG00000066279	Autosomal recessive primary microcephaly
ENSG00000066427	Machado-Joseph disease type 1,Machado-Joseph disease type 2,Machado-Joseph disease type 3
ENSG00000066455	Differentiated thyroid carcinoma
ENSG00000066468	Antley-Bixler syndrome,Apert syndrome,Crouzon disease,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,Familial scaphocephaly syndrome, McGillivray type,FGFR2-related bent bone dysplasia,Jackson-Weiss syndrome,Lacrimoauriculodentodigital syndrome,Pfeiffer syndrome type 1,Pfeiffer syndrome type 2,Pfeiffer syndrome type 3,Saethre-Chotzen syndrome
ENSG00000066629	Subcortical band heterotopia
ENSG00000066926	Autosomal erythropoietic protoporphyria
ENSG00000066933	Presynaptic congenital myasthenic syndromes
ENSG00000067048	Partial chromosome Y deletion
ENSG00000067177	Glycogen storage disease due to muscle phosphorylase kinase deficiency
ENSG00000067182	Intermittent hydrarthrosis,Tumor necrosis factor receptor 1 associated periodic syndrome
ENSG00000067704	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
ENSG00000067836	Amelo-cerebro-hypohidrotic syndrome
ENSG00000067842	X-linked non progressive cerebellar ataxia
ENSG00000067955	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
ENSG00000067992	X-linked Charcot-Marie-Tooth disease type 6
ENSG00000068024	2q37 microdeletion syndrome
ENSG00000068078	Achondroplasia,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Giant cell glioblastoma,Gliosarcoma,Hypochondroplasia,Isolated brachycephaly,Isolated plagiocephaly,Lacrimoauriculodentodigital syndrome,Muenke syndrome,Saethre-Chotzen syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia type 1,Thanatophoric dysplasia type 2
ENSG00000068120	COASY protein-associated neurodegeneration
ENSG00000068323	Alveolar soft-tissue sarcoma,Epithelioid hemangioendothelioma,MiT family translocation renal cell carcinoma
ENSG00000068366	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,X-linked non-syndromic intellectual disability
ENSG00000068438	X-linked non-syndromic intellectual disability
ENSG00000068615	Autosomal dominant spastic paraplegia type 31,Distal hereditary motor neuropathy type 5
ENSG00000068650	Idiopathic pulmonary fibrosis
ENSG00000068654	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
ENSG00000068724	Combined immunodeficiency-enteropathy spectrum,Multiple intestinal atresia
ENSG00000068831	Bleeding disorder due to CalDAG-GEFI deficiency
ENSG00000068885	Jeune syndrome,Short rib-polydactyly syndrome, Verma-Naumoff type
ENSG00000068976	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
ENSG00000069011	Brachydactyly-elbow wrist dysplasia syndrome,Familial clubfoot due to 5q31 microdeletion,Familial clubfoot due to PITX1 point mutation
ENSG00000069329	Hereditary late-onset Parkinson disease
ENSG00000069424	1p36 deletion syndrome
ENSG00000069431	Acromegaloid facial appearance syndrome,Familial atrial fibrillation,Familial isolated dilated cardiomyopathy,Hypertrichosis-acromegaloid facial appearance syndrome,Hypertrichotic osteochondrodysplasia, Cantu type
ENSG00000069702	Familial cerebral saccular aneurysm
ENSG00000069974	Griscelli disease type 2
ENSG00000070010	22q11.2 deletion syndrome
ENSG00000070018	Oligodontia
ENSG00000070019	Chronic diarrhea due to guanylate cyclase 2C overactivity,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
ENSG00000070061	Familial dysautonomia
ENSG00000070159	Cholangiocarcinoma
ENSG00000070182	Hereditary elliptocytosis,Hereditary spherocytosis
ENSG00000070193	Aplasia of lacrimal and salivary glands,Lacrimoauriculodentodigital syndrome
ENSG00000070371	Congenital insensitivity to pain with severe intellectual disability
ENSG00000070610	Autosomal recessive cerebellar ataxia with late-onset spasticity,Autosomal recessive spastic paraplegia type 46
ENSG00000070614	Autosomal recessive non-syndromic intellectual disability
ENSG00000070669	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
ENSG00000070729	Retinitis pigmentosa
ENSG00000070748	Presynaptic congenital myasthenic syndromes
ENSG00000070785	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000070814	Treacher-Collins syndrome
ENSG00000070915	Gitelman syndrome
ENSG00000071564	Autosomal agammaglobulinemia,Precursor B-cell acute lymphoblastic leukemia
ENSG00000072042	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
ENSG00000072062	Fibrolamellar hepatocellular carcinoma,Primary pigmented nodular adrenocortical disease
ENSG00000072110	Autosomal dominant macrothrombocytopenia
ENSG00000072121	Autosomal recessive spastic paraplegia type 15
ENSG00000072163	Autosomal recessive limb-girdle muscular dystrophy type 2W
ENSG00000072195	Autosomal recessive centronuclear myopathy
ENSG00000072210	Sj�gren-Larsson syndrome
ENSG00000072274	TFRC-related combined immunodeficiency
ENSG00000072364	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
ENSG00000072501	Cornelia de Lange syndrome,Wiedemann-Steiner syndrome
ENSG00000072506	HSD10 disease, atypical type,HSD10 disease, infantile type,HSD10 disease, neonatal type
ENSG00000072756	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
ENSG00000072778	Very long chain acyl-CoA dehydrogenase deficiency
ENSG00000072840	Acrofacial dysostosis, Weyers type,Ellis Van Creveld syndrome
ENSG00000072864	Hydranencephaly,Microlissencephaly,NDE1-related microhydranencephaly
ENSG00000073111	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000073282	ADULT syndrome,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,Bladder exstrophy,Cleft lip and alveolus,Cleft lip/palate,EEC syndrome,Isolated cleft lip,Limb-mammary syndrome,Split hand-split foot malformation
ENSG00000073464	X-linked non-syndromic intellectual disability
ENSG00000073578	Familial isolated dilated cardiomyopathy,Gastrointestinal stromal tumor,Hereditary pheochromocytoma-paraganglioma,Isolated succinate-CoQ reductase deficiency,Leigh syndrome with leukodystrophy
ENSG00000073584	Coffin-Siris syndrome,Familial multiple meningioma
ENSG00000073734	Benign recurrent intrahepatic cholestasis type 2,Intrahepatic cholestasis of pregnancy,Progressive familial intrahepatic cholestasis type 2
ENSG00000073921	Precursor T-cell acute lymphoblastic leukemia
ENSG00000074047	Alobar holoprosencephaly,Combined pituitary hormone deficiencies, genetic forms,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000074181	CADASIL,Infantile myofibromatosis,Lateral meningocele syndrome
ENSG00000074582	Bj�rnstad syndrome,GRACILE syndrome,Isolated CoQ-cytochrome C reductase deficiency,Renal tubulopathy-encephalopathy-liver failure syndrome
ENSG00000074621	Congenital stationary night blindness
ENSG00000074695	Combined deficiency of factor V and factor VIII
ENSG00000074803	Antenatal Bartter syndrome
ENSG00000075043	Benign familial infantile epilepsy,Benign familial neonatal epilepsy,Benign familial neonatal-infantile seizures,KCNQ2-related epileptic encephalopathy
ENSG00000075213	Kallmann syndrome
ENSG00000075223	Hirschsprung disease
ENSG00000075239	Beta-ketothiolase deficiency
ENSG00000075415	Cardiomyopathy-hypotonia-lactic acidosis syndrome
ENSG00000075624	Baraitser-Winter cerebrofrontofacial syndrome,Developmental malformations-deafness-dystonia syndrome
ENSG00000075643	Xanthinuria type II
ENSG00000075702	Autosomal recessive primary microcephaly
ENSG00000075785	Autosomal dominant Charcot-Marie-Tooth disease type 2B
ENSG00000075891	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Renal coloboma syndrome,Renal hypoplasia, bilateral
ENSG00000076242	Constitutional mismatch repair deficiency syndrome,Lynch syndrome,Muir-Torre syndrome
ENSG00000076248	Hyper-IgM syndrome type 5
ENSG00000076351	Hereditary folate malabsorption
ENSG00000076685	Autosomal recessive spastic paraplegia type 45
ENSG00000076716	Simpson-Golabi-Behmel syndrome
ENSG00000076944	Familial hemophagocytic lymphohistiocytosis
ENSG00000077092	Matthew-Wood syndrome
ENSG00000077150	Common variable immunodeficiency,Deficiency in anterior pituitary function-variable immunodeficiency syndrome
ENSG00000077152	Fanconi anemia
ENSG00000077264	X-linked non-syndromic intellectual disability
ENSG00000077279	Lissencephaly type 1 due to doublecortin gene mutation,Subcortical band heterotopia
ENSG00000077498	Minimal pigment oculocutaneous albinism type 1,Ocular albinism with congenital sensorineural deafness,Oculocutaneous albinism type 1A,Oculocutaneous albinism type 1B,Temperature-sensitive oculocutaneous albinism type 1
ENSG00000077522	Familial isolated dilated cardiomyopathy
ENSG00000077721	X-linked intellectual disability, Nascimento type
ENSG00000077782	Encephalocraniocutaneous lipomatosis,Giant cell glioblastoma,Gliosarcoma,Hartsfield-Bixler-Demyer syndrome,Isolated trigonocephaly,Kallmann syndrome,Myeloid neoplasm associated with FGFR1 rearrangement,Normosmic congenital hypogonadotropic hypogonadism,Oligodontia,Osteoglophonic dwarfism,Pfeiffer syndrome type 1,Pilocytic astrocytoma,Primary hypereosinophilic syndrome,Septo-optic dysplasia spectrum
ENSG00000077942	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,Synpolydactyly type 2
ENSG00000077943	Renal agenesis, bilateral
ENSG00000078070	3-methylcrotonyl-CoA carboxylase deficiency
ENSG00000078401	Auriculocondylar syndrome
ENSG00000078403	Precursor T-cell acute lymphoblastic leukemia
ENSG00000078579	Renal agenesis, bilateral
ENSG00000078674	Differentiated thyroid carcinoma
ENSG00000078747	Syndromic multisystem autoimmune disease due to Itch deficiency
ENSG00000078814	Left ventricular noncompaction
ENSG00000078900	Small cell lung cancer
ENSG00000079102	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
ENSG00000079215	Alternating hemiplegia of childhood,Episodic ataxia type 6
ENSG00000079335	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000079435	LIPE-related familial partial lipodystrophy
ENSG00000079482	X-linked intellectual disability-cerebellar hypoplasia syndrome
ENSG00000079616	Spondyloepimetaphyseal dysplasia with multiple dislocations
ENSG00000079739	PGM1-CDG
ENSG00000079805	Autosomal dominant centronuclear myopathy,Autosomal dominant Charcot-Marie-Tooth disease type 2M,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,Fetal akinesia-cerebral and retinal hemorrhage syndrome
ENSG00000079841	Cone rod dystrophy
ENSG00000080493	Autosomal recessive proximal renal tubular acidosis
ENSG00000080503	Intellectual disability-sparse hair-brachydactyly syndrome
ENSG00000080561	X-linked non-syndromic intellectual disability
ENSG00000080603	Floating-Harbor syndrome
ENSG00000080815	Behavioral variant of frontotemporal dementia,Early-onset autosomal dominant Alzheimer disease,Familial isolated dilated cardiomyopathy,Progressive non-fluent aphasia,Semantic dementia
ENSG00000080819	Hereditary coproporphyria
ENSG00000081014	Severe intellectual disability and progressive spastic paraplegia
ENSG00000081051	Congenital deficiency in alpha-fetoprotein,Hereditary persistence of alpha-fetoprotein
ENSG00000081052	Autosomal dominant Alport syndrome,Autosomal recessive Alport syndrome
ENSG00000081087	Infantile osteopetrosis with neuroaxonal dysplasia
ENSG00000081148	Adult-onset foveomacular vitelliform dystrophy,Retinitis pigmentosa
ENSG00000081189	5q14.3 microdeletion syndrome
ENSG00000081237	T-B+ severe combined immunodeficiency due to CD45 deficiency
ENSG00000081248	Hypokalemic periodic paralysis,Malignant hyperthermia of anesthesia,Periodic paralysis with transient compartment-like syndrome,Thyrotoxic periodic paralysis
ENSG00000081277	Epidermolysis bullosa simplex due to plakophilin deficiency
ENSG00000081307	Undetermined early-onset epileptic encephalopathy
ENSG00000081479	Donnai-Barrow syndrome
ENSG00000081923	Benign recurrent intrahepatic cholestasis type 1,Intrahepatic cholestasis of pregnancy,Progressive familial intrahepatic cholestasis type 1
ENSG00000082458	X-linked non-syndromic intellectual disability
ENSG00000082805	Differentiated thyroid carcinoma,Distal monosomy 12p
ENSG00000083093	Familial pancreatic carcinoma,Fanconi anemia,Hereditary breast and ovarian cancer syndrome,Hereditary breast cancer
ENSG00000083123	Classic maple syrup urine disease,Intermediate maple syrup urine disease,Intermittent maple syrup urine disease,Thiamine-responsive maple syrup urine disease
ENSG00000083168	Acute myeloid leukemia with t(8;16)(p11;p13) translocation,Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
ENSG00000083307	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
ENSG00000083444	Ehlers-Danlos syndrome, kyphoscoliotic type
ENSG00000083720	Succinyl-CoA:3-ketoacid CoA transferase deficiency
ENSG00000083799	Familial cylindromatosis,Familial multiple trichoepithelioma
ENSG00000083937	Amyotrophic lateral sclerosis,Behavioral variant of frontotemporal dementia,Progressive non-fluent aphasia,Semantic dementia
ENSG00000084073	Hutchinson-Gilford progeria syndrome,Mandibuloacral dysplasia with type B lipodystrophy,Restrictive dermopathy
ENSG00000084093	Nephroblastoma
ENSG00000084110	Histidinemia
ENSG00000084674	Homozygous familial hypercholesterolemia
ENSG00000084693	Retinitis pigmentosa
ENSG00000084754	Acute fatty liver of pregnancy,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Mitochondrial trifunctional protein deficiency
ENSG00000084774	CAD-CDG
ENSG00000085063	Primary CD59 deficiency
ENSG00000085224	Alpha-thalassemia-myelodysplastic syndrome,Alpha-thalassemia-X-linked intellectual disability syndrome,Carpenter-Waziri syndrome,Chudley-Lowry-Hoar syndrome,Holmes-Gang syndrome,Juberg-Marsidi syndrome,Smith-Fineman-Myers syndrome
ENSG00000085276	Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2),Myelodysplastic syndrome,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
ENSG00000085382	Neuroblastoma,Spastic paraplegia-severe developmental delay-epilepsy syndrome
ENSG00000085788	Autosomal recessive spastic paraplegia type 54
ENSG00000085840	Ear-patella-short stature syndrome
ENSG00000085998	Autosomal recessive limb-girdle muscular dystrophy type 2O,Congenital muscular dystrophy with cerebellar involvement,Muscle-eye-brain disease,Retinitis pigmentosa,Walker-Warburg syndrome
ENSG00000085999	Hereditary breast cancer
ENSG00000086062	B4GALT1-CDG
ENSG00000086288	Primary ciliary dyskinesia
ENSG00000086300	Autosomal recessive malignant osteopetrosis
ENSG00000086758	X-linked intellectual disability, Turner type
ENSG00000086848	ALG9-CDG
ENSG00000087053	Charcot-Marie-Tooth disease type 4B1
ENSG00000087086	Genetic hyperferritinemia without iron overload,Hereditary hyperferritinemia with congenital cataracts,L-ferritin deficiency,L-ferritin deficiency,Neuroferritinopathy
ENSG00000087116	Ehlers-Danlos syndrome, dermatosparaxis type
ENSG00000087237	Cholesterol-ester transfer protein deficiency
ENSG00000087245	Nodulosis-arthropathy-osteolysis syndrome,Torg-Winchester syndrome
ENSG00000087258	Early infantile epileptic encephalopathy
ENSG00000087266	Cherubism
ENSG00000087299	L-2-hydroxyglutaric aciduria
ENSG00000087460	Cushing syndrome due to macronodular adrenal hyperplasia,McCune-Albright syndrome,Monostotic fibrous dysplasia,Polyostotic fibrous dysplasia,Progressive osseous heteroplasia,Pseudohypoparathyroidism type 1A,Pseudohypoparathyroidism type 1B,Pseudohypoparathyroidism type 1C,Pseudopseudohypoparathyroidism
ENSG00000087470	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
ENSG00000087494	Brachydactyly type E
ENSG00000088035	ALG6-CDG
ENSG00000088038	Precursor T-cell acute lymphoblastic leukemia
ENSG00000088053	Bleeding diathesis due to glycoprotein VI deficiency
ENSG00000088256	Autosomal dominant hypocalcemia,Familial hypocalciuric hypercalcemia type 2,Phakomatosis cesioflammea,Phakomatosis cesiomarmorata,Uveal melanoma
ENSG00000088305	ICF syndrome
ENSG00000088367	Autosomal dominant non-syndromic intellectual disability
ENSG00000088451	Catel-Manzke syndrome
ENSG00000088682	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
ENSG00000088836	Congenital hereditary endothelial dystrophy type II,Corneal dystrophy-perceptive deafness syndrome,Fuchs endothelial corneal dystrophy
ENSG00000088926	Congenital factor XI deficiency
ENSG00000088970	Retinitis pigmentosa
ENSG00000089041	B-cell chronic lymphocytic leukemia
ENSG00000089225	Holt-Oram syndrome
ENSG00000089250	Idiopathic achalasia
ENSG00000089280	Amyotrophic lateral sclerosis,Frontotemporal dementia with motor neuron disease,Juvenile amyotrophic lateral sclerosis,Myxofibrosarcoma,Myxoid/round cell liposarcoma
ENSG00000089289	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
ENSG00000089818	Undetermined early-onset epileptic encephalopathy
ENSG00000090006	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies,Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies,Duchenne muscular dystrophy
ENSG00000090020	Progressive autosomal recessive ataxia-deafness syndrome
ENSG00000090054	Hereditary sensory and autonomic neuropathy type 1
ENSG00000090382	ALys amyloidosis
ENSG00000090402	Congenital sucrase-isomaltase deficiency with minimal starch tolerance,Congenital sucrase-isomaltase deficiency without starch intolerance,Congenital sucrase-isomaltase deficiency without sucrose intolerance,Congenital sucrase-isomaltase deficiency with starch and lactose intolerance,Congenital sucrase-isomaltase deficiency with starch intolerance
ENSG00000090487	Autosomal recessive spastic paraplegia type 21
ENSG00000090530	Rare isolated myopia
ENSG00000090534	Familial thrombocytosis,Hereditary isolated aplastic anemia,Hereditary thrombocytosis with transverse limb defect
ENSG00000090581	Mucolipidosis type III gamma
ENSG00000090674	Mucolipidosis type IV
ENSG00000090776	Craniofrontonasal dysplasia
ENSG00000090861	Autosomal dominant Charcot-Marie-Tooth disease type 2N,Undetermined early-onset epileptic encephalopathy
ENSG00000090932	Autosomal recessive spondylocostal dysostosis
ENSG00000091010	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000091106	Familial cold urticaria,Periodic fever-infantile enterocolitis-autoinflammatory syndrome
ENSG00000091136	Cobblestone lissencephaly without muscular or ocular involvement
ENSG00000091137	Athyreosis,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Pendred syndrome,Thyroid hypoplasia
ENSG00000091138	Congenital chloride diarrhea
ENSG00000091140	Pyruvate dehydrogenase E3 deficiency
ENSG00000091262	Generalized arterial calcification of infancy,Pseudoxanthoma elasticum
ENSG00000091409	Junctional epidermolysis bullosa-pyloric atresia syndrome
ENSG00000091482	X-linked non-syndromic sensorineural deafness type DFN
ENSG00000091483	Fumaric aciduria,Hereditary leiomyomatosis and renal cell cancer,Hereditary pheochromocytoma-paraganglioma
ENSG00000091513	Congenital atransferrinemia
ENSG00000091536	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000091592	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
ENSG00000091622	Cone rod dystrophy
ENSG00000091651	Ear-patella-short stature syndrome
ENSG00000091704	Hereditary chronic pancreatitis
ENSG00000091831	Estrogen resistance syndrome
ENSG00000092054	Classic multiminicore myopathy,Ebstein malformation,Familial isolated dilated cardiomyopathy,Hyaline body myopathy,Laing early-onset distal myopathy,Left ventricular noncompaction,MYH7-related late-onset scapuloperoneal muscular dystrophy
ENSG00000092067	Recurrent infection due to specific granule deficiency
ENSG00000092098	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
ENSG00000092200	Cone rod dystrophy,Leber congenital amaurosis,Meckel syndrome
ENSG00000092295	Acral self-healing collodion baby,Bathing suit ichthyosis,Congenital non-bullous ichthyosiform erythroderma,Lamellar ichthyosis,Self-healing collodion baby
ENSG00000092330	Dyskeratosis congenita,Hoyeraal-Hreidarsson syndrome,Revesz syndrome
ENSG00000092439	Amyotrophic lateral sclerosis-parkinsonism-dementia complex
ENSG00000092529	Autosomal recessive limb-girdle muscular dystrophy type 2A
ENSG00000092607	Pelviscapular dysplasia
ENSG00000092621	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form,Neu-Laxova syndrome
ENSG00000092758	Autosomal recessive Stickler syndrome,Multiple epiphyseal dysplasia due to collagen 9 anomaly
ENSG00000092820	Autosomal recessive non-syndromic intellectual disability
ENSG00000092929	Familial hemophagocytic lymphohistiocytosis
ENSG00000092969	Familial thoracic aortic aneurysm and aortic dissection
ENSG00000093009	Ear-patella-short stature syndrome
ENSG00000093010	22q11.2 deletion syndrome,Cisplatin toxicity,Toxicity or absent response to clozapine
ENSG00000093072	Sneddon syndrome,Vasculitis due to ADA2 deficiency
ENSG00000094631	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
ENSG00000094804	Ear-patella-short stature syndrome
ENSG00000094914	Triple A syndrome
ENSG00000095002	Constitutional mismatch repair deficiency syndrome,Lynch syndrome,Muir-Torre syndrome
ENSG00000095015	46,XY complete gonadal dysgenesis,46,XY partial gonadal dysgenesis
ENSG00000095209	Osteogenesis imperfecta type 4
ENSG00000095380	Spondyloepimetaphyseal dysplasia, Genevi�ve type
ENSG00000095397	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Usher syndrome type 2
ENSG00000095464	Achromatopsia,Progressive cone dystrophy
ENSG00000095485	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
ENSG00000095585	Autosomal agammaglobulinemia
ENSG00000095777	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000095787	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
ENSG00000095970	Amyotrophic lateral sclerosis,Behavioral variant of frontotemporal dementia,Nasu-Hakola disease,Progressive non-fluent aphasia,Semantic dementia
ENSG00000096093	Juvenile absence epilepsy,Juvenile myoclonic epilepsy
ENSG00000096696	Erythrokeratodermia-cardiomyopathy syndrome,Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form,Idiopathic pulmonary fibrosis,Keratosis palmoplantaris striata,Lethal acantholytic epidermolysis bullosa,Severe dermatitis-multiple allergies-metabolic wasting syndrome,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
ENSG00000096968	Budd-Chiari syndrome,Essential thrombocythemia,Familial thrombocytosis,Polycythemia vera,Primary myelofibrosis
ENSG00000096996	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,Primary biliary cholangitis
ENSG00000097007	Chronic myeloid leukemia,Precursor B-cell acute lymphoblastic leukemia,Precursor T-cell acute lymphoblastic leukemia
ENSG00000099246	Micro syndrome
ENSG00000099365	Generalized epilepsy with febrile seizures-plus
ENSG00000099377	Congenital bile acid synthesis defect type 1
ENSG00000099769	Short stature due to primary acid-labile subunit deficiency
ENSG00000099797	Autosomal recessive non-syndromic intellectual disability
ENSG00000099810	Diaphyseal medullary stenosis-bone malignancy syndrome
ENSG00000099889	22q11.2 deletion syndrome
ENSG00000099940	CEDNIK syndrome
ENSG00000099942	Distal 22q11.2 microdeletion syndrome
ENSG00000099949	Giant cell glioblastoma,Gliosarcoma,Neurofibromatosis type 3,Noonan syndrome
ENSG00000099956	Atypical teratoid rhabdoid tumor,Coffin-Siris syndrome,Familial multiple meningioma,Familial rhabdoid tumor,Neurofibromatosis type 3
ENSG00000100014	Autosomal dominant Opitz G/BBB syndrome,Commissural facial cleft,Hypertelorism, Teebi type,Tessier number 4 facial cleft
ENSG00000100024	Beta-ureidopropionase deficiency
ENSG00000100030	Distal 22q11.2 microdeletion syndrome
ENSG00000100031	Gamma-glutamyl transpeptidase deficiency
ENSG00000100033	Hyperprolinemia type 1
ENSG00000100053	Early-onset anterior polar cataract,Early-onset nuclear cataract
ENSG00000100075	D,L-2-hydroxyglutaric aciduria,Presynaptic congenital myasthenic syndromes
ENSG00000100084	22q11.2 deletion syndrome
ENSG00000100099	Hermansky-Pudlak syndrome with pulmonary fibrosis
ENSG00000100106	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000100122	Cataract-microcornea syndrome,Early-onset nuclear cataract,Pulverulent cataract
ENSG00000100146	Kallmann syndrome,Neurologic Waardenburg-Shah syndrome,Waardenburg-Shah syndrome,Waardenburg syndrome type 2
ENSG00000100150	Autosomal dominant epilepsy with auditory features,Autosomal dominant nocturnal frontal lobe epilepsy,Familial focal epilepsy with variable foci
ENSG00000100151	Male infertility due to globozoospermia
ENSG00000100170	Glucose-galactose malabsorption
ENSG00000100197	Antidepressant or antipsychotic toxicity or dose selection,Codeine toxicity,Resistance to tamoxifene
ENSG00000100225	Parkinsonian-pyramidal syndrome
ENSG00000100234	Sorsby's fundus dystrophy
ENSG00000100241	Charcot-Marie-Tooth disease type 4B3
ENSG00000100243	Hereditary methemoglobinemia
ENSG00000100285	Amyotrophic lateral sclerosis
ENSG00000100288	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
ENSG00000100299	Metachromatic leukodystrophy, adult form,Metachromatic leukodystrophy, juvenile form,Metachromatic leukodystrophy, late infantile form
ENSG00000100311	Bilateral striopallidodentate calcinosis,Dermatofibrosarcoma protuberans
ENSG00000100342	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000100345	Autosomal dominant non-syndromic sensorineural deafness type DFNA,MYH9-related disease
ENSG00000100360	Bardet-Biedl syndrome
ENSG00000100365	Chronic granulomatous disease
ENSG00000100368	Hereditary pulmonary alveolar proteinosis
ENSG00000100373	Renal agenesis, unilateral
ENSG00000100379	Myoclonus-dystonia syndrome
ENSG00000100385	Oligoarticular juvenile idiopathic arthritis,Rheumatoid factor-negative juvenile idiopathic arthritis
ENSG00000100393	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
ENSG00000100412	Autosomal recessive isolated optic atrophy,Infantile cerebellar-retinal degeneration
ENSG00000100416	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,Mitochondrial non-syndromic sensorineural deafness,Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
ENSG00000100427	Megalencephalic leukoencephalopathy with subcortical cysts
ENSG00000100473	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000100478	Severe intellectual disability and progressive spastic paraplegia
ENSG00000100485	Noonan syndrome
ENSG00000100503	Microcephalic primordial dwarfism, Dauber type
ENSG00000100504	Glycogen storage disease due to liver glycogen phosphorylase deficiency
ENSG00000100523	Autosomal recessive spastic paraplegia type 28
ENSG00000100578	Joubert syndrome,Joubert syndrome with Jeune asphyxiating thoracic dystrophy
ENSG00000100596	Hereditary sensory and autonomic neuropathy type 1
ENSG00000100697	Familial multinodular goiter,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,Gynandroblastoma,Maligant granulosa cell tumor of ovary,Malignant Sertoli-Leydig cell tumor of ovary,Pleuropulmonary blastoma familial tumor susceptibility syndrome
ENSG00000100714	Cervical spina bifida aperta,Cervical spina bifida cystica,Cervicothoracic spina bifida aperta,Cervicothoracic spina bifida cystica,Lumbosacral spina bifida aperta,Lumbosacral spina bifida cystica,Thoracolumbosacral spina bifida aperta,Thoracolumbosacral spina bifida cystica,Total spina bifida aperta,Total spina bifida cystica,Upper thoracic spina bifida aperta,Upper thoracic spina bifida cystica
ENSG00000100721	Precursor T-cell acute lymphoblastic leukemia
ENSG00000100722	Autosomal recessive non-syndromic intellectual disability
ENSG00000100749	Microcephaly-complex motor and sensory axonal neuropathy syndrome,Pontocerebellar hypoplasia type 1
ENSG00000100815	Achondrogenesis type 1A
ENSG00000100836	Oculopharyngeal muscular dystrophy
ENSG00000100889	Phosphoenolpyruvate carboxykinase deficiency
ENSG00000100906	Giant cell glioblastoma,Gliosarcoma,Hypohidrotic ectodermal dysplasia with immunodeficiency
ENSG00000100934	Craniolenticulosutural dysplasia
ENSG00000100983	Glutathione synthetase deficiency with 5-oxoprolinuria,Glutathione synthetase deficiency without 5-oxoprolinuria
ENSG00000100985	Metaphyseal anadysplasia
ENSG00000100987	Posterior polymorphous corneal dystrophy
ENSG00000100997	Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
ENSG00000101017	Hyper-IgM syndrome type 3
ENSG00000101052	Cranioectodermal dysplasia
ENSG00000101076	Hyperinsulinism due to HNF4A deficiency,MODY,Renal cysts and diabetes syndrome
ENSG00000101109	Combined immunodeficiency due to STK4 deficiency
ENSG00000101115	Acro-renal-ocular syndrome,IVIC syndrome,Okihiro syndrome due to 20q13 microdeletion,Okihiro syndrome due to a point mutation
ENSG00000101126	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
ENSG00000101152	CLN4B disease
ENSG00000101161	Retinitis pigmentosa
ENSG00000101162	Autosomal dominant macrothrombocytopenia
ENSG00000101194	Disseminated superficial actinic porokeratosis
ENSG00000101200	Hereditary central diabetes insipidus
ENSG00000101204	Autosomal dominant nocturnal frontal lobe epilepsy
ENSG00000101210	Autosomal dominant non-syndromic intellectual disability,Undetermined early-onset epileptic encephalopathy
ENSG00000101247	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000101276	Riboflavin transporter deficiency
ENSG00000101282	Anonychia congenita totalis
ENSG00000101292	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism,Septo-optic dysplasia spectrum
ENSG00000101310	Congenital dyserythropoietic anemia type II,Cowden syndrome
ENSG00000101311	Hereditary acrokeratotic poikiloderma, Weary type,Kindler syndrome
ENSG00000101327	Spinocerebellar ataxia type 23
ENSG00000101333	Auriculocondylar syndrome
ENSG00000101346	Dowling-Degos disease
ENSG00000101347	Aicardi-Gouti�res syndrome,Chilblain lupus
ENSG00000101361	Spinocerebellar ataxia type 36
ENSG00000101365	Retinitis pigmentosa
ENSG00000101384	Alagille syndrome due to 20p12 microdeletion,Alagille syndrome due to a JAG1 point mutation,Tetralogy of Fallot
ENSG00000101400	Romano-Ward syndrome
ENSG00000101421	Early-onset posterior polar cataract,Early-onset posterior subcapsular cataract
ENSG00000101439	ACys amyloidosis
ENSG00000101444	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
ENSG00000101577	Majeed syndrome
ENSG00000101596	Facioscapulohumeral dystrophy,Facioscapulohumeral dystrophy
ENSG00000101680	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
ENSG00000101752	Left ventricular noncompaction
ENSG00000101773	Jawad syndrome,Seckel syndrome
ENSG00000101846	Recessive X-linked ichthyosis,Syndromic X-linked ichthyosis
ENSG00000101850	X-linked recessive ocular albinism
ENSG00000101868	X-linked reticulate pigmentary disorder
ENSG00000101871	X-linked Opitz G/BBB syndrome
ENSG00000101901	ALG13-CDG,X-linked non-syndromic intellectual disability
ENSG00000101935	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
ENSG00000101938	Isolated congenital megalocornea
ENSG00000101966	X-linked lymphoproliferative disease
ENSG00000101981	Mild hemophilia B,Moderately severe hemophilia B,Severe hemophilia B,Symptomatic form of hemophilia B in female carriers
ENSG00000101986	Adrenomyeloneuropathy,CADDS,X-linked cerebral adrenoleukodystrophy
ENSG00000101997	3C syndrome
ENSG00000102001	Cone rod dystrophy,Congenital stationary night blindness,�land Islands eye disease
ENSG00000102003	X-linked non-syndromic intellectual disability
ENSG00000102024	X-linked osteoporosis with fractures
ENSG00000102030	Microphthalmia, Lenz type,Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
ENSG00000102034	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
ENSG00000102076	Blue cone monochromatism,Cone rod dystrophy
ENSG00000102081	Fragile X-associated tremor/ataxia syndrome,Fragile X syndrome,Symptomatic form of fragile X syndrome in female carrier,Xq27.3q28 duplication syndrome
ENSG00000102100	SLC35A2-CDG
ENSG00000102103	Hamel cerebro-palato-cardiac syndrome,X-linked intellectual disability, Golabi-Ito-Hall type,X-linked intellectual disability, Porteous type,X-linked intellectual disability, Sutherland-Haan type
ENSG00000102104	X-linked retinoschisis
ENSG00000102119	X-linked Emery-Dreifuss muscular dystrophy
ENSG00000102125	Barth syndrome,Familial isolated dilated cardiomyopathy,Left ventricular noncompaction
ENSG00000102144	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
ENSG00000102145	Acute basophilic leukemia,Acute megakaryoblastic leukemia in Down syndrome,Beta-thalassemia-X-linked thrombocytopenia syndrome,Blackfan-Diamond anemia,Congenital erythropoietic porphyria,Thrombocytopenia with congenital dyserythropoietic anemia,Transient myeloproliferative syndrome,X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
ENSG00000102158	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ENSG00000102172	X-linked intellectual disability, Snyder type
ENSG00000102174	X-linked hypophosphatemia
ENSG00000102218	Retinitis pigmentosa
ENSG00000102245	X-linked hyper-IgM syndrome
ENSG00000102302	Aarskog-Scott syndrome
ENSG00000102312	Focal dermal hypoplasia
ENSG00000102316	Antenatal Bartter syndrome
ENSG00000102359	Bilateral perisylvian polymicrogyria,Rolandic epilepsy,Rolandic epilepsy-speech dyspraxia syndrome
ENSG00000102393	Fabry disease
ENSG00000102452	Digitotalar dysmorphism,Freeman-Sheldon syndrome,Hypotonia-speech impairment-severe cognitive delay syndrome,Sheldon-Hall syndrome
ENSG00000102466	Spinocerebellar ataxia type 27
ENSG00000102575	Spondyloenchondrodysplasia
ENSG00000102580	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
ENSG00000102678	Multiple synostoses syndrome
ENSG00000102683	Autosomal recessive limb-girdle muscular dystrophy type 2C
ENSG00000102743	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
ENSG00000102805	CLN5 disease
ENSG00000102878	Early-onset lamellar cataract,Total early-onset cataract
ENSG00000102879	Severe combined immunodeficiency due to CORO1A deficiency
ENSG00000102893	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
ENSG00000102900	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000102931	Retinitis pigmentosa
ENSG00000102935	Joubert syndrome with oculorenal defect
ENSG00000102967	Postaxial acrofacial dysostosis
ENSG00000102974	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
ENSG00000102977	Familial melanoma,Hereditary isolated aplastic anemia,Hoyeraal-Hreidarsson syndrome
ENSG00000103005	Dyskeratosis congenita,Poikiloderma with neutropenia
ENSG00000103051	COG4-CDG
ENSG00000103089	Autosomal recessive spastic paraplegia type 35,Fatty acid hydroxylase-associated neurodegeneration
ENSG00000103148	Familial focal epilepsy with variable foci
ENSG00000103150	Malonic aciduria
ENSG00000103197	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,Lymphangioleiomyomatosis,Tuberous sclerosis complex
