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Add lethal congenital contracture syndrome 12
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src/ontology/doid-edit.owl

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@@ -2320,6 +2320,7 @@ Declaration(Class(obo:DOID_0061264))
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Declaration(Class(obo:DOID_0061265))
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Declaration(Class(obo:DOID_0061266))
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Declaration(Class(obo:DOID_0061267))
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Declaration(Class(obo:DOID_0061268))
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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))
@@ -45322,6 +45323,15 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061267 "DOID:0061267")
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AnnotationAssertion(rdfs:label obo:DOID_0061267 "lethal congenital contracture syndrome 11")
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SubClassOf(obo:DOID_0061267 obo:DOID_0060558)
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# Class: obo:DOID_0061268 (lethal congenital contracture syndrome 12)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/40497796/") obo:IAO_0000115 obo:DOID_0061268 "A lethal congenital contracture syndrome characterized by onset in utero that results in death in utero or during the perinatal period unless there is significant medical intervention, including mechanical ventilation and parenteral/ tube-feeding; however these patients also die in infancy or in the first years of life that has_material_basis_in homozygous mutation in the dystonin gene on chromosome 6p12.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061268 "MIM:621511")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061268 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061268 "DOID:0061268")
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AnnotationAssertion(rdfs:label obo:DOID_0061268 "lethal congenital contracture syndrome 12")
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SubClassOf(obo:DOID_0061268 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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