added new autosomal dominant adult-onset demyelinating leukodystrophy…

… subtype, removed en tags

src/ontology/doid-edit.owl

@@ -1072,6 +1072,7 @@ Declaration(Class(obo:DOID_0051010))
 Declaration(Class(obo:DOID_0051011))
 Declaration(Class(obo:DOID_0051012))
 Declaration(Class(obo:DOID_0051013))
+Declaration(Class(obo:DOID_0051014))
 Declaration(Class(obo:DOID_0060000))
 Declaration(Class(obo:DOID_0060001))
 Declaration(Class(obo:DOID_0060002))
@@ -28156,6 +28157,17 @@ AnnotationAssertion(rdfs:comment obo:DOID_0051013 "PHP Ic appears to differ from
 AnnotationAssertion(rdfs:label obo:DOID_0051013 "pseudohypoparathyroidism type 1C")
 SubClassOf(obo:DOID_0051013 obo:DOID_4184)
 
+# Class: obo:DOID_0051014 (atypical autosomal dominant adult-onset demyelinating leukodystrophy)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/39078102/") obo:IAO_0000115 obo:DOID_0051014 "A leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051014 "MIM:621061")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051014 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0051014 "DOID:0051014")
+AnnotationAssertion(rdfs:label obo:DOID_0051014 "atypical autosomal dominant adult-onset demyelinating leukodystrophy")
+SubClassOf(obo:DOID_0051014 obo:DOID_10579)
+SubClassOf(obo:DOID_0051014 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+SubClassOf(obo:DOID_0051014 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
+
 # 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.")
@@ -39039,9 +39051,9 @@ AnnotationAssertion(rdfs:label obo:DOID_0060784 "ectrodactyly, ectodermal dyspla
 SubClassOf(obo:DOID_0060784 obo:DOID_0060782)
 SubClassOf(obo:DOID_0060784 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
-# Class: obo:DOID_0060785 (adult-onset autosomal dominant demyelinating leukodystrophy)
+# Class: obo:DOID_0060785 (typical adult-onset autosomal dominant demyelinating leukodystrophy)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16951681") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19151023") obo:IAO_0000115 obo:DOID_0060785 "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16951681") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19151023") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK338165/") obo:IAO_0000115 obo:DOID_0060785 "A leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060785 "GARD:10587")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060785 "MIM:169500")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060785 "ORDO:99027")
@@ -39053,7 +39065,8 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060785 "autosomal-dominan
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060785 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0060785 "DOID:0060785")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060785 doid:DO_rare_slim)
-AnnotationAssertion(rdfs:label obo:DOID_0060785 "adult-onset autosomal dominant demyelinating leukodystrophy")
+AnnotationAssertion(rdfs:label obo:DOID_0060785 "typical adult-onset autosomal dominant demyelinating leukodystrophy")
+AnnotationAssertion(skos:broadMatch obo:DOID_0060785 "ORDO:99027")
 SubClassOf(obo:DOID_0060785 obo:DOID_10579)
 SubClassOf(obo:DOID_0060785 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 SubClassOf(obo:DOID_0060785 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
@@ -42241,7 +42254,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061026 "ORDO:98867")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061026 "HPP")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061026 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0061026 "DOID:0061026")
-AnnotationAssertion(rdfs:label obo:DOID_0061026 "hereditary pyropoikilocytosis"@en)
+AnnotationAssertion(rdfs:label obo:DOID_0061026 "hereditary pyropoikilocytosis")
 SubClassOf(obo:DOID_0061026 obo:DOID_583)
 SubClassOf(obo:DOID_0061026 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
@@ -42252,7 +42265,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061027 "MIM:126800")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061027 "DURS1")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061027 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0061027 "DOID:0061027")
-AnnotationAssertion(rdfs:label obo:DOID_0061027 "Duane retraction syndrome 1"@en)
+AnnotationAssertion(rdfs:label obo:DOID_0061027 "Duane retraction syndrome 1")
 SubClassOf(obo:DOID_0061027 obo:DOID_12557)
 SubClassOf(obo:DOID_0061027 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
@@ -42263,7 +42276,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061028 "MIM:604356")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061028 "DURS2")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061028 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0061028 "DOID:0061028")
-AnnotationAssertion(rdfs:label obo:DOID_0061028 "Duane retraction syndrome 2"@en)
+AnnotationAssertion(rdfs:label obo:DOID_0061028 "Duane retraction syndrome 2")
 SubClassOf(obo:DOID_0061028 obo:DOID_12557)
 SubClassOf(obo:DOID_0061028 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
@@ -124632,8 +124645,8 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12961 "MIM:173800")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12961 "NCI:C85017")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12961 "SNOMEDCT_US_2023_03_01:205524002")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12961 "UMLS_CUI:C0032357")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12961 "Poland's syndactyly")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12961 "Poland anomaly")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12961 "Poland's syndactyly")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_12961 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_12961 "DOID:12961")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_12961 doid:DO_rare_slim)