ENSG00000103227	Familial chylomicronemia syndrome
ENSG00000103241	Congenital alveolar capillary dysplasia
ENSG00000103249	Albers-Sch�nberg osteopetrosis,Autosomal recessive malignant osteopetrosis,Intermediate osteopetrosis
ENSG00000103264	Autosomal recessive non-syndromic intellectual disability
ENSG00000103266	Autosomal recessive cerebellar ataxia due to STUB1 deficiency
ENSG00000103313	Beh�et disease,Familial Mediterranean fever,Intermittent hydrarthrosis
ENSG00000103316	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000103335	Dehydrated hereditary stomatocytosis
ENSG00000103356	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
ENSG00000103449	Townes-Brocks syndrome
ENSG00000103489	Desbuquois syndrome,XYLT1-CDG
ENSG00000103494	Joubert syndrome with hepatic defect,Joubert syndrome with renal defect,Meckel syndrome
ENSG00000103507	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
ENSG00000103522	Cryptosporidiosis-chronic cholangitis-liver disease syndrome
ENSG00000103546	Orthostatic intolerance due to NET deficiency
ENSG00000103591	Punctate palmoplantar keratoderma type 1
ENSG00000103657	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
ENSG00000103707	Combined oxidative phosphorylation defect type 15,Leigh syndrome with leukodystrophy
ENSG00000103811	Narcolepsy-cataplexy syndrome
ENSG00000103876	Tyrosinemia type 1
ENSG00000103942	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000103995	Autosomal recessive primary microcephaly,Seckel syndrome
ENSG00000104044	Angelman syndrome due to maternal 15q11q13 deletion,Oculocutaneous albinism type 2,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
ENSG00000104055	Acral peeling skin syndrome
ENSG00000104093	Polyendocrine-polyneuropathy syndrome
ENSG00000104133	Autosomal recessive Charcot Marie Tooth disease type 2X,Autosomal recessive spastic paraplegia type 11,Juvenile amyotrophic lateral sclerosis
ENSG00000104164	Hermansky-Pudlak syndrome type 9
ENSG00000104218	Joubert syndrome,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,Meckel syndrome
ENSG00000104237	Retinitis pigmentosa
ENSG00000104267	Osteopetrosis with renal tubular acidosis
ENSG00000104313	BOR syndrome,Branchio-otic syndrome,Otofaciocervical syndrome
ENSG00000104320	Familial prostate cancer,Hereditary breast and ovarian cancer syndrome,Nijmegen breakage syndrome
ENSG00000104321	Familial episodic pain syndrome with predominantly upper body involvement
ENSG00000104331	Chondrodysplasia with joint dislocations, gPAPP type
ENSG00000104356	Anauxetic dysplasia
ENSG00000104365	Severe combined immunodeficiency due to IKK2 deficiency
ENSG00000104381	Autosomal dominant Charcot-Marie-Tooth disease type 2K,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,Charcot-Marie-Tooth disease type 2H,Charcot-Marie-Tooth disease type 4A
ENSG00000104419	Charcot-Marie-Tooth disease type 4D
ENSG00000104447	Langer-Giedion syndrome,Trichorhinophalangeal syndrome type 1 and 3
ENSG00000104450	Primary ciliary dyskinesia
ENSG00000104687	Hemolytic anemia due to glutathione reductase deficiency
ENSG00000104723	Autosomal recessive non-syndromic intellectual disability
ENSG00000104728	Autosomal dominant slowed nerve conduction velocity
ENSG00000104738	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
ENSG00000104763	Farber disease,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
ENSG00000104774	Alpha-mannosidosis, adult form,Alpha-mannosidosis, infantile form
ENSG00000104783	Dehydrated hereditary stomatocytosis
ENSG00000104812	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
ENSG00000104826	Leydig cell hypoplasia due to LHB deficiency
ENSG00000104833	Hypomyelination with atrophy of basal ganglia and cerebellum,Primary dystonia, DYT4 type
ENSG00000104835	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
ENSG00000104884	COFS syndrome,Trichothiodystrophy,Xeroderma pigmentosum,Xeroderma pigmentosum-Cockayne syndrome complex
ENSG00000104889	Aicardi-Gouti�res syndrome
ENSG00000104899	Persistent M�llerian duct syndrome
ENSG00000104936	Steinert myotonic dystrophy
ENSG00000104973	Autosomal recessive non-syndromic intellectual disability,Charcot-Marie-Tooth disease type 2B2,Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
ENSG00000105048	Amish nemaline myopathy
ENSG00000105146	Male infertility due to large-headed multiflagellar polyploid spermatozoa
ENSG00000105220	Hemolytic anemia due to glucophosphate isomerase deficiency
ENSG00000105221	AKT2-related familial partial lipodystrophy,Hypoinsulinemic hypoglycemia and body hemihypertrophy
ENSG00000105227	Charcot-Marie-Tooth disease type 4F,Dejerine-Sottas syndrome
ENSG00000105329	Camurati-Engelmann disease,Cystic fibrosis
ENSG00000105357	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
ENSG00000105369	Autosomal agammaglobulinemia
ENSG00000105370	Total early-onset cataract
ENSG00000105372	Blackfan-Diamond anemia
ENSG00000105379	Multiple acyl-CoA dehydrogenation deficiency, mild type,Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
ENSG00000105392	Cone rod dystrophy,Leber congenital amaurosis,Retinitis pigmentosa
ENSG00000105397	Lymphomatoid papulosis,Oligoarticular juvenile idiopathic arthritis,Primary cutaneous anaplastic large cell lymphoma,Rheumatoid factor-negative juvenile idiopathic arthritis,Susceptibility to infection due to TYK2 deficiency
ENSG00000105409	Alternating hemiplegia of childhood,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Rapid-onset dystonia-parkinsonism
ENSG00000105429	Carpenter syndrome
ENSG00000105464	Undetermined early-onset epileptic encephalopathy
ENSG00000105479	Primary ciliary dyskinesia
ENSG00000105568	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
ENSG00000105607	Glutaryl-CoA dehydrogenase deficiency
ENSG00000105610	Congenital dyserythropoietic anemia type IV,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
ENSG00000105618	Retinitis pigmentosa
ENSG00000105639	T-B+ severe combined immunodeficiency due to JAK3 deficiency
ENSG00000105641	Familial thyroid dyshormonogenesis
ENSG00000105647	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
ENSG00000105664	Multiple epiphyseal dysplasia type 1,Pseudoachondroplasia
ENSG00000105675	Familial gastric type 1 neuroendocrine tumor
ENSG00000105695	Autosomal recessive spastic paraplegia type 75
ENSG00000105697	Hemochromatosis type 2
ENSG00000105711	Brugada syndrome,Dravet syndrome,Familial atrial fibrillation,Familial progressive cardiac conduction defect,Generalized epilepsy with febrile seizures-plus
ENSG00000105722	Crouzon disease,Familial lambdoid synostosis,Isolated cloverleaf skull syndrome,Isolated scaphocephaly
ENSG00000105738	Total early-onset cataract
ENSG00000105755	Ethylmalonic encephalopathy
ENSG00000105810	Autosomal recessive primary microcephaly
ENSG00000105852	Amyotrophic lateral sclerosis
ENSG00000105854	Amyotrophic lateral sclerosis
ENSG00000105877	Primary ciliary dyskinesia
ENSG00000105880	Split hand-split foot-deafness syndrome,Split hand-split foot malformation
ENSG00000105928	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000105929	Autosomal recessive distal renal tubular acidosis
ENSG00000105953	Oxoglutaricaciduria
ENSG00000105974	Berardinelli-Seip congenital lipodystrophy,Diffuse cutaneous systemic sclerosis,Heritable pulmonary arterial hypertension,Limited cutaneous systemic sclerosis
ENSG00000105976	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Hereditary papillary renal cell carcinoma,Papillary renal cell carcinoma
ENSG00000105983	Acheiropodia,Hypoplastic tibiae-postaxial polydactyly syndrome,Laurin-Sandrow syndrome,Polydactyly of a triphalangeal thumb, bilateral,Polydactyly of a triphalangeal thumb, unilateral,Radial hemimelia, bilateral,Radial hemimelia, unilateral,Syndactyly type 4,Triphalangeal thumb-polysyndactyly syndrome
ENSG00000105991	Athabaskan brainstem dysgenesis syndrome,Bosley-Salih-Alorainy syndrome
ENSG00000105993	Autosomal dominant limb-girdle muscular dystrophy type 1D
ENSG00000105996	Bilateral microtia-deafness-cleft palate syndrome,Microtia
ENSG00000106003	Autosomal recessive spondylocostal dysostosis
ENSG00000106009	Lethal neonatal spasticity-epileptic encephalopathy syndrome
ENSG00000106025	Familial exudative vitreoretinopathy
ENSG00000106031	Guttmacher syndrome,Hand-foot-genital syndrome
ENSG00000106080	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
ENSG00000106089	Cystic fibrosis
ENSG00000106105	Autosomal dominant Charcot-Marie-Tooth disease type 2D,Distal hereditary motor neuropathy type 5
ENSG00000106128	Isolated growth hormone deficiency type IB
ENSG00000106211	Autosomal dominant Charcot-Marie-Tooth disease type 2F,Distal hereditary motor neuropathy type 2
ENSG00000106258	Tacrolimus dose selection
ENSG00000106327	Hemochromatosis type 3
ENSG00000106331	MODY
ENSG00000106344	ANE syndrome
ENSG00000106348	Leber congenital amaurosis,Retinitis pigmentosa
ENSG00000106366	Congenital plasminogen activator inhibitor type 1 deficiency
ENSG00000106367	MEDNIK syndrome
ENSG00000106397	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
ENSG00000106462	Weaver syndrome
ENSG00000106477	Joubert syndrome,Joubert syndrome with ocular defect
ENSG00000106483	Pyle disease
ENSG00000106536	Nephroblastoma
ENSG00000106571	Acrocallosal syndrome,Greig cephalopolysyndactyly syndrome,Pallister-Hall syndrome,Polysyndactyly, bilateral,Polysyndactyly, unilateral,Postaxial polydactyly type A, bilateral,Postaxial polydactyly type A, unilateral,Postaxial polydactyly type B, bilateral,Postaxial polydactyly type B, unilateral,Tibial hemimelia, bilateral
ENSG00000106605	Hyperbiliverdinemia
ENSG00000106617	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
ENSG00000106633	Hyperinsulinism due to glucokinase deficiency,MODY,Permanent neonatal diabetes mellitus
ENSG00000106638	Williams syndrome
ENSG00000106665	Williams syndrome
ENSG00000106683	Williams syndrome
ENSG00000106688	Dicarboxylic aminoaciduria
ENSG00000106692	Autosomal recessive limb-girdle muscular dystrophy type 2M,Congenital muscular dystrophy, Fukuyama type,Congenital muscular dystrophy without intellectual disability,Familial isolated dilated cardiomyopathy,Muscle-eye-brain disease,Walker-Warburg syndrome
ENSG00000106799	Familial thoracic aortic aneurysm and aortic dissection,Loeys-Dietz syndrome,Multiple self-healing squamous epithelioma
ENSG00000106804	Immunodeficiency due to a late component of complement deficiency
ENSG00000106976	Lennox-Gastaut syndrome,Undetermined early-onset epileptic encephalopathy
ENSG00000106991	Familial cerebral saccular aneurysm,Generalized juvenile polyposis/juvenile polyposis coli,Hereditary hemorrhagic telangiectasia,Heritable pulmonary arterial hypertension
ENSG00000106992	Hemolytic anemia due to adenylate kinase deficiency
ENSG00000107099	Autosomal dominant non-syndromic intellectual disability,Combined immunodeficiency due to DOCK8 deficiency
ENSG00000107104	Inherited congenital spastic tetraplegia
ENSG00000107147	Autosomal dominant nocturnal frontal lobe epilepsy,Malignant migrating partial seizures of infancy
ENSG00000107165	Oculocutaneous albinism type 3
ENSG00000107186	Congenital communicating hydrocephalus
ENSG00000107187	Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Non-acquired combined pituitary hormone deficiency with spine abnormalities
ENSG00000107201	Singleton-Merten dysplasia
ENSG00000107249	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
ENSG00000107290	Amyotrophic lateral sclerosis type 4,Spinocerebellar ataxia with axonal neuropathy type 2
ENSG00000107371	Pontocerebellar hypoplasia type 1
ENSG00000107404	Autosomal dominant Robinow syndrome
ENSG00000107485	Hypoparathyroidism-deafness-renal disease syndrome,Precursor B-cell acute lymphoblastic leukemia
ENSG00000107521	Hermansky-Pudlak syndrome with pulmonary fibrosis
ENSG00000107537	Refsum disease
ENSG00000107566	Autosomal recessive spastic paraplegia type 62
ENSG00000107611	Gr�sbeck-Imerslund disease
ENSG00000107736	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Usher syndrome type 1
ENSG00000107745	Proximal myopathy with extrapyramidal signs
ENSG00000107779	Familial colorectal cancer Type X,Generalized juvenile polyposis/juvenile polyposis coli,Hereditary mixed polyposis syndrome,Juvenile polyposis of infancy
ENSG00000107796	Familial thoracic aortic aneurysm and aortic dissection,Moyamoya disease,Multisystemic smooth muscle dysfunction syndrome
ENSG00000107798	Cholesteryl ester storage disease,Wolman disease
ENSG00000107807	Precursor T-cell acute lymphoblastic leukemia
ENSG00000107815	Autosomal dominant progressive external ophthalmoplegia,Infantile onset spinocerebellar ataxia,Mitochondrial DNA depletion syndrome, hepatocerebrorenal form,Perrault syndrome,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
ENSG00000107831	Alobar holoprosencephaly,Kallmann syndrome,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Normosmic congenital hypogonadotropic hypogonadism,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000107859	Cataract-glaucoma syndrome,Early-onset posterior polar cataract,Familial ocular anterior segment mesenchymal dysgenesis
ENSG00000107882	Desmoplastic/nodular medulloblastoma,Familial multiple meningioma,Gorlin syndrome,Medulloblastoma with extensive nodularity
ENSG00000107890	Autosomal thrombocytopenia with normal platelets
ENSG00000107951	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
ENSG00000107957	Malignant peripheral nerve sheath tumor
ENSG00000107960	Idiopathic pulmonary fibrosis
ENSG00000107984	Idiopathic juvenile osteoporosis
ENSG00000108055	Cornelia de Lange syndrome
ENSG00000108061	Noonan syndrome-like disorder with loose anagen hair
ENSG00000108091	Differentiated thyroid carcinoma
ENSG00000108231	Autosomal dominant epilepsy with auditory features
ENSG00000108255	Early-onset lamellar cataract,Early-onset nuclear cataract,Early-onset posterior polar cataract,Early-onset sutural cataract
ENSG00000108370	Bradyopsia
ENSG00000108375	Hyperplastic polyposis syndrome
ENSG00000108379	Tetraamelia-multiple malformations syndrome
ENSG00000108381	Mild Canavan disease,Severe Canavan disease
ENSG00000108384	Fanconi anemia,Hereditary breast and ovarian cancer syndrome
ENSG00000108395	MULIBREY nanism
ENSG00000108433	Progressive myoclonic epilepsy type 6
ENSG00000108439	Pyridoxal phosphate-responsive seizures
ENSG00000108474	CHIME syndrome,Hyperphosphatasia-intellectual disability syndrome
ENSG00000108479	Galactokinase deficiency
ENSG00000108515	Glycogen storage disease due to muscle beta-enolase deficiency
ENSG00000108518	Amyotrophic lateral sclerosis
ENSG00000108556	Postsynaptic congenital myasthenic syndromes,Postsynaptic congenital myasthenic syndromes
ENSG00000108557	17p11.2 microduplication syndrome,Smith-Magenis syndrome,Smith-Magenis syndrome
ENSG00000108578	Resistance to bleomycine in the treatment of testicular cancer
ENSG00000108641	Joubert syndrome,Meckel syndrome
ENSG00000108733	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000108784	Autosomal dominant Charcot-Marie-Tooth disease type 2V,Sanfilippo syndrome type B
ENSG00000108788	Takayasu arteritis
ENSG00000108797	Hypomyelination neuropathy-arthrogryposis syndrome
ENSG00000108813	Cleft lip/palate
ENSG00000108821	Caffey disease,Dermatofibrosarcoma protuberans,Ehlers-Danlos/osteogenesis imperfecta syndrome,Ehlers-Danlos syndrome type 1,Ehlers-Danlos syndrome type 2,Ehlers-Danlos syndrome type 7A,Ehlers-Danlos syndrome, vascular-like type,High bone mass osteogenesis imperfecta,Osteogenesis imperfecta type 1,Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000108823	Autosomal recessive limb-girdle muscular dystrophy type 2D
ENSG00000108883	Mandibulofacial dysostosis-microcephaly syndrome
ENSG00000108924	Precursor B-cell acute lymphoblastic leukemia
ENSG00000108946	Acrodysostosis,Acrodysostosis with multiple hormone resistance,Acute promyelocytic leukemia,Carney complex,Familial atrial myxoma,Primary pigmented nodular adrenocortical disease
ENSG00000108950	Amelogenesis imperfecta-gingival hyperplasia syndrome,Amelogenesis imperfecta-nephrocalcinosis syndrome
ENSG00000108953	17p13.3 microduplication syndrome,Clear cell sarcoma of kidney,Distal 17p13.3 microdeletion syndrome,Endometrial stromal sarcoma,Miller-Dieker syndrome
ENSG00000108963	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
ENSG00000109062	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
ENSG00000109063	Autosomal dominant multiple pterygium syndrome,Digitotalar dysmorphism,Freeman-Sheldon syndrome,Sheldon-Hall syndrome
ENSG00000109099	Acute inflammatory demyelinating polyradiculoneuropathy,Charcot-Marie-Tooth disease type 1A,Charcot-Marie-Tooth disease type 1E,Dejerine-Sottas syndrome,Hereditary neuropathy with liability to pressure palsies,Hereditary neuropathy with liability to pressure palsies,Roussy-L�vy syndrome
ENSG00000109101	Alymphoid cystic thymic dysgenesis
ENSG00000109103	Cone rod dystrophy,Idiopathic CD4 lymphocytopenia
ENSG00000109132	Haddad syndrome,Neuroblastoma,Ondine syndrome
ENSG00000109163	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000109320	Common variable immunodeficiency
ENSG00000109323	Beta-mannosidosis
ENSG00000109339	Lennox-Gastaut syndrome
ENSG00000109501	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Early-onset nuclear cataract,Wolfram-like syndrome,Wolfram syndrome
ENSG00000109536	Facioscapulohumeral dystrophy
ENSG00000109618	Pontocerebellar hypoplasia type 2,Progressive cerebello-cerebral atrophy
ENSG00000109654	Charcot-Marie-Tooth disease type 2R
ENSG00000109667	Hereditary renal hypouricemia
ENSG00000109685	Wolf-Hirschhorn syndrome
ENSG00000109705	Spondylo-megaepiphyseal-metaphyseal dysplasia
ENSG00000109738	Hereditary hyperekplexia
ENSG00000109775	Hip dysplasia, Beukes type
ENSG00000109819	Amyotrophic lateral sclerosis
ENSG00000109846	Alpha-B crystallin-related late-onset distal myopathy,Early-onset lamellar cataract,Early-onset nuclear cataract,Early-onset posterior polar cataract,Familial isolated dilated cardiomyopathy,Fatal infantile hypertonic myofibrillar myopathy
ENSG00000109861	Haim-Munk syndrome,Papillon-Lef�vre syndrome
ENSG00000109906	Acute promyelocytic leukemia
ENSG00000109927	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000109929	Lathosterolosis
ENSG00000110057	Herpes simplex encephalitis
ENSG00000110063	Autosomal recessive non-syndromic intellectual disability
ENSG00000110074	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000110090	Carnitine palmitoyl transferase 1A deficiency
ENSG00000110092	B-cell chronic lymphocytic leukemia,Mantle cell lymphoma,Multiple myeloma
ENSG00000110195	Neurodegenerative syndrome due to cerebral folate transport deficiency
ENSG00000110243	Hyperlipoproteinemia type 5
ENSG00000110245	Cholesterol-ester transfer protein deficiency
ENSG00000110274	Senior-Loken syndrome
ENSG00000110318	Monomelic amyotrophy
ENSG00000110324	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
ENSG00000110395	Juvenile myelomonocytic leukemia,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
ENSG00000110400	Cleft lip and alveolus,Cleft lip/palate,Isolated cleft lip,Zlotogora-Ogur syndrome
ENSG00000110435	Pyruvate dehydrogenase E3-binding protein deficiency
ENSG00000110619	Inflammatory myofibroblastic tumor
ENSG00000110628	Hereditary breast cancer
ENSG00000110651	Common variable immunodeficiency
ENSG00000110711	Acromegaly,Familial isolated pituitary adenoma,Null pituitary adenoma,Prolactinoma,Silent pituitary adenoma
ENSG00000110717	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000110719	Autosomal dominant severe congenital neutropenia,Autosomal recessive malignant osteopetrosis
ENSG00000110723	Epidermolysis bullosa simplex due to exophilin 5 deficiency
ENSG00000110756	Hermansky-Pudlak syndrome without pulmonary fibrosis
ENSG00000110777	Primary biliary cholangitis
ENSG00000110799	Von Willebrand disease type 1,Von Willebrand disease type 2A,Von Willebrand disease type 2B,Von Willebrand disease type 2M,Von Willebrand disease type 2N,Von Willebrand disease type 3
ENSG00000110887	Amyotrophic lateral sclerosis
ENSG00000110911	Microcytic anemia with liver iron overload
ENSG00000110921	Disseminated superficial actinic porokeratosis,Hyperimmunoglobulinemia D with periodic fever,Mevalonic aciduria,Porokeratosis of Mibelli
ENSG00000111012	Hypocalcemic vitamin D-dependent rickets
ENSG00000111046	Autosomal dominant centronuclear myopathy
ENSG00000111199	Autosomal dominant brachyolmia,Autosomal dominant Charcot-Marie-Tooth disease type 2C,Autosomal dominant congenital benign spinal muscular atrophy,Familial avascular necrosis of femoral head,Familial digital arthropathy-brachydactyly,Metatropic dysplasia,Parastremmatic dwarfism,Scapuloperoneal spinal muscular atrophy,Spondyloepiphyseal dysplasia, Maroteaux type,Spondylometaphyseal dysplasia, Kozlowski type
ENSG00000111245	Congenital fiber-type disproportion myopathy
ENSG00000111252	Essential thrombocythemia,Growth retardation-mild developmental delay-chronic hepatitis syndrome
ENSG00000111262	Episodic ataxia type 1,Hereditary continuous muscle fiber activity,Isolated autosomal dominant hypomagnesemia, Glaudemans type
ENSG00000111276	Multiple endocrine neoplasia type 1,Multiple endocrine neoplasia type 4
ENSG00000111319	Generalized pseudohypoaldosteronism type 1,Idiopathic bronchiectasis
ENSG00000111341	Keutel syndrome
ENSG00000111361	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000111424	Hypocalcemic vitamin D-resistant rickets
ENSG00000111537	Idiopathic aplastic anemia
ENSG00000111581	46,XX gonadal dysgenesis,Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000111669	Triose phosphate-isomerase deficiency
ENSG00000111670	Mucolipidosis type II,Mucolipidosis type III alpha/beta
ENSG00000111676	Dentatorubral pallidoluysian atrophy
ENSG00000111678	Temtamy syndrome
ENSG00000111700	Rotor syndrome
ENSG00000111713	Glycogen storage disease due to hepatic glycogen synthase deficiency
ENSG00000111716	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
ENSG00000111732	Hyper-IgM syndrome type 2
ENSG00000111752	Autosomal recessive primary microcephaly
ENSG00000111775	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
ENSG00000111799	Bethlem myopathy,Congenital muscular dystrophy, Ullrich type
ENSG00000111802	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
ENSG00000111817	Ehlers-Danlos syndrome, musculocontractural type
ENSG00000111834	Primary ciliary dyskinesia
ENSG00000111837	Retinitis pigmentosa
ENSG00000111846	Total early-onset cataract
ENSG00000111877	46,XX ovarian dysgenesis-short stature syndrome
ENSG00000111913	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000111961	Familial generalized lentiginosis,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
ENSG00000112039	Fanconi anemia
ENSG00000112041	Leber congenital amaurosis,Retinitis pigmentosa
ENSG00000112053	Non-syndromic male infertility due to sperm motility disorder
ENSG00000112077	Overhydrated hereditary stomatocytosis,Rh deficiency syndrome
ENSG00000112116	Chronic mucocutaneous candidiasis
ENSG00000112144	Endocrine-cerebro-osteodysplasia syndrome
ENSG00000112210	Carpenter syndrome
ENSG00000112234	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
ENSG00000112246	6q16 deletion syndrome,Obesity due to SIM1 deficiency,Prader-Willi-like syndrome due to point mutation
ENSG00000112276	Autosomal recessive limb-girdle muscular dystrophy type 2X
ENSG00000112280	Autosomal recessive Stickler syndrome,Multiple epiphyseal dysplasia due to collagen 9 anomaly
ENSG00000112282	Autosomal recessive non-syndromic intellectual disability
ENSG00000112294	Succinic semialdehyde dehydrogenase deficiency
ENSG00000112312	Ear-patella-short stature syndrome
ENSG00000112319	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Sensorineural deafness with dilated cardiomyopathy
ENSG00000112357	Refsum disease,Rhizomelic chondrodysplasia punctata type 1
ENSG00000112365	ICF syndrome
ENSG00000112367	Amyotrophic lateral sclerosis,Bilateral parasagittal parieto-occipital polymicrogyria,Charcot-Marie-Tooth disease type 4J,Yunis-Varon syndrome
ENSG00000112425	Lafora disease
ENSG00000112486	Diffuse cutaneous systemic sclerosis,Limited cutaneous systemic sclerosis
ENSG00000112531	Angiocentric glioma
ENSG00000112561	MiT family translocation renal cell carcinoma
ENSG00000112562	Atypical dentin dysplasia due to SMOC2 deficiency
ENSG00000112592	Spinocerebellar ataxia type 17
ENSG00000112599	Retinitis pigmentosa
ENSG00000112619	Adult-onset foveomacular vitelliform dystrophy,Butterfly-shaped pigment dystrophy,Central areolar choroidal dystrophy,Cone rod dystrophy,Fundus albipunctatus,Multifocal pattern dystrophy simulating fundus flavimaculatus,Retinitis pigmentosa,Retinitis punctata albescens,Stargardt disease
ENSG00000112640	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
ENSG00000112706	Adult-onset foveomacular vitelliform dystrophy
ENSG00000112761	Progressive pseudorheumatoid arthropathy of childhood
ENSG00000112769	Familial isolated dilated cardiomyopathy
ENSG00000112782	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000112837	Congenital hydronephrosis
ENSG00000112855	Perrault syndrome
ENSG00000112902	Monosomy 5p
ENSG00000112936	Immunodeficiency due to a late component of complement deficiency
ENSG00000112964	Laron syndrome,Short stature due to partial GHR deficiency
ENSG00000112992	Familial glucocorticoid deficiency
ENSG00000113013	Autosomal recessive sideroblastic anemia
ENSG00000113083	Familial thoracic aortic aneurysm and aortic dissection
ENSG00000113140	Osteogenesis imperfecta type 4
ENSG00000113231	Autosomal dominant striatal neurodegeneration,Primary pigmented nodular adrenocortical disease
ENSG00000113262	Congenital stationary night blindness
ENSG00000113263	Autosomal recessive lymphoproliferative disease
ENSG00000113273	Mucopolysaccharidosis type 6, rapidly progressing,Mucopolysaccharidosis type 6, slowly progressing
ENSG00000113302	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,Takayasu arteritis
ENSG00000113327	Childhood absence epilepsy,Dravet syndrome,Generalized epilepsy with febrile seizures-plus,Rolandic epilepsy
ENSG00000113368	Adult-onset autosomal dominant leukodystrophy
ENSG00000113448	Acrodysostosis,Acrodysostosis with multiple hormone resistance,PDE4D haploinsufficiency syndrome
ENSG00000113494	Familial  hyperprolactinemia,Multiple fibroadenoma of the breast
ENSG00000113522	Hereditary breast and ovarian cancer syndrome,Nijmegen breakage syndrome-like disorder
ENSG00000113569	Familial atrial fibrillation
ENSG00000113580	Glucocorticoid resistance
ENSG00000113594	St�ve-Wiedemann syndrome
ENSG00000113600	Immunodeficiency due to a late component of complement deficiency
ENSG00000113643	RARS-related autosomal recessive hypomyelinating leukodystrophy
ENSG00000113721	Acroosteolysis-keloid-like lesions-premature aging syndrome,Bilateral striopallidodentate calcinosis,Chronic myelomonocytic leukemia,Infantile myofibromatosis,Myeloid neoplasm associated with PDGFRB rearrangement,Primary hypereosinophilic syndrome,Unclassified chronic myeloproliferative disease
ENSG00000113790	Bifunctional enzyme deficiency,Primary Fanconi syndrome
ENSG00000113851	Autosomal recessive non-syndromic intellectual disability,Distal monosomy 3p
ENSG00000113889	Congenital high-molecular-weight kininogen deficiency
ENSG00000113905	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
ENSG00000113916	Follicular lymphoma,Intravascular large B-cell lymphoma,Primary mediastinal large B-cell lymphoma
ENSG00000113924	Alkaptonuria
ENSG00000113946	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
ENSG00000113966	Bardet-Biedl syndrome,Retinitis pigmentosa
ENSG00000113971	Late-onset nephronophthisis,NPHP3-related Meckel-like syndrome,Renal-hepatic-pancreatic dysplasia,Senior-Loken syndrome
ENSG00000114054	Propionic acidemia
ENSG00000114062	15q11q13 microduplication syndrome,Angelman syndrome due to a point mutation,Angelman syndrome due to imprinting defect in 15q11-q13,Angelman syndrome due to maternal 15q11q13 deletion,Angelman syndrome due to paternal uniparental disomy of chromosome 15
ENSG00000114200	Butyrylcholinesterase deficiency,Curariform drugs toxicity
ENSG00000114209	Familial cerebral cavernous malformation
ENSG00000114251	Autosomal dominant Robinow syndrome
ENSG00000114270	Acral dystrophic epidermolysis bullosa,Centripetalis recessive dystrophic epidermolysis bullosa,Dystrophic epidermolysis bullosa, nails only,Dystrophic epidermolysis bullosa pruriginosa,Epidermolysis bullosa simplex superficialis,Generalized dominant dystrophic epidermolysis bullosa,Pretibial dystrophic epidermolysis bullosa,Recessive dystrophic epidermolysis bullosa-generalized other,Recessive dystrophic epidermolysis bullosa inversa,Severe generalized recessive dystrophic epidermolysis bullosa,Transient bullous dermolysis of the newborn
ENSG00000114279	Undetermined early-onset epileptic encephalopathy
ENSG00000114349	Congenital stationary night blindness
ENSG00000114354	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,Autosomal recessive spastic paraplegia type 57,Differentiated thyroid carcinoma,Extraskeletal myxoid chondrosarcoma,Hereditary motor and sensory neuropathy, Okinawa type
ENSG00000114374	Partial chromosome Y deletion
ENSG00000114378	Hyaluronidase deficiency
ENSG00000114388	Familial focal epilepsy with variable foci
ENSG00000114450	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
ENSG00000114480	Adult polyglucosan body disease,Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form,Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form,Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
ENSG00000114491	Hereditary orotic aciduria
ENSG00000114686	Combined oxidative phosphorylation defect type 9
ENSG00000114738	Martinique crinkled retinal pigment epitheliopathy
ENSG00000114739	Situs ambiguus
ENSG00000114742	Autosomal recessive spastic paraplegia type 60
ENSG00000114841	Non-syndromic male infertility due to sperm motility disorder
ENSG00000114854	Familial isolated dilated cardiomyopathy
ENSG00000114859	Juvenile myoclonic epilepsy,Leukoencephalopathy with mild cerebellar ataxia and white matter edema
ENSG00000114861	Intellectual disability-severe speech delay-mild dysmorphism syndrome,MALT lymphoma,Precursor B-cell acute lymphoblastic leukemia
ENSG00000114867	Hereditary late-onset Parkinson disease
ENSG00000114956	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
ENSG00000114988	Autosomal recessive non-syndromic intellectual disability
ENSG00000115020	Fleck corneal dystrophy
ENSG00000115085	Combined immunodeficiency due to ZAP70 deficiency
ENSG00000115107	Severe congenital hypochromic anemia with ringed sideroblasts
ENSG00000115138	Obesity due to pro-opiomelanocortin deficiency
ENSG00000115155	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000115170	Fibrodysplasia ossificans progressiva
ENSG00000115204	Navajo neurohepatopathy
ENSG00000115211	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000115221	Alopecia-intellectual disability syndrome,Hypocalcified amelogenesis imperfecta,Hypoplastic amelogenesis imperfecta
ENSG00000115266	Sotos syndrome
ENSG00000115267	Aicardi-Gouti�res syndrome,Singleton-Merten dysplasia
ENSG00000115268	B-cell chronic lymphocytic leukemia
ENSG00000115275	MOGS-CDG
ENSG00000115286	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000115317	Young-onset Parkinson disease
ENSG00000115339	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
ENSG00000115355	PEHO-like syndrome
ENSG00000115361	Long chain acyl-CoA dehydrogenase deficiency
ENSG00000115380	Familial drusen
ENSG00000115392	Fanconi anemia
ENSG00000115414	Fibronectin glomerulopathy
ENSG00000115415	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,Susceptibility to viral and mycobacterial infections
ENSG00000115459	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000115474	Leber congenital amaurosis,Snowflake vitreoretinal degeneration
ENSG00000115486	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,Hereditary combined deficiency of vitamin K-dependent clotting factors,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
ENSG00000115524	Acquired idiopathic sideroblastic anemia,Uveal melanoma
ENSG00000115525	Amish infantile epilepsy syndrome,Salt-and-pepper syndrome
ENSG00000115641	Familial isolated dilated cardiomyopathy
ENSG00000115648	Griscelli disease type 3
ENSG00000115657	Coloboma of choroid and retina,Coloboma of eye lens,Coloboma of eyelid,Coloboma of iris,Coloboma of macula,Coloboma of optic papilla,Colobomatous microphthalmia,Dyschromatosis universalis,Familial pseudohyperkalemia
ENSG00000115665	Distal hereditary motor neuropathy type 7,Presynaptic congenital myasthenic syndromes
ENSG00000115705	Familial thyroid dyshormonogenesis
ENSG00000115718	Hereditary thrombophilia due to congenital protein C deficiency
ENSG00000115827	Woodhouse-Sakati syndrome
ENSG00000115839	Cataract-intellectual disability-hypogonadism syndrome,Micro syndrome
ENSG00000115840	Epileptic encephalopathy with global cerebral demyelination
ENSG00000115850	Congenital lactase deficiency
ENSG00000115866	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
ENSG00000115902	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ENSG00000115904	Hereditary gingival fibromatosis,Noonan syndrome
ENSG00000115919	Encephalopathy due to hydroxykynureninuria
ENSG00000115935	Wiskott-Aldrich syndrome
ENSG00000115947	Ear-patella-short stature syndrome
ENSG00000116001	Distal myopathy, Welander type
ENSG00000116014	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000116016	Autosomal dominant secondary polycythemia,Multiple paragangliomas associated with polycythemia,Sporadic pheochromocytoma,Sporadic secreting paraganglioma
ENSG00000116030	Oligodontia
ENSG00000116039	Autosomal recessive distal renal tubular acidosis
ENSG00000116062	Constitutional mismatch repair deficiency syndrome,Lynch syndrome,Muir-Torre syndrome
ENSG00000116096	Dopa-responsive dystonia due to sepiapterin reductase deficiency
ENSG00000116106	Amyotrophic lateral sclerosis
ENSG00000116127	Alstr�m syndrome
ENSG00000116132	Agnathia-holoprosencephaly-situs inversus syndrome
ENSG00000116133	Desmosterolosis
ENSG00000116171	Leukoencephalopathy-dystonia-motor neuropathy syndrome
ENSG00000116198	Joubert syndrome
