Add Brunet-Wagner neurodevelopmental syndrome

Issue #1455

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -2156,6 +2156,7 @@ Declaration(Class(obo:DOID_0061122))
 Declaration(Class(obo:DOID_0061123))
 Declaration(Class(obo:DOID_0061124))
 Declaration(Class(obo:DOID_0061125))
+Declaration(Class(obo:DOID_0061126))
 Declaration(Class(obo:DOID_0061128))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
@@ -43907,6 +43908,17 @@ SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003593))
 SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0002048))
 
+# Class: obo:DOID_0061126 (Brunet-Wagner neurodevelopmental syndrome)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33980986/") obo:IAO_0000115 obo:DOID_0061126 "An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061126 "MIM:619690")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061126 "BRUWAG")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061126 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061126 "DOID:0061126")
+AnnotationAssertion(rdfs:label obo:DOID_0061126 "Brunet-Wagner neurodevelopmental syndrome")
+SubClassOf(obo:DOID_0061126 obo:DOID_0060308)
+SubClassOf(obo:DOID_0061126 obo:DOID_225)
+
 # Class: obo:DOID_0061128 (mucopolysaccharidosis X)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34916232/") obo:IAO_0000115 obo:DOID_0061128 "A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15.")
@@ -44807,7 +44819,7 @@ SubClassOf(obo:DOID_0070072 obo:DOID_0060307)
 
 # Class: obo:DOID_0070073 (autosomal dominant intellectual developmental disorder 43)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27003583") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27003583/") obo:IAO_0000115 obo:DOID_0070073 "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27003583/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27003583") obo:IAO_0000115 obo:DOID_0070073 "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070073 "MIM:616977")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070073 "MRD43")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070073 "autosomal dominant mental retardation 43")
@@ -78023,7 +78035,7 @@ SubClassOf(obo:DOID_0110512 obo:DOID_0050565)
 
 # Class: obo:DOID_0110513 (autosomal recessive nonsyndromic deafness 61)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12719379") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24164807/") obo:IAO_0000115 obo:DOID_0110513 "An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24164807/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12719379") obo:IAO_0000115 obo:DOID_0110513 "An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110513 "ICD10CM:H90.3")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110513 "MIM:613865")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110513 "DFNB61")
@@ -82836,7 +82848,7 @@ SubClassOf(obo:DOID_0110867 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
 
 # Class: obo:DOID_0110868 (congenital stationary night blindness 1D)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20850105") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20850105/") obo:IAO_0000115 obo:DOID_0110868 "A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20850105/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20850105") obo:IAO_0000115 obo:DOID_0110868 "A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110868 "MIM:613830")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110868 "CSNB1D")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110868 "congenital stationary night blindness 1D autosomal recessive")
@@ -91342,7 +91354,7 @@ SubClassOf(obo:DOID_0111464 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 # Class: obo:DOID_0111465 (combined oxidative phosphorylation deficiency 21)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24827421") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34508595/") obo:IAO_0000115 obo:DOID_0111465 "A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34508595/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24827421") obo:IAO_0000115 obo:DOID_0111465 "A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111465 "MIM:615918")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111465 "ORDO:420733")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0111465 "COXPD21")