Add congenital disorder of deglycosylation 2 and review congenital di…

…sorder of deglycosylation 1 nomenclature

src/ontology/doid-edit.owl

@@ -1966,6 +1966,7 @@ Declaration(Class(obo:DOID_0060986))
 Declaration(Class(obo:DOID_0060987))
 Declaration(Class(obo:DOID_0060988))
 Declaration(Class(obo:DOID_0060989))
+Declaration(Class(obo:DOID_0060990))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -37909,21 +37910,21 @@ AnnotationAssertion(rdfs:label obo:DOID_0060720 "autosomal recessive congenital
 SubClassOf(obo:DOID_0060720 obo:DOID_0060655)
 SubClassOf(obo:DOID_0060720 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
 
-# Class: obo:DOID_0060728 (NGLY1-deficiency)
+# Class: obo:DOID_0060728 (congenital disorder of deglycosylation 1)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24651605") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27388694") obo:IAO_0000115 obo:DOID_0060728 "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24."@en)
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24651605") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27388694") obo:IAO_0000115 obo:DOID_0060728 "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24."@en)
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060728 "ICD10CM:E77.8")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060728 "MESH:C000626124")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060728 "MIM:615273")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060728 "ORDO:404454")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0060728 "NGLY1-CDDG"@en)
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060728 "congenital disorder of deglycosylation"@en)
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060728 "NGLY1-deficiency"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060728 "congenital disorder of glycosylation type Iv"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060728 "deficiency of N-glycanase 1"@en)
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060728 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0060728 "DOID:0060728")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060728 doid:DO_rare_slim)
-AnnotationAssertion(rdfs:label obo:DOID_0060728 "NGLY1-deficiency"@en)
+AnnotationAssertion(rdfs:label obo:DOID_0060728 "congenital disorder of deglycosylation 1"@en)
 SubClassOf(obo:DOID_0060728 obo:DOID_2978)
 SubClassOf(obo:DOID_0060728 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
@@ -41632,6 +41633,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0060989 "short stature, facial dysmorphi
 SubClassOf(obo:DOID_0060989 obo:DOID_225)
 SubClassOf(obo:DOID_0060989 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
+# Class: obo:DOID_0060990 (congenital disorder of deglycosylation 2)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url: https://pubmed.ncbi.nlm.nih.gov/35045343/") obo:IAO_0000115 obo:DOID_0060990 "A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in  homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060990 "MIM:619775")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060990 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060990 "DOID:0060990")
+AnnotationAssertion(rdfs:label obo:DOID_0060990 "congenital disorder of deglycosylation 2"@en)
+SubClassOf(obo:DOID_0060990 obo:DOID_2978)
+SubClassOf(obo:DOID_0060990 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
 
 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."@en)