ENSG00000116218	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes,Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
ENSG00000116288	Amyotrophic lateral sclerosis-parkinsonism-dementia complex,Young-onset Parkinson disease
ENSG00000116337	Autosomal recessive spastic paraplegia type 63,Pontocerebellar hypoplasia type 9
ENSG00000116473	Kabuki syndrome
ENSG00000116560	MiT family translocation renal cell carcinoma
ENSG00000116586	Primary immunodeficiency syndrome due to p14 deficiency
ENSG00000116641	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
ENSG00000116670	Fanconi anemia
ENSG00000116675	Atypical juvenile parkinsonism,Young-onset Parkinson disease
ENSG00000116678	Obesity due to leptin receptor gene deficiency
ENSG00000116688	Autosomal dominant Charcot-Marie-Tooth disease type 2A2,Hereditary motor and sensory neuropathy type 5,Hereditary motor and sensory neuropathy type 6,Multiple symmetric lipomatosis,Severe early-onset axonal neuropathy due to MFN2 deficiency
ENSG00000116690	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
ENSG00000116701	Chronic granulomatous disease
ENSG00000116704	Schneckenbecken dysplasia
ENSG00000116711	Cryptogenic multifocal ulcerous stenosing enteritis
ENSG00000116745	Leber congenital amaurosis,Retinitis pigmentosa,Severe early-childhood-onset retinal dystrophy
ENSG00000116748	Adenosine monophosphate deaminase deficiency
ENSG00000116761	Cystathioninuria
ENSG00000116783	Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
ENSG00000116785	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
ENSG00000116906	Rhizomelic chondrodysplasia punctata type 2
ENSG00000116957	Autosomal recessive Kenny-Caffey syndrome,Sanjad-Sakati syndrome
ENSG00000116984	Methylcobalamin deficiency type cblG
ENSG00000117013	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000117020	Hemimegalencephaly,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
ENSG00000117054	Medium chain acyl-CoA dehydrogenase deficiency
ENSG00000117118	Carney-Stratakis syndrome,Cowden syndrome,Gastrointestinal stromal tumor,Hereditary pheochromocytoma-paraganglioma,Isolated succinate-CoQ reductase deficiency,Sporadic pheochromocytoma
ENSG00000117298	Hirschsprung disease
ENSG00000117305	3-hydroxy-3-methylglutaric aciduria
ENSG00000117308	Erythrocyte galactose epimerase deficiency,Generalized galactose epimerase deficiency
ENSG00000117322	Common variable immunodeficiency
ENSG00000117335	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly,HELLP syndrome
ENSG00000117360	Retinitis pigmentosa
ENSG00000117385	Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3
ENSG00000117394	Childhood absence epilepsy,Encephalopathy due to GLUT1 deficiency,Hereditary cryohydrocytosis with reduced stomatin,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,Paroxysmal exertion-induced dyskinesia
ENSG00000117400	Congenital amegakaryocytic thrombocytopenia,Essential thrombocythemia,Familial thrombocytosis,Hereditary isolated aplastic anemia,Polycythemia vera,Primary myelofibrosis
ENSG00000117425	Commissural facial cleft,Gorlin syndrome
ENSG00000117479	Thiamine-responsive megaloblastic anemia syndrome
ENSG00000117560	Autoimmune lymphoproliferative syndrome
ENSG00000117586	Narcolepsy-cataplexy syndrome
ENSG00000117593	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
ENSG00000117594	Hyperandrogenism due to cortisone reductase deficiency
ENSG00000117595	Autosomal dominant popliteal pterygium syndrome,Cleft lip and alveolus,Cleft lip/palate,Isolated cleft lip,Oligodontia,Van der Woude syndrome
ENSG00000117601	Hereditary thrombophilia due to congenital antithrombin deficiency
ENSG00000117620	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
ENSG00000117650	Retinitis pigmentosa
ENSG00000117682	Retinitis pigmentosa
ENSG00000117713	Coffin-Siris syndrome
ENSG00000117724	Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
ENSG00000117983	Diffuse panbronchiolitis,Idiopathic pulmonary fibrosis
ENSG00000117984	CLN10 disease
ENSG00000118004	3MC syndrome
ENSG00000118046	Peutz-Jeghers syndrome
ENSG00000118058	Acute biphenotypic leukemia,Acute myeloid leukemia with 11q23 abnormalities,Acute myeloid leukemia with t(9;11)(p22;q23),Acute undifferentiated leukemia,Bilineal acute leukemia,Precursor B-cell acute lymphoblastic leukemia,Wiedemann-Steiner syndrome
ENSG00000118094	Diarrhea-vomiting due to trehalase deficiency
ENSG00000118137	AApoAI amyloidosis,Apolipoprotein A-I deficiency
ENSG00000118162	Macrocephaly-developmental delay syndrome
ENSG00000118193	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
ENSG00000118194	Familial isolated dilated cardiomyopathy,Familial isolated restrictive cardiomyopathy,Left ventricular noncompaction
ENSG00000118197	Orofaciodigital syndrome type 5
ENSG00000118217	Achromatopsia
ENSG00000118231	Cataract-microcornea syndrome,Cerulean cataract,Coralliform cataract,Early-onset lamellar cataract,Early-onset nuclear cataract,Pulverulent cataract
ENSG00000118246	FASTKD2-related infantile mitochondrial encephalomyopathy
ENSG00000118260	Melanoma of soft tissue
ENSG00000118271	ATTRV122I amyloidosis,ATTRV30M amyloidosis
ENSG00000118402	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,Spinocerebellar ataxia type 34,Stargardt disease
ENSG00000118495	Paternal uniparental disomy of chromosome 6,Transient neonatal diabetes mellitus
ENSG00000118503	Hereditary pediatric Beh�et-like disease
ENSG00000118513	Acute basophilic leukemia,Angiocentric glioma,Precursor T-cell acute lymphoblastic leukemia
ENSG00000118520	Argininemia
ENSG00000118523	Diffuse cutaneous systemic sclerosis,Limited cutaneous systemic sclerosis
ENSG00000118600	Walker-Warburg syndrome
ENSG00000118729	Catecholaminergic polymorphic ventricular tachycardia
ENSG00000118785	Pediatric systemic lupus erythematosus
ENSG00000118873	Autosomal recessive spastic paraplegia type 69,Cataract-intellectual disability-hypogonadism syndrome,Micro syndrome
ENSG00000118965	Cranioectodermal dysplasia,Short rib-polydactyly syndrome, Verma-Naumoff type
ENSG00000118971	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
ENSG00000118972	Autosomal dominant hypophosphatemic rickets,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
ENSG00000119013	Isolated complex I deficiency
ENSG00000119042	2q32q33 microdeletion syndrome,2q33.1 microdeletion syndrome
ENSG00000119121	Primary hypomagnesemia with secondary hypocalcemia
ENSG00000119139	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Familial hypercholanemia,Progressive familial intrahepatic cholestasis type 2
ENSG00000119333	Jeune syndrome,Short rib-polydactyly syndrome, Verma-Naumoff type
ENSG00000119392	Lethal arthrogryposis-anterior horn cell disease syndrome,Lethal congenital contracture syndrome type 1
ENSG00000119401	Autosomal recessive limb-girdle muscular dystrophy type 2H,Bardet-Biedl syndrome
ENSG00000119508	Extraskeletal myxoid chondrosarcoma
ENSG00000119509	Infantile nephronophthisis,Senior-Loken syndrome
ENSG00000119523	ALG2-CDG,Congenital myasthenic syndromes with glycosylation defect
ENSG00000119535	Atypical chronic myeloid leukemia,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,Chronic neutrophilic leukemia,Hereditary neutrophilia
ENSG00000119541	Dentin dysplasia type I
ENSG00000119614	Colobomatous microphthalmia,Isolated anophthalmia-microphthalmia syndrome
ENSG00000119638	NEK9-related lethal skeletal dysplasia,Nevus comedonicus syndrome
ENSG00000119650	Cranioectodermal dysplasia
ENSG00000119655	Niemann-Pick disease type C, adult neurologic onset,Niemann-Pick disease type C, juvenile neurologic onset,Niemann-Pick disease type C, late infantile neurologic onset,Niemann-Pick disease type C, severe early infantile neurologic onset,Niemann-Pick disease type C, severe perinatal form
ENSG00000119661	Primary ciliary dyskinesia
ENSG00000119681	Congenital glaucoma,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,Weill-Marchesani syndrome
ENSG00000119684	Lynch syndrome
ENSG00000119685	Cone rod dystrophy
ENSG00000119686	Fowler syndrome
ENSG00000119688	Methylmalonic acidemia with homocystinuria, type cblJ
ENSG00000119699	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form,Familial thoracic aortic aneurysm and aortic dissection
ENSG00000119711	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
ENSG00000119714	Hypomaturation amelogenesis imperfecta
ENSG00000119715	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000119718	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000119723	Familial steroid-resistant nephrotic syndrome with sensorineural deafness,Neurofibromatosis type 3
ENSG00000119772	Tall stature-intellectual disability-facial dysmorphism syndrome
ENSG00000119866	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
ENSG00000119888	Intestinal epithelial dysplasia,Lynch syndrome
ENSG00000119899	Free sialic acid storage disease, infantile form,Intermediate severe Salla disease,Salla disease
ENSG00000119969	ICF syndrome
ENSG00000119977	Joubert syndrome with orofaciodigital defect,Orofaciodigital syndrome type 4
ENSG00000120008	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000120071	17q21.31 microdeletion syndrome,Koolen-De Vries syndrome due to a point mutation
ENSG00000120094	Congenital hereditary facial paralysis-variable hearing loss syndrome
ENSG00000120149	Craniosynostosis, Boston type,Enlarged parietal foramina,Parietal foramina with cleidocranial dysplasia
ENSG00000120156	Blue rubber bleb nevus,Congenital glaucoma,Mucocutaneous venous malformations
ENSG00000120370	Geroderma osteodysplastica
ENSG00000120457	Cardiodysrhythmic potassium-sensitive periodic paralysis,Familial hyperaldosteronism type III,Romano-Ward syndrome
ENSG00000120498	Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000120539	Autosomal thrombocytopenia with normal platelets
ENSG00000120659	Autosomal recessive malignant osteopetrosis
ENSG00000120693	Heritable pulmonary arterial hypertension
ENSG00000120699	Pontocerebellar hypoplasia type 1
ENSG00000120708	Granular corneal dystrophy type I,Granular corneal dystrophy type II,Lattice corneal dystrophy type I,Microcystic corneal dystrophy,Reis-B�cklers corneal dystrophy,Thiel-Behnke corneal dystrophy
ENSG00000120725	Marinesco-Sj�gren syndrome
ENSG00000120729	Autosomal dominant limb-girdle muscular dystrophy type 1A,Distal myotilinopathy,Spheroid body myopathy
ENSG00000120802	Familial isolated dilated cardiomyopathy
ENSG00000120903	Autosomal dominant nocturnal frontal lobe epilepsy
ENSG00000120942	Schnyder corneal dystrophy
ENSG00000120948	Amyotrophic lateral sclerosis,Frontotemporal dementia with motor neuron disease
ENSG00000121068	17q23.1q23.2 microdeletion syndrome
ENSG00000121075	17q23.1q23.2 microdeletion syndrome,Coxopodopatellar syndrome,Familial clubfoot due to 17q23.1q23.2 microduplication,Heritable pulmonary arterial hypertension
ENSG00000121207	Leber congenital amaurosis,Retinitis pigmentosa,Severe early-childhood-onset retinal dystrophy
ENSG00000121361	Brugada syndrome,Hypertrichotic osteochondrodysplasia, Cantu type
ENSG00000121454	Combined pituitary hormone deficiencies, genetic forms,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Pituitary stalk interruption syndrome,Short stature-pituitary and cerebellar defects-small sella turcica syndrome
ENSG00000121552	Acral peeling skin syndrome,Exfoliative ichthyosis
ENSG00000121634	Cataract-microcornea syndrome,Early-onset nuclear cataract,Early-onset sutural cataract,Pulverulent cataract,Total early-onset cataract
ENSG00000121680	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000121691	Acatalasemia
ENSG00000121742	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Hidrotic ectodermal dysplasia,KID syndrome
ENSG00000121743	Early-onset nuclear cataract,Early-onset posterior polar cataract,Pulverulent cataract
ENSG00000121853	Short stature due to GHSR deficiency
ENSG00000121879	CLOVES syndrome,Cowden syndrome,Hemihyperplasia-multiple lipomatosis syndrome,Hemimegalencephaly,Lynch syndrome,Macrodactyly of fingers, unilateral,Macrodactyly of toes, unilateral,Megalencephaly-capillary malformation-polymicrogyria syndrome,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
ENSG00000121897	Lipoic acid synthetase deficiency
ENSG00000121905	Primary dystonia, DYT2 type
ENSG00000121957	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Chudley-McCullough syndrome
ENSG00000121966	WHIM syndrome
ENSG00000122025	Acute biphenotypic leukemia,Acute myeloblastic leukemia with maturation,Acute myeloblastic leukemia without maturation,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Acute myeloid leukemia with minimal differentiation,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,Precursor B-cell acute lymphoblastic leukemia,Precursor T-cell acute lymphoblastic leukemia
ENSG00000122026	Hypotrichosis simplex
ENSG00000122121	Renin-angiotensin-aldosterone system-blocker-induced angioedema
ENSG00000122126	Dent disease type 2,Oculocerebrorenal syndrome of Lowe
ENSG00000122145	Abruzzo-Erickson syndrome,X-linked cleft palate and ankyloglossia
ENSG00000122194	Hypoplasminogenemia,Ligneous conjunctivitis
ENSG00000122218	Autoimmune interstitial lung disease-arthritis syndrome
ENSG00000122335	MEGDEL syndrome
ENSG00000122367	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form,Familial isolated dilated cardiomyopathy,Late-onset distal myopathy, Markesbery-Griggs type,Left ventricular noncompaction
ENSG00000122406	Blackfan-Diamond anemia
ENSG00000122507	Bardet-Biedl syndrome
ENSG00000122512	Constitutional mismatch repair deficiency syndrome,Lynch syndrome
ENSG00000122550	Cold-induced sweating syndrome,Retinitis pigmentosa
ENSG00000122566	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
ENSG00000122591	Hypomyelination-congenital cataract syndrome
ENSG00000122641	Adenocarcinoma of ovary
ENSG00000122643	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
ENSG00000122691	Isolated brachycephaly,Isolated plagiocephaly,Isolated scaphocephaly,Saethre-Chotzen syndrome
ENSG00000122735	Primary ciliary dyskinesia
ENSG00000122778	Pilocytic astrocytoma
ENSG00000122779	Differentiated thyroid carcinoma
ENSG00000122787	Congenital bile acid synthesis defect type 2
ENSG00000122852	Idiopathic pulmonary fibrosis
ENSG00000122859	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
ENSG00000122861	Quebec platelet disorder
ENSG00000122863	CHST3-related skeletal dysplasia
ENSG00000122877	Charcot-Marie-Tooth disease type 1D,Charcot-Marie-Tooth disease type 4E,Dejerine-Sottas syndrome
ENSG00000122966	Autosomal recessive primary microcephaly
ENSG00000122971	Short chain acyl-CoA dehydrogenase deficiency
ENSG00000123066	Autosomal recessive non-syndromic intellectual disability,Cardiac anomalies-developmental delay-facial dysmorphism syndrome,Congenitally uncorrected transposition of the great arteries
ENSG00000123080	Multiple endocrine neoplasia type 1
ENSG00000123104	Isolated generalized anhidrosis with normal sweat glands
ENSG00000123191	Wilson disease
ENSG00000123240	Amyotrophic lateral sclerosis
ENSG00000123268	Melanoma of soft tissue
ENSG00000123297	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
ENSG00000123342	Familial cavitary optic disc anomaly
ENSG00000123364	Pure hair and nail ectodermal dysplasia
ENSG00000123384	Atrophoderma vermiculata,Keratosis follicularis spinulosa decalvans
ENSG00000123453	Sarcosinemia
ENSG00000123454	Dopamine beta-hydroxylase deficiency
ENSG00000123472	Isolated ATP synthase deficiency
ENSG00000123473	Autosomal recessive primary microcephaly,Precursor T-cell acute lymphoblastic leukemia
ENSG00000123500	Metaphyseal chondrodysplasia, Schmid type
ENSG00000123545	Isolated complex I deficiency
ENSG00000123560	Null syndrome,Pelizaeus-Merzbacher disease, classic form,Pelizaeus-Merzbacher disease, connatal form,Pelizaeus-Merzbacher disease in female carriers,Pelizaeus-Merzbacher disease, transitional form,Spastic paraplegia type 2
ENSG00000123607	Infantile nephronophthisis,Jeune syndrome
ENSG00000123700	Cardiodysrhythmic potassium-sensitive periodic paralysis,Familial atrial fibrillation,Familial short QT syndrome
ENSG00000123810	Meckel syndrome
ENSG00000123815	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000124006	3M syndrome
ENSG00000124140	Malignant migrating partial seizures of infancy
ENSG00000124155	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
ENSG00000124164	Adult-onset proximal spinal muscular atrophy, autosomal dominant,Amyotrophic lateral sclerosis
ENSG00000124172	Isolated ATP synthase deficiency
ENSG00000124198	Periventricular nodular heterotopia
ENSG00000124205	Hirschsprung disease,Ondine syndrome,Waardenburg-Shah syndrome
ENSG00000124222	Pseudohypoparathyroidism type 1B
ENSG00000124253	Phosphoenolpyruvate carboxykinase deficiency
ENSG00000124275	Methylcobalamin deficiency type cblE
ENSG00000124299	Prolidase deficiency
ENSG00000124302	Peeling skin syndrome type A
ENSG00000124313	Microduplication Xp11.22-p11.23 syndrome,Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome,X-linked non-syndromic intellectual disability
ENSG00000124333	46,XY partial gonadal dysgenesis
ENSG00000124356	Microcephaly-capillary malformation syndrome
ENSG00000124370	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
ENSG00000124479	Coats disease,Familial exudative vitreoretinopathy,Norrie disease,Persistent hyperplastic primary vitreous,Retinopathy of prematurity
ENSG00000124486	X-linked non-syndromic intellectual disability
ENSG00000124491	Congenital factor XIII deficiency
ENSG00000124570	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000124587	Autosomal recessive cerebellar ataxia-blindness-deafness syndrome,Deafness-enamel hypoplasia-nail defects syndrome,Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000124608	Combined oxidative phosphorylation defect type 8,Ovarioleukodystrophy
ENSG00000124614	Blackfan-Diamond anemia
ENSG00000124615	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
ENSG00000124713	Hypermethioninemia due to glycine N-methyltransferase deficiency
ENSG00000124762	Multiple endocrine neoplasia type 1
ENSG00000124782	22q11.2 deletion syndrome
ENSG00000124788	Spinocerebellar ataxia type 1
ENSG00000124795	Acute myeloid leukemia with t(6;9)(p23;q34)
ENSG00000124813	Cleidocranial dysplasia,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
ENSG00000124827	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
ENSG00000125084	Idiopathic juvenile osteoporosis,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000125124	Bardet-Biedl syndrome,Retinitis pigmentosa
ENSG00000125351	X-linked intellectual disability with marfanoid habitus,X-linked non-syndromic intellectual disability
ENSG00000125352	Trichothiodystrophy
ENSG00000125356	Isolated complex I deficiency
ENSG00000125363	Hypomaturation amelogenesis imperfecta
ENSG00000125378	14q22q23 microdeletion syndrome,Cleft lip/palate,Microphthalmia with brain and digit anomalies,Renal agenesis, unilateral
ENSG00000125398	46,XX ovotesticular disorder of sex development,46,XX testicular disorder of sex development,46,XY complete gonadal dysgenesis,46,XY partial gonadal dysgenesis,Campomelic dysplasia,Isolated Pierre Robin syndrome
ENSG00000125414	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
ENSG00000125445	Syndromic sensorineural deafness due to combined oxidative phosphorylation deficiency
ENSG00000125454	Amish lethal microcephaly,Progressive demyelinating neuropathy with bilateral striatal necrosis
ENSG00000125505	Autosomal recessive non-syndromic intellectual disability
ENSG00000125618	Athyreosis,Differentiated thyroid carcinoma,Thyroid ectopia,Thyroid hypoplasia
ENSG00000125656	Perrault syndrome
ENSG00000125675	X-linked intellectual disability due to GRIA3 anomalies
ENSG00000125676	X-linked intellectual disability-short stature-overweight syndrome
ENSG00000125730	Atypical hemolytic-uremic syndrome with C3 anomaly,Complement component 3 deficiency
ENSG00000125741	3-methylglutaconic aciduria type 3,Autosomal dominant optic atrophy and cataract
ENSG00000125744	Autosomal dominant spastic paraplegia type 12
ENSG00000125779	Atypical pantothenate kinase-associated neurodegeneration,Classic pantothenate kinase-associated neurodegeneration
ENSG00000125780	Uncombable hair syndrome
ENSG00000125813	Otofaciocervical syndrome
ENSG00000125826	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,Polyglucosan body myopathy type 1
ENSG00000125835	Cerebro-costo-mandibular syndrome
ENSG00000125845	20p12.3 microdeletion syndrome,Brachydactyly type A2
ENSG00000125848	Kallmann syndrome
ENSG00000125850	Congenital hereditary endothelial dystrophy type I,Posterior polymorphous corneal dystrophy
ENSG00000125863	Bardet-Biedl syndrome,McKusick-Kaufman syndrome
ENSG00000125864	Early-onset nuclear cataract
ENSG00000125871	Progressive external ophthalmoplegia-myopathy-emaciation syndrome
ENSG00000125875	Micro syndrome
ENSG00000125877	ITPA-related encephalopathy,Susceptibility to adverse reaction due to mercaptopurine
ENSG00000125952	Hereditary pheochromocytoma-paraganglioma
ENSG00000125965	Acromesomelic dysplasia, Grebe type,Acromesomelic dysplasia, Hunter-Thompson type,Angel-shaped phalango-epiphyseal dysplasia,Brachydactyly type A1,Brachydactyly type A2,Brachydactyly type C,Fibular aplasia-complex brachydactyly syndrome,Multiple synostoses syndrome,Proximal symphalangism
ENSG00000126012	Syndromic X-linked intellectual disability due to JARID1C mutation
ENSG00000126088	Familial porphyria cutanea tarda,Hepatoerythropoietic porphyria
ENSG00000126091	Autosomal recessive non-syndromic intellectual disability,West syndrome
ENSG00000126218	Congenital factor X deficiency
ENSG00000126231	Cerebral sinovenous thrombosis
ENSG00000126233	Mal de Meleda
ENSG00000126267	Isolated cytochrome C oxidase deficiency
ENSG00000126351	Peripheral resistance to thyroid hormones
ENSG00000126500	Autosomal recessive spastic paraplegia type 68
ENSG00000126522	Argininosuccinic aciduria
ENSG00000126524	Idiopathic aplastic anemia,Shwachman-Diamond syndrome
ENSG00000126562	Pseudohypoaldosteronism type 2B
ENSG00000126583	Spinocerebellar ataxia type 14
ENSG00000126603	Acute megakaryoblastic leukemia without Down syndrome,Juvenile nephronophthisis
ENSG00000126705	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
ENSG00000126752	Synovial sarcoma
ENSG00000126759	Properdin deficiency
ENSG00000126778	Autosomal dominant non-syndromic sensorineural deafness type DFNA,BOR syndrome,Branchio-otic syndrome
ENSG00000126870	Jeune syndrome,Short rib-polydactyly syndrome, Verma-Naumoff type
ENSG00000126883	Acute myeloid leukemia with t(6;9)(p23;q34)
ENSG00000126895	Nephrogenic diabetes insipidus,Nephrogenic syndrome of inappropriate antidiuresis
ENSG00000126934	Cardiofaciocutaneous syndrome,Neurofibromatosis-Noonan syndrome
ENSG00000126953	Mohr-Tranebjaerg syndrome
ENSG00000126970	Intellectual disability-developmental delay-contractures syndrome
ENSG00000127241	3MC syndrome
ENSG00000127314	Kabuki syndrome
ENSG00000127415	Hurler-Scheie syndrome,Hurler syndrome,Scheie syndrome
ENSG00000127472	Familial benign flecked retina
ENSG00000127554	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
ENSG00000127616	Coffin-Siris syndrome,Familial rhabdoid tumor,Small cell carcinoma of the ovary,SMARCA4-deficient sarcoma of thorax
ENSG00000127666	Herpes simplex encephalitis
ENSG00000127838	Paroxysmal non-kinesigenic dyskinesia
ENSG00000127870	Squamous cell carcinoma of esophagus
ENSG00000127884	Leigh syndrome with leukodystrophy
ENSG00000127914	Romano-Ward syndrome
ENSG00000127922	Split hand-split foot malformation
ENSG00000127948	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
ENSG00000127980	Deafness-enamel hypoplasia-nail defects syndrome,Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000127990	Myoclonus-dystonia syndrome
ENSG00000128039	SRD5A3-CDG
ENSG00000128159	Autosomal recessive chorioretinopathy-microcephaly syndrome
ENSG00000128271	Acute encephalopathy with biphasic seizures and late reduced diffusion
ENSG00000128322	Autosomal agammaglobulinemia
ENSG00000128340	Neutrophil immunodeficiency syndrome
ENSG00000128422	Pachyonychia congenita,Sebocystomatosis
ENSG00000128513	Anaplastic oligodendroglioma,B-cell chronic lymphocytic leukemia,Familial melanoma,Oligodendroglioma
ENSG00000128567	Young-onset Parkinson disease
ENSG00000128573	7q31 microdeletion syndrome,Childhood apraxia of speech
ENSG00000128591	Distal myopathy with posterior leg and anterior hand involvement,Familial isolated restrictive cardiomyopathy,Muscle filaminopathy
ENSG00000128602	Curry-Jones syndrome
ENSG00000128604	Diffuse cutaneous systemic sclerosis,Limited cutaneous systemic sclerosis,Primary biliary cholangitis
ENSG00000128610	Kallmann syndrome
ENSG00000128617	Tritanopia
ENSG00000128655	Primary pigmented nodular adrenocortical disease
ENSG00000128656	Duane retraction syndrome
ENSG00000128683	Inherited congenital spastic tetraplegia
ENSG00000128710	Congenital vertical talus, bilateral,Congenital vertical talus, unilateral
ENSG00000128714	Brachydactyly-syndactyly, Zhao type,Brachydactyly type E,Syndactyly type 5,Synpolydactyly type 1,VACTERL/VATER association,Zygodactyly type 3
ENSG00000128731	Developmental delay with autism spectrum disorder and gait instability
ENSG00000128739	Angelman syndrome due to imprinting defect in 15q11-q13,Prader-Willi syndrome due to imprinting mutation,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,Prader-Willi syndrome due to translocation
ENSG00000128829	Heritable pulmonary arterial hypertension,Pulmonary capillary hemangiomatosis,Pulmonary venoocclusive disease
ENSG00000128881	Spinocerebellar ataxia type 11
ENSG00000128917	Adams-Oliver syndrome,Aplasia cutis congenita
ENSG00000128928	Isovaleric acidemia
ENSG00000128973	CLN4A disease,CLN6 disease
ENSG00000129003	Young-onset Parkinson disease
ENSG00000129116	Familial pancreatic carcinoma
ENSG00000129152	Fetal akinesia deformation sequence
ENSG00000129159	Progressive myoclonic epilepsy type 7
ENSG00000129170	Familial isolated dilated cardiomyopathy
ENSG00000129221	Cone rod dystrophy,Leber congenital amaurosis
ENSG00000129250	Autosomal recessive spastic paraplegia type 58
ENSG00000129255	MPDU1-CDG
ENSG00000129295	Primary ciliary dyskinesia
ENSG00000129355	Familial melanoma
ENSG00000129535	Retinitis pigmentosa
ENSG00000129667	Palmoplantar keratoderma-esophageal carcinoma syndrome
ENSG00000129675	X-linked non-syndromic intellectual disability
ENSG00000129696	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
ENSG00000129757	Beckwith-Wiedemann syndrome due to CDKN1C mutation,IMAGe syndrome,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,Silver-Russell syndrome due to a point mutation
ENSG00000129810	Chronic atrial and intestinal dysrhythmia syndrome
ENSG00000129910	Autosomal dominant non-syndromic intellectual disability
ENSG00000129991	Familial isolated dilated cardiomyopathy,Familial isolated restrictive cardiomyopathy
ENSG00000129993	Acute megakaryoblastic leukemia without Down syndrome
ENSG00000130005	Guanidinoacetate methyltransferase deficiency
ENSG00000130023	6q terminal deletion syndrome,Periventricular nodular heterotopia
ENSG00000130037	Familial atrial fibrillation
ENSG00000130066	Keratosis follicularis spinulosa decalvans
ENSG00000130158	Adams-Oliver syndrome
ENSG00000130164	Homozygous familial hypercholesterolemia
ENSG00000130175	Isolated polycystic liver disease
ENSG00000130203	Hyperlipoproteinemia type 3,Lipoprotein glomerulopathy,Sea-blue histiocytosis
ENSG00000130226	Autosomal dominant microcephaly,Idiopathic ventricular fibrillation, non Brugada type
ENSG00000130283	Congenitally uncorrected transposition of the great arteries,Ivemark syndrome,Tetralogy of Fallot
ENSG00000130294	Autosomal dominant non-syndromic intellectual disability,Autosomal spastic paraplegia type 30,Hereditary sensory and autonomic neuropathy type 2,PEHO syndrome
ENSG00000130299	Combined oxidative phosphorylation deficiency type 23
ENSG00000130347	Autosomal recessive isolated optic atrophy
ENSG00000130363	Primary ciliary dyskinesia
ENSG00000130385	46,XX gonadal dysgenesis
ENSG00000130402	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000130414	Leigh syndrome with leukodystrophy
ENSG00000130449	Acromelic frontonasal dysplasia
ENSG00000130477	Amyotrophic lateral sclerosis
ENSG00000130489	Fatal infantile cytochrome C oxidase deficiency,Leigh syndrome with cardiomyopathy,Rare isolated myopia
ENSG00000130508	Congenital cataract microcornea with corneal opacity
ENSG00000130529	Brugada syndrome,Brugada syndrome,Familial progressive cardiac conduction defect
ENSG00000130561	Congenital stationary night blindness,Oguchi disease,Retinitis pigmentosa
ENSG00000130595	Digitotalar dysmorphism,Sheldon-Hall syndrome
ENSG00000130598	Digitotalar dysmorphism,Sheldon-Hall syndrome
ENSG00000130600	Beckwith-Wiedemann syndrome due to 11p15 microdeletion,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,Isolated hemihyperplasia,Nephroblastoma,Silver-Russell syndrome due to 11p15 microduplication,Silver-Russell syndrome due to an imprinting defect of 11p15
ENSG00000130635	Ehlers-Danlos syndrome type 1,Ehlers-Danlos syndrome type 2,Ehlers-Danlos syndrome, vascular type
ENSG00000130638	Spinocerebellar ataxia type 10
ENSG00000130675	Currarino triad
ENSG00000130700	Familial atrial fibrillation,Tetralogy of Fallot
ENSG00000130703	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000130707	Acute neonatal citrullinemia type I,Adult-onset citrullinemia type I
ENSG00000130714	Autosomal recessive limb-girdle muscular dystrophy type 2K,Congenital muscular dystrophy with cerebellar involvement,Congenital muscular dystrophy with intellectual disability,Congenital muscular dystrophy without intellectual disability,Muscle-eye-brain disease,Walker-Warburg syndrome
ENSG00000130779	Autosomal recessive non-syndromic intellectual disability
ENSG00000130816	Autosomal dominant cerebellar ataxia, deafness and narcolepsy,Hereditary sensory neuropathy-deafness-dementia syndrome
ENSG00000130821	X-linked creatine transporter deficiency
ENSG00000130826	Dyskeratosis congenita,Hoyeraal-Hreidarsson syndrome
ENSG00000130921	Autosomal recessive spastic paraplegia type 55,Behr syndrome,Combined oxidative phosphorylation defect type 7
ENSG00000130948	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
ENSG00000130985	Infantile-onset X-linked spinal muscular atrophy
ENSG00000131018	Autosomal dominant Emery-Dreifuss muscular dystrophy,Autosomal recessive ataxia, Beauce type,Autosomal recessive myogenic arthrogryposis multiplex congenita
ENSG00000131055	Pancreatic insufficiency-anemia-hyperostosis syndrome
ENSG00000131080	X-linked hypohidrotic ectodermal dysplasia
ENSG00000131089	Hyperekplexia-epilepsy syndrome
ENSG00000131095	Alexander disease type I,Alexander disease type II
ENSG00000131127	Postaxial polydactyly type A, bilateral
ENSG00000131165	Pontocerebellar hypoplasia type 8
ENSG00000131174	Microphthalmia with linear skin defects syndrome
ENSG00000131183	Autosomal recessive infantile hypercalcemia,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,Primary Fanconi syndrome
ENSG00000131187	Congenital factor XII deficiency,Hereditary angioedema type 3
ENSG00000131238	CLN1 disease
ENSG00000131263	X-linked non-syndromic intellectual disability
ENSG00000131269	X-linked sideroblastic anemia and ataxia
ENSG00000131323	Herpes simplex encephalitis
ENSG00000131398	Spinocerebellar ataxia type 13
ENSG00000131470	46,XX gonadal dysgenesis
ENSG00000131482	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
ENSG00000131495	Leigh syndrome with leukodystrophy
ENSG00000131504	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000131652	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
ENSG00000131697	Juvenile nephronophthisis,Senior-Loken syndrome
ENSG00000131747	Neuroblastoma
ENSG00000131759	Acute promyelocytic leukemia
ENSG00000131779	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000131808	Isolated follicle stimulating hormone deficiency
ENSG00000131828	Leigh syndrome with leukodystrophy,Pyruvate dehydrogenase E1-alpha deficiency
ENSG00000131844	3-methylcrotonyl-CoA carboxylase deficiency
ENSG00000131873	Temtamy preaxial brachydactyly syndrome
ENSG00000131931	Primary dystonia, DYT6 type
ENSG00000131943	Autosomal recessive spastic paraplegia type 43,Mitochondrial membrane protein-associated neurodegeneration
ENSG00000131979	Autosomal dominant dopa-responsive dystonia,GTP cyclohydrolase I deficiency
ENSG00000132002	Fibrolamellar hepatocellular carcinoma
ENSG00000132024	Autosomal recessive non-syndromic intellectual disability
ENSG00000132031	Multiple epiphyseal dysplasia type 5,Spondyloepimetaphyseal dysplasia, matrilin-3 type
ENSG00000132155	Familial isolated dilated cardiomyopathy,Noonan syndrome,Noonan syndrome with multiple lentigines,Pilocytic astrocytoma
ENSG00000132170	Berardinelli-Seip congenital lipodystrophy,Differentiated thyroid carcinoma,Giant cell glioblastoma,Gliosarcoma,PPARG-related familial partial lipodystrophy
ENSG00000132326	Familial advanced sleep-phase syndrome
ENSG00000132386	Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000132437	Aromatic L-amino acid decarboxylase deficiency
ENSG00000132464	Hypoplastic amelogenesis imperfecta
ENSG00000132470	Epidermolysis bullosa simplex with pyloric atresia,Generalized junctional epidermolysis bullosa, non-Herlitz type,Junctional epidermolysis bullosa-pyloric atresia syndrome,Localized junctional epidermolysis bullosa, non-Herlitz type
ENSG00000132517	Maternal riboflavin deficiency
ENSG00000132518	Central areolar choroidal dystrophy,Cone rod dystrophy,Leber congenital amaurosis
ENSG00000132549	Cohen syndrome
ENSG00000132563	Autosomal spastic paraplegia type 72
ENSG00000132600	Short stature-brachydactyly-obesity-global developmental delay syndrome
ENSG00000132639	Presynaptic congenital myasthenic syndromes
ENSG00000132646	PCNA-related progressive neurodegenerative photosensitivy syndrome
ENSG00000132669	RIN2 syndrome
ENSG00000132716	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
ENSG00000132740	Charcot-Marie-Tooth disease type 2S,Spinal muscular atrophy with respiratory distress type 1
ENSG00000132763	Methylmalonic acidemia with homocystinuria, type cblC
ENSG00000132781	MUTYH-related attenuated familial adenomatous polyposis
ENSG00000132837	Dimethylglycine dehydrogenase deficiency
ENSG00000132842	Hermansky-Pudlak syndrome with neutropenia
