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Revise 'peeling skin syndrome 3' genetics in definition
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New evidence suggests the variant of CHST8 may not be the cause
in the region of the chromosome linked to this disease.
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allenbaron committed Sep 19, 2024
1 parent 436be35 commit cc89660
Showing 1 changed file with 1 addition and 1 deletion.
2 changes: 1 addition & 1 deletion src/ontology/doid-edit.owl
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Expand Up @@ -48524,7 +48524,7 @@ SubClassOf(obo:DOID_0070521 obo:DOID_0060283)

# Class: obo:DOID_0070522 (peeling skin syndrome 3)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22289416/") obo:IAO_0000115 obo:DOID_0070522 "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CHST8 gene on chromosome 19q13.11."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22289416/") Annotation(rdfs:comment "url:https://pubmed.ncbi.nlm.nih.gov/28204496/") obo:IAO_0000115 obo:DOID_0070522 "A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13."@en)
AnnotationAssertion(oboInOwl:hasBroadSynonym obo:DOID_0070522 "peeling skin syndrome type A"@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070522 "MIM:616265")
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070522 "PSS3"@en)
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