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Dictionary typos corrections
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csbjohnson committed Aug 21, 2023
1 parent bbc7706 commit 79654c3
Showing 1 changed file with 3 additions and 3 deletions.
6 changes: 3 additions & 3 deletions src/ontology/doid-edit.owl
Original file line number Diff line number Diff line change
Expand Up @@ -32745,7 +32745,7 @@ SubClassOf(obo:DOID_0060351 ObjectSomeValuesFrom(obo:RO_0004019 obo:SO_0001537))

# Class: obo:DOID_0060352 (Kleefstra syndrome 1)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15264279") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16826528") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21245904") obo:IAO_0000115 obo:DOID_0060352 "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15264279") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16826528") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21245904") obo:IAO_0000115 obo:DOID_0060352 "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.")
AnnotationAssertion(oboInOwl:created_by obo:DOID_0060352 "elvira")
AnnotationAssertion(oboInOwl:creation_date obo:DOID_0060352 "2015-07-14T16:49:09Z")
AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0060352 "DOID:0070075")
Expand Down Expand Up @@ -84244,7 +84244,7 @@ AnnotationAssertion(rdfs:label obo:DOID_0111512 "metachondromatosis")
SubClassOf(obo:DOID_0111512 obo:DOID_2256)
SubClassOf(obo:DOID_0111512 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0111513 (metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome)
# Class: obo:DOID_0111513 (metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23290074") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7137223") obo:IAO_0000115 obo:DOID_0111513 "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111513 "GARD:3568")
Expand All @@ -84255,7 +84255,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111513 "metaphyseal dyspl
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111513 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0111513 "DOID:0111513")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0111513 doid:DO_rare_slim)
AnnotationAssertion(rdfs:label obo:DOID_0111513 "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome")
AnnotationAssertion(rdfs:label obo:DOID_0111513 "metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome")
SubClassOf(obo:DOID_0111513 obo:DOID_2256)
SubClassOf(obo:DOID_0111513 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

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