ENSG00000132912	Cystic fibrosis
ENSG00000132915	Retinitis pigmentosa
ENSG00000132932	Dysequilibrium syndrome
ENSG00000132963	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
ENSG00000133019	Prune belly syndrome
ENSG00000133020	Carney complex-trismus-pseudocamptodactyly syndrome,Trismus-pseudocamptodactyly syndrome
ENSG00000133028	Fatal infantile cytochrome C oxidase deficiency
ENSG00000133059	Renal agenesis, unilateral
ENSG00000133103	COG6-CGD,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
ENSG00000133104	Autosomal recessive spastic paraplegia type 20
ENSG00000133111	Immunodeficiency by defective expression of HLA class 2
ENSG00000133116	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
ENSG00000133216	Familial prostate cancer
ENSG00000133256	Congenital stationary night blindness,Retinitis pigmentosa
ENSG00000133392	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Familial aortic dissection,Familial thoracic aortic aneurysm and aortic dissection,Megacystis-microcolon-intestinal hypoperistalsis syndrome
ENSG00000133422	Autosomal dominant Charcot-Marie-Tooth disease type 2Z
ENSG00000133424	Congenital muscular dystrophy with intellectual disability,Muscle-eye-brain disease,Walker-Warburg syndrome
ENSG00000133454	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
ENSG00000133703	Cardiofaciocutaneous syndrome,Differentiated thyroid carcinoma,Familial pancreatic carcinoma,Juvenile myelomonocytic leukemia,Linear nevus sebaceus syndrome,Lynch syndrome,Noonan syndrome,Pilocytic astrocytoma,RAS-associated autoimmune leukoproliferative disease,Selection of therapeutic option in colorectal cancer,Selection of therapeutic option in non-small cell lung carcinoma,Toriello-Lacassie-Droste syndrome
ENSG00000133706	Acute infantile liver failure-multisystemic involvement syndrome
ENSG00000133710	Netherton syndrome
ENSG00000133805	Adenosine monophosphate deaminase deficiency
ENSG00000133812	Charcot-Marie-Tooth disease type 4B2
ENSG00000133835	Bifunctional enzyme deficiency,Perrault syndrome
ENSG00000133895	Familial isolated hyperparathyroidism,Insulinoma,Multiple endocrine neoplasia type 1,Null pituitary adenoma,Prolactinoma,Silent pituitary adenoma
ENSG00000133937	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
ENSG00000134049	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
ENSG00000134086	Chuvash erythrocytosis,Hereditary pheochromocytoma-paraganglioma,Sporadic pheochromocytoma,Von Hippel-Lindau disease
ENSG00000134121	Distal monosomy 3p
ENSG00000134138	15q14 microdeletion syndrome
ENSG00000134160	Congenital stationary night blindness
ENSG00000134183	Achromatopsia,Progressive cone dystrophy
ENSG00000134200	Isolated thyroid-stimulating hormone deficiency
ENSG00000134240	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ENSG00000134242	Giant cell arteritis,Granulomatosis with polyangiitis,Oligoarticular juvenile idiopathic arthritis,Pediatric systemic lupus erythematosus,Rheumatoid factor-negative juvenile idiopathic arthritis,Vogt-Koyanagi-Harada disease
ENSG00000134250	Acroosteolysis dominant type,Alagille syndrome due to a NOTCH2 point mutation
ENSG00000134259	Hereditary sensory and autonomic neuropathy type 5
ENSG00000134262	Severe intellectual disability and progressive spastic paraplegia
ENSG00000134323	Feingold syndrome type 1,Feingold syndrome type 1,Hereditary retinoblastoma,Neuroblastoma,Non-hereditary retinoblastoma
ENSG00000134324	Genetic recurrent myoglobinuria
ENSG00000134333	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
ENSG00000134343	Cranio-cervical dystonia with laryngeal and upper-limb involvement
ENSG00000134365	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
ENSG00000134371	Familial isolated hyperparathyroidism,Hyperparathyroidism-jaw tumor syndrome,Parathyroid carcinoma,Parathyroid carcinoma
ENSG00000134376	Leber congenital amaurosis,Pigmented paravenous retinochoroidal atrophy,Retinitis pigmentosa
ENSG00000134389	Atypical hemolytic-uremic syndrome with anti-factor H antibodies,C3 glomerulonephritis
ENSG00000134438	Isolated anophthalmia-microphthalmia syndrome
ENSG00000134460	Immunodeficiency due to CD25 deficiency,Oligoarticular juvenile idiopathic arthritis,Rheumatoid factor-negative juvenile idiopathic arthritis
ENSG00000134504	Scalp-ear-nipple syndrome
ENSG00000134516	DOCK2 deficiency
ENSG00000134532	12p12.1 microdeletion syndrome,Developmental and speech delay due to SOX5 deficiency
ENSG00000134538	Rotor syndrome,Statin toxicity
ENSG00000134569	Cenani-Lenz syndrome,Postsynaptic congenital myasthenic syndromes,Sclerosteosis
ENSG00000134571	Familial isolated dilated cardiomyopathy,Left ventricular noncompaction
ENSG00000134574	Xeroderma pigmentosum
ENSG00000134595	46,XX testicular disorder of sex development,Panhypopituitarism,Septo-optic dysplasia spectrum,X-linked congenital generalized hypertrichosis,X-linked intellectual disability with isolated growth hormone deficiency
ENSG00000134684	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
ENSG00000134755	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
ENSG00000134760	Diffuse palmoplantar keratoderma with painful fissures,Focal palmoplantar keratoderma with joint keratoses,Keratosis palmoplantaris striata,Severe dermatitis-multiple allergies-metabolic wasting syndrome
ENSG00000134762	Hereditary hypotrichosis with recurrent skin vesicles
ENSG00000134769	Left ventricular noncompaction
ENSG00000134812	Congenital intrinsic factor deficiency
ENSG00000134851	TMEM165-CDG
ENSG00000134853	Chronic eosinophilic leukemia,Gastrointestinal stromal tumor,Myeloid neoplasm associated with PDGFRA rearrangement,Precursor B-cell acute lymphoblastic leukemia,Primary hypereosinophilic syndrome
ENSG00000134871	Familial porencephaly
ENSG00000134882	Beh�et disease
ENSG00000134899	COFS syndrome,Xeroderma pigmentosum,Xeroderma pigmentosum-Cockayne syndrome complex
ENSG00000134900	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
ENSG00000134910	STT3A-CDG
ENSG00000134982	APC-related attenuated familial adenomatous polyposis,Cenani-Lenz syndrome,Desmoid tumor,Familial adenomatous polyposis due to 5q22.2 microdeletion,Gardner syndrome,Gastric adenocarcinoma and proximal polyposis of the stomach,Turcot syndrome with polyposis
ENSG00000135069	Neu-Laxova syndrome,Phosphoserine aminotransferase deficiency
ENSG00000135100	Hyperinsulinism due to HNF1A deficiency,MODY
ENSG00000135111	Ulnar-mammary syndrome
ENSG00000135297	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
ENSG00000135317	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
ENSG00000135318	Hereditary arterial and articular multiple calcification syndrome
ENSG00000135338	Leber congenital amaurosis,Severe early-childhood-onset retinal dystrophy
ENSG00000135341	Cardiospondylocarpofacial syndrome,Frontometaphyseal dysplasia
ENSG00000135365	Potocki-Shaffer syndrome
ENSG00000135406	Amyotrophic lateral sclerosis
ENSG00000135409	Persistent M�llerian duct syndrome
ENSG00000135424	Congenital fiber-type disproportion myopathy,Congenital muscular dystrophy with integrin alpha-7 deficiency
ENSG00000135437	Fundus albipunctatus,Retinitis punctata albescens
ENSG00000135443	Pure hair and nail ectodermal dysplasia
ENSG00000135446	Dedifferentiated liposarcoma,Familial melanoma,Well-differentiated liposarcoma
ENSG00000135454	Autosomal recessive spastic paraplegia type 26
ENSG00000135486	Amyotrophic lateral sclerosis,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
ENSG00000135517	Cerulean cataract,Early-onset lamellar cataract,Early-onset nuclear cataract,Early-onset posterior polar cataract,Early-onset sutural cataract,Total early-onset cataract
ENSG00000135535	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000135541	Joubert syndrome,Joubert syndrome with ocular defect
ENSG00000135604	Familial hemophagocytic lymphohistiocytosis
ENSG00000135636	Autosomal recessive limb-girdle muscular dystrophy type 2B,Congenital myopathy, Paradas type,Distal myopathy with anterior tibial onset,Miyoshi myopathy
ENSG00000135677	Sanfilippo syndrome type D
ENSG00000135679	Dedifferentiated liposarcoma,Li-Fraumeni syndrome,Well-differentiated liposarcoma
ENSG00000135697	Hereditary hypercarotenemia and vitamin A deficiency
ENSG00000135744	Renal tubular dysgenesis of genetic origin
ENSG00000135766	Autosomal dominant secondary polycythemia
ENSG00000135775	COG2-CDG
ENSG00000135821	Congenital brain dysgenesis due to glutamine synthetase deficiency
ENSG00000135828	Familial prostate cancer
ENSG00000135899	Hepatic veno-occlusive disease-immunodeficiency syndrome
ENSG00000135900	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
ENSG00000135902	Lethal multiple pterygium syndrome,Postsynaptic congenital myasthenic syndromes,Postsynaptic congenital myasthenic syndromes
ENSG00000135903	Alveolar rhabdomyosarcoma,Craniofacial-deafness-hand syndrome,Waardenburg syndrome type 1,Waardenburg syndrome type 3
ENSG00000135917	Biotin-responsive basal ganglia disease,Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,Leigh syndrome with leukodystrophy,Thiamine-responsive encephalopathy
ENSG00000135924	Charcot-Marie-Tooth disease type 2T,Young adult-onset distal hereditary motor neuropathy
ENSG00000135925	Autosomal recessive hypohidrotic ectodermal dysplasia,Odonto-onycho-dermal dysplasia,Oligodontia,Sch�pf-Schulz-Passarge syndrome
ENSG00000135929	Cerebrotendinous xanthomatosis
ENSG00000135956	Clear cell renal carcinoma,Hereditary pheochromocytoma-paraganglioma
ENSG00000135960	Autosomal dominant hypohidrotic ectodermal dysplasia,Autosomal recessive hypohidrotic ectodermal dysplasia
ENSG00000136003	Hereditary myopathy with lactic acidosis due to ISCU deficiency
ENSG00000136051	Autosomal recessive non-syndromic intellectual disability
ENSG00000136068	Atelosteogenesis type I,Atelosteogenesis type III,Autosomal dominant Larsen syndrome,Boomerang dysplasia,Spondylocarpotarsal synostosis
ENSG00000136104	Aicardi-Gouti�res syndrome
ENSG00000136143	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
ENSG00000136144	Reticular dystrophy of the retinal pigment epithelium
ENSG00000136156	ABri amyloidosis,ADan amyloidosis,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
ENSG00000136159	Azathioprine or 6-mercatopurine toxicity or dose selection
ENSG00000136160	Hirschsprung disease,Waardenburg-Shah syndrome
ENSG00000136244	Systemic-onset juvenile idiopathic arthritis
ENSG00000136280	Familial cerebral cavernous malformation
ENSG00000136352	Benign familial chorea,Brain-lung-thyroid syndrome,Differentiated thyroid carcinoma
ENSG00000136425	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Usher syndrome type 1
ENSG00000136463	Leigh syndrome with leukodystrophy
ENSG00000136492	Fanconi anemia,Hereditary breast and ovarian cancer syndrome
ENSG00000136531	Benign familial infantile epilepsy,Benign familial neonatal-infantile seizures,Dravet syndrome,Early infantile epileptic encephalopathy,Generalized epilepsy with febrile seizures-plus,West syndrome
ENSG00000136535	2q24 microdeletion syndrome
ENSG00000136573	MODY
ENSG00000136574	46,XY partial gonadal dysgenesis,8p23.1 microdeletion syndrome,Atrial septal defect, ostium secundum type,Complete atrioventricular canal-Fallot tetralogy syndrome,Complete atrioventricular canal-left heart obstruction syndrome,Complete atrioventricular canal-ventricle hypoplasia syndrome,Familial atrial fibrillation,Partial atrioventricular canal,Tetralogy of Fallot
ENSG00000136631	Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ENSG00000136634	Beh�et disease,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
ENSG00000136689	Sterile multifocal osteomyelitis with periostitis and pustulosis
ENSG00000136695	Acrodermatitis continua suppurativa of Hallopeau,DITRA,Generalized pustular psoriasis,Pustulosis palmaris et plantaris
ENSG00000136698	Biliary atresia with splenic malformation syndrome,Congenitally uncorrected transposition of the great arteries,Situs ambiguus
ENSG00000136710	CCDC115-CDG
ENSG00000136717	Autosomal dominant centronuclear myopathy,Autosomal recessive centronuclear myopathy
ENSG00000136720	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000136732	Hereditary elliptocytosis
ENSG00000136802	Autosomal agammaglobulinemia
ENSG00000136827	Early-onset generalized limb-onset dystonia,Myoclonus-dystonia syndrome
ENSG00000136854	Dravet syndrome,Early infantile epileptic encephalopathy
ENSG00000136861	Autosomal recessive primary microcephaly
ENSG00000136869	Beh�et disease
ENSG00000136872	Hereditary fructose intolerance
ENSG00000136875	Retinitis pigmentosa
ENSG00000136881	Familial hypercholanemia
ENSG00000136908	Congenital muscular dystrophy with intellectual disability and severe epilepsy
ENSG00000136931	46,XX gonadal dysgenesis,46,XY complete gonadal dysgenesis,46,XY partial gonadal dysgenesis,Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000136936	Xeroderma pigmentosum
ENSG00000136944	Nail-patella syndrome
ENSG00000136997	Burkitt lymphoma,Precursor T-cell acute lymphoblastic leukemia
ENSG00000137070	Craniosynostosis and dental anomalies
ENSG00000137074	Ataxia-oculomotor apraxia type 1
ENSG00000137090	46,XY complete gonadal dysgenesis
ENSG00000137106	Primary hyperoxaluria type 2
ENSG00000137203	Branchio-oculo-facial syndrome
ENSG00000137285	Congenital fibrosis of extraocular muscles,Polymicrogyria due to TUBB2B mutation,Tubulinopathy-associated dysgyria
ENSG00000137288	Isolated CoQ-cytochrome C reductase deficiency
ENSG00000137364	Azathioprine or 6-mercatopurine toxicity or dose selection,Cisplatin toxicity
ENSG00000137411	Combined oxidative phosphorylation deficiency type 20
ENSG00000137474	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Usher syndrome type 1,Usher syndrome type 2
ENSG00000137497	Acute promyelocytic leukemia
ENSG00000137513	Combined oxidative phosphorylation deficiency type 24
ENSG00000137561	Ataxia with vitamin E deficiency
ENSG00000137563	Methotrexate toxicity or dose selection
ENSG00000137601	Short rib-polydactyly syndrome, Majewski type
ENSG00000137642	Early-onset autosomal dominant Alzheimer disease
ENSG00000137648	Autosomal recessive cerebral atrophy
ENSG00000137672	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000137674	Hypomaturation amelogenesis imperfecta
ENSG00000137693	Epithelioid hemangioendothelioma,Uveal coloboma-cleft lip and palate-intellectual disability
ENSG00000137700	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
ENSG00000137710	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000137731	Autosomal dominant primary hypomagnesemia with hypocalciuria
ENSG00000137745	Metaphyseal anadysplasia,Metaphyseal anadysplasia,Metaphyseal chondrodysplasia, Spahr type,Spondyloepimetaphyseal dysplasia, Missouri type
ENSG00000137806	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency,Isolated complex I deficiency
ENSG00000137807	Congenital dyserythropoietic anemia type III
ENSG00000137812	Autosomal recessive primary microcephaly
ENSG00000137822	Autosomal recessive chorioretinopathy-microcephaly syndrome
ENSG00000137834	Familial bicuspid aortic valve
ENSG00000137845	Reticulate acropigmentation of Kitamura
ENSG00000137868	Colobomatous microphthalmia,Matthew-Wood syndrome
ENSG00000137869	Aromatase deficiency,Aromatase excess syndrome
ENSG00000137992	Classic maple syrup urine disease,Intermediate maple syrup urine disease,Intermittent maple syrup urine disease,Thiamine-responsive maple syrup urine disease
ENSG00000138002	Bardet-Biedl syndrome,Jeune syndrome,Retinitis pigmentosa,Saldino-Mainzer syndrome
ENSG00000138029	Mitochondrial trifunctional protein deficiency
ENSG00000138030	Essential fructosuria
ENSG00000138032	2p21 microdeletion syndrome
ENSG00000138035	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Combined oxidative phosphorylation defect type 13
ENSG00000138036	Ellis Van Creveld syndrome,Jeune syndrome
ENSG00000138039	Familial male-limited precocious puberty,Leydig cell hypoplasia due to complete LH resistance,Leydig cell hypoplasia due to partial LH resistance
ENSG00000138061	Congenital glaucoma,Juvenile glaucoma,Peters anomaly
ENSG00000138075	Sitosterolemia
ENSG00000138078	2p21 microdeletion syndrome,2p21 microdeletion syndrome without cystinuria,Atypical hypotonia-cystinuria syndrome,Hypotonia-cystinuria syndrome
ENSG00000138079	2p21 microdeletion syndrome,Atypical hypotonia-cystinuria syndrome,Cystinuria type A,Hypotonia-cystinuria syndrome
ENSG00000138083	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Schizencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000138095	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
ENSG00000138109	Oral antidiabetic drugs toxicity or dose selection,Vitamin K antagonists toxicity or dose selection
ENSG00000138160	Microcephaly-lymphedema-chorioretinopathy syndrome
ENSG00000138185	Autosomal recessive spastic paraplegia type 64
ENSG00000138193	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
ENSG00000138207	Colobomatous microphthalmia,Progressive retinal dystrophy due to retinol transport defect
ENSG00000138246	Hereditary late-onset Parkinson disease
ENSG00000138311	Narcolepsy-cataplexy syndrome,Narcolepsy without cataplexy
ENSG00000138326	Blackfan-Diamond anemia
ENSG00000138346	Mitochondrial DNA deletion syndrome with progressive myopathy
ENSG00000138347	Familial isolated dilated cardiomyopathy,Familial isolated restrictive cardiomyopathy
ENSG00000138363	AICA-ribosiduria
ENSG00000138375	Schimke immuno-osseous dysplasia
ENSG00000138376	Hereditary breast and ovarian cancer syndrome
ENSG00000138378	Beh�et disease,Oligoarticular juvenile idiopathic arthritis,Pediatric systemic lupus erythematosus,Rheumatoid factor-negative juvenile idiopathic arthritis
ENSG00000138379	Myostatin-related muscle hypertrophy
ENSG00000138413	Enchondromatosis,Giant cell glioblastoma,Gliosarcoma,Maffucci syndrome,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
ENSG00000138435	Lethal multiple pterygium syndrome,Postsynaptic congenital myasthenic syndromes,Postsynaptic congenital myasthenic syndromes
ENSG00000138449	Hemochromatosis type 4,Hemochromatosis type 4
ENSG00000138592	Autosomal recessive spastic paraplegia type 59,Cushing disease
ENSG00000138622	Brugada syndrome,Familial sick sinus syndrome
ENSG00000138639	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000138640	Idiopathic pulmonary fibrosis
ENSG00000138675	Familial isolated trichomegaly
ENSG00000138684	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
ENSG00000138686	Bardet-Biedl syndrome
ENSG00000138696	Acromesomelic dysplasia, Grebe type,Brachydactyly type A1,Brachydactyly type A2,Brachydactyly type C,Fibular aplasia-complex brachydactyly syndrome
ENSG00000138738	Brittle cornea syndrome
ENSG00000138741	Spinocerebellar ataxia type 41
ENSG00000138759	Fraser syndrome,Renal agenesis, unilateral
ENSG00000138760	Action myoclonus-renal failure syndrome,Gaucher disease type 1,Unverricht-Lundborg disease
ENSG00000138778	Seckel syndrome
ENSG00000138796	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
ENSG00000138798	Adult hepatocellular carcinoma,Familial primary hypomagnesemia with normocalciuria and normocalcemia
ENSG00000138821	SLC39A8-CDG
ENSG00000138823	Abetalipoproteinemia
ENSG00000138829	Congenital contractural arachnodactyly
ENSG00000139053	Achromatopsia
ENSG00000139083	Chronic myelomonocytic leukemia,Congenital mesoblastic nephroma,Differentiated thyroid carcinoma,Fibrosarcoma,Precursor B-cell acute lymphoblastic leukemia,Primary hypereosinophilic syndrome
ENSG00000139116	Congenital fibrosis of extraocular muscles
ENSG00000139131	Mitochondrial myopathy and sideroblastic anemia
ENSG00000139132	Charcot-Marie-Tooth disease type 4H
ENSG00000139174	Unverricht-Lundborg disease
ENSG00000139180	Leigh syndrome with leukodystrophy
ENSG00000139190	Autosomal dominant spastic ataxia type 1
ENSG00000139193	Autosomal recessive lymphoproliferative disease
ENSG00000139197	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Rhizomelic chondrodysplasia punctata type 5,Zellweger syndrome
ENSG00000139219	Achondrogenesis type 2,Autosomal dominant rhegmatogenous retinal detachment,Czech dysplasia, metatarsal type,Dysspondyloenchondromatosis,Familial avascular necrosis of femoral head,Hypochondrogenesis,Kniest dysplasia,Legg-Calv�-Perthes disease,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,Multiple epiphyseal dysplasia, Beighton type,Platyspondylic dysplasia, Torrance type,Spondyloepimetaphyseal dysplasia congenita, Strudwick type,Spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Spondylometaphyseal dysplasia, 'corner fracture' type,Spondylometaphyseal dysplasia, Schmidt type,Spondyloperipheral dysplasia-short ulna syndrome,Stickler syndrome type 1,Weissenbacher- Zweymuller syndrome
ENSG00000139304	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000139318	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000139323	Cone rod dystrophy
ENSG00000139330	Congenital cornea plana
ENSG00000139351	Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000139352	Haddad syndrome
ENSG00000139428	Vitamin B12-responsive methylmalonic acidemia type cblB
ENSG00000139515	MODY,Partial pancreatic agenesis,Permanent neonatal diabetes mellitus
ENSG00000139531	Isolated sulfite oxidase deficiency
ENSG00000139537	Primary ciliary dyskinesia
ENSG00000139549	46,XY complete gonadal dysgenesis,46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
ENSG00000139567	Hereditary hemorrhagic telangiectasia,Heritable pulmonary arterial hypertension
ENSG00000139618	Familial pancreatic carcinoma,Familial prostate cancer,Fanconi anemia,Hereditary breast and ovarian cancer syndrome,Hereditary breast cancer,Hereditary site-specific ovarian cancer syndrome,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
ENSG00000139648	Woolly hair
ENSG00000139679	Hypotrichosis simplex,Woolly hair
ENSG00000139687	Hereditary retinoblastoma,Monosomy 13q14,Non-hereditary retinoblastoma,Small cell lung cancer
ENSG00000139734	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000139988	Leber congenital amaurosis,Retinitis pigmentosa
ENSG00000140009	Familial medullary thyroid carcinoma
ENSG00000140090	Hypocalcified amelogenesis imperfecta,Hypomaturation amelogenesis imperfecta
ENSG00000140092	Autosomal dominant cutis laxa,Autosomal recessive cutis laxa type 1,Hereditary sensorimotor neuropathy with hyperelastic skin
ENSG00000140199	Corpus callosum agenesis-neuronopathy syndrome
ENSG00000140262	Extraskeletal myxoid chondrosarcoma,Isolated brachycephaly,Isolated plagiocephaly
ENSG00000140274	Familial thyroid dyshormonogenesis
ENSG00000140279	Familial thyroid dyshormonogenesis,Genetic transient congenital hypothyroidism
ENSG00000140326	Congenital dyserythropoietic anemia type I
ENSG00000140368	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
ENSG00000140374	Multiple acyl-CoA dehydrogenation deficiency, mild type,Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
ENSG00000140416	Familial isolated dilated cardiomyopathy,Left ventricular noncompaction
ENSG00000140443	Growth delay due to insulin-like growth factor I resistance
ENSG00000140459	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome,Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
ENSG00000140463	Bardet-Biedl syndrome
ENSG00000140464	Acute promyelocytic leukemia
ENSG00000140470	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
ENSG00000140471	Autosomal recessive non-syndromic intellectual disability
ENSG00000140505	Toxicity or absent response to clozapine
ENSG00000140521	Alpers-Huttenlocher syndrome,Autosomal dominant progressive external ophthalmoplegia,Autosomal recessive progressive external ophthalmoplegia,Mitochondrial neurogastrointestinal encephalomyopathy,Recessive mitochondrial ataxia syndrome,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,Spinocerebellar ataxia with epilepsy
ENSG00000140522	Bothnia retinal dystrophy,Fundus albipunctatus,Retinitis pigmentosa,Retinitis punctata albescens
ENSG00000140525	Fanconi anemia
ENSG00000140538	Congenital mesoblastic nephroma,Differentiated thyroid carcinoma,Fibrosarcoma
ENSG00000140563	Distal monosomy 15q
ENSG00000140623	Non-syndromic male infertility due to sperm motility disorder
ENSG00000140650	PMM2-CDG
ENSG00000140675	Familial renal glucosuria
ENSG00000140691	Cushing syndrome due to macronodular adrenal hyperplasia
ENSG00000140694	Dyskeratosis congenita,Hoyeraal-Hreidarsson syndrome,Idiopathic pulmonary fibrosis
ENSG00000140718	Lethal polymalformative syndrome, Boissel type
ENSG00000140740	Isolated CoQ-cytochrome C reductase deficiency
ENSG00000140854	Microlissencephaly
ENSG00000140873	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
ENSG00000140905	Atypical glycine encephalopathy,Infantile glycine encephalopathy,Neonatal glycine encephalopathy
ENSG00000140939	Familial cortical myoclonus
ENSG00000140968	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
ENSG00000141012	Mucopolysaccharidosis type 4A
ENSG00000141013	Primary ciliary dyskinesia
ENSG00000141076	Hereditary North American Indian childhood cirrhosis
ENSG00000141161	Early-onset nuclear cataract,Early-onset posterior subcapsular cataract
ENSG00000141252	Progressive cerebello-cerebral atrophy
ENSG00000141349	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
ENSG00000141367	Inflammatory myofibroblastic tumor,MiT family translocation renal cell carcinoma
ENSG00000141378	Infantile multisystem neurologic-endocrine-pancreatic disease
ENSG00000141380	Synovial sarcoma
ENSG00000141384	Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000141385	Early-onset spastic ataxia-neuropathy syndrome,Spinocerebellar ataxia type 28
ENSG00000141404	Autosomal dominant focal dystonia, DYT25
ENSG00000141431	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
ENSG00000141448	Atrial septal defect, ostium secundum type,Complete atrioventricular canal-ventricle hypoplasia syndrome,Congenital diaphragmatic hernia,Familial atrial fibrillation,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,Partial atrioventricular canal,Tetralogy of Fallot
ENSG00000141458	Niemann-Pick disease type C, adult neurologic onset,Niemann-Pick disease type C, juvenile neurologic onset,Niemann-Pick disease type C, late infantile neurologic onset,Niemann-Pick disease type C, severe early infantile neurologic onset,Niemann-Pick disease type C, severe perinatal form
ENSG00000141485	Undetermined early-onset epileptic encephalopathy
ENSG00000141497	Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000141499	Dyskeratosis congenita
ENSG00000141506	Spinocerebellar ataxia with axonal neuropathy type 2
ENSG00000141510	Adrenocortical carcinoma,B-cell chronic lymphocytic leukemia,Choroid plexus carcinoma,Essential thrombocythemia,Familial pancreatic carcinoma,Giant cell glioblastoma,Gliosarcoma,Hereditary breast and ovarian cancer syndrome,Li-Fraumeni syndrome,Papilloma of choroid plexus,Precursor B-cell acute lymphoblastic leukemia,Small cell lung cancer
ENSG00000141519	Primary ciliary dyskinesia
ENSG00000141522	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
ENSG00000141524	Epidermodysplasia verruciformis
ENSG00000141527	Pityriasis rubra pilaris
ENSG00000141543	Richieri Costa-Pereira syndrome
ENSG00000141551	Familial advanced sleep-phase syndrome
ENSG00000141579	Seborrhea-like dermatitis with psoriasiform elements
ENSG00000141627	Dyggve-Melchior-Clausen disease,Smith-McCort dysplasia
ENSG00000141646	Familial pancreatic carcinoma,Generalized juvenile polyposis/juvenile polyposis coli,Hereditary hemorrhagic telangiectasia,Myhre syndrome
ENSG00000141655	Adult-onset myasthenia gravis,Familial expansile osteolysis,Osteopetrosis-hypogammaglobulinemia syndrome
ENSG00000141756	Arthrogryposis-like syndrome,Bruck syndrome,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000141759	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
ENSG00000141837	Alternating hemiplegia of childhood,Benign paroxysmal torticollis of infancy,Familial or sporadic hemiplegic migraine,Familial paroxysmal ataxia,Spinocerebellar ataxia type 6,Undetermined early-onset epileptic encephalopathy
ENSG00000141867	NUT midline carcinoma
ENSG00000142002	Idiopathic pulmonary fibrosis
ENSG00000142156	Bethlem myopathy,Congenital muscular dystrophy, Ullrich type
ENSG00000142168	Amyotrophic lateral sclerosis
ENSG00000142173	Bethlem myopathy,Congenital muscular dystrophy, Ullrich type,Myosclerosis
ENSG00000142178	Early infantile epileptic encephalopathy,Early myoclonic encephalopathy,West syndrome
ENSG00000142186	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
ENSG00000142192	ABetaA21G amyloidosis,ABeta amyloidosis, Arctic type,ABeta amyloidosis, Dutch type,ABeta amyloidosis, Iowa type,ABeta amyloidosis, Italian type,ABetaL34V amyloidosis,Early-onset autosomal dominant Alzheimer disease
ENSG00000142208	Cowden syndrome,Proteus syndrome
ENSG00000142303	Weill-Marchesani syndrome
ENSG00000142319	Infantile dystonia-parkinsonism
ENSG00000142405	NLRP12-associated hereditary periodic fever syndrome
ENSG00000142599	1p36 deletion syndrome
ENSG00000142606	Primary biliary cholangitis
ENSG00000142611	1p36 deletion syndrome,Familial isolated dilated cardiomyopathy,Left ventricular noncompaction
ENSG00000142619	Uncombable hair syndrome
ENSG00000142627	Early-onset nuclear cataract,Early-onset posterior polar cataract,Early-onset posterior subcapsular cataract,Total early-onset cataract
ENSG00000142655	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000142676	Blackfan-Diamond anemia
ENSG00000142687	Limited cutaneous systemic sclerosis
ENSG00000142731	Seckel syndrome
ENSG00000142733	Hereditary diffuse gastric cancer
ENSG00000142748	Immunodeficiency due to ficolin3 deficiency
ENSG00000142798	Dyssegmental dysplasia, Silverman-Handmaker type,Schwartz-Jampel syndrome
ENSG00000142867	MALT lymphoma
ENSG00000142949	Isolated congenital breast hypoplasia/aplasia
ENSG00000143061	Familial congenital nasolacrimal duct obstruction
ENSG00000143147	Pituitary stalk interruption syndrome
ENSG00000143156	Situs inversus totalis
ENSG00000143178	Congenital isolated ACTH deficiency
ENSG00000143183	Cerebro-facio-thoracic dysplasia
ENSG00000143199	Idiopathic hypercalciuria
ENSG00000143217	Ectodermal dysplasia-syndactyly syndrome
ENSG00000143224	Porphyria variegata
ENSG00000143252	Carney-Stratakis syndrome,Cowden syndrome,Gastrointestinal stromal tumor,Hereditary pheochromocytoma-paraganglioma
ENSG00000143278	Congenital factor XIII deficiency
ENSG00000143294	MiT family translocation renal cell carcinoma
ENSG00000143315	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
ENSG00000143318	Myopathy due to calsequestrin and SERCA1 protein overload
ENSG00000143324	Bilateral striopallidodentate calcinosis
ENSG00000143337	Autosomal recessive limb-girdle muscular dystrophy type 2Y
ENSG00000143368	Nager syndrome
ENSG00000143369	Lipoid proteinosis
ENSG00000143374	Combined oxidative phosphorylation deficiency type 21
ENSG00000143382	Isolated ectopia lentis
ENSG00000143387	Pycnodysostosis
ENSG00000143390	Immunodeficiency by defective expression of HLA class 2
ENSG00000143442	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
ENSG00000143469	Autosomal recessive cerebellar ataxia-psychomotor retardation syndrome
ENSG00000143473	Temple-Baraitser syndrome,Zimmermann-Laband syndrome
ENSG00000143549	Cap myopathy,Childhood-onset nemaline myopathy,Congenital fiber-type disproportion myopathy,Congenital generalized hypercontractile muscle stiffness syndrome,Inflammatory myofibroblastic tumor,Intermediate nemaline myopathy
ENSG00000143575	Kostmann syndrome
ENSG00000143614	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
ENSG00000143622	Noonan syndrome
ENSG00000143627	Hemolytic anemia due to red cell pyruvate kinase deficiency
ENSG00000143632	Childhood-onset nemaline myopathy,Congenital fiber-type disproportion myopathy,Congenital myopathy with excess of thin filaments,Intermediate nemaline myopathy,Progressive scapulohumeroperoneal distal myopathy,Rigid spine syndrome,Severe congenital nemaline myopathy,Typical nemaline myopathy,Zebra body myopathy
ENSG00000143669	Attenuated Ch�diak-Higashi syndrome,Ch�diak-Higashi syndrome
ENSG00000143768	Situs ambiguus
ENSG00000143801	Early-onset autosomal dominant Alzheimer disease,Familial isolated dilated cardiomyopathy
ENSG00000143815	Greenberg dysplasia,Regressive spondylometaphyseal dysplasia,Reynolds syndrome
ENSG00000143819	Familial hypercholanemia
ENSG00000143839	Hyperuricemia-anemia-renal failure syndrome,Renal tubular dysgenesis of genetic origin
ENSG00000143858	Presynaptic congenital myasthenic syndromes
ENSG00000143919	2p21 microdeletion syndrome,2p21 microdeletion syndrome without cystinuria,Atypical hypotonia-cystinuria syndrome
ENSG00000143921	Sitosterolemia
ENSG00000143924	Selection of therapeutic option in non-small cell lung carcinoma
ENSG00000143933	Catecholaminergic polymorphic ventricular tachycardia,Romano-Ward syndrome
ENSG00000143951	Bardet-Biedl syndrome,Heart defect-tongue hamartoma-polysyndactyly syndrome,Meckel syndrome
ENSG00000144028	Retinitis pigmentosa
ENSG00000144061	Bardet-Biedl syndrome,Joubert syndrome with renal defect,Juvenile nephronophthisis,Senior-Loken syndrome
ENSG00000144182	Leigh syndrome with leukodystrophy,Lipoyl transferase 1 deficiency
ENSG00000144191	Achromatopsia,Cone rod dystrophy
ENSG00000144285	Dravet syndrome,Familial or sporadic hemiplegic migraine,Generalized epilepsy with febrile seizures-plus,Lennox-Gastaut syndrome,Malignant migrating partial seizures of infancy
ENSG00000144354	ICF syndrome
ENSG00000144381	Autosomal dominant spastic paraplegia type 13,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
ENSG00000144406	Hypotonia-speech impairment-severe cognitive delay syndrome
ENSG00000144452	Congenital non-bullous ichthyosiform erythroderma,Harlequin ichthyosis,Lamellar ichthyosis
ENSG00000144455	Multiple sulfatase deficiency
ENSG00000144535	Nephroblastoma,Perlman syndrome
ENSG00000144554	Fanconi anemia
ENSG00000144591	Triple A syndrome
ENSG00000144619	Distal monosomy 3p
ENSG00000144647	Walker-Warburg syndrome
ENSG00000144659	Autosomal recessive sideroblastic anemia
ENSG00000144730	Kallmann syndrome
ENSG00000144741	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
ENSG00000144891	Renal tubular dysgenesis of genetic origin
ENSG00000144962	Male infertility due to globozoospermia
