updating nomenclature

Author: lschriml

src/ontology/doid-edit.owl

@@ -1113,6 +1113,7 @@ Declaration(Class(obo:DOID_0051050))
 Declaration(Class(obo:DOID_0051051))
 Declaration(Class(obo:DOID_0051052))
 Declaration(Class(obo:DOID_0051053))
+Declaration(Class(obo:DOID_0051054))
 Declaration(Class(obo:DOID_0060000))
 Declaration(Class(obo:DOID_0060001))
 Declaration(Class(obo:DOID_0060002))
@@ -25076,7 +25077,6 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
 AnnotationAssertion(oboInOwl:created_by obo:DOID_0050776 "lschriml")
 AnnotationAssertion(oboInOwl:creation_date obo:DOID_0050776 "2013-02-21T12:06:40Z")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050776 "MIM:300716")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050776 "MIM:PS309530")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050776 "ORDO:777")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050776 "non-specific X-linked mental retardation")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050776 "disease_ontology")
@@ -28668,6 +28668,15 @@ AnnotationAssertion(rdfs:label obo:DOID_0051053 "congenital disorder of glycosyl
 SubClassOf(obo:DOID_0051053 obo:DOID_0050571)
 SubClassOf(obo:DOID_0051053 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0051054 (X-linked intellectual developmental disorder 95)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18455129/") obo:IAO_0000115 obo:DOID_0051054 "A non-syndromic X-linked intellectual disability that has_material_basis_in a a mutation in the MAGT1 gene.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051054 "MIM:300716")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051054 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0051054 "DOID:0051054")
+AnnotationAssertion(rdfs:label obo:DOID_0051054 "X-linked intellectual developmental disorder 95")
+SubClassOf(obo:DOID_0051054 obo:DOID_0050776)
+
 # Class: obo:DOID_0060000 (infective endocarditis)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis") Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infective_endocarditis") obo:IAO_0000115 obo:DOID_0060000 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.")
@@ -43659,7 +43668,7 @@ SubClassOf(obo:DOID_0070012 obo:DOID_0050569)
 
 # Class: obo:DOID_0070013 (Seckel syndrome 2)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21998596") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11781686/") obo:IAO_0000115 obo:DOID_0070013 "A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11781686/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21998596") obo:IAO_0000115 obo:DOID_0070013 "A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070013 "MESH:C537534")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070013 "MIM:606744")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070013 "SCKL2")
@@ -47384,7 +47393,7 @@ SubClassOf(obo:DOID_0070291 obo:DOID_0070296)
 
 # Class: obo:DOID_0070292 (primary autosomal recessive microcephaly 9)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20598275") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15806441/") obo:IAO_0000115 obo:DOID_0070292 "A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15806441/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20598275") obo:IAO_0000115 obo:DOID_0070292 "A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070292 "MIM:614852")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070292 "MCPH9")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070292 "disease_ontology")
@@ -72370,7 +72379,7 @@ SubClassOf(obo:DOID_0110128 obo:DOID_1935)
 
 # Class: obo:DOID_0110129 (Bardet-Biedl syndrome 7)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12567324") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19797195/") obo:IAO_0000115 obo:DOID_0110129 "A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19797195/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12567324") obo:IAO_0000115 obo:DOID_0110129 "A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110129 "GARD:10206")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110129 "ICD10CM:Q87.89")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110129 "MESH:C565916")
@@ -117455,7 +117464,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_11716 doid:NCIthesaurus)
 AnnotationAssertion(rdfs:label obo:DOID_11716 "prediabetes syndrome")
 SubClassOf(obo:DOID_11716 obo:DOID_4194)
 
-# Class: obo:DOID_11717 (neonatal diabetes)
+# Class: obo:DOID_11717 (neonatal diabetes mellitus)
 
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/") obo:IAO_0000115 obo:DOID_11717 "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11717 "ICD10CM:P70.2")
@@ -117469,7 +117478,7 @@ AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_11717 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_11717 "DOID:11717")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_11717 doid:DO_FlyBase_slim)
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_11717 doid:NCIthesaurus)
-AnnotationAssertion(rdfs:label obo:DOID_11717 "neonatal diabetes")
+AnnotationAssertion(rdfs:label obo:DOID_11717 "neonatal diabetes mellitus")
 SubClassOf(obo:DOID_11717 obo:DOID_9351)
 SubClassOf(obo:DOID_11717 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003593))