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Add lethal congenital contracture syndrome 8
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src/ontology/doid-edit.owl

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@@ -2316,6 +2316,7 @@ Declaration(Class(obo:DOID_0061260))
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Declaration(Class(obo:DOID_0061261))
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Declaration(Class(obo:DOID_0061262))
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Declaration(Class(obo:DOID_0061263))
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Declaration(Class(obo:DOID_0061264))
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Declaration(Class(obo:DOID_0070000))
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Declaration(Class(obo:DOID_0070001))
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Declaration(Class(obo:DOID_0070002))
@@ -45282,6 +45283,15 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061263 "DOID:0061263")
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AnnotationAssertion(rdfs:label obo:DOID_0061263 "lethal congenital contracture syndrome 7")
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SubClassOf(obo:DOID_0061263 obo:DOID_0060558)
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# Class: obo:DOID_0061264 (lethal congenital contracture syndrome 8)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24319099/") obo:IAO_0000115 obo:DOID_0061264 "A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mutation in the ADCY6 gene on chromosome 12q13.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061264 "MIM:616287")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061264 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061264 "DOID:0061264")
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AnnotationAssertion(rdfs:label obo:DOID_0061264 "lethal congenital contracture syndrome 8")
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SubClassOf(obo:DOID_0061264 obo:DOID_0060558)
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# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.")

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