ENSG00000145016	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
ENSG00000145020	Atypical glycine encephalopathy,Infantile glycine encephalopathy,Neonatal glycine encephalopathy
ENSG00000145075	Primary ciliary dyskinesia
ENSG00000145103	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000145191	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000145216	Acute promyelocytic leukemia,Chronic eosinophilic leukemia,Primary hypereosinophilic syndrome
ENSG00000145244	Preeclampsia
ENSG00000145331	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
ENSG00000145335	Hereditary late-onset Parkinson disease,Parkinsonian-pyramidal syndrome,Young-onset Parkinson disease
ENSG00000145354	Wolfram syndrome
ENSG00000145362	Romano-Ward syndrome
ENSG00000145375	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
ENSG00000145476	Bietti crystalline dystrophy
ENSG00000145494	Isolated complex I deficiency
ENSG00000145623	Familial primary localized cutaneous amyloidosis
ENSG00000145675	Activated PI3K-delta syndrome,Autosomal agammaglobulinemia,SHORT syndrome
ENSG00000145715	Capillary malformation-arteriovenous malformation syndrome,Parkes Weber syndrome
ENSG00000145794	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
ENSG00000145868	Distal hereditary motor neuropathy type 2
ENSG00000145888	Hereditary hyperekplexia
ENSG00000145912	Dyskeratosis congenita
ENSG00000145979	Isolated megalencephaly
ENSG00000145982	Autosomal recessive spastic paraplegia type 77,Combined oxidative phosphorylation defect type 14
ENSG00000146021	Pseudohypoaldosteronism type 2D
ENSG00000146038	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Senior-Boichis syndrome
ENSG00000146085	Vitamin B12-unresponsive methylmalonic acidemia type mut-,Vitamin B12-unresponsive methylmalonic acidemia type mut0
ENSG00000146282	Pontocerebellar hypoplasia type 1,Pontocerebellar hypoplasia type 6
ENSG00000146648	Giant cell glioblastoma,Gliosarcoma,Neonatal inflammatory skin and bowel disease,Selection of therapeutic option in non-small cell lung carcinoma
ENSG00000146733	3-phosphoserine phosphatase deficiency
ENSG00000147044	Early infantile epileptic encephalopathy,X-linked intellectual disability, Najm type
ENSG00000147050	Kabuki syndrome
ENSG00000147099	Cornelia de Lange syndrome,Wilson-Turner syndrome
ENSG00000147100	Allan-Herndon-Dudley syndrome
ENSG00000147123	Microphthalmia with linear skin defects syndrome
ENSG00000147124	X-linked non-syndromic intellectual disability
ENSG00000147133	X-linked dystonia-parkinsonism
ENSG00000147140	Macrocephaly-intellectual disability-left ventricular non compaction syndrome,MiT family translocation renal cell carcinoma
ENSG00000147145	Differentiated thyroid carcinoma
ENSG00000147155	Digital anomalies-intellectual disability-short stature syndrome,MEND syndrome,X-linked dominant chondrodysplasia punctata
ENSG00000147168	Omenn syndrome,T-B+ severe combined immunodeficiency due to gamma chain deficiency
ENSG00000147180	X-linked non-syndromic intellectual disability
ENSG00000147224	Lethal ataxia with deafness and optic atrophy,Mild phosphoribosylpyrophosphate synthetase superactivity,Severe phosphoribosylpyrophosphate synthetase superactivity,X-linked Charcot-Marie-Tooth disease type 5,X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,X-linked non-syndromic sensorineural deafness type DFN
ENSG00000147255	X-linked central congenital hypothyroidism with late-onset testicular enlargement
ENSG00000147257	Simpson-Golabi-Behmel syndrome
ENSG00000147316	Autosomal recessive primary microcephaly,Premature chromosome condensation with microcephaly and intellectual disability
ENSG00000147383	CHILD syndrome,CK syndrome
ENSG00000147403	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
ENSG00000147416	Autosomal dominant deafness-onychodystrophy syndrome,Zimmermann-Laband syndrome
ENSG00000147437	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000147465	Classic congenital lipoid adrenal hyperplasia due to STAR deficency,Familial glucocorticoid deficiency,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
ENSG00000147475	Autosomal recessive spastic paraplegia type 18,Juvenile primary lateral sclerosis,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
ENSG00000147526	Giant cell glioblastoma,Gliosarcoma
ENSG00000147571	Autosomal dominant nocturnal frontal lobe epilepsy
ENSG00000147588	PMP2-related Charcot-Marie-Tooth disease type 1
ENSG00000147647	Dihydropyrimidinuria
ENSG00000147684	Isolated complex I deficiency
ENSG00000147804	Acrodermatitis enteropathica
ENSG00000147852	Dysequilibrium syndrome
ENSG00000147883	Familial melanoma,Multiple endocrine neoplasia type 1
ENSG00000147889	Familial atypical multiple mole melanoma syndrome,Familial melanoma,Familial pancreatic carcinoma,Melanoma and neural system tumor syndrome,Precursor B-cell acute lymphoblastic leukemia,Precursor T-cell acute lymphoblastic leukemia
ENSG00000147894	Amyotrophic lateral sclerosis,Behavioral variant of frontotemporal dementia,Frontotemporal dementia with motor neuron disease,Huntington disease-like syndrome due to C9ORF72 expansions,Progressive non-fluent aphasia,Semantic dementia
ENSG00000147955	Distal hereditary motor neuropathy, Jerash type,Juvenile amyotrophic lateral sclerosis
ENSG00000148053	Pilocytic astrocytoma
ENSG00000148090	3-methylglutaconic aciduria type 1
ENSG00000148180	AGel amyloidosis
ENSG00000148204	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Ventriculomegaly-cystic kidney disease
ENSG00000148218	Porphyria due to ALA dehydratase deficiency
ENSG00000148290	Leigh syndrome with cardiomyopathy,Leigh syndrome with leukodystrophy,SURF1-related Charcot-Marie-Tooth disease type 4
ENSG00000148356	Charcot-Marie-Tooth disease type 2P
ENSG00000148384	Joubert syndrome,Joubert syndrome with hepatic defect,Joubert syndrome with ocular defect,MORM syndrome
ENSG00000148400	Adams-Oliver syndrome,Familial bicuspid aortic valve
ENSG00000148459	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
ENSG00000148516	Fuchs endothelial corneal dystrophy,Posterior polymorphous corneal dystrophy
ENSG00000148600	Cone rod dystrophy,Retinitis pigmentosa
ENSG00000148604	Retinitis pigmentosa
ENSG00000148606	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,Odontoleukodystrophy,Tremor-ataxia-central hypomyelination syndrome
ENSG00000148655	Oculocutaneous albinism type 7
ENSG00000148672	Hyperinsulinism-hyperammonemia syndrome
ENSG00000148677	Familial isolated dilated cardiomyopathy
ENSG00000148700	Inherited congenital spastic tetraplegia
ENSG00000148702	Familial papillary or follicular thyroid carcinoma
ENSG00000148795	46,XY disorder of sex development due to isolated 17,20-lyase deficiency,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
ENSG00000148842	Familial primary hypomagnesemia with normocalciuria and normocalcemia
ENSG00000148985	Hyperphosphatasia-intellectual disability syndrome
ENSG00000149131	C1 inhibitor deficiency,Hereditary angioedema type 1,Hereditary angioedema type 2
ENSG00000149257	Osteogenesis imperfecta type 3
ENSG00000149260	Autosomal dominant neovascular inflammatory vitreoretinopathy
ENSG00000149295	Myoclonus-dystonia syndrome
ENSG00000149311	Ataxia-telangiectasia,Ataxia-telangiectasia variant,B-cell chronic lymphocytic leukemia,Combined cervical dystonia,Mantle cell lymphoma
ENSG00000149418	Ichthyosis-hypotrichosis syndrome
ENSG00000149483	Joubert syndrome with oculorenal defect
ENSG00000149489	Retinitis pigmentosa
ENSG00000149506	Female infertility due to zona pellucida defect
ENSG00000149541	Larsen-like syndrome, B3GAT3 type
ENSG00000149571	Autosomal dominant non-syndromic intellectual disability
ENSG00000149575	Familial atrial fibrillation
ENSG00000149781	Leukocyte adhesion deficiency type III
ENSG00000149922	Autosomal dominant spondylocostal dysostosis
ENSG00000149925	Glycogen storage disease due to aldolase A deficiency
ENSG00000149948	12q14 microdeletion syndrome,Dedifferentiated liposarcoma,Pleomorphic salivary gland adenoma,Well-differentiated liposarcoma
ENSG00000149970	Undetermined early-onset epileptic encephalopathy,X-linked non-syndromic intellectual disability
ENSG00000150275	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Usher syndrome type 1
ENSG00000150540	Autosomal recessive non-syndromic intellectual disability
ENSG00000150630	Milroy disease
ENSG00000150753	Hereditary sensory and autonomic neuropathy with spastic paraplegia
ENSG00000150768	Pyruvate dehydrogenase E2 deficiency
ENSG00000150787	6-pyruvoyl-tetrahydropterin synthase deficiency
ENSG00000150867	Precursor B-cell acute lymphoblastic leukemia
ENSG00000150893	Fraser syndrome,Renal agenesis, unilateral
ENSG00000150907	Alveolar rhabdomyosarcoma
ENSG00000150938	Colobomatous macrophthalmia-microcornea syndrome
ENSG00000150961	Cole-Carpenter syndrome
ENSG00000150995	Aniridia-cerebellar ataxia-intellectual disability syndrome,Spinocerebellar ataxia type 15/16,Spinocerebellar ataxia type 29
ENSG00000151062	Cone rod dystrophy,Congenital stationary night blindness
ENSG00000151067	Brugada syndrome,Timothy syndrome
ENSG00000151090	Generalized resistance to thyroid hormone,Peripheral resistance to thyroid hormones,Selective pituitary resistance to thyroid hormone
ENSG00000151092	Alacrimia-choreoathetosis-liver dysfunction syndrome
ENSG00000151148	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency,Oculocerebrofacial syndrome, Kaufman type
ENSG00000151150	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
ENSG00000151151	Hereditary neuroendocrine tumor of small intestine
ENSG00000151224	Brain demyelination due to methionine adenosyltransferase deficiency
ENSG00000151348	Multiple osteochondromas,Potocki-Shaffer syndrome,Seizures-scoliosis-macrocephaly syndrome
ENSG00000151413	Isolated complex I deficiency
ENSG00000151445	Arthrogryposis-renal dysfunction-cholestasis syndrome
ENSG00000151474	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
ENSG00000151490	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation,Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
ENSG00000151491	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000151498	Isobutyryl-CoA dehydrogenase deficiency
ENSG00000151552	Dihydropteridine reductase deficiency
ENSG00000151611	Vitamin B12-responsive methylmalonic acidemia type cblA
ENSG00000151617	Mandibulofacial dysostosis with alopecia
ENSG00000151623	Pseudohyperaldosteronism type 2,Renal pseudohypoaldosteronism type 1
ENSG00000151632	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
ENSG00000151694	Neonatal inflammatory skin and bowel disease
ENSG00000151702	Ewing sarcoma,Extraskeletal Ewing sarcoma,Isolated delta-storage pool disease,Jacobsen syndrome,Paris-Trousseau thrombocytopenia,Peripheral primitive neuroectodermal tumor
ENSG00000151704	Antenatal Bartter syndrome
ENSG00000151729	Autosomal dominant progressive external ophthalmoplegia,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
ENSG00000151779	Fever-associated acute infantile liver failure syndrome,Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome
ENSG00000151806	West syndrome
ENSG00000151835	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ENSG00000151849	Autosomal recessive primary microcephaly,Seckel syndrome
ENSG00000151914	Epidermolysis bullosa simplex due to BP230 deficiency,Hereditary sensory and autonomic neuropathy type 6
ENSG00000151929	Familial isolated dilated cardiomyopathy,Muscular dystrophy, Selcen type
ENSG00000152056	Acrodermatitis continua suppurativa of Hallopeau,Generalized pustular psoriasis,Pustulosis palmaris et plantaris
ENSG00000152104	Lymphedema-posterior choanal atresia syndrome
ENSG00000152137	Autosomal dominant Charcot-Marie-Tooth disease type 2L,Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,Distal hereditary motor neuropathy type 2
ENSG00000152207	Uveal melanoma
ENSG00000152208	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
ENSG00000152213	B-cell chronic lymphocytic leukemia
ENSG00000152217	Intellectual disability-expressive aphasia-facial dysmorphism syndrome,Schinzel-Giedion syndrome
ENSG00000152223	Vici syndrome
ENSG00000152234	Isolated ATP synthase deficiency
ENSG00000152266	Familial isolated hypoparathyroidism due to impaired PTH secretion
ENSG00000152422	LIG4 syndrome,Microcephalic primordial dwarfism-insulin resistance syndrome
ENSG00000152457	Omenn syndrome,Severe combined immunodeficiency due to DCLRE1C deficiency
ENSG00000152492	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000152556	Glycogen storage disease due to muscle phosphofructokinase deficiency
ENSG00000152591	Dentin dysplasia type I,Dentin dysplasia type II,Dentinogenesis imperfecta type 2,Dentinogenesis imperfecta type 3
ENSG00000152592	Autosomal recessive hypophosphatemic rickets
ENSG00000152620	Progressive encephalopathy with leukodystrophy due to DECR deficiency
ENSG00000152642	Brugada syndrome
ENSG00000152661	Autosomal dominant palmoplantar keratoderma and congenital alopecia,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Craniometaphyseal dysplasia,Erythrokeratodermia variabilis,Hypoplastic left heart syndrome,Oculodentodigital dysplasia,Syndactyly type 3
ENSG00000152669	Primary ciliary dyskinesia
ENSG00000152700	Chylomicron retention disease
ENSG00000152779	Juvenile cataract-microcornea-renal glucosuria syndrome
ENSG00000152784	Early-onset Lafora body disease
ENSG00000152795	Autosomal dominant limb-girdle muscular dystrophy type 1G
ENSG00000152822	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,Chondromyxoid fibroma
ENSG00000152939	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000152952	Bruck syndrome
ENSG00000152977	Isolated brachycephaly,Isolated Dandy-Walker malformation with hydrocephalus,Isolated Dandy-Walker malformation without hydrocephalus,Isolated oxycephaly,Isolated plagiocephaly
ENSG00000153113	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
ENSG00000153147	Extraskeletal Ewing sarcoma
ENSG00000153162	Hemochromatosis type 5
ENSG00000153201	Acute necrotizing encephalopathy of childhood,Familial acute necrotizing encephalopathy,Inflammatory myofibroblastic tumor
ENSG00000153208	Retinitis pigmentosa
ENSG00000153283	C syndrome
ENSG00000153487	Squamous cell carcinoma of head and neck
ENSG00000153563	Susceptibility to respiratory infections associated with CD8alpha chain mutation
ENSG00000153574	Ribose-5-P isomerase deficiency
ENSG00000153814	Endometrial stromal sarcoma
ENSG00000153933	Atypical hemolytic-uremic syndrome with DGKE deficiency,Immunoglobulin-mediated membranoproliferative glomerulonephritis
ENSG00000153956	Brugada syndrome,Familial short QT syndrome
ENSG00000153993	Hirschsprung disease
ENSG00000154099	Primary ciliary dyskinesia
ENSG00000154118	Huntington disease-like 2
ENSG00000154122	Craniometaphyseal dysplasia,Familial calcium pyrophosphate deposition
ENSG00000154134	Horizontal gaze palsy with progressive scoliosis
ENSG00000154153	Hereditary sensory and autonomic neuropathy type 2
ENSG00000154227	Congenital non-bullous ichthyosiform erythroderma,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
ENSG00000154265	Gingival fibromatosis-hypertrichosis syndrome
ENSG00000154277	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,Young-onset Parkinson disease
ENSG00000154309	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000154310	Autosomal recessive non-syndromic intellectual disability
ENSG00000154342	Idiopathic juvenile osteoporosis
ENSG00000154473	Mosaic variegated aneuploidy syndrome
ENSG00000154485	Situs ambiguus,Situs inversus totalis
ENSG00000154646	Congenital enteropathy due to enteropeptidase deficiency
ENSG00000154743	Pontocerebellar hypoplasia type 2
ENSG00000154764	Fuhrmann syndrome,Phocomelia, Schinzel type
ENSG00000154767	Xeroderma pigmentosum
ENSG00000154781	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
ENSG00000154803	Birt-Hogg-Dub� syndrome,Familial spontaneous pneumothorax
ENSG00000154856	Hypotrichosis simplex
ENSG00000154864	Arthrogryposis with oculomotor limitation and electroretinal anomalies,Gordon syndrome,Marden-Walker syndrome
ENSG00000154997	Giant cell glioblastoma,Gliosarcoma
ENSG00000155016	Autosomal recessive spastic paraplegia type 56
ENSG00000155380	Exercise-induced hyperinsulinism,Ketoacidosis due to monocarboxylate transporter-1 deficiency,Metabolic myopathy due to lactate transporter defect
ENSG00000155465	Lysinuric protein intolerance
ENSG00000155561	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000155657	Autosomal recessive centronuclear myopathy,Autosomal recessive limb-girdle muscular dystrophy type 2J,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Classic multiminicore myopathy,Early-onset myopathy with fatal cardiomyopathy,Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form,Familial isolated dilated cardiomyopathy,Hereditary proximal myopathy with early respiratory failure,Tibial muscular dystrophy
ENSG00000155719	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000155755	Joubert syndrome,Joubert syndrome with oculorenal defect,Joubert syndrome with renal defect
ENSG00000155816	Autosomal recessive non-syndromic intellectual disability
ENSG00000155850	Achondrogenesis type 1B,Atelosteogenesis type II,Diastrophic dwarfism,Multiple epiphyseal dysplasia type 4
ENSG00000155903	Noonan syndrome
ENSG00000155906	Combined oxidative phosphorylation defect type 11
ENSG00000155961	Early-onset parkinsonism-intellectual disability syndrome,X-linked non-syndromic intellectual disability
ENSG00000155962	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
ENSG00000155966	FRAXE intellectual disability
ENSG00000155974	Fraser syndrome
ENSG00000155975	Autosomal recessive spastic paraplegia type 53
ENSG00000155980	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,Autosomal dominant spastic paraplegia type 10
ENSG00000156006	Isoniazid toxicity
ENSG00000156049	Kaposiform hemangioendothelioma,Tufted angioma
ENSG00000156052	Familial multiple nevi flammei,Phakomatosis cesioflammea,Sturge-Weber syndrome,Uveal melanoma
ENSG00000156110	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
ENSG00000156113	Generalized epilepsy-paroxysmal dyskinesia syndrome
ENSG00000156150	Frontorhiny
ENSG00000156170	Leigh syndrome with leukodystrophy
ENSG00000156171	Cone rod dystrophy
ENSG00000156172	Bardet-Biedl syndrome,Cone rod dystrophy,Retinitis pigmentosa
ENSG00000156298	X-linked non-syndromic intellectual disability
ENSG00000156313	Achromatopsia,Cone rod dystrophy,Primary ciliary dyskinesia,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,Retinitis pigmentosa
ENSG00000156466	Colobomatous microphthalmia,Isolated Klippel-Feil syndrome,Leber congenital amaurosis
ENSG00000156467	Isolated CoQ-cytochrome C reductase deficiency
ENSG00000156471	Lenz-Majewski hyperostotic dwarfism
ENSG00000156475	Spinocerebellar ataxia type 12
ENSG00000156515	Charcot-Marie-Tooth disease type 4G,Non-spherocytic hemolytic anemia due to hexokinase deficiency
ENSG00000156531	Borjeson-Forssman-Lehmann syndrome
ENSG00000156535	Fetal and neonatal alloimmune thrombocytopenia
ENSG00000156574	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly,Situs ambiguus,Situs inversus totalis
ENSG00000156650	Blepharophimosis-intellectual disability syndrome, SBBYS type,Genitopatellar syndrome,Noonan syndrome
ENSG00000156709	Severe X-linked mitochondrial encephalomyopathy,X-linked Charcot-Marie-Tooth disease type 4,X-linked hereditary sensory and autonomic neuropathy with deafness
ENSG00000156738	Common variable immunodeficiency
ENSG00000156831	Microcephalic primordial dwarfism-insulin resistance syndrome
ENSG00000156873	Glycogen storage disease due to liver phosphorylase kinase deficiency
ENSG00000156876	Autosomal recessive primary microcephaly
ENSG00000156925	Isolated congenitally uncorrected transposition of the great arteries,Situs ambiguus
ENSG00000156970	Mosaic variegated aneuploidy syndrome
ENSG00000156973	Joubert syndrome with orofaciodigital defect
ENSG00000157087	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000157103	Myoclonic-astastic epilepsy
ENSG00000157119	Severe congenital nemaline myopathy
ENSG00000157131	Immunodeficiency due to a late component of complement deficiency
ENSG00000157184	Acute necrotizing encephalopathy of childhood,Carnitine palmitoyl transferase II deficiency, myopathic form,Carnitine palmitoyl transferase II deficiency, neonatal form,Carnitine palmitoyl transferase II deficiency, severe infantile form
ENSG00000157227	Nodulosis-arthropathy-osteolysis syndrome,Torg-Winchester syndrome
ENSG00000157259	Familial isolated dilated cardiomyopathy
ENSG00000157388	Aldosterone-producing adenoma with seizures and neurological abnormalities,Sinoatrial node dysfunction and deafness
ENSG00000157399	Brachytelephalangic chondrodysplasia punctata
ENSG00000157404	Acute myeloblastic leukemia with maturation,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Acute myeloid leukemia with t(8;21)(q22;q22) translocation,Aleukemic mast cell leukemia,Bullous diffuse cutaneous mastocytosis,Classic mast cell leukemia,Cutaneous mastocytoma,Gastrointestinal stromal tumor,Gastrointestinal stromal tumor,Isolated bone marrow mastocytosis,Lymphoadenopathic mastocytosis with eosinophilia,Nodular urticaria pigmentosa,Piebaldism,Plaque-form urticaria pigmentosa,Pseudoxanthomatous diffuse cutaneous mastocytosis,Smouldering systemic mastocytosis,Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease,Telangiectasia macularis eruptiva perstans,Typical urticaria pigmentosa
ENSG00000157423	Primary ciliary dyskinesia
ENSG00000157483	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000157500	MODY
ENSG00000157540	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,Intellectual disability syndrome due to a DYRK1A point mutation
ENSG00000157542	Keppen-Lubinsky syndrome
ENSG00000157554	Ewing sarcoma,Extraskeletal Ewing sarcoma,Peripheral primitive neuroectodermal tumor
ENSG00000157613	Myxofibrosarcoma,Osteogenesis imperfecta type 3
ENSG00000157764	Cardiofaciocutaneous syndrome,Craniopharyngioma,Differentiated thyroid carcinoma,Hairy cell leukemia,Hashimoto-Pritzker syndrome,Noonan syndrome,Noonan syndrome with multiple lentigines,Pilocytic astrocytoma,Pilocytic astrocytoma
ENSG00000157765	Pulmonary alveolar microlithiasis
ENSG00000157766	Familial osteochondritis dissecans,Short stature-advanced bone age-early-onset osteoarthritis syndrome,Spondyloepimetaphyseal dysplasia, aggrecan type,Spondyloepiphyseal dysplasia, Kimberley type
ENSG00000157796	Cranioectodermal dysplasia,Jeune syndrome,Juvenile nephronophthisis,Senior-Loken syndrome
ENSG00000157856	Primary ciliary dyskinesia
ENSG00000157869	Cone rod dystrophy
ENSG00000157911	Autosomal recessive ataxia due to PEX10 deficiency,Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000157933	1p36 deletion syndrome,Shprintzen-Goldberg syndrome
ENSG00000157978	Homozygous familial hypercholesterolemia
ENSG00000158055	Bifid uvula,Cleft hard palate,Cleft velum,Submucosal cleft palate,Van der Woude syndrome
ENSG00000158104	Hawkinsinuria,Tyrosinemia type 3
ENSG00000158125	Xanthinuria type I
ENSG00000158158	Jalili syndrome
ENSG00000158169	Fanconi anemia
ENSG00000158290	X-linked intellectual disability, Cabezas type
ENSG00000158321	Autism spectrum disorder due to AUTS2 deficiency,Precursor B-cell acute lymphoblastic leukemia
ENSG00000158352	X-linked intellectual disability, Stocco Dos Santos type
ENSG00000158445	Undetermined early-onset epileptic encephalopathy
ENSG00000158517	Chronic granulomatous disease
ENSG00000158526	Blackfan-Diamond anemia
ENSG00000158578	X-linked erythropoietic protoporphyria,X-linked sideroblastic anemia
ENSG00000158615	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
ENSG00000158683	Situs ambiguus,Situs inversus totalis
ENSG00000158813	Oligodontia,X-linked hypohidrotic ectodermal dysplasia
ENSG00000158815	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000158828	Young-onset Parkinson disease
ENSG00000158864	Isolated complex I deficiency,Leigh syndrome with cardiomyopathy,Leigh syndrome with leukodystrophy
ENSG00000158874	AApoAII amyloidosis
ENSG00000158887	Autosomal dominant Charcot-Marie-Tooth disease type 2I,Autosomal dominant Charcot-Marie-Tooth disease type 2J,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,Charcot-Marie-Tooth disease type 1B,Dejerine-Sottas syndrome,Roussy-L�vy syndrome
ENSG00000159023	Hereditary elliptocytosis
ENSG00000159063	ALG8-CDG
ENSG00000159079	Primary ciliary dyskinesia
ENSG00000159082	Atypical juvenile parkinsonism,Undetermined early-onset epileptic encephalopathy
ENSG00000159128	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
ENSG00000159184	Familial prostate cancer
ENSG00000159189	Immunodeficiency due to a classical component pathway complement deficiency
ENSG00000159197	Familial atrial fibrillation,Romano-Ward syndrome
ENSG00000159216	Acute myeloid leukemia with t(8;21)(q22;q22) translocation,Chronic myeloid leukemia,Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome,Isolated delta-storage pool disease,Precursor B-cell acute lymphoblastic leukemia
ENSG00000159251	Atrial septal defect, ostium secundum type,Familial isolated dilated cardiomyopathy,Left ventricular noncompaction
ENSG00000159261	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000159267	Holocarboxylase synthetase deficiency
ENSG00000159363	Kufor-Rakeb syndrome,Parkinsonism due to ATP13A2 deficiency
ENSG00000159403	Ehlers-Danlos syndrome, periodontitis type,Immunodeficiency due to a classical component pathway complement deficiency
ENSG00000159423	Hyperprolinemia type 2
ENSG00000159459	Johanson-Blizzard syndrome
ENSG00000159579	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
ENSG00000159640	Renal tubular dysgenesis of genetic origin
ENSG00000159650	Urocanic aciduria
ENSG00000159899	Acromesomelic dysplasia, Maroteaux type,Tall stature-scoliosis-macrodactyly of the great toes syndrome
ENSG00000159921	GNE myopathy,Sialuria
ENSG00000159958	Common variable immunodeficiency
ENSG00000160014	Catecholaminergic polymorphic ventricular tachycardia
ENSG00000160131	X-linked myopathy with excessive autophagy
ENSG00000160183	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000160188	Primary ciliary dyskinesia
ENSG00000160200	Classic homocystinuria
ENSG00000160202	Cataract-microcornea syndrome,Early-onset anterior polar cataract,Early-onset lamellar cataract,Early-onset nuclear cataract,Total early-onset cataract
ENSG00000160211	Class I glucose-6-phosphate dehydrogenase deficiency
ENSG00000160213	Unverricht-Lundborg disease
ENSG00000160224	Autoimmune polyendocrinopathy type 1
ENSG00000160255	Leukocyte adhesion deficiency type I
ENSG00000160282	Formiminoglutamic aciduria
ENSG00000160285	Total early-onset cataract
ENSG00000160299	Microcephalic osteodysplastic primordial dwarfism type II,Seckel syndrome
ENSG00000160323	Congenital thrombotic thrombocytopenic purpura
ENSG00000160602	Infantile nephronophthisis,Renal-hepatic-pancreatic dysplasia
ENSG00000160654	Combined immunodeficiency due to CD3gamma deficiency
ENSG00000160695	VPS11-related autosomal recessive hypomyelinating leukodystrophy
ENSG00000160710	Aicardi-Gouti�res syndrome,Dyschromatosis symmetrica hereditaria,Familial infantile bilateral striatal necrosis
ENSG00000160716	Autosomal dominant nocturnal frontal lobe epilepsy
ENSG00000160746	Adult-onset autosomal recessive cerebellar ataxia
ENSG00000160752	Disseminated superficial actinic porokeratosis
ENSG00000160789	Atypical Werner syndrome,Autosomal dominant Emery-Dreifuss muscular dystrophy,Autosomal dominant limb-girdle muscular dystrophy type 1B,Autosomal recessive Emery-Dreifuss muscular dystrophy,Autosomal semi-dominant severe lipodystrophic laminopathy,Charcot-Marie-Tooth disease type 2B1,Congenital muscular dystrophy due to LMNA mutation,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form,Familial partial lipodystrophy, Dunnigan type,Familial partial lipodystrophy, K�bberling type,Heart-hand syndrome, Slovenian type,Hutchinson-Gilford progeria syndrome,Laminopathy type Decaudain-Vigouroux,Left ventricular noncompaction,LMNA-related cardiocutaneous progeria syndrome,Mandibuloacral dysplasia with type A lipodystrophy,Progeria-associated arthropathy,Restrictive dermopathy
ENSG00000160791	Susceptibility/resistance to HIV infection
ENSG00000160796	Gray platelet syndrome
ENSG00000160801	Blomstrand lethal chondrodysplasia,Eiken syndrome,Enchondromatosis,Metaphyseal chondrodysplasia, Jansen type,Primary failure of tooth eruption
ENSG00000160868	Tacrolimus dose selection
ENSG00000160882	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,Familial hyperaldosteronism type I
ENSG00000160957	Baller-Gerold syndrome,RAPADILINO syndrome,Rothmund-Thomson syndrome type 2
ENSG00000160973	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000161011	Amyotrophic lateral sclerosis,Behavioral variant of frontotemporal dementia,Frontotemporal dementia with motor neuron disease,GNE myopathy
ENSG00000161202	Autosomal dominant Robinow syndrome
ENSG00000161217	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
ENSG00000161270	Congenital nephrotic syndrome, Finnish type,Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation,Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
ENSG00000161395	Hyperphosphatasia-intellectual disability syndrome
ENSG00000161405	B-cell chronic lymphocytic leukemia
ENSG00000161533	Peroxisomal acyl-CoA oxidase deficiency
ENSG00000161594	Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000161610	Narcolepsy-cataplexy syndrome,Narcolepsy without cataplexy
ENSG00000161653	Hyperammonemia due to N-acetylglutamate synthase deficiency
ENSG00000161798	Non-epidermolytic palmoplantar keratoderma
ENSG00000161904	Early-onset posterior subcapsular cataract,Total early-onset cataract
ENSG00000161970	Blackfan-Diamond anemia
ENSG00000162004	Congenital myopathy with internal nuclei and atypical cores
ENSG00000162065	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB,DOORS syndrome,Familial infantile myoclonic epilepsy,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,Malignant migrating partial seizures of infancy,Progressive myoclonic epilepsy with dystonia
ENSG00000162129	3-methylglutaconic aciduria type 7
ENSG00000162337	Autosomal dominant osteopetrosis type 1,Autosomal dominant osteosclerosis, Worth type,Familial exudative vitreoretinopathy,Hyperostosis corticalis generalisata,Idiopathic juvenile osteoporosis,Isolated polycystic liver disease,Osteoporosis-pseudoglioma syndrome,Osteosclerosis-developmental delay-craniosynostosis syndrome,Retinopathy of prematurity
ENSG00000162367	Precursor T-cell acute lymphoblastic leukemia
ENSG00000162399	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Infantile Bartter syndrome with sensorineural deafness
ENSG00000162430	Classic multiminicore myopathy,Congenital fiber-type disproportion myopathy,Desmin-related myopathy with Mallory body-like inclusions,Rigid spine syndrome
ENSG00000162438	Hereditary chronic pancreatitis,Tropical pancreatitis
ENSG00000162551	Adult hypophosphatasia,Childhood-onset hypophosphatasia,Infantile hypophosphatasia,Odontohypophosphatasia,Perinatal lethal hypophosphatasia,Prenatal benign hypophosphatasia
ENSG00000162552	M�llerian aplasia and hyperandrogenism,SERKAL syndrome
ENSG00000162594	Beh�et disease
ENSG00000162599	1p31p32 microdeletion syndrome
ENSG00000162614	Familial isolated dilated cardiomyopathy
ENSG00000162631	Atypical Rett syndrome
ENSG00000162676	Autosomal dominant severe congenital neutropenia
ENSG00000162688	Glycogen storage disease due to glycogen debranching enzyme deficiency
ENSG00000162711	CINCA syndrome,Familial cold urticaria,Muckle-Wells syndrome
ENSG00000162733	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
ENSG00000162735	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000162738	Cervical spina bifida aperta,Cervical spina bifida cystica,Cervicothoracic spina bifida aperta,Cervicothoracic spina bifida cystica,Isolated anencephaly/exencephaly,Lumbosacral spina bifida aperta,Lumbosacral spina bifida cystica,Thoracolumbosacral spina bifida aperta,Thoracolumbosacral spina bifida cystica,Total spina bifida aperta,Total spina bifida cystica,Upper thoracic spina bifida aperta,Upper thoracic spina bifida cystica
ENSG00000162747	Neonatal alloimmune neutropenia
ENSG00000162769	Posterior column ataxia-retinitis pigmentosa syndrome
ENSG00000162775	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
ENSG00000162885	Muscle-eye-brain disease,Walker-Warburg syndrome
ENSG00000162928	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000162946	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
ENSG00000162992	MODY
ENSG00000163017	Familial visceral myopathy,Megacystis-microcolon-intestinal hypoperistalsis syndrome,Myopathic intestinal pseudoobstruction
ENSG00000163050	Autosomal recessive ataxia due to ubiquinone deficiency
ENSG00000163069	Autosomal recessive limb-girdle muscular dystrophy type 2E
ENSG00000163093	Bardet-Biedl syndrome
ENSG00000163104	Absence of fingerprints-congenital milia syndrome,Isolated congenital adermatoglyphia
ENSG00000163132	Cleft lip and alveolus,Cleft lip/palate,Hypodontia-dysplasia of nails syndrome,Isolated cleft lip,Oligodontia
ENSG00000163161	Trichothiodystrophy,Xeroderma pigmentosum,Xeroderma pigmentosum-Cockayne syndrome complex
ENSG00000163170	Fatal multiple mitochondrial dysfunctions syndrome type 2
ENSG00000163235	Oligodontia
ENSG00000163251	Coloboma of choroid and retina,Coloboma of eye lens,Coloboma of eyelid,Coloboma of iris,Coloboma of macula,Coloboma of optic papilla
ENSG00000163254	Cataract-microcornea syndrome,Early-onset lamellar cataract,Early-onset nuclear cataract,Pulverulent cataract
ENSG00000163297	Infantile systemic hyalinosis,Juvenile hyaline fibromatosis
ENSG00000163344	Porokeratosis of Mibelli
ENSG00000163347	Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
ENSG00000163359	Bethlem myopathy,Congenital muscular dystrophy, Ullrich type,Primary dystonia, DYT27 type
ENSG00000163378	Adams-Oliver syndrome
ENSG00000163380	Severe congenital nemaline myopathy,Typical nemaline myopathy
ENSG00000163389	Dowling-Degos disease
ENSG00000163421	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000163453	Familial retinal arterial macroaneurysm
ENSG00000163499	Early-onset anterior polar cataract,Early-onset nuclear cataract
ENSG00000163501	Acrocapitofemoral dysplasia,Brachydactyly type A1
