Add gene and update mitochondrial DNA depletion syndrome 15

#1090

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -20282,18 +20282,18 @@ SubClassOf(obo:DOID_0050444 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000047
 # Class: obo:DOID_0050445 (X-linked hypophosphatemic rickets)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK83985/") obo:IAO_0000115 obo:DOID_0050445 "A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050445 "GARD:12943")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050445 "MESH:D053098")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050445 "MIM:307800")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050445 "NCI:C85234")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050445 "UMLS_CUI:C0733682")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050445 "UMLS_CUI:C1845168")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050445 "UMLS_CUI:C3540852")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050445 "GARD:12943")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050445 "Hypophosphatemia, Vitamin D-Resistant Rickets")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050445 "Vitamin D-Resistant Rickets, X-Linked")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050445 "X-linked dominant hypophosphatemic rickets")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050445 "X-linked hypophosphatemia")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050445 "hypophosphatemic rickets X-linked dominant")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050445 "X-linked dominant hypophosphatemic rickets")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050445 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0050445 "DOID:0050445")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050445 doid:NCIthesaurus)
@@ -56061,7 +56061,7 @@ SubClassOf(obo:DOID_0080336 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0012758))
 
 # Class: obo:DOID_0080337 (mitochondrial DNA depletion syndrome 15)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/TFAM#conditions") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27448789") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579") obo:IAO_0000115 obo:DOID_0080337 "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/TFAM#conditions") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27448789") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579") obo:IAO_0000115 obo:DOID_0080337 "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080337 "MIM:617156")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080337 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0080337 "DOID:0080337")