ENSG00000163508	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
ENSG00000163513	Familial thoracic aortic aneurysm and aortic dissection,Loeys-Dietz syndrome,Lynch syndrome,Marfan syndrome type 2,Squamous cell carcinoma of esophagus
ENSG00000163527	STT3B-CDG
ENSG00000163536	Familial encephalopathy with neuroserpin inclusion bodies
ENSG00000163541	Fatal infantile lactic acidosis with methylmalonic aciduria
ENSG00000163554	Hereditary elliptocytosis,Hereditary spherocytosis
ENSG00000163581	Glycogen storage disease due to GLUT2 deficiency
ENSG00000163599	Adult-onset myasthenia gravis,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,Classic mycosis fungoides,Granulomatosis with polyangiitis,S�zary syndrome
ENSG00000163600	Common variable immunodeficiency
ENSG00000163631	Congenital analbuminemia
ENSG00000163635	Spinocerebellar ataxia type 7
ENSG00000163637	Progressive myoclonic epilepsy type 5
ENSG00000163644	Intermediate maple syrup urine disease
ENSG00000163646	Retinitis pigmentosa,Usher syndrome type 3
ENSG00000163666	Combined pituitary hormone deficiencies, genetic forms,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Kallmann syndrome,Pituitary stalk interruption syndrome,Septo-optic dysplasia spectrum
ENSG00000163681	Brugada syndrome
ENSG00000163687	Autosomal systemic lupus erythematosus,Hypocomplementemic urticarial vasculitis
ENSG00000163702	Chronic mucocutaneous candidiasis
ENSG00000163703	Complete atrioventricular canal-Fallot tetralogy syndrome,Complete atrioventricular canal-left heart obstruction syndrome,Complete atrioventricular canal-ventricle hypoplasia syndrome,Partial atrioventricular canal
ENSG00000163719	Autosomal dominant centronuclear myopathy
ENSG00000163754	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,Polyglucosan body myopathy type 2
ENSG00000163755	Hermansky-Pudlak syndrome without pulmonary fibrosis
ENSG00000163795	Retinitis pigmentosa
ENSG00000163817	Iminoglycinuria
ENSG00000163818	Bardet-Biedl syndrome
ENSG00000163820	Early-onset nuclear cataract,Total early-onset cataract
ENSG00000163823	Beh�et disease
ENSG00000163898	Hypotrichosis simplex,Woolly hair
ENSG00000163902	Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
ENSG00000163913	Cranioectodermal dysplasia
ENSG00000163914	Congenital stationary night blindness,Retinitis pigmentosa,Retinitis punctata albescens
ENSG00000163930	BAP1-related tumor predisposition syndrome,Familial melanoma
ENSG00000163932	Autoimmune lymphoproliferative syndrome,Autosomal systemic lupus erythematosus,Common variable immunodeficiency
ENSG00000163933	RFT1-CDG
ENSG00000163939	Clear cell papillary renal cell carcinoma
ENSG00000163945	UV-sensitive syndrome
ENSG00000163956	Rare isolated myopia
ENSG00000163961	RIDDLE syndrome
ENSG00000164007	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
ENSG00000164022	Autosomal recessive non-syndromic intellectual disability,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
ENSG00000164053	Seckel syndrome
ENSG00000164073	CLN7 disease
ENSG00000164087	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
ENSG00000164093	Axenfeld anomaly,Axenfeld-Rieger syndrome,Axenfeld-Rieger syndrome,Familial atrial fibrillation,Peters anomaly,Rieger anomaly,Ring dermoid of cornea
ENSG00000164099	Autosomal recessive non-syndromic intellectual disability
ENSG00000164116	Moyamoya disease with early-onset achalasia
ENSG00000164120	Cranio-osteoarthropathy,Isolated congenital digital clubbing,Pachydermoperiostosis
ENSG00000164171	Fetal and neonatal alloimmune thrombocytopenia
ENSG00000164172	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
ENSG00000164175	Oculocutaneous albinism type 4
ENSG00000164182	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000164190	5p13 microduplication syndrome,Cornelia de Lange syndrome
ENSG00000164199	Usher syndrome type 2
ENSG00000164209	Hereditary motor and sensory neuropathy type 6
ENSG00000164252	Klippel-Tr�naunay syndrome
ENSG00000164258	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000164266	Hereditary chronic pancreatitis,Tropical pancreatitis
ENSG00000164307	Beh�et disease
ENSG00000164342	Herpes simplex encephalitis
ENSG00000164344	Congenital prekallikrein deficiency
ENSG00000164362	Clear cell sarcoma of kidney,Dyskeratosis congenita,Familial melanoma,Hoyeraal-Hreidarsson syndrome,Idiopathic aplastic anemia,Idiopathic pulmonary fibrosis
ENSG00000164363	Iminoglycinuria
ENSG00000164405	Isolated CoQ-cytochrome C reductase deficiency
ENSG00000164414	SLC35A1-CDG
ENSG00000164418	Autosomal recessive non-syndromic intellectual disability
ENSG00000164438	Precursor T-cell acute lymphoblastic leukemia
ENSG00000164442	Atrial septal defect, ostium secundum type,Atrial septal defect, sinus venosus type,Situs inversus totalis,Tetralogy of Fallot
ENSG00000164458	Cervical spina bifida aperta,Cervical spina bifida cystica,Cervicothoracic spina bifida aperta,Cervicothoracic spina bifida cystica,Chordoma,Lumbosacral spina bifida aperta,Lumbosacral spina bifida cystica,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,Thoracolumbosacral spina bifida aperta,Thoracolumbosacral spina bifida cystica,Total spina bifida aperta,Total spina bifida cystica,Upper thoracic spina bifida aperta,Upper thoracic spina bifida cystica
ENSG00000164494	Leigh syndrome with nephrotic syndrome
ENSG00000164509	Familial primary localized cutaneous amyloidosis
ENSG00000164512	Oligoarticular juvenile idiopathic arthritis,Rheumatoid factor-negative juvenile idiopathic arthritis
ENSG00000164532	Atrial septal defect, ostium secundum type,Atrial septal defect, ostium secundum type
ENSG00000164587	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
ENSG00000164588	Undetermined early-onset epileptic encephalopathy
ENSG00000164597	COG5-CDG
ENSG00000164610	Retinitis pigmentosa
ENSG00000164619	Diaphanospondylodysostosis,Ischio-vertebral syndrome
ENSG00000164690	Alobar holoprosencephaly,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,Colobomatous microphthalmia,Hypoplastic tibiae-postaxial polydactyly syndrome,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Polydactyly of a triphalangeal thumb, bilateral,Polydactyly of a triphalangeal thumb, unilateral,Radial hemimelia, bilateral,Radial hemimelia, unilateral,Schizencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly,Solitary median maxillary central incisor syndrome,Syndactyly type 4,Triphalangeal thumb-polysyndactyly syndrome
ENSG00000164692	Ehlers-Danlos/osteogenesis imperfecta syndrome,Ehlers-Danlos syndrome, cardiac valvular type,Ehlers-Danlos syndrome type 7B,High bone mass osteogenesis imperfecta,Osteogenesis imperfecta type 1,Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000164708	Glycogen storage disease due to phosphoglycerate mutase deficiency
ENSG00000164736	Familial vesicoureteral reflux
ENSG00000164742	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000164751	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000164754	Cornelia de Lange syndrome
ENSG00000164761	Juvenile Paget disease
ENSG00000164776	Glycogen storage disease due to muscle phosphorylase kinase deficiency
ENSG00000164818	Primary ciliary dyskinesia
ENSG00000164904	Pyridoxine-dependent epilepsy
ENSG00000164930	Autosomal recessive nail dysplasia
ENSG00000164946	BNAR syndrome,Isolated trigonocephaly,Oculotrichoanal syndrome,Renal agenesis, unilateral
ENSG00000164951	Pyruvate dehydrogenase phosphatase deficiency
ENSG00000164953	Joubert syndrome,Joubert syndrome with hepatic defect,Meckel syndrome,Senior-Boichis syndrome
ENSG00000164961	3C syndrome,Autosomal dominant spastic paraplegia type 8
ENSG00000165029	Apolipoprotein A-I deficiency,Tangier disease
ENSG00000165059	Severe autosomal recessive macrothrombocytopenia
ENSG00000165060	Friedreich ataxia
ENSG00000165078	Benign familial mesial temporal lobe epilepsy,Familial mesial temporal lobe epilepsy with febrile seizures
ENSG00000165091	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000165102	Retinitis pigmentosa,Sanfilippo syndrome type C
ENSG00000165119	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
ENSG00000165138	Infantile nephronophthisis,Juvenile nephronophthisis
ENSG00000165140	Fructose-1,6-bisphosphatase deficiency
ENSG00000165168	Chronic granulomatous disease,X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
ENSG00000165186	X-linked non-syndromic intellectual disability
ENSG00000165194	Dravet syndrome,Female restricted epilepsy with intellectual disability
ENSG00000165195	Ferro-cerebro-cutaneous syndrome,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,Paroxysmal nocturnal hemoglobinuria,West syndrome
ENSG00000165240	Menkes disease,Occipital horn syndrome,X-linked distal spinal muscular atrophy type 3
ENSG00000165280	Adult-onset distal myopathy due to VCP mutation,Amyotrophic lateral sclerosis,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation,Behavioral variant of frontotemporal dementia,Frontotemporal dementia with motor neuron disease,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Progressive non-fluent aphasia,Semantic dementia,Spastic paraplegia-Paget disease of bone syndrome
ENSG00000165282	Hyperphosphatasia-intellectual disability syndrome
ENSG00000165370	Acromegaly,X-linked acrogigantism due to Xq26 microduplication
ENSG00000165392	Werner syndrome
ENSG00000165409	Athyreosis,Familial gestational hyperthyroidism,Familial hyperthyroidism due to mutations in TSH receptor,Hypothyroidism due to TSH receptor mutations,Thyroid hypoplasia
ENSG00000165410	Typical nemaline myopathy
ENSG00000165458	Opsismodysplasia,Schneckenbecken dysplasia
ENSG00000165462	Congenital fibrosis of extraocular muscles
ENSG00000165471	Susceptibility to infection in immunocompromised patient
ENSG00000165474	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Keratoderma hereditarium mutilans,KID syndrome,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,Palmoplantar keratoderma-deafness syndrome,Porokeratotic eccrine ostial and dermal duct nevus
ENSG00000165478	Macrocephaly-intellectual disability-autism syndrome,Megalencephalic leukoencephalopathy with subcortical cysts
ENSG00000165506	Primary ciliary dyskinesia
ENSG00000165533	Bardet-Biedl syndrome,Retinitis pigmentosa
ENSG00000165588	Agnathia-holoprosencephaly-situs inversus syndrome,Butterfly-shaped pigment dystrophy,Combined pituitary hormone deficiencies, genetic forms,Isolated anophthalmia-microphthalmia syndrome,Septo-optic dysplasia spectrum,Syndromic microphthalmia type 5
ENSG00000165617	Craniorachischisis,Occipital encephalocele
ENSG00000165643	Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000165646	Brain dopamine-serotonin vesicular transport disease
ENSG00000165671	5q35 microduplication syndrome,Beckwith-Wiedemann syndrome due to NSD1 mutation,Deletion 5q35,Sotos syndrome,Weaver syndrome
ENSG00000165688	Autosomal recessive cerebelloparenchymal disorder type 3
ENSG00000165699	Isolated focal cortical dysplasia type IIb,Lymphangioleiomyomatosis,Tuberous sclerosis complex
ENSG00000165702	Gray platelet syndrome
ENSG00000165704	Hypoxanthine guanine phosphoribosyltransferase partial deficiency,Lesch-Nyhan syndrome
ENSG00000165730	Preeclampsia
ENSG00000165731	Differentiated thyroid carcinoma,Familial medullary thyroid carcinoma,Haddad syndrome,Hereditary pheochromocytoma-paraganglioma,Hirschsprung disease,Multiple endocrine neoplasia type 2A,Multiple endocrine neoplasia type 2B,Renal agenesis, bilateral,Renal agenesis, unilateral,Sporadic pheochromocytoma
ENSG00000165733	Aplasia cutis congenita
ENSG00000165802	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000165821	Coloboma of choroid and retina,Coloboma of eye lens,Coloboma of eyelid,Coloboma of iris,Coloboma of macula,Coloboma of optic papilla
ENSG00000165841	Antidepressant or antipsychotic toxicity or dose selection,Resistance to clopidogrel,Voriconazole toxicity
ENSG00000165898	Fatal mutiple mitochondrial dysfunctions syndrome type 4
ENSG00000165899	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000165915	Ehlers-Danlos syndrome, spondylocheirodysplastic type
ENSG00000165917	Fetal akinesia deformation sequence,Lethal multiple pterygium syndrome,Postsynaptic congenital myasthenic syndromes
ENSG00000165970	Hereditary hyperekplexia
ENSG00000165995	Brugada syndrome
ENSG00000165996	Congenital fiber-type disproportion myopathy
ENSG00000166033	CARASIL,Malignant peripheral nerve sheath tumor
ENSG00000166035	Hyperlipidemia due to hepatic triglyceride lipase deficiency
ENSG00000166037	Mosaic variegated aneuploidy syndrome
ENSG00000166068	Legius syndrome
ENSG00000166086	Porencephaly-microcephaly-bilateral congenital cataract syndrome
ENSG00000166126	Gr�sbeck-Imerslund disease
ENSG00000166147	Acromicric dysplasia,Familial thoracic aortic aneurysm and aortic dissection,Geleophysic dysplasia,Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome,Isolated ectopia lentis,Marfan syndrome type 1,Neonatal Marfan syndrome,Progeroid and marfanoid aspect-lipodystrophy syndrome,Shprintzen-Goldberg syndrome,Stiff skin syndrome,Weill-Marchesani syndrome
ENSG00000166167	Split hand-split foot malformation
ENSG00000166189	Hermansky-Pudlak syndrome without pulmonary fibrosis
ENSG00000166206	Childhood absence epilepsy,Lennox-Gastaut syndrome
ENSG00000166228	Dehydratase deficiency
ENSG00000166250	Congenital short bowel syndrome
ENSG00000166257	Brugada syndrome,Familial atrial fibrillation
ENSG00000166278	Immunodeficiency due to a classical component pathway complement deficiency
ENSG00000166311	Niemann-Pick disease type A,Niemann-Pick disease type B
ENSG00000166326	Isolated aniridia
ENSG00000166340	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,CLN2 disease
ENSG00000166341	Cerebro-facio-articular syndrome,Familial mitral valve prolapse
ENSG00000166347	46,XY disorder of sex development due to isolated 17,20-lyase deficiency,Hereditary methemoglobinemia
ENSG00000166349	Combined immunodeficiency due to partial RAG1 deficiency,Combined immunodeficiency with skin granulomas,Omenn syndrome,Severe combined immunodeficiency due to complete RAG1/2 deficiency
ENSG00000166396	Palmoplantar keratoderma, Nagashima type
ENSG00000166401	Exfoliative ichthyosis
ENSG00000166402	Retinitis pigmentosa
ENSG00000166407	Neuroblastoma
ENSG00000166415	Hypomaturation amelogenesis imperfecta
ENSG00000166535	Noonan syndrome
ENSG00000166546	Spinocerebellar ataxia type 31
ENSG00000166548	Autosomal recessive progressive external ophthalmoplegia,Mitochondrial DNA depletion syndrome, myopathic form
ENSG00000166558	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
ENSG00000166596	Situs inversus totalis
ENSG00000166603	Obesity due to melanocortin 4 receptor deficiency
ENSG00000166685	COG1-CDG
ENSG00000166710	Immunodeficiency by defective expression of HLA class 1,Variant ABeta2M amyloidosis
ENSG00000166716	CAMOS syndrome
ENSG00000166748	Fuchs endothelial corneal dystrophy
ENSG00000166762	Deafness-infertility syndrome
ENSG00000166794	Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000166801	Autosomal dominant Kenny-Caffey syndrome,Osteocraniostenosis
ENSG00000166813	Acrocallosal syndrome,Hydrolethalus,Joubert syndrome with orofaciodigital defect,Multiple epiphyseal dysplasia, Al-Gazali type
ENSG00000166819	PLIN1-related familial partial lipodystrophy
ENSG00000166828	Generalized pseudohypoaldosteronism type 1,Idiopathic bronchiectasis,Liddle syndrome
ENSG00000166848	Familial melanoma
ENSG00000166862	Autosomal dominant non-syndromic intellectual disability
ENSG00000166863	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000166866	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000166886	Solitary fibrous tumor
ENSG00000166888	Solitary fibrous tumor
ENSG00000166900	Microvillus inclusion disease
ENSG00000166923	Hereditary mixed polyposis syndrome
ENSG00000166947	Hereditary spherocytosis
ENSG00000166948	Inherited acute myeloid leukemia,Spinocerebellar ataxia type 35
ENSG00000166949	Aneurysm-osteoarthritis syndrome,Familial thoracic aortic aneurysm and aortic dissection
ENSG00000166974	Multiple benign circumferential skin creases on limbs
ENSG00000166986	Autosomal dominant Charcot-Marie-Tooth disease type 2U,Autosomal recessive spastic paraplegia type 70,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
ENSG00000167113	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ENSG00000167114	Ichthyosis prematurity syndrome
ENSG00000167131	Primary ciliary dyskinesia
ENSG00000167207	Blau syndrome
ENSG00000167210	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000167244	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,Isolated hemihyperplasia,Silver-Russell syndrome due to 11p15 microduplication,Silver-Russell syndrome due to an imprinting defect of 11p15,Silver-Russell syndrome due to a point mutation
ENSG00000167286	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
ENSG00000167306	Microvillus inclusion disease,Progressive familial intrahepatic cholestasis type 1,Progressive familial intrahepatic cholestasis type 2
ENSG00000167323	Combined immunodeficiency due to STIM1 deficiency,Stormorken-Sjaastad-Langslet syndrome,Tubular aggregate myopathy
ENSG00000167371	Benign familial infantile epilepsy,Familial or sporadic hemiplegic migraine,Infantile convulsions and choreoathetosis,Paroxysmal exertion-induced dyskinesia,Paroxysmal kinesigenic dyskinesia,Paroxysmal non-kinesigenic dyskinesia
ENSG00000167397	Hereditary combined deficiency of vitamin K-dependent clotting factors,Resistance to vitamin K antagonists,Vitamin K antagonists toxicity or dose selection
ENSG00000167434	Retinitis pigmentosa
ENSG00000167460	Inflammatory myofibroblastic tumor
ENSG00000167468	Spondylometaphyseal dysplasia, Sedaghatian type
ENSG00000167508	Disseminated superficial actinic porokeratosis
ENSG00000167513	Ear-patella-short stature syndrome
ENSG00000167522	16q24.3 microdeletion syndrome,KBG syndrome
ENSG00000167548	Kabuki syndrome
ENSG00000167552	Lissencephaly due to TUBA1A mutation,Tubulinopathy-associated dysgyria
ENSG00000167580	Nephrogenic diabetes insipidus
ENSG00000167588	Transient infantile hypertriglyceridemia and hepatosteatosis
ENSG00000167632	Autosomal recessive non-syndromic intellectual disability,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
ENSG00000167634	Complete hydatidiform mole,Partial hydatidiform mole
ENSG00000167642	Congenital sodium diarrhea
ENSG00000167646	Primary ciliary dyskinesia
ENSG00000167654	Cerebellar ataxia, Cayman type
ENSG00000167658	Spinocerebellar ataxia type 26
ENSG00000167711	Congenital alpha2-antiplasmin deficiency
ENSG00000167716	Dysequilibrium syndrome
ENSG00000167723	Isolated focal non-epidermolytic palmoplantar keratoderma,Mutilating palmoplantar keratoderma with periorificial keratotic plaques
ENSG00000167749	Hypomaturation amelogenesis imperfecta
ENSG00000167768	Annular epidermolytic ichthyosis,Congenital reticular ichthyosiform erythroderma,Epidermolytic ichthyosis,Epidermolytic palmoplantar keratoderma,Ichthyosis hystrix of Curth-Macklin,Keratosis palmoplantaris striata
ENSG00000167775	Methylmalonic aciduria due to transcobalamin receptor defect
ENSG00000167791	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000167792	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000167895	Epidermodysplasia verruciformis
ENSG00000167910	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
ENSG00000167941	Craniodiaphyseal dysplasia,Hyperostosis corticalis generalisata,Sclerosteosis
ENSG00000167972	Interstitial lung disease due to ABCA3 deficiency
ENSG00000167985	Hereditary pheochromocytoma-paraganglioma
ENSG00000167995	Adult-onset foveomacular vitelliform dystrophy,Autosomal dominant vitreoretinochoroidopathy,Autosomal recessive bestrophinopathy,Best vitelliform macular dystrophy,MRCS syndrome,Retinitis pigmentosa
ENSG00000167996	FTH1-related iron overload
ENSG00000168000	Autosomal dominant spastic paraplegia type 17,Berardinelli-Seip congenital lipodystrophy,Distal hereditary motor neuropathy type 5,Severe neurodegenerative syndrome with lipodystrophy
ENSG00000168014	Orofaciodigital syndrome type 14
ENSG00000168028	Familial isolated congenital asplenia
ENSG00000168036	Craniopharyngioma,Desmoid tumor,Pilomatrixoma,Severe intellectual disability-progressive spastic diplegia syndrome
ENSG00000168040	FADD-related immunodeficiency,Oculootodental syndrome
ENSG00000168056	Acromicric dysplasia,Brachyolmia-amelogenesis imperfecta syndrome,Geleophysic dysplasia
ENSG00000168137	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
ENSG00000168214	Adams-Oliver syndrome
ENSG00000168216	Methylmalonic acidemia with homocystinuria type cblF
ENSG00000168237	D-glyceric aciduria
ENSG00000168263	Cone dystrophy with supernormal rod response
ENSG00000168267	Partial pancreatic agenesis,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
ENSG00000168269	Pendred syndrome
ENSG00000168275	Fatal infantile cytochrome C oxidase deficiency
ENSG00000168282	MGAT2-CDG
ENSG00000168288	Methylcobalamin deficiency type cblDv1,Methylmalonic acidemia with homocystinuria, type cblD,Vitamin B12-responsive methylmalonic acidemia, type cblDv2
ENSG00000168291	Pyruvate dehydrogenase E1-beta deficiency
ENSG00000168303	Trichothiodystrophy
ENSG00000168356	Channelopathy-associated congenital insensitivity to pain,Familial episodic pain syndrome with predominantly lower limb involvement,Hereditary sensory and autonomic neuropathy type 7,Paroxysmal extreme pain disorder,Primary erythermalgia,Sodium channelopathy-related small fiber neuropathy
ENSG00000168389	Autosomal recessive primary microcephaly
ENSG00000168394	Immunodeficiency by defective expression of HLA class 1
ENSG00000168421	T-cell immunodeficiency with epidermodysplasia verruciformis
ENSG00000168434	COG7-CDG
ENSG00000168447	Generalized pseudohypoaldosteronism type 1,Idiopathic bronchiectasis,Liddle syndrome
ENSG00000168453	Alopecia universalis,Atrichia with papular lesions,Marie Unna hereditary hypotrichosis
ENSG00000168477	Ehlers-Danlos syndrome due to tenascin-X deficiency,Ehlers-Danlos syndrome, hypermobility type,Familial vesicoureteral reflux
ENSG00000168484	Chronic respiratory distress with surfactant metabolism deficiency,Idiopathic pulmonary fibrosis,Infant acute respiratory distress syndrome,Interstitial lung disease due to SP-C deficiency
ENSG00000168487	Osteogenesis imperfecta type 3
ENSG00000168509	Hemochromatosis type 2
ENSG00000168538	Autosomal recessive limb-girdle muscular dystrophy type 2S,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
ENSG00000168542	Acrogeria,Ehlers-Danlos syndrome, vascular type,Familial abdominal aortic aneurysm,Familial cerebral saccular aneurysm
ENSG00000168575	Bilateral striopallidodentate calcinosis
ENSG00000168610	Autosomal dominant hyper-IgE syndrome,STAT3-related early-onset multisystem autoimmune disease
ENSG00000168615	Cone rod dystrophy
ENSG00000168621	Hirschsprung disease,Ondine syndrome
ENSG00000168631	Diffuse panbronchiolitis
ENSG00000168646	AXIN2-related attenuated familial adenomatous polyposis,Oligodontia,Oligodontia-cancer predisposition syndrome
ENSG00000168685	Omenn syndrome,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
ENSG00000168769	Acquired idiopathic sideroblastic anemia,Acute myeloid leukemia with multilineage dysplasia,Essential thrombocythemia,Polycythemia vera,Primary myelofibrosis,Refractory anemia,Refractory anemia with excess blasts
ENSG00000168778	Joubert syndrome,Meckel syndrome
ENSG00000168811	Beh�et disease,Primary biliary cholangitis
ENSG00000168827	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
ENSG00000168878	Infant acute respiratory distress syndrome,Neonatal acute respiratory distress due to SP-B deficiency
ENSG00000168924	Wolf-Hirschhorn syndrome
ENSG00000168944	Jeune syndrome,Joubert syndrome,Joubert syndrome with ocular defect
ENSG00000169031	Autosomal dominant Alport syndrome,Autosomal recessive Alport syndrome,Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000169032	Cardiofaciocutaneous syndrome
ENSG00000169045	Precursor T-cell acute lymphoblastic leukemia
ENSG00000169057	Atypical Rett syndrome,Rett syndrome,Severe neonatal-onset encephalopathy with microcephaly,Trisomy Xq28,X-linked intellectual disability-psychosis-macroorchidism syndrome,X-linked non-syndromic intellectual disability
ENSG00000169071	Autosomal recessive Robinow syndrome,Brachydactyly type B
ENSG00000169083	Complete androgen insensitivity syndrome,Familial hypospadias,Kennedy disease,Partial androgen insensitivity syndrome
ENSG00000169087	Hereditary clear cell renal cell carcinoma
ENSG00000169105	Ehlers-Danlos syndrome, musculocontractural type
ENSG00000169126	Primary ciliary dyskinesia
ENSG00000169169	Autosomal dominant spastic paraplegia type 73
ENSG00000169174	Homozygous familial hypercholesterolemia
ENSG00000169184	Familial multiple meningioma
ENSG00000169218	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
ENSG00000169247	Charcot-Marie-Tooth disease type 4C
ENSG00000169271	Distal hereditary motor neuropathy type 2
ENSG00000169297	46,XY complete gonadal dysgenesis,46,XY partial gonadal dysgenesis,Cytomegalic congenital adrenal hypoplasia
ENSG00000169306	X-linked non-syndromic intellectual disability
ENSG00000169313	P2Y12 defect,Resistance to clopidogrel
ENSG00000169344	Autosomal dominant medullary cystic kidney disease with hyperuricemia,Familial juvenile hyperuricemic nephropathy type 1
ENSG00000169359	Autosomal dominant spastic paraplegia type 42,Congenital cataract-hearing loss-severe developmental delay syndrome
ENSG00000169372	Autosomal recessive non-syndromic intellectual disability
ENSG00000169375	15q24 microdeletion syndrome
ENSG00000169379	Joubert syndrome
ENSG00000169427	Intellectual disability, Birk-Barel type
ENSG00000169432	Channelopathy-associated congenital insensitivity to pain,Dravet syndrome,Erythromelalgia,Generalized epilepsy with febrile seizures-plus,Hereditary sensory and autonomic neuropathy type 2,Paroxysmal extreme pain disorder,Primary erythermalgia,Sodium channelopathy-related small fiber neuropathy
ENSG00000169515	3M syndrome
ENSG00000169554	Mowat-Wilson syndrome due to a ZEB2 point mutation,Mowat-Wilson syndrome due to monosomy 2q22
ENSG00000169562	X-linked Charcot-Marie-Tooth disease type 1,X-linked progressive cerebellar ataxia
ENSG00000169567	Autosomal recessive axonal neuropathy with neuromyotonia
ENSG00000169599	Fatal multiple mitochondrial dysfunctions syndrome type 1
ENSG00000169604	GAPO syndrome
ENSG00000169607	Filippi syndrome
ENSG00000169679	Mosaic variegated aneuploidy syndrome
ENSG00000169692	Berardinelli-Seip congenital lipodystrophy
ENSG00000169696	Alveolar soft-tissue sarcoma,MiT family translocation renal cell carcinoma
ENSG00000169704	Bernard-Soulier syndrome
ENSG00000169714	Proximal myotonic myopathy
ENSG00000169738	Pentosuria
ENSG00000169762	Complex lethal osteochondrodysplasia
ENSG00000169814	Biotinidase deficiency
ENSG00000169836	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000169862	Monosomy 5p
ENSG00000169884	Oligodontia,Split hand-split foot malformation
ENSG00000169919	Mucopolysaccharidosis type 7
ENSG00000169933	X-linked non-syndromic intellectual disability
ENSG00000169946	46,XY partial gonadal dysgenesis,Congenital diaphragmatic hernia,Tetralogy of Fallot
ENSG00000170099	Corticosteroid-binding globulin deficiency
ENSG00000170113	Autosomal dominant spastic paraplegia type 6
ENSG00000170175	Postsynaptic congenital myasthenic syndromes,Postsynaptic congenital myasthenic syndromes
ENSG00000170262	Familial glucocorticoid deficiency
ENSG00000170264	Retinitis pigmentosa
ENSG00000170266	GM1 gangliosidosis type 1,GM1 gangliosidosis type 2,GM1 gangliosidosis type 3,Mucopolysaccharidosis type 4B
ENSG00000170275	Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000170289	Achromatopsia,Progressive cone dystrophy,Stargardt disease
ENSG00000170315	Bifid uvula,Cleft hard palate,Cleft velum,Submucosal cleft palate
ENSG00000170345	Berardinelli-Seip congenital lipodystrophy
ENSG00000170370	Schizencephaly
ENSG00000170374	Osteogenesis imperfecta type 4
ENSG00000170381	CHARGE syndrome
ENSG00000170430	Familial melanoma,Giant cell glioblastoma,Gliosarcoma
ENSG00000170442	Monilethrix
ENSG00000170445	Usher syndrome type 3
ENSG00000170465	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
ENSG00000170477	White sponge nevus
ENSG00000170484	Hypotrichosis simplex of the scalp,Pure hair and nail ectodermal dysplasia,Woolly hair
ENSG00000170498	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000170523	Monilethrix
ENSG00000170540	Autosomal recessive spastic paraplegia type 61
ENSG00000170561	Clear cell sarcoma of kidney
ENSG00000170581	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
ENSG00000170615	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000170624	Autosomal recessive limb-girdle muscular dystrophy type 2F,Familial isolated dilated cardiomyopathy
ENSG00000170734	Xeroderma pigmentosum variant
ENSG00000170819	Early-onset lamellar cataract,Early-onset sutural cataract,Pulverulent cataract
ENSG00000170820	46,XX gonadal dysgenesis,Ovarian hyperstimulation syndrome
ENSG00000170835	MODY
ENSG00000170836	Hereditary breast cancer
ENSG00000170876	Autosomal dominant Emery-Dreifuss muscular dystrophy,Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
ENSG00000170881	Hereditary clear cell renal cell carcinoma
ENSG00000170892	Pontocerebellar hypoplasia type 2
ENSG00000170893	Isolated thyrotropin-releasing hormone deficiency
ENSG00000170927	Autosomal recessive polycystic kidney disease,Caroli disease
ENSG00000171051	Susceptibility to localized juvenile periodontitis
ENSG00000171094	ALK-positive anaplastic large cell lymphoma,ALK-positive large B-cell lymphoma,Differentiated thyroid carcinoma,Inflammatory myofibroblastic tumor,Neuroblastoma,Neuroblastoma,Selection of therapeutic option in non-small cell lung carcinoma
ENSG00000171100	X-linked centronuclear myopathy,X-linked myotubular myopathy-abnormal genitalia syndrome
ENSG00000171105	Hyperinsulinism due to INSR deficiency,Insulin-resistance syndrome type A,Leprechaunism,Rabson-Mendenhall syndrome
ENSG00000171119	Hirschsprung disease
ENSG00000171135	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ENSG00000171202	Autosomal recessive optic atrophy, OPA7 type
ENSG00000171204	Isolated complex I deficiency
ENSG00000171298	Glycogen storage disease due to acid maltase deficiency, infantile onset,Glycogen storage disease due to acid maltase deficiency, late-onset
ENSG00000171302	Desbuquois syndrome
ENSG00000171303	Heritable pulmonary arterial hypertension
ENSG00000171316	CHARGE syndrome,Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism,Omenn syndrome
ENSG00000171320	Roberts syndrome
ENSG00000171365	Dent disease type 1
ENSG00000171385	Brugada syndrome,Spinocerebellar ataxia type 19/22
ENSG00000171401	White sponge nevus
ENSG00000171403	Epidermolytic palmoplantar keratoderma
ENSG00000171453	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,Treacher-Collins syndrome
ENSG00000171456	Bohring-Opitz syndrome
ENSG00000171503	Multiple acyl-CoA dehydrogenation deficiency, mild type,Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
ENSG00000171551	Distal arthrogryposis type 5D
ENSG00000171557	Familial afibrinogenemia,Familial dysfibrinogenemia,Familial hypodysfibrinogenemia,Familial hypofibrinogenemia
ENSG00000171560	AFib amyloidosis,Familial afibrinogenemia,Familial dysfibrinogenemia,Familial hypodysfibrinogenemia,Familial hypofibrinogenemia
ENSG00000171564	Familial afibrinogenemia,Familial dysfibrinogenemia,Familial hypodysfibrinogenemia,Familial hypofibrinogenemia
ENSG00000171595	Primary ciliary dyskinesia
ENSG00000171608	Activated PI3K-delta syndrome
ENSG00000171680	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,Autosomal recessive lower motor neuron disease with childhood onset
ENSG00000171714	Autosomal recessive limb-girdle muscular dystrophy type 2L,Distal anoctaminopathy,Gnathodiaphyseal dysplasia
ENSG00000171723	Hereditary hyperekplexia,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
ENSG00000171735	Epithelioid hemangioendothelioma,Non-progressive cerebellar ataxia with intellectual disability
ENSG00000171759	Classic phenylketonuria,Maternal phenylketonuria,Mild hyperphenylalaninemia,Mild phenylketonuria,Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
ENSG00000171766	L-Arginine:glycine amidinotransferase deficiency
ENSG00000171772	Male infertility with azoospermia or oligozoospermia due to single gene mutation
ENSG00000171791	Follicular lymphoma,Intravascular large B-cell lymphoma
ENSG00000171793	Severe combined immunodeficiency due to CTPS1 deficiency
ENSG00000171812	Fuchs endothelial corneal dystrophy,Posterior polymorphous corneal dystrophy
ENSG00000171843	Acute myeloid leukemia with t(9;11)(p22;q23)
ENSG00000171862	Bannayan-Riley-Ruvalcaba syndrome,Cowden syndrome,Hereditary breast and ovarian cancer syndrome,Juvenile polyposis of infancy,Lhermitte-Duclos disease,Macrocephaly-intellectual disability-autism syndrome,Proteus-like syndrome,Proteus syndrome,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,Squamous cell carcinoma of head and neck
ENSG00000171863	Blackfan-Diamond anemia
ENSG00000171865	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
ENSG00000171867	Familial Alzheimer-like prion disease,Fatal familial insomnia,Gerstmann-Straussler-Scheinker syndrome,Huntington disease-like 1,Inherited Creutzfeldt-Jakob disease,Kuru,PrP systemic amyloidosis
ENSG00000171953	Isolated ATP synthase deficiency
ENSG00000171954	Lamellar ichthyosis
ENSG00000171988	22q11.2 deletion syndrome,Germinoma of the central nervous system
ENSG00000172007	Smith-McCort dysplasia
ENSG00000172037	LAMB2-related infantile-onset nephrotic syndrome,Pierson syndrome,Synaptic congenital myasthenic syndromes
ENSG00000172053	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
ENSG00000172059	MODY
ENSG00000172062	Proximal spinal muscular atrophy type 1,Proximal spinal muscular atrophy type 2,Proximal spinal muscular atrophy type 3,Proximal spinal muscular atrophy type 4
ENSG00000172071	Wolcott-Rallison syndrome
ENSG00000172115	Autosomal thrombocytopenia with normal platelets
ENSG00000172175	Combined immunodeficiency due to MALT1 deficiency,MALT lymphoma
ENSG00000172243	Chronic mucocutaneous candidiasis
ENSG00000172269	Congenital myasthenic syndromes with glycosylation defect,DPAGT1-CDG
ENSG00000172331	Hemolytic anemia due to diphosphoglycerate mutase deficiency
ENSG00000172339	Congenital myasthenic syndromes with glycosylation defect
ENSG00000172361	Situs ambiguus,Situs inversus totalis
ENSG00000172379	Septo-optic dysplasia spectrum
ENSG00000172409	Pontocerebellar hypoplasia type 10
ENSG00000172426	Primary ciliary dyskinesia
ENSG00000172482	Primary hyperoxaluria type 1
ENSG00000172493	Precursor B-cell acute lymphoblastic leukemia
ENSG00000172534	Methylmalonic acidemia with homocystinuria, type cblX,X-linked non-syndromic intellectual disability
ENSG00000172548	Congenital non-bullous ichthyosiform erythroderma,Lamellar ichthyosis
ENSG00000172572	Brachydactyly-arterial hypertension syndrome
ENSG00000172638	Autosomal recessive cutis laxa type 1,Lethal arteriopathy syndrome due to fibulin-4 deficiency
ENSG00000172817	Autosomal recessive spastic paraplegia type 5A,Congenital bile acid synthesis defect type 3
ENSG00000172867	Superficial epidermolytic ichthyosis
ENSG00000172893	Smith-Lemli-Opitz syndrome
ENSG00000172922	Aicardi-Gouti�res syndrome
ENSG00000172936	Pyogenic bacterial infections due to MyD88 deficiency,Waldenstr�m macroglobulinemia
ENSG00000172943	X-linked intellectual disability, Siderius type
ENSG00000172987	Ochoa syndrome
ENSG00000173039	Ependymoma
ENSG00000173040	Acrofacial dysostosis, Weyers type,Ellis Van Creveld syndrome
ENSG00000173085	Leigh syndrome with nephrotic syndrome,Multiple system atrophy, cerebellar type,Multiple system atrophy, parkinsonian type
ENSG00000173175	Benign familial chorea,Familial dyskinesia and facial myokymia
ENSG00000173218	Caudal regression sequence,Cervical spina bifida aperta,Cervical spina bifida cystica,Cervicothoracic spina bifida aperta,Cervicothoracic spina bifida cystica,Lumbosacral spina bifida aperta,Lumbosacral spina bifida cystica,Thoracolumbosacral spina bifida aperta,Thoracolumbosacral spina bifida cystica,Total spina bifida aperta,Total spina bifida cystica,Upper thoracic spina bifida aperta,Upper thoracic spina bifida cystica
ENSG00000173226	Leber congenital amaurosis,Senior-Loken syndrome
ENSG00000173369	Immunodeficiency due to a classical component pathway complement deficiency
ENSG00000173372	Immunodeficiency due to a classical component pathway complement deficiency
ENSG00000173402	Autosomal recessive limb-girdle muscular dystrophy type 2P,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,Walker-Warburg syndrome
ENSG00000173432	AA amyloidosis
ENSG00000173531	Primary sclerosing cholangitis
ENSG00000173540	Autosomal recessive limb-girdle muscular dystrophy type 2T,Congenital muscular dystrophy with cerebellar involvement,Congenital muscular dystrophy with intellectual disability,Congenital myasthenic syndromes with glycosylation defect,Muscle-eye-brain disease
ENSG00000173559	Acute promyelocytic leukemia
ENSG00000173575	Lennox-Gastaut syndrome,Myoclonic-astastic epilepsy
ENSG00000173588	Infantile nephronophthisis
ENSG00000173599	Pyruvate carboxylase deficiency, benign type,Pyruvate carboxylase deficiency, infantile form,Pyruvate carboxylase deficiency, severe neonatal type
ENSG00000173614	Leber congenital amaurosis
ENSG00000173638	Methotrexate toxicity or dose selection
ENSG00000173674	Differentiated thyroid carcinoma
ENSG00000173698	Congenital bilateral absence of vas deferens
ENSG00000173757	Acute promyelocytic leukemia,Laron syndrome with immunodeficiency
ENSG00000173801	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form,Lethal acantholytic epidermolysis bullosa,Naxos disease
ENSG00000173821	Moyamoya disease
ENSG00000173894	46,XY complete gonadal dysgenesis
ENSG00000173898	Spectrin-associated autosomal recessive cerebellar ataxia,Spinocerebellar ataxia type 5
ENSG00000173976	Cone rod dystrophy
ENSG00000173991	Autosomal recessive limb-girdle muscular dystrophy type 2G,Familial isolated dilated cardiomyopathy
ENSG00000174007	Obesity due to CEP19 deficiency
ENSG00000174080	CLN13 disease
ENSG00000174099	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000174106	12q14 microdeletion syndrome,Buschke-Ollendorff syndrome,Isolated osteopoikilosis,Melorheostosis with osteopoikilosis
ENSG00000174231	Retinitis pigmentosa
ENSG00000174233	Hypomyelination neuropathy-arthrogryposis syndrome
ENSG00000174358	Hartnup disease,Iminoglycinuria
ENSG00000174405	Dubowitz syndrome,LIG4 syndrome,Omenn syndrome
ENSG00000174417	Resistance to thyrotropin-releasing hormone syndrome
ENSG00000174437	Acrokeratosis verruciformis of Hopf,Darier disease
ENSG00000174469	Cortical dysplasia-focal epilepsy syndrome,Pitt-Hopkins-like syndrome
ENSG00000174483	Bardet-Biedl syndrome
ENSG00000174640	Chronic enteropathy associated with SLCO2A1 gene,Pachydermoperiostosis
ENSG00000174684	Walker-Warburg syndrome
ENSG00000174697	Obesity due to congenital leptin deficiency
ENSG00000174705	Dermato-cardio-skeletal syndrome, Borrone type,Frank-Ter Haar syndrome
ENSG00000174720	Microcephalic primordial dwarfism, Alazami type
ENSG00000174748	Blackfan-Diamond anemia
ENSG00000174775	Costello syndrome,Differentiated thyroid carcinoma,Linear nevus sebaceus syndrome,Phakomatosis pigmentokeratotica
ENSG00000174780	Autosomal dominant aplasia and myelodysplasia
ENSG00000174792	Hypomaturation amelogenesis imperfecta
ENSG00000174799	Autosomal recessive primary microcephaly
ENSG00000174804	Familial exudative vitreoretinopathy,Persistent hyperplastic primary vitreous,Retinopathy of prematurity
ENSG00000174842	Glomuvenous malformation
ENSG00000174886	Isolated complex I deficiency
ENSG00000174963	Isolated Dandy-Walker malformation with hydrocephalus,Isolated Dandy-Walker malformation without hydrocephalus
ENSG00000174990	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
ENSG00000174996	Spastic paraplegia-optic atrophy-neuropathy syndrome
ENSG00000175054	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome,Seckel syndrome
ENSG00000175065	Hypotrichosis simplex,Monilethrix
ENSG00000175084	Autosomal dominant limb-girdle muscular dystrophy type 1E,Autosomal recessive limb-girdle muscular dystrophy type 2R,Desminopathy,Familial isolated dilated cardiomyopathy,Neurogenic scapuloperoneal syndrome, Kaeser type
ENSG00000175097	Combined immunodeficiency with skin granulomas,Omenn syndrome,Severe combined immunodeficiency due to complete RAG1/2 deficiency
ENSG00000175104	Autosomal dominant hypohidrotic ectodermal dysplasia
ENSG00000175110	Hypotonia with lactic acidemia and hyperammonemia
ENSG00000175115	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
ENSG00000175197	Myxoid/round cell liposarcoma
ENSG00000175198	Propionic acidemia
ENSG00000175206	Atrial standstill,Familial atrial fibrillation
ENSG00000175213	Familial exudative vitreoretinopathy,Retinitis pigmentosa
ENSG00000175283	DK1-CDG,Familial isolated dilated cardiomyopathy
ENSG00000175294	Non-syndromic male infertility due to sperm motility disorder
ENSG00000175325	Combined pituitary hormone deficiencies, genetic forms,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Panhypopituitarism
ENSG00000175334	Nestor-Guillermo progeria syndrome
ENSG00000175344	15q13.3 microdeletion syndrome
ENSG00000175354	Oligoarticular juvenile idiopathic arthritis,Rheumatoid factor-negative juvenile idiopathic arthritis
ENSG00000175426	Obesity due to prohormone convertase I deficiency
ENSG00000175445	Familial lipoprotein lipase deficiency,Hyperlipoproteinemia type 5
ENSG00000175505	Cold-induced sweating syndrome,Crisponi syndrome
ENSG00000175535	Pancreatic colipase deficiency
ENSG00000175536	Lipoyl transferase 2 deficiency
ENSG00000175538	Brugada syndrome,Hypokalemic periodic paralysis
ENSG00000175544	Congenital stationary night blindness
ENSG00000175567	Hyperinsulinism due to UCP2 deficiency
ENSG00000175595	Cockayne syndrome type 1,Fanconi anemia,Xeroderma pigmentosum,Xeroderma pigmentosum-Cockayne syndrome complex
ENSG00000175600	Glutaric acidemia type 3
ENSG00000175606	TMEM70-related mitochondrial encephalo-cardio-myopathy
ENSG00000175745	Optic atrophy-intellectual disability syndrome
ENSG00000175832	Ewing sarcoma
ENSG00000175894	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000175920	Fetal akinesia deformation sequence,Postsynaptic congenital myasthenic syndromes
ENSG00000176022	Ehlers-Danlos syndrome, progeroid type,Spondyloepimetaphyseal dysplasia with joint laxity
ENSG00000176058	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000176076	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
ENSG00000176165	14q11.2 microduplication syndrome,14q12 microdeletion syndrome,Atypical Rett syndrome
ENSG00000176225	Microcephalic primordial dwarfism due to RTTN deficiency
ENSG00000176340	Isolated cytochrome C oxidase deficiency
ENSG00000176387	Apparent mineralocorticoid excess
ENSG00000176619	Partial acquired lipodystrophy,Progressive myoclonic epilepsy type 9
ENSG00000176692	Lymphedema-distichiasis syndrome
ENSG00000176697	WAGR syndrome
ENSG00000176715	Combined malonic and methylmalonic acidemia
ENSG00000176842	Craniofacial dysplasia-osteopenia syndrome
ENSG00000176884	Autosomal dominant non-syndromic intellectual disability
ENSG00000176887	Coffin-Siris syndrome
ENSG00000176890	5-fluorouracil toxicity
ENSG00000176915	Autosomal recessive primary microcephaly
ENSG00000176919	Immunodeficiency due to a late component of complement deficiency
ENSG00000176986	22q11.2 deletion syndrome
ENSG00000177000	Cervical spina bifida aperta,Cervical spina bifida cystica,Cervicothoracic spina bifida aperta,Cervicothoracic spina bifida cystica,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,Isolated anencephaly/exencephaly,Lumbosacral spina bifida aperta,Lumbosacral spina bifida cystica,Methotrexate toxicity or dose selection,Thoracolumbosacral spina bifida aperta,Thoracolumbosacral spina bifida cystica,Total spina bifida aperta,Total spina bifida cystica,Upper thoracic spina bifida aperta,Upper thoracic spina bifida cystica
ENSG00000177030	Autosomal dominant non-syndromic intellectual disability,Intellectual disability-epilepsy-extrapyramidal syndrome
ENSG00000177045	BOR syndrome
ENSG00000177082	CAMOS syndrome,Galloway-Mowat syndrome
ENSG00000177084	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,Polymerase proofreading-related adenomatous polyposis
ENSG00000177098	Familial atrial fibrillation,Romano-Ward syndrome
ENSG00000177119	Scott syndrome
ENSG00000177156	Transaldolase deficiency
ENSG00000177189	Coffin-Lowry syndrome,X-linked non-syndromic intellectual disability
ENSG00000177192	Mitochondrial myopathy and sideroblastic anemia
ENSG00000177239	Autosomal recessive non-syndromic intellectual disability,MAN1B1-CDG
ENSG00000177301	Undetermined early-onset epileptic encephalopathy,Undetermined early-onset epileptic encephalopathy
ENSG00000177374	Miller-Dieker syndrome
ENSG00000177409	Ataxia-pancytopenia syndrome
ENSG00000177426	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000177455	Common variable immunodeficiency
ENSG00000177469	Generalized congenital lipodystrophy with myopathy
ENSG00000177542	Early infantile epileptic encephalopathy,Early myoclonic encephalopathy,Malignant migrating partial seizures of infancy
ENSG00000177565	Acute promyelocytic leukemia
ENSG00000177628	Fetal Gaucher disease,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type 1,Gaucher disease type 2,Gaucher disease type 3,Hereditary late-onset Parkinson disease
ENSG00000177646	Acyl-CoA dehydrogenase 9 deficiency
ENSG00000177663	Chronic mucocutaneous candidiasis
ENSG00000177666	Neutral lipid storage myopathy
ENSG00000177697	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
ENSG00000177706	Lethal osteosclerotic bone dysplasia
ENSG00000177731	Smith-Magenis syndrome
ENSG00000177807	EAST syndrome,Pendred syndrome
ENSG00000177990	Male infertility due to globozoospermia
ENSG00000178057	Isolated complex I deficiency
ENSG00000178127	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000178188	Distal 16p11.2 microdeletion syndrome,Proximal 16p11.2 microdeletion syndrome,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
ENSG00000178209	Autosomal recessive limb-girdle muscular dystrophy type 2Q,Epidermolysis bullosa simplex, Ogna type,Epidermolysis bullosa simplex with muscular dystrophy,Epidermolysis bullosa simplex with pyloric atresia
ENSG00000178445	Atypical glycine encephalopathy,Infantile glycine encephalopathy,Neonatal glycine encephalopathy
ENSG00000178449	Isolated cytochrome C oxidase deficiency
ENSG00000178522	Hypoplastic amelogenesis imperfecta
ENSG00000178537	Carnitine-acylcarnitine translocase deficiency
ENSG00000178538	Dysequilibrium syndrome
ENSG00000178562	Classic mycosis fungoides,S�zary syndrome
ENSG00000178568	Amyotrophic lateral sclerosis
ENSG00000178573	Cataract-microcornea syndrome,Cerulean cataract,Pulverulent cataract
ENSG00000178623	Primary sclerosing cholangitis
ENSG00000178691	Endometrial stromal sarcoma
ENSG00000178726	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly,Thrombomodulin-related bleeding disorder
ENSG00000178802	MPI-CDG
ENSG00000178814	5-oxoprolinase deficiency
ENSG00000178919	Bamforth-Lazarus syndrome,Differentiated thyroid carcinoma,Familial papillary or follicular thyroid carcinoma
ENSG00000178952	Combined oxidative phosphorylation defect type 4
ENSG00000178971	Coats plus syndrome,Dyskeratosis congenita
ENSG00000179085	DPM3-CDG
ENSG00000179091	Isolated CoQ-cytochrome C reductase deficiency
ENSG00000179111	Autosomal recessive spondylocostal dysostosis
ENSG00000179142	Familial hyperaldosteronism type I,Familial hyperreninemic hypoaldosteronism type 1
ENSG00000179148	Congenital non-bullous ichthyosiform erythroderma,Lamellar ichthyosis,Self-healing collodion baby
ENSG00000179151	Autosomal recessive non-syndromic intellectual disability
ENSG00000179163	Fucosidosis
ENSG00000179218	Essential thrombocythemia,Primary myelofibrosis
ENSG00000179270	Retinitis pigmentosa
ENSG00000179295	Juvenile myelomonocytic leukemia,Metachondromatosis,Noonan syndrome,Noonan syndrome with multiple lentigines
ENSG00000179344	Bullous pemphigoid,Idiopathic achalasia,Narcolepsy-cataplexy syndrome,Narcolepsy without cataplexy
ENSG00000179348	Deafness-lymphedema-leukemia syndrome,Inherited acute myeloid leukemia,Monocytopenia with susceptibility to infections,Myelodysplastic syndrome
ENSG00000179455	Idiopathic central precocious puberty
ENSG00000179456	Distal monosomy 1q
ENSG00000179477	Congenital non-bullous ichthyosiform erythroderma,Lamellar ichthyosis,Self-healing collodion baby
ENSG00000179520	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000179583	Immunodeficiency by defective expression of HLA class 2
ENSG00000179630	Systemic-onset juvenile idiopathic arthritis
ENSG00000179774	Congenital cataract microcornea with corneal opacity,Persistent hyperplastic primary vitreous
ENSG00000179855	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000179915	Pitt-Hopkins-like syndrome
ENSG00000179941	Bardet-Biedl syndrome
ENSG00000179981	External auditory canal aplasia/hypoplasia
ENSG00000180053	Familial atrial fibrillation,Tetralogy of Fallot,Truncus arteriosus
ENSG00000180176	Autosomal recessive dopa-responsive dystonia
ENSG00000180210	Cerebral sinovenous thrombosis,Congenital factor II deficiency
ENSG00000180228	Dystonia 16
ENSG00000180316	Congenital non-bullous ichthyosiform erythroderma
ENSG00000180318	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ENSG00000180340	Autosomal dominant omodysplasia
ENSG00000180398	Combined deficiency of factor V and factor VIII
ENSG00000180447	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000180509	Familial atrial fibrillation,Jervell and Lange-Nielsen syndrome,Romano-Ward syndrome
ENSG00000180644	Familial hemophagocytic lymphohistiocytosis,Fatal post-viral neurodegenerative disorder,Idiopathic aplastic anemia
ENSG00000180772	X-linked non-syndromic intellectual disability
ENSG00000180871	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
ENSG00000180879	SSR4-CDG
ENSG00000180902	D-2-hydroxyglutaric aciduria
ENSG00000180921	Hypocalcified amelogenesis imperfecta
ENSG00000181004	Bardet-Biedl syndrome
ENSG00000181027	Autosomal recessive limb-girdle muscular dystrophy type 2I,Congenital muscular dystrophy with cerebellar involvement,Congenital muscular dystrophy with intellectual disability,Congenital muscular dystrophy without intellectual disability,Muscle-eye-brain disease,Walker-Warburg syndrome
ENSG00000181038	Autosomal recessive non-syndromic intellectual disability
ENSG00000181090	Kleefstra syndrome due to 9q34 microdeletion,Kleefstra syndrome due to a point mutation
ENSG00000181163	Acute myeloblastic leukemia with maturation,Acute myeloblastic leukemia without maturation,Acute myeloid leukemia with NPM1 somatic mutations,Acute promyelocytic leukemia,Lymphomatoid papulosis,Primary cutaneous anaplastic large cell lymphoma
ENSG00000181192	2-aminoadipic 2-oxoadipic aciduria,Autosomal dominant Charcot-Marie-Tooth disease type 2Q
ENSG00000181392	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000181449	Anophthalmia/microphthalmia-esophageal atresia syndrome,Isolated anophthalmia-microphthalmia syndrome,Septo-optic dysplasia spectrum
ENSG00000181481	Overgrowth-macrocephaly-facial dysmorphism syndrome
ENSG00000181523	Sanfilippo syndrome type A
ENSG00000181541	Colobomatous microphthalmia-rhizomelic dysplasia syndrome
ENSG00000181544	Fanconi anemia,VACTERL with hydrocephalus
ENSG00000181555	Sotos syndrome
ENSG00000181585	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000181634	Primary biliary cholangitis
ENSG00000181690	Pleomorphic salivary gland adenoma
ENSG00000181722	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
ENSG00000181830	Leukocyte adhesion deficiency type II
ENSG00000181873	Autosomal recessive spastic paraplegia 74,Fatal multiple mitochondrial dysfunctions syndrome type 3
ENSG00000182004	Hypotrichosis simplex
ENSG00000182040	Usher syndrome type 1
ENSG00000182054	Anaplastic astrocytoma,Anaplastic oligoastrocytoma,Anaplastic oligodendroglioma,D-2-hydroxyglutaric aciduria,Enchondromatosis,Fibrillary astrocytoma,Gemistocytic astrocytoma,Maffucci syndrome,Oligoastrocytoma,Oligodendroglioma,Protoplasmic astrocytoma
ENSG00000182117	Dyskeratosis congenita
ENSG00000182150	Pancytopenia-developmental delay syndrome
ENSG00000182158	Myxofibrosarcoma
ENSG00000182173	Pontocerebellar hypoplasia type 1,Pontocerebellar hypoplasia type 2,Pontocerebellar hypoplasia type 4,Pontocerebellar hypoplasia type 5
ENSG00000182180	Combined oxidative phosphorylation defect type 2
ENSG00000182187	Early-onset anterior polar cataract,Early-onset lamellar cataract,Total early-onset cataract
ENSG00000182197	Chondrosarcoma,Langer-Giedion syndrome,Multiple osteochondromas
ENSG00000182220	X-linked intellectual disability, Hedera type,X-linked parkinsonism-spasticity syndrome
ENSG00000182287	Fried syndrome,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
ENSG00000182326	Ehlers-Danlos syndrome, periodontitis type,Immunodeficiency due to a classical component pathway complement deficiency
ENSG00000182372	CLN8 disease,Progressive epilepsy-intellectual disability syndrome, Finnish type
ENSG00000182389	Episodic ataxia type 5,Juvenile myoclonic epilepsy
ENSG00000182492	X-linked spondyloepimetaphyseal dysplasia
ENSG00000182512	Adult-onset autosomal recessive sideroblastic anemia,Spasticity-ataxia-gait anomalies syndrome
ENSG00000182533	Autosomal dominant limb-girdle muscular dystrophy type 1C,Rippling muscle disease,Romano-Ward syndrome
ENSG00000182578	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
ENSG00000182621	Malignant migrating partial seizures of infancy,West syndrome
ENSG00000182636	Prader-Willi syndrome due to imprinting mutation,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
ENSG00000182774	Blackfan-Diamond anemia
ENSG00000182858	ALG12-CDG
ENSG00000182866	Severe combined immunodeficiency due to LCK deficiency
ENSG00000182871	Knobloch syndrome
ENSG00000182872	TARP syndrome
ENSG00000182899	Blackfan-Diamond anemia
ENSG00000182923	Autosomal recessive primary microcephaly
ENSG00000182944	Desmoplastic small round cell tumor,Ewing sarcoma,Extraskeletal Ewing sarcoma,Extraskeletal myxoid chondrosarcoma,Melanoma of soft tissue
ENSG00000183010	Autosomal recessive cutis laxa type 2B,Geroderma osteodysplastica,PYCR1-related De Barsy syndrome
ENSG00000183044	Gamma-aminobutyric acid transaminase deficiency
ENSG00000183072	Athyreosis,Atrial septal defect-atrioventricular conduction defects syndrome,Atrial septal defect, ostium secundum type,Deletion 5q35,Familial atrial fibrillation,Familial isolated congenital asplenia,Familial progressive cardiac conduction defect,Hypoplastic left heart syndrome,Tetralogy of Fallot,Thyroid ectopia
ENSG00000183091	Childhood-onset nemaline myopathy,Intermediate nemaline myopathy,Nebulin-related early-onset distal myopathy,Severe congenital nemaline myopathy,Typical nemaline myopathy
ENSG00000183098	Autosomal recessive omodysplasia
ENSG00000183161	Fanconi anemia
ENSG00000183196	Macular corneal dystrophy
ENSG00000183230	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
ENSG00000183287	Hennekam syndrome
ENSG00000183337	Clear cell sarcoma of kidney,Microphthalmia, Lenz type,Oculofaciocardiodental syndrome
ENSG00000183421	Bartsocas-Papas syndrome
ENSG00000183423	Congenital stationary night blindness
ENSG00000183454	Continuous spikes and waves during sleep,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,Landau-Kleffner syndrome,Rolandic epilepsy,Rolandic epilepsy-speech dyspraxia syndrome
ENSG00000183513	Fatal infantile cytochrome C oxidase deficiency
ENSG00000183542	Beh�et disease
ENSG00000183605	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
ENSG00000183638	Occult macular dystrophy
ENSG00000183691	Brachydactyly type B2,Multiple synostoses syndrome,Proximal symphalangism,Stapes ankylosis with broad thumbs and toes,Tarsal-carpal coalition syndrome
ENSG00000183735	Amyotrophic lateral sclerosis,Frontotemporal dementia with motor neuron disease,Herpes simplex encephalitis
ENSG00000183763	Seckel syndrome
ENSG00000183765	Familial prostate cancer,Hereditary breast and ovarian cancer syndrome,Li-Fraumeni syndrome,Osteosarcoma
ENSG00000183770	Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome,Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome,Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
ENSG00000183785	Polymicrogyria with optic nerve hypoplasia
ENSG00000183862	Isolated congenital anosmia
ENSG00000183873	Atrial standstill,Brugada syndrome,Familial atrial fibrillation,Familial isolated dilated cardiomyopathy,Familial progressive cardiac conduction defect,Familial sick sinus syndrome,Idiopathic ventricular fibrillation, non Brugada type,Romano-Ward syndrome
ENSG00000183876	Autosomal recessive spastic paraplegia type 66
ENSG00000183918	X-linked lymphoproliferative disease
ENSG00000183978	Isolated cytochrome C oxidase deficiency
ENSG00000184009	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Baraitser-Winter cerebrofrontofacial syndrome
ENSG00000184047	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000184056	Arthrogryposis-renal dysfunction-cholestasis syndrome
ENSG00000184058	22q11.2 deletion syndrome,22q11.2 deletion syndrome,22q11.2 microduplication syndrome
ENSG00000184144	Benign adult familial myoclonic epilepsy
ENSG00000184154	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000184156	Benign familial infantile epilepsy,Benign familial neonatal epilepsy,Juvenile myoclonic epilepsy
ENSG00000184216	Pediatric systemic lupus erythematosus
ENSG00000184254	Isolated anophthalmia-microphthalmia syndrome
ENSG00000184292	Gelatinous drop-like corneal dystrophy
ENSG00000184302	14q22q23 microdeletion syndrome,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,Isolated anophthalmia-microphthalmia syndrome
ENSG00000184304	Malignant epithelial tumor of salivary glands
ENSG00000184344	Colobomatous microphthalmia,Isolated anophthalmia-microphthalmia syndrome,Isolated Klippel-Feil syndrome
ENSG00000184381	Adult-onset dystonia-parkinsonism,Infantile neuroaxonal dystrophy
ENSG00000184470	Familial glucocorticoid deficiency,Familial isolated dilated cardiomyopathy
ENSG00000184500	Hereditary thrombophilia due to congenital protein S deficiency
ENSG00000184507	NUT midline carcinoma
ENSG00000184564	Autosomal recessive non-syndromic sensorineural deafness type DFNB,High myopia-sensorineural deafness syndrome
ENSG00000184584	STING-associated vasculopathy with onset in infancy
ENSG00000184634	Blepharophimosis-intellectual disability syndrome, MKB type,FG syndrome type 1,X-linked intellectual disability with marfanoid habitus,X-linked non-syndromic intellectual disability
ENSG00000184640	Neuralgic amyotrophy
ENSG00000184675	Osteopathia striata-cranial sclerosis syndrome
ENSG00000184743	Hereditary sensory and autonomic neuropathy type 1
ENSG00000184752	Leigh syndrome with leukodystrophy
ENSG00000184895	45,X/46,XY mixed gonadal dysgenesis,46,XX ovotesticular disorder of sex development,46,XX testicular disorder of sex development,46,XY complete gonadal dysgenesis,46,XY partial gonadal dysgenesis
ENSG00000184908	Classic Bartter syndrome,Gitelman syndrome,Infantile Bartter syndrome with sensorineural deafness
ENSG00000184923	Endometrial stromal sarcoma
ENSG00000184937	Denys-Drash syndrome,Desmoplastic small round cell tumor,Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Frasier syndrome,Meacham syndrome,Nephroblastoma,Nephroblastoma,Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,WAGR syndrome
ENSG00000185000	Congenital chronic diarrhea with protein-losing enteropathy
ENSG00000185002	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
ENSG00000185008	Familial vesicoureteral reflux
ENSG00000185010	Mild hemophilia A,Moderately severe hemophilia A,Severe hemophilia A,Symptomatic form of hemophilia A in female carriers
ENSG00000185024	Cerebellar-facial-dental syndrome
ENSG00000185049	Wolf-Hirschhorn syndrome
ENSG00000185129	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ENSG00000185231	Familial glucocorticoid deficiency
ENSG00000185245	Bernard-Soulier syndrome,Fetal and neonatal alloimmune thrombocytopenia,Pseudo-von Willebrand disease
ENSG00000185303	Idiopathic pulmonary fibrosis
ENSG00000185313	Brugada syndrome,Channelopathy-associated congenital insensitivity to pain,Paroxysmal extreme pain disorder,Primary erythermalgia,Sodium channelopathy-related small fiber neuropathy
ENSG00000185339	Transcobalamin deficiency
ENSG00000185344	Autosomal recessive cutis laxa type 2, classic type,Wrinkly skin syndrome
ENSG00000185345	Young-onset Parkinson disease
ENSG00000185379	Hereditary breast and ovarian cancer syndrome
ENSG00000185467	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
ENSG00000185479	Pachyonychia congenita
ENSG00000185482	Native American myopathy
ENSG00000185499	Autosomal dominant medullary cystic kidney disease without hyperuricemia
ENSG00000185515	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
ENSG00000185527	Retinitis pigmentosa
ENSG00000185532	Familial thoracic aortic aneurysm and aortic dissection
ENSG00000185551	Complete atrioventricular canal,Partial atrioventricular canal
ENSG00000185559	Maternal 14q32.2 hypermethylation syndrome,Maternal 14q32.2 microdeletion syndrome,Maternal uniparental disomy of chromosome 14,Paternal 14q32.2 hypomethylation syndrome,Paternal 14q32.2 microdeletion syndrome,Paternal uniparental disomy of chromosome 14
ENSG00000185624	Cole-Carpenter syndrome
ENSG00000185630	Precursor B-cell acute lymphoblastic leukemia
ENSG00000185803	Autosomal recessive cerebellar ataxia-blindness-deafness syndrome,Riboflavin transporter deficiency
ENSG00000185811	Pancytopenia due to IKZF1 mutations,Precursor B-cell acute lymphoblastic leukemia,Stevens-Johnson syndrome
ENSG00000185825	CADDS,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
ENSG00000185900	Congenital muscular dystrophy with cerebellar involvement,Limb-girdle muscular dystrophy due to POMK deficiency,Walker-Warburg syndrome
ENSG00000185920	Alobar holoprosencephaly,Gorlin syndrome,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Monosomy 9q22.3,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000185946	Isolated growth hormone deficiency type IA
ENSG00000185960	Langer mesomelic dysplasia,L�ri-Weill dyschondrosteosis,SHOX-related short stature
ENSG00000185963	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
ENSG00000185974	Congenital stationary night blindness,Oguchi disease
ENSG00000186010	Differentiated thyroid carcinoma,Leigh syndrome with leukodystrophy
ENSG00000186073	Congenital dyserythropoietic anemia type I
ENSG00000186081	Dowling-Degos disease,Epidermolysis bullosa simplex, Dowling-Meara type,Epidermolysis bullosa simplex with circinate migratory erythema,Epidermolysis bullosa simplex with mottled pigmentation,Generalized epidermolysis bullosa simplex, non-Dowling-Meara type,Localized epidermolysis bullosa simplex
ENSG00000186104	Hypocalcemic vitamin D-dependent rickets
ENSG00000186111	Lethal congenital contracture syndrome type 3
ENSG00000186115	Vitamin K antagonists toxicity or dose selection
ENSG00000186153	46,XY partial gonadal dysgenesis,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,Squamous cell carcinoma of esophagus,Undetermined early-onset epileptic encephalopathy
ENSG00000186184	Treacher-Collins syndrome
ENSG00000186197	Autosomal dominant hypohidrotic ectodermal dysplasia,Autosomal recessive hypohidrotic ectodermal dysplasia,Oligodontia
ENSG00000186326	Bradyopsia
ENSG00000186335	Iminoglycinuria
ENSG00000186395	Annular epidermolytic ichthyosis,Congenital reticular ichthyosiform erythroderma,Epidermolytic ichthyosis
ENSG00000186439	Catecholaminergic polymorphic ventricular tachycardia
ENSG00000186442	Meesmann corneal dystrophy
ENSG00000186472	Pontocerebellar hypoplasia type 3
ENSG00000186510	Infantile Bartter syndrome with sensorineural deafness
ENSG00000186575	Neurofibromatosis type 2,Neurofibromatosis type 3
ENSG00000186687	Isolated CoQ-cytochrome C reductase deficiency
ENSG00000186716	Chronic myeloid leukemia,Distal 22q11.2 microdeletion syndrome,Precursor B-cell acute lymphoblastic leukemia,Precursor T-cell acute lymphoblastic leukemia
ENSG00000186765	Retinitis pigmentosa
ENSG00000186790	Congenital primary aphakia,Familial ocular anterior segment mesenchymal dysgenesis,Familial thoracic aortic aneurysm and aortic dissection,Peters anomaly
ENSG00000186827	Combined immunodeficiency due to OX40 deficiency
ENSG00000186832	Epidermolytic palmoplantar keratoderma,Pachyonychia congenita
ENSG00000186847	Dermatopathia pigmentosa reticularis,Epidermolysis bullosa simplex, Dowling-Meara type,Epidermolysis bullosa simplex with mottled pigmentation,Generalized epidermolysis bullosa simplex, non-Dowling-Meara type,KRT14-related epidermolysis bullosa simplex,Localized epidermolysis bullosa simplex,Naegeli-Franceschetti-Jadassohn syndrome
ENSG00000186862	Usher syndrome type 2
ENSG00000186868	Behavioral variant of frontotemporal dementia,Classic progressive supranuclear palsy syndrome,Progressive non-fluent aphasia,Progressive supranuclear palsy-corticobasal syndrome,Progressive supranuclear palsy-parkinsonism syndrome,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,Semantic dementia
ENSG00000186895	Deafness with labyrinthine aplasia, microtia, and microdontia,Oculootodental syndrome,Otodental syndrome
ENSG00000187010	Rh deficiency syndrome
ENSG00000187017	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000187045	IRIDA syndrome
ENSG00000187049	Joubert syndrome with oculorenal defect,Joubert syndrome with orofaciodigital defect,Meckel syndrome
ENSG00000187079	Helicoid peripapillary chorioretinal degeneration
ENSG00000187091	Leukonychia totalis
ENSG00000187098	Clear cell papillary renal cell carcinoma,Familial melanoma,MITF-related melanoma and renal cell carcinoma predisposition syndrome,Ocular albinism with congenital sensorineural deafness,Papillary renal cell carcinoma,Tietz syndrome,Waardenburg syndrome type 2
ENSG00000187191	Partial chromosome Y deletion
ENSG00000187240	Jeune syndrome,Short rib-polydactyly syndrome, Majewski type,Short rib-polydactyly syndrome, Verma-Naumoff type
ENSG00000187242	Meesmann corneal dystrophy
ENSG00000187266	Primary familial polycythemia
ENSG00000187288	CIDEC-related familial partial lipodystrophy
ENSG00000187323	Familial congenital mirror movements
ENSG00000187486	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,DEND syndrome,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,Intermediate DEND syndrome,MODY,Permanent neonatal diabetes mellitus,Transient neonatal diabetes mellitus
ENSG00000187498	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,COL4A1-related familial vascular leukoencephalopathy,Familial porencephaly,Pontine autosomal dominant microangiopathy with leukoencephalopathy,Retinal arterial tortuosity,Schizencephaly,Walker-Warburg syndrome
ENSG00000187535	Jeune syndrome,Leber congenital amaurosis,Retinitis pigmentosa,Saldino-Mainzer syndrome
ENSG00000187553	Focal facial dermal dysplasia type IV
ENSG00000187566	Lafora disease
ENSG00000187608	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ENSG00000187676	Peters plus syndrome
ENSG00000187678	Kallmann syndrome,Non-seminomatous germ cell tumor of testis,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000187714	Presynaptic congenital myasthenic syndromes
ENSG00000187726	Primary ciliary dyskinesia
ENSG00000187730	1p36 deletion syndrome,Generalized epilepsy with febrile seizures-plus,Juvenile myoclonic epilepsy
ENSG00000187736	Cernunnos-XLF deficiency
ENSG00000187741	Fanconi anemia
ENSG00000187742	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
ENSG00000187772	Neuroblastoma
ENSG00000187790	Fanconi anemia
ENSG00000187796	Predisposition to invasive fungal disease due to CARD9 deficiency
ENSG00000187848	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000187955	Punctate palmoplantar keratoderma type 1
ENSG00000188021	Amyotrophic lateral sclerosis
ENSG00000188037	Thomsen and Becker disease
ENSG00000188070	Ependymoma
ENSG00000188095	Autosomal recessive spondylocostal dysostosis
ENSG00000188107	Retinitis pigmentosa
ENSG00000188120	Partial chromosome Y deletion
ENSG00000188153	X-linked Alport syndrome,X-linked diffuse leiomyomatosis-Alport syndrome
ENSG00000188157	Postsynaptic congenital myasthenic syndromes,Presynaptic congenital myasthenic syndromes
ENSG00000188158	Early-onset nuclear cataract,Nance-Horan syndrome,Total early-onset cataract
ENSG00000188162	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000188191	PRKAR1B-related neurodegenerative dementia with intermediate filaments
ENSG00000188199	Clear cell sarcoma of kidney,Endometrial stromal sarcoma
ENSG00000188419	Choroideremia
ENSG00000188452	Retinitis pigmentosa
ENSG00000188467	Oculocutaneous albinism type 6
ENSG00000188517	Congenital ptosis,Duane retraction syndrome
ENSG00000188536	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,Hb Bart's hydrops fetalis,Hemoglobin H disease,Hemoglobin M disease
ENSG00000188603	CLN3 disease
ENSG00000188613	Male infertility with azoospermia or oligozoospermia due to single gene mutation,Male infertility with teratozoospermia due to single gene mutation
ENSG00000188641	1p21.3 microdeletion syndrome,5-fluorouracil toxicity,Dihydropyrimidine dehydrogenase deficiency
ENSG00000188672	Rh deficiency syndrome
ENSG00000188690	Congenital erythropoietic porphyria
ENSG00000188706	X-linked intellectual disability with marfanoid habitus
ENSG00000188827	Fanconi anemia
ENSG00000188906	Hereditary late-onset Parkinson disease,Young-onset Parkinson disease
ENSG00000188910	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Erythrokeratodermia variabilis,Neuropathy with hearing impairment
ENSG00000188937	Congenital stationary night blindness
ENSG00000189043	Leigh syndrome with leukodystrophy
ENSG00000189056	Autosomal dominant epilepsy with auditory features,Lissencephaly syndrome, Norman-Roberts type
ENSG00000189057	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
ENSG00000189067	Charcot-Marie-Tooth disease type 1C
ENSG00000189114	Hermansky-Pudlak syndrome type 8
ENSG00000189221	Monoamine oxidase A deficiency
ENSG00000189241	Sudden infant death-dysgenesis of the testes syndrome
ENSG00000189283	Hereditary clear cell renal cell carcinoma
ENSG00000189433	Erythrokeratodermia variabilis
ENSG00000196091	Digitotalar dysmorphism,Lethal congenital contracture syndrome type 3
ENSG00000196092	Precursor B-cell acute lymphoblastic leukemia,Precursor B-cell acute lymphoblastic leukemia
ENSG00000196126	Bullous pemphigoid,Diffuse cutaneous systemic sclerosis,Follicular lymphoma,Limited cutaneous systemic sclerosis,Limited systemic sclerosis,Narcolepsy-cataplexy syndrome,Narcolepsy without cataplexy,Sarcoidosis,Systemic-onset juvenile idiopathic arthritis
ENSG00000196155	Spinocerebellar ataxia type 4
ENSG00000196159	Cerebro-facio-articular syndrome,Hennekam syndrome
ENSG00000196177	2-methylbutyryl-CoA dehydrogenase deficiency
ENSG00000196189	Cone rod dystrophy,Familial colorectal cancer Type X,Retinitis pigmentosa
ENSG00000196218	Autosomal dominant centronuclear myopathy,Benign Samaritan congenital myopathy,Central core disease,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with myasthenic-like onset,King-Denborough syndrome,Lethal multiple pterygium syndrome,Malignant hyperthermia of anesthesia,Moderate multiminicore disease with hand involvement
ENSG00000196220	Pilocytic astrocytoma
ENSG00000196230	Multiple benign circumferential skin creases on limbs
ENSG00000196236	Late-onset nephronophthisis
ENSG00000196296	Brody myopathy
ENSG00000196365	CODAS syndrome
ENSG00000196415	Granulomatosis with polyangiitis
ENSG00000196431	Cataract-microcornea syndrome,Early-onset lamellar cataract
ENSG00000196459	Spondyloepiphyseal dysplasia tarda
ENSG00000196468	Syndactyly type 8
ENSG00000196511	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
ENSG00000196549	Charcot-Marie-Tooth disease type 2T
ENSG00000196557	Childhood absence epilepsy
ENSG00000196565	Hemoglobinopathy Toms River,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
ENSG00000196569	Congenital muscular dystrophy type 1A
ENSG00000196584	Fanconi anemia,Hereditary breast cancer
ENSG00000196586	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
ENSG00000196588	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
ENSG00000196611	Severe generalized recessive dystrophic epidermolysis bullosa
ENSG00000196628	Autosomal dominant non-syndromic intellectual disability,Fuchs endothelial corneal dystrophy,Pitt-Hopkins syndrome,Primary sclerosing cholangitis
ENSG00000196660	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
ENSG00000196663	Autosomal recessive spastic paraplegia type 49
ENSG00000196712	17q11.2 microduplication syndrome,17q11 microdeletion syndrome,Juvenile myelomonocytic leukemia,Neurofibromatosis-Noonan syndrome,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
ENSG00000196735	Adult-onset myasthenia gravis,Idiopathic achalasia
ENSG00000196739	Steel syndrome
ENSG00000196743	GM2 gangliosidosis, AB variant
ENSG00000196767	Developmental delay-deafness syndrome, Hildebrand type,X-linked mixed deafness with perilymphatic gusher
ENSG00000196811	Autosomal recessive multiple pterygium syndrome,Lethal multiple pterygium syndrome
ENSG00000196839	Omenn syndrome,Severe combined immunodeficiency due to adenosine deaminase deficiency
ENSG00000196876	Benign familial infantile epilepsy,Infantile convulsions and choreoathetosis,Undetermined early-onset epileptic encephalopathy
ENSG00000196878	Generalized junctional epidermolysis bullosa, non-Herlitz type,Hypoplastic amelogenesis imperfecta,Junctional epidermolysis bullosa, Herlitz type
ENSG00000196924	Congenital short bowel syndrome,Congenital valvular dysplasia,Ehlers-Danlos syndrome with periventricular heterotopia,Frontometaphyseal dysplasia,Melnick-Needles syndrome,Neuronal intestinal pseudoobstruction,Otopalatodigital syndrome type 1,Otopalatodigital syndrome type 2,Periventricular nodular heterotopia,Terminal osseous dysplasia-pigmentary defects syndrome
ENSG00000196998	Beta-propeller protein-associated neurodegeneration
ENSG00000197102	Autosomal dominant Charcot-Marie-Tooth disease type 2O,Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures,Autosomal dominant non-syndromic intellectual disability
ENSG00000197106	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
ENSG00000197110	Response to antiviral treatment in hepatitis C
ENSG00000197121	Autosomal recessive non-syndromic intellectual disability,Autosomal recessive spastic paraplegia type 67
ENSG00000197249	Alpha-1-antitrypsin deficiency,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
ENSG00000197256	Woolly hair-palmoplantar keratoderma syndrome
ENSG00000197265	Trichothiodystrophy
ENSG00000197283	Autosomal dominant non-syndromic intellectual disability
ENSG00000197299	Bloom syndrome
ENSG00000197323	Differentiated thyroid carcinoma
ENSG00000197375	Systemic primary carnitine deficiency
ENSG00000197386	Huntington disease,Juvenile Huntington disease
ENSG00000197408	Efavirenz toxicity
ENSG00000197417	Isolated sedoheptulokinase deficiency
ENSG00000197467	Postsynaptic congenital myasthenic syndromes,Presynaptic congenital myasthenic syndromes
ENSG00000197496	Arterial tortuosity syndrome
ENSG00000197535	Griscelli disease type 1,Griscelli disease type 3,Neuroectodermal melanolysosomal disease
ENSG00000197561	Autosomal dominant severe congenital neutropenia,Cyclic neutropenia
ENSG00000197563	Fryns syndrome,Multiple congenital anomalies-hypotonia-seizures syndrome
ENSG00000197565	X-linked diffuse leiomyomatosis-Alport syndrome,X-linked non-syndromic sensorineural deafness type DFN
ENSG00000197579	Retinitis pigmentosa
ENSG00000197594	Autosomal recessive hypophosphatemic rickets,Generalized arterial calcification of infancy,Hypopigmentation-punctate palmoplantar keratoderma syndrome,Pseudoxanthoma elasticum
ENSG00000197601	Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
ENSG00000197603	Joubert syndrome,Joubert syndrome with orofaciodigital defect,Monomelic amyotrophy
ENSG00000197614	Familial thoracic aortic aneurysm and aortic dissection
ENSG00000197616	Atrial septal defect, ostium secundum type,Familial isolated dilated cardiomyopathy,Familial sick sinus syndrome
ENSG00000197694	West syndrome
ENSG00000197728	Blackfan-Diamond anemia
ENSG00000197746	Atypical Gaucher disease due to saposin C deficiency,Encephalopathy due to prosaposin deficiency,Infantile Krabbe disease,Metachromatic leukodystrophy, adult form,Metachromatic leukodystrophy, juvenile form,Metachromatic leukodystrophy, late infantile form
ENSG00000197753	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000197766	Recurrent Neisseria infections due to factor D deficiency
ENSG00000197779	X-linked non-syndromic intellectual disability
ENSG00000197822	Congenital intrauterine infection-like syndrome
ENSG00000197859	Geleophysic dysplasia
ENSG00000197879	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000197891	Hereditary renal hypouricemia
ENSG00000197912	Primary lateral sclerosis,Spastic paraplegia type 7
ENSG00000197943	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,PLCG2-associated antibody deficiency and immune dysregulation
ENSG00000197969	Choreoacanthocytosis
ENSG00000198001	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
ENSG00000198003	Primary ciliary dyskinesia
ENSG00000198026	Microcephalic primordial dwarfism due to ZNF335 deficiency
ENSG00000198087	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000198130	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
ENSG00000198198	Early infantile epileptic encephalopathy without suppression burst
ENSG00000198223	Hereditary pulmonary alveolar proteinosis
ENSG00000198246	Dysosteosclerosis,H syndrome
ENSG00000198286	BENTA disease,Persistent polyclonal B-cell lymphocytosis,Severe combined immunodeficiency due to CARD11 deficiency
ENSG00000198331	Hydrolethalus,Joubert syndrome
ENSG00000198336	Familial atrial fibrillation
ENSG00000198363	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
ENSG00000198380	Congenital myasthenic syndromes with glycosylation defect
ENSG00000198400	Differentiated thyroid carcinoma,Familial medullary thyroid carcinoma,Hereditary sensory and autonomic neuropathy type 4,Hereditary sensory and autonomic neuropathy type 5
ENSG00000198467	Cap myopathy,Childhood-onset nemaline myopathy,Congenital fiber-type disproportion myopathy,Digitotalar dysmorphism,Sheldon-Hall syndrome,Typical nemaline myopathy
ENSG00000198513	Autosomal dominant spastic paraplegia type 3,Hereditary sensory and autonomic neuropathy type 1
ENSG00000198515	Retinitis pigmentosa
ENSG00000198523	Familial isolated dilated cardiomyopathy
ENSG00000198569	Hereditary hypophosphatemic rickets with hypercalciuria
ENSG00000198570	Leber congenital amaurosis
ENSG00000198589	Combined immunodeficiency due to LRBA deficiency
ENSG00000198610	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
ENSG00000198626	Catecholaminergic polymorphic ventricular tachycardia,Familial isolated arrhythmogenic ventricular dysplasia, biventricular form,Familial isolated arrhythmogenic ventricular dysplasia, left dominant form,Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
ENSG00000198642	KLHL9-related childhood-onset distal myopathy
ENSG00000198650	Tyrosinemia type 2
ENSG00000198668	Catecholaminergic polymorphic ventricular tachycardia,Romano-Ward syndrome
ENSG00000198677	Syndromic diarrhea
ENSG00000198682	Autosomal recessive brachyolmia,Spondyloepimetaphyseal dysplasia, PAPSS2 type
ENSG00000198689	Christianson syndrome
ENSG00000198690	Karyomegalic interstitial nephritis,Lynch syndrome
ENSG00000198691	Cone rod dystrophy,Retinitis pigmentosa,Stargardt disease
ENSG00000198695	Leber hereditary optic neuropathy,Leber plus disease,Maternally-inherited Leigh syndrome,MELAS
ENSG00000198707	Bardet-Biedl syndrome,Joubert syndrome with oculorenal defect,Leber congenital amaurosis,Meckel syndrome,Senior-Loken syndrome
ENSG00000198712	Isolated cytochrome C oxidase deficiency,MELAS
ENSG00000198719	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000198727	Histiocytoid cardiomyopathy,Isolated CoQ-cytochrome C reductase deficiency,Leber hereditary optic neuropathy
ENSG00000198732	Microphthalmia with limb anomalies
ENSG00000198734	Budd-Chiari syndrome,Cerebral sinovenous thrombosis,Congenital factor V deficiency,East Texas bleeding disorder
ENSG00000198758	Marie Unna hereditary hypotrichosis
ENSG00000198763	Isolated complex I deficiency,Leber hereditary optic neuropathy,Maternally-inherited Leigh syndrome
ENSG00000198786	Leber hereditary optic neuropathy,Maternally-inherited Leigh syndrome,MELAS,MERRF
ENSG00000198793	Isolated focal cortical dysplasia type IIa,Isolated focal cortical dysplasia type IIb,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ENSG00000198799	Ochoa syndrome
ENSG00000198804	Genetic recurrent myoglobinuria,Isolated cytochrome C oxidase deficiency,Leber hereditary optic neuropathy,MELAS,Mitochondrial non-syndromic sensorineural deafness,Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
ENSG00000198805	Purine nucleoside phosphorylase deficiency
ENSG00000198807	Oligodontia
ENSG00000198814	Glycerol kinase deficiency, adult form,Glycerol kinase deficiency, infantile form,Glycerol kinase deficiency, juvenile form
ENSG00000198821	Oligoarticular juvenile idiopathic arthritis,Rheumatoid factor-negative juvenile idiopathic arthritis,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
ENSG00000198824	Autosomal dominant non-syndromic intellectual disability
ENSG00000198835	Autosomal recessive spastic paraplegia type 44,Milroy disease,Pelizaeus-Merzbacher-like disease due to GJC2 mutation
ENSG00000198836	Autosomal dominant optic atrophy, classic form,Autosomal dominant optic atrophy plus syndrome,Behr syndrome
ENSG00000198840	Isolated complex I deficiency,Leber plus disease,Maternally-inherited Leigh syndrome
ENSG00000198851	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
ENSG00000198860	Pontocerebellar hypoplasia type 2
ENSG00000198886	Leber hereditary optic neuropathy,Leber plus disease,Maternally-inherited Leigh syndrome,MELAS,Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
ENSG00000198888	Isolated complex I deficiency,Leber hereditary optic neuropathy,Maternally-inherited Leigh syndrome,MELAS
ENSG00000198899	Familial infantile bilateral striatal necrosis,Leber hereditary optic neuropathy,Maternally-inherited Leigh syndrome,Maternally-inherited spastic paraplegia,NARP syndrome,Periodic paralysis with later-onset distal motor neuropathy
ENSG00000198910	Hydrocephalus with stenosis of the aqueduct of Sylvius,MASA syndrome,X-linked complicated corpus callosum dysgenesis,X-linked complicated spastic paraplegia type 1
ENSG00000198920	Joubert syndrome with orofaciodigital defect
ENSG00000198929	Romano-Ward syndrome
ENSG00000198931	Adenine phosphoribosyltransferase deficiency
ENSG00000198938	Genetic recurrent myoglobinuria,Isolated cytochrome C oxidase deficiency,Leber hereditary optic neuropathy,MELAS
ENSG00000198947	Becker muscular dystrophy,Duchenne muscular dystrophy,Familial isolated dilated cardiomyopathy,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,X-linked non-syndromic intellectual disability
ENSG00000198951	Alpha-N-acetylgalactosaminidase deficiency type 1,Alpha-N-acetylgalactosaminidase deficiency type 2,Alpha-N-acetylgalactosaminidase deficiency type 3
ENSG00000198954	Goldberg-Shprintzen megacolon syndrome
ENSG00000199158	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000203485	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ENSG00000203618	22q11.2 deletion syndrome,Bernard-Soulier syndrome,Fetal and neonatal alloimmune thrombocytopenia
ENSG00000203667	Isolated cytochrome C oxidase deficiency
ENSG00000203747	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
ENSG00000203782	Keratoderma hereditarium mutilans with ichthyosis,Progressive symmetric erythrokeratodermia
ENSG00000203859	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
ENSG00000203867	Familial isolated dilated cardiomyopathy
ENSG00000203877	Autosomal recessive spondylocostal dysostosis
ENSG00000203879	X-linked non-syndromic intellectual disability
ENSG00000203883	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ENSG00000203908	Complete hydatidiform mole,Partial hydatidiform mole
ENSG00000204020	Lamellar ichthyosis
ENSG00000204103	Duane retraction syndrome,Multicentric carpo-tarsal osteolysis with or without nephropathy
ENSG00000204104	Senior-Loken syndrome
ENSG00000204120	Hereditary late-onset Parkinson disease
ENSG00000204217	Drug- or toxin-induced pulmonary arterial hypertension,Heritable pulmonary arterial hypertension,Pulmonary venoocclusive disease
ENSG00000204248	Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Fibrochondrogenesis,Otospondylomegaepiphyseal dysplasia,Stickler syndrome type 3,Weissenbacher- Zweymuller syndrome
ENSG00000204262	Ehlers-Danlos syndrome type 1,Ehlers-Danlos syndrome type 2
ENSG00000204264	CANDLE syndrome,JMP syndrome,Nakajo-Nishimura syndrome
ENSG00000204267	Immunodeficiency by defective expression of HLA class 1
ENSG00000204287	Graham Little-Piccardi-Lassueur syndrome
ENSG00000204290	Sarcoidosis
ENSG00000204311	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000204351	Syndromic diarrhea
ENSG00000204370	Carcinoid syndrome,Carney-Stratakis syndrome,Cowden syndrome,Hereditary pheochromocytoma-paraganglioma,Isolated succinate-CoQ reductase deficiency,Sporadic pheochromocytoma
ENSG00000204386	Congenital sialidosis type 2,Juvenile sialidosis type 2,Sialidosis type 1
ENSG00000204406	2q23.1 microdeletion syndrome,Autosomal dominant non-syndromic intellectual disability
ENSG00000204525	Precursor B-cell acute lymphoblastic leukemia
ENSG00000204539	Hypotrichosis simplex of the scalp,Peeling skin syndrome type B
ENSG00000204644	Transient neonatal diabetes mellitus
ENSG00000204655	Narcolepsy-cataplexy syndrome
ENSG00000204713	Differentiated thyroid carcinoma
ENSG00000204815	Primary ciliary dyskinesia
ENSG00000204842	Amyotrophic lateral sclerosis,Spinocerebellar ataxia type 2
ENSG00000204843	Amyotrophic lateral sclerosis,Distal hereditary motor neuropathy type 7,Perry syndrome
ENSG00000204852	Joubert syndrome
ENSG00000204897	Woolly hair
ENSG00000204922	Isolated CoQ-cytochrome C reductase deficiency
ENSG00000204928	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000204983	Hereditary chronic pancreatitis
ENSG00000205084	Joubert syndrome with oculorenal defect,Meckel syndrome
ENSG00000205090	Spinocerebellar ataxia type 21
ENSG00000205138	Isolated succinate-CoQ reductase deficiency
ENSG00000205336	Bilateral frontoparietal polymicrogyria,Bilateral perisylvian polymicrogyria
ENSG00000205403	Atypical hemolytic-uremic syndrome with I factor anomaly,De novo thrombotic microangiopathy after kidney transplantation,Familial drusen,HELLP syndrome,Immunodeficiency with factor I anomaly
ENSG00000205413	Familial normophosphatemic tumoral calcinosis
ENSG00000205420	Pachyonychia congenita
ENSG00000205426	Monilethrix
ENSG00000205571	Proximal spinal muscular atrophy type 1,Proximal spinal muscular atrophy type 2,Proximal spinal muscular atrophy type 3,Proximal spinal muscular atrophy type 4
ENSG00000205678	Catecholaminergic polymorphic ventricular tachycardia
ENSG00000205899	Mesoaxial synostotic syndactyly with phalangeal reduction,Tibial aplasia-ectrodactyly syndrome
ENSG00000205916	Partial chromosome Y deletion
ENSG00000205944	Partial chromosome Y deletion
ENSG00000205981	Dilated cardiomyopathy with ataxia
ENSG00000206013	Osteogenesis imperfecta type 5
ENSG00000206172	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,Hb Bart's hydrops fetalis,Hemoglobin H disease,Hemoglobin M disease
ENSG00000206190	Angelman syndrome due to imprinting defect in 15q11-q13
ENSG00000206503	Birdshot chorioretinopathy,Phenytoin or carbamazepine toxicity
ENSG00000206561	Synaptic congenital myasthenic syndromes
ENSG00000207695	EDICT syndrome
ENSG00000209082	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation,Kearns-Sayre syndrome,Maternally-inherited diabetes and deafness,Maternally-inherited Leigh syndrome,Maternally-inherited progressive external ophthalmoplegia,MELAS,MERRF
ENSG00000210049	MELAS,MERRF
ENSG00000210077	Maternally-inherited Leigh syndrome
ENSG00000210107	MELAS,MERRF
ENSG00000210117	Maternally-inherited Leigh syndrome,MELAS
ENSG00000210135	Maternally-inherited progressive external ophthalmoplegia
ENSG00000210151	Maternally-inherited progressive external ophthalmoplegia,MELAS,MERRF,Mitochondrial non-syndromic sensorineural deafness,Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure,Palmoplantar keratoderma-deafness syndrome
ENSG00000210156	Maternally-inherited cardiomyopathy and hearing loss,Maternally-inherited diabetes and deafness,Maternally-inherited Leigh syndrome,MERRF
ENSG00000210176	MELAS,MERRF,Mitochondrial non-syndromic sensorineural deafness
ENSG00000210184	MELAS,MERRF,Usher syndrome type 3
ENSG00000210191	Maternally-inherited progressive external ophthalmoplegia
ENSG00000210194	Maternally-inherited diabetes and deafness,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,Myopathy and diabetes mellitus
ENSG00000210195	Lethal infantile mitochondrial myopathy
ENSG00000210196	MERRF
ENSG00000211459	MERRF,Mitochondrial non-syndromic sensorineural deafness,Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
ENSG00000211592	Recurrent infections associated with rare immunoglobulin isotypes deficiency
ENSG00000211893	Recurrent infections associated with rare immunoglobulin isotypes deficiency
ENSG00000211896	B-cell chronic lymphocytic leukemia
ENSG00000211899	Autosomal agammaglobulinemia
ENSG00000211947	B-cell chronic lymphocytic leukemia
ENSG00000211956	Hairy cell leukemia variant
ENSG00000212907	Leber hereditary optic neuropathy
ENSG00000213024	Familial infantile bilateral striatal necrosis
ENSG00000213139	Early-onset lamellar cataract,Early-onset sutural cataract
ENSG00000213281	Differentiated thyroid carcinoma,Juvenile myelomonocytic leukemia,Large congenital melanocytic nevus,Linear nevus sebaceus syndrome,Noonan syndrome,RAS-associated autoimmune leukoproliferative disease
ENSG00000213316	Hypotonia-failure to thrive-microcephaly syndrome
ENSG00000213341	Fetal encasement syndrome
ENSG00000213380	COG8-CDG
ENSG00000213398	Familial LCAT deficiency,Fish-eye disease
ENSG00000213614	Tay-Sachs disease, B1 variant,Tay-Sachs disease, B variant, adult form,Tay-Sachs disease, B variant, infantile form,Tay-Sachs disease, B variant, juvenile form
ENSG00000213619	Isolated complex I deficiency,Leigh syndrome with leukodystrophy
ENSG00000213638	Intellectual disability-strabismus syndrome
ENSG00000213689	Aicardi-Gouti�res syndrome,Chilblain lupus,Retinal vasculopathy and cerebral leukoencephalopathy
ENSG00000213741	Blackfan-Diamond anemia
ENSG00000213853	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes,Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation,Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis,Idiopathic steroid-sensitive nephrotic syndrome with minimal change
ENSG00000213892	Autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000213930	Classic galactosemia
ENSG00000213934	Delta-beta-thalassemia,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
ENSG00000214113	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
ENSG00000214140	Retinitis pigmentosa
ENSG00000214160	ALG3-CDG
ENSG00000214274	Amyotrophic lateral sclerosis
ENSG00000214413	Bardet-Biedl syndrome
ENSG00000214548	Maternal 14q32.2 hypermethylation syndrome,Maternal 14q32.2 microdeletion syndrome,Maternal uniparental disomy of chromosome 14,Paternal 14q32.2 hypomethylation syndrome,Paternal 14q32.2 microdeletion syndrome,Paternal uniparental disomy of chromosome 14
ENSG00000214960	Autosomal recessive limb-girdle muscular dystrophy type 2U,Congenital muscular dystrophy without intellectual disability,Walker-Warburg syndrome
ENSG00000215193	Infantile Refsum disease,Neonatal adrenoleukodystrophy,Zellweger syndrome
ENSG00000215203	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000215301	Precursor T-cell acute lymphoblastic leukemia,X-linked intellectual disability-hypotonia-movement disorder syndrome
ENSG00000215417	Feingold syndrome type 2
ENSG00000215612	Oculoauricular syndrome, Schorderet type
ENSG00000215644	GCGR-related hyperglucagonemia
ENSG00000217930	Autosomal recessive spondylometaphyseal dysplasia, M�garban� type
ENSG00000218336	Colobomatous microphthalmia
ENSG00000221819	Differentiated thyroid carcinoma
ENSG00000221829	Fanconi anemia
ENSG00000221838	Severe intellectual disability and progressive spastic paraplegia
ENSG00000223609	Delta-beta-thalassemia,Hemoglobin Lepore-beta-thalassemia syndrome
ENSG00000223802	Progressive myoclonic epilepsy type 8
ENSG00000223865	Chronic beryllium disease,Granulomatosis with polyangiitis
ENSG00000223953	Late-onset retinal degeneration
ENSG00000224389	Immunodeficiency due to a classical component pathway complement deficiency
ENSG00000225190	Intermediate osteopetrosis
ENSG00000225614	Brittle cornea syndrome
ENSG00000225830	Cockayne syndrome type 1,Cockayne syndrome type 2,Cockayne syndrome type 3,COFS syndrome,UV-sensitive syndrome
ENSG00000227268	Cowden syndrome,Hereditary breast cancer
ENSG00000228253	Kearns-Sayre syndrome,Periodic paralysis with later-onset distal motor neuropathy
ENSG00000228570	Clear cell sarcoma of kidney
ENSG00000228716	Constitutional megaloblastic anemia with severe neurologic disease
ENSG00000229833	Leigh syndrome with leukodystrophy
ENSG00000230223	Spinocerebellar ataxia type 8
ENSG00000231672	Differentiated thyroid carcinoma,Hereditary clear cell renal cell carcinoma
ENSG00000231852	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
ENSG00000231925	Immunodeficiency by defective expression of HLA class 1
ENSG00000233608	Ablepharon macrostomia syndrome,Barber-Say syndrome,Focal facial dermal dysplasia type III
ENSG00000233927	Blackfan-Diamond anemia
ENSG00000234414	Partial chromosome Y deletion
ENSG00000234438	Childhood-onset nemaline myopathy
ENSG00000234616	Childhood absence epilepsy,Juvenile myoclonic epilepsy
ENSG00000234745	Abacavir toxicity,Allopurinol toxicity,Beh�et disease,Flucloxacilline toxicity,Phenytoin or carbamazepine toxicity,Pulmonary arterial hypertension associated with connective tissue disease,Stevens-Johnson syndrome,Takayasu arteritis
ENSG00000234906	Familial apolipoprotein C-II deficiency
ENSG00000235718	Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,Nanophthalmia
ENSG00000236320	Autosomal dominant thrombocytopenia with platelet secretion defect
ENSG00000237412	Nanophthalmia
ENSG00000239474	Childhood-onset nemaline myopathy,Intermediate nemaline myopathy,Severe congenital nemaline myopathy,Typical nemaline myopathy
ENSG00000239697	Common variable immunodeficiency,Common variable immunodeficiency
ENSG00000239900	Adenylosuccinate lyase deficiency
ENSG00000240505	Common variable immunodeficiency
ENSG00000240972	Systemic-onset juvenile idiopathic arthritis
ENSG00000241186	Alobar holoprosencephaly,Lobar holoprosencephaly,Microform holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000241476	Synovial sarcoma
ENSG00000241635	Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome type 2,Irinotecan toxicity,Raltegravir toxicity,Transient familial neonatal hyperbilirubinemia
ENSG00000241935	Primary hyperoxaluria type 3
ENSG00000241973	Bilateral perisylvian polymicrogyria
ENSG00000242110	Congenital bile acid synthesis defect type 4
ENSG00000242802	Autosomal recessive spastic paraplegia type 48
ENSG00000242866	Autosomal recessive non-syndromic sensorineural deafness type DFNB,Deafness-infertility syndrome
ENSG00000243335	Progressive myoclonic epilepsy type 3
ENSG00000243646	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
ENSG00000243649	Atypical hemolytic-uremic syndrome with B factor anomaly
ENSG00000243989	Neurological conditions associated with aminoacylase 1 deficiency
ENSG00000244005	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
ENSG00000244038	DDOST-CDG
ENSG00000244040	Beh�et disease
ENSG00000244045	TMEM199-CDG
ENSG00000244165	Narcolepsy-cataplexy syndrome
ENSG00000244414	Atypical hemolytic-uremic syndrome with anti-factor H antibodies,C3 glomerulonephritis,Dense deposit disease
ENSG00000244486	Van den Ende-Gupta syndrome
ENSG00000244731	Beh�et disease,Immunodeficiency due to a classical component pathway complement deficiency
ENSG00000244734	Beta-thalassemia intermedia,Beta-thalassemia major,Delta-beta-thalassemia,Dominant beta-thalassemia,Heinz body anemia,Hemoglobin C-beta-thalassemia syndrome,Hemoglobin C disease,Hemoglobin D disease,Hemoglobin E-beta-thalassemia syndrome,Hemoglobin E disease,Hemoglobin Lepore-beta-thalassemia syndrome,Hemoglobin M disease,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,Sickle cell anemia,Sickle cell-beta-thalassemia disease syndrome,Sickle cell-hemoglobin C disease syndrome,Sickle cell-hemoglobin D disease syndrome,Sickle cell-hemoglobin E disease syndrome
ENSG00000244752	Cataract-microcornea syndrome,Cerulean cataract,Early-onset nuclear cataract,Early-onset posterior subcapsular cataract,Early-onset sutural cataract,Pulverulent cataract,Total early-onset cataract
ENSG00000245848	Acute myeloid leukemia with CEBPA somatic mutations,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,Inherited acute myeloid leukemia
ENSG00000247626	Autosomal recessive spastic ataxia with leukoencephalopathy,Combined oxidative phosphorylation deficiency type 25
ENSG00000248098	Classic maple syrup urine disease,Intermediate maple syrup urine disease,Intermittent maple syrup urine disease,Thiamine-responsive maple syrup urine disease
ENSG00000249437	Proximal spinal muscular atrophy type 1,Proximal spinal muscular atrophy type 2,Proximal spinal muscular atrophy type 3
ENSG00000250479	Amyotrophic lateral sclerosis,Autosomal dominant mitochondrial myopathy with exercise intolerance,Frontotemporal dementia with motor neuron disease,Lower motor neuron syndrome with late-adult onset
ENSG00000251322	Monosomy 22q13
ENSG00000253710	ALG11-CDG
ENSG00000253729	Severe combined immunodeficiency due to DNA-PKcs deficiency
ENSG00000254585	Prader-Willi syndrome due to imprinting mutation,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,Prader-Willi syndrome due to point mutation
ENSG00000254647	MODY,Permanent neonatal diabetes mellitus
ENSG00000254656	Maternal 14q32.2 hypermethylation syndrome,Maternal 14q32.2 microdeletion syndrome,Maternal uniparental disomy of chromosome 14,Paternal 14q32.2 hypomethylation syndrome,Paternal 14q32.2 microdeletion syndrome,Paternal uniparental disomy of chromosome 14
ENSG00000255072	Hyperphosphatasia-intellectual disability syndrome
ENSG00000256053	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
ENSG00000256061	Primary ciliary dyskinesia
ENSG00000256269	Acute intermittent porphyria
ENSG00000256525	Autosomal dominant progressive external ophthalmoplegia
ENSG00000258366	Dyskeratosis congenita,Hoyeraal-Hreidarsson syndrome,Idiopathic pulmonary fibrosis
ENSG00000258839	Familial melanoma,Large congenital melanocytic nevus,Oculocutaneous albinism type 2
ENSG00000258947	Congenital fibrosis of extraocular muscles,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,Tubulinopathy-associated dysgyria
ENSG00000258992	Partial chromosome Y deletion
ENSG00000259207	Autosomal dominant macrothrombocytopenia,Fetal and neonatal alloimmune thrombocytopenia,Glanzmann thrombasthenia
ENSG00000259384	Isolated growth hormone deficiency type IA,Isolated growth hormone deficiency type IB,Isolated growth hormone deficiency type II,Short stature due to growth hormone qualitative anomaly
ENSG00000260458	Thyrotoxic periodic paralysis
ENSG00000260596	Facioscapulohumeral dystrophy
ENSG00000261609	Giant axonal neuropathy
ENSG00000262919	Syndactyly-telecanthus-anogenital and renal malformations syndrome
ENSG00000263001	Williams syndrome
ENSG00000263639	Familial prostate cancer
ENSG00000263761	Hereditary hemorrhagic telangiectasia
ENSG00000264229	Microcephalic osteodysplastic primordial dwarfism types I and III,Roifman syndrome
ENSG00000265107	Familial atrial fibrillation,Tetralogy of Fallot
ENSG00000265203	Retinitis pigmentosa
ENSG00000265241	Thrombocytopenia-absent radius syndrome
ENSG00000266412	Differentiated thyroid carcinoma
ENSG00000267534	Autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000268221	Blue cone monochromatism,Cone rod dystrophy
ENSG00000268439	Bowen-Conradi syndrome
ENSG00000269335	Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,Hypohidrotic ectodermal dysplasia with immunodeficiency,Incontinentia pigmenti,X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
ENSG00000269404	Primary biliary cholangitis
ENSG00000269556	FRAXF syndrome
ENSG00000269821	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,Isolated hemihyperplasia
ENSG00000270141	Dyskeratosis congenita,Idiopathic aplastic anemia,Idiopathic pulmonary fibrosis
ENSG00000270647	Extraskeletal myxoid chondrosarcoma
ENSG00000272047	Trichothiodystrophy
ENSG00000272395	Response to antiviral treatment in hepatitis C
ENSG00000273079	Autosomal dominant non-syndromic intellectual disability,West syndrome
ENSG00000273706	17q12 microdeletion syndrome
ENSG00000273820	X-linked non-syndromic intellectual disability
ENSG00000274286	Benign adult familial myoclonic epilepsy
ENSG00000275410	17q12 microdeletion syndrome,Autosomal dominant primary hypomagnesemia with hypocalciuria,Bilateral multicystic dysplastic kidney,Familial prostate cancer,Renal cysts and diabetes syndrome,Unilateral multicystic dysplastic kidney
ENSG00000275896	Hereditary chronic pancreatitis
ENSG00000276045	Combined immunodeficiency due to ORAI1 deficiency,Tubular aggregate myopathy
ENSG00000277027	Anauxetic dysplasia,Cartilage-hair hypoplasia,Omenn syndrome
ENSG00000277161	Hyperphosphatasia-intellectual disability syndrome
ENSG00000277399	Congenital stationary night blindness
ENSG00000277494	Familial chylomicronemia syndrome
ENSG00000277586	Autosomal dominant Charcot-Marie-Tooth disease type 2E,Charcot-Marie-Tooth disease type 1F,Severe early-onset axonal neuropathy due to NEFL deficiency
ENSG00000277734	TCR-alpha-beta-positive T-cell deficiency
ENSG00000277893	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency,Familial prostate cancer
ENSG00000278570	Goldmann-Favre syndrome,Retinitis pigmentosa
ENSG00000280757	Facioscapulohumeral dystrophy
ENSG00000281344	HELLP syndrome
ENSG00000283122,Paternal uniparental disomy of chromosome 6,Transient neonatal diabetes mellitus