Add hereditary spastic paraplegia subtypes

Issue #1470

Author: allenbaron

src/ontology/doid-edit.owl

@@ -2825,7 +2825,14 @@ Declaration(Class(obo:DOID_0070636))
 Declaration(Class(obo:DOID_0070637))
 Declaration(Class(obo:DOID_0070638))
 Declaration(Class(obo:DOID_0070639))
+Declaration(Class(obo:DOID_0070640))
+Declaration(Class(obo:DOID_0070641))
+Declaration(Class(obo:DOID_0070642))
+Declaration(Class(obo:DOID_0070643))
 Declaration(Class(obo:DOID_0070644))
+Declaration(Class(obo:DOID_0070645))
+Declaration(Class(obo:DOID_0070646))
+Declaration(Class(obo:DOID_0070647))
 Declaration(Class(obo:DOID_0080000))
 Declaration(Class(obo:DOID_0080001))
 Declaration(Class(obo:DOID_0080005))
@@ -53030,6 +53037,65 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070639 "MIM:616059")
 SubClassOf(obo:DOID_0070639 obo:DOID_0111153)
 SubClassOf(obo:DOID_0070639 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0070640 (hereditary spastic paraplegia 18A)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29528531/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32094424/") obo:IAO_0000115 obo:DOID_0070640 "A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070640 "MIM:620512")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070640 "autosomal dominant spastic paraplegia 18")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070640 "spastic paraplegia 18A")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070640 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070640 "DOID:0070640")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070640 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070640 "hereditary spastic paraplegia 18A")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070640 "MIM:620512")
+SubClassOf(obo:DOID_0070640 obo:DOID_0110771)
+SubClassOf(obo:DOID_0070640 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0070641 (hereditary spastic paraplegia 18B)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21330303/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21796390/") obo:IAO_0000115 obo:DOID_0070641 "A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070641 "MIM:611225")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070641 "IDMDC")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070641 "autosomal recessive spastic paraplegia 18")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070641 "autosomal recessive spastic paraplegia type 18")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070641 "intellectual disability, motor dysfunction and joint contractures")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070641 "spastic paraplegia 18B")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070641 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070641 "DOID:0070641")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070641 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070641 "hereditary spastic paraplegia 18B")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070641 "MIM:611225")
+SubClassOf(obo:DOID_0070641 obo:DOID_0110771)
+SubClassOf(obo:DOID_0070641 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070642 (hereditary spastic paraplegia 72B)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24388663/") obo:IAO_0000115 obo:DOID_0070642 "A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070642 "MIM:620606")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070642 "autosomal recessive spastic paraplegia 72")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070642 "spastic paraplegia 72B")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070642 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070642 "DOID:0070642")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070642 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070642 "hereditary spastic paraplegia 72B")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070642 "MIM:620606")
+SubClassOf(obo:DOID_0070642 obo:DOID_2476)
+SubClassOf(obo:DOID_0070642 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070643 (hereditary spastic paraplegia 91)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35150594/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36331550/") obo:IAO_0000115 obo:DOID_0070643 "A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070643 "MIM:620538")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070643 "autosomal dominant spastic paraplegia 91")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070643 "autosomal dominant spastic paraplegia 91 with or without cerebellar ataxia")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070643 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070643 "DOID:0070643")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070643 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070643 "hereditary spastic paraplegia 91")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070643 "MIM:620538")
+SubClassOf(obo:DOID_0070643 obo:DOID_2476)
+SubClassOf(obo:DOID_0070643 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # Class: obo:DOID_0070644 (hereditary spastic paraplegia 92)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36136088/") obo:IAO_0000115 obo:DOID_0070644 "A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23.")
@@ -53044,6 +53110,46 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070644 "MIM:620911")
 SubClassOf(obo:DOID_0070644 obo:DOID_2476)
 SubClassOf(obo:DOID_0070644 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0070645 (hereditary spastic paraplegia 93)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36256512/") obo:IAO_0000115 obo:DOID_0070645 "A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070645 "MIM:620938")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070645 "autosomal recessive spastic paraplegia 93")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070645 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070645 "DOID:0070645")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070645 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070645 "hereditary spastic paraplegia 93")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070645 "MIM:620938")
+SubClassOf(obo:DOID_0070645 obo:DOID_2476)
+SubClassOf(obo:DOID_0070645 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070646 (hereditary spastic paraplegia 30B)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21487076/") obo:IAO_0000115 obo:DOID_0070646 "A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070646 "MIM:620607")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070646 "autosomal recessive spastic paraplegia 30")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070646 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070646 "DOID:0070646")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070646 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070646 "hereditary spastic paraplegia 30B")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070646 "MIM:620607")
+SubClassOf(obo:DOID_0070646 obo:DOID_0110781)
+SubClassOf(obo:DOID_0070646 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070647 (hereditary spastic paraplegia 30A)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31488895/") obo:IAO_0000115 obo:DOID_0070647 "A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070647 "MIM:610357")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070647 "autosomal dominant spastic paraplegia 30")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070647 "spastic paraplegia 30A")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070647 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070647 "DOID:0070647")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070647 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070647 "hereditary spastic paraplegia 30A")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070647 "MIM:610357")
+SubClassOf(obo:DOID_0070647 obo:DOID_0110781)
+SubClassOf(obo:DOID_0070647 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # Class: obo:DOID_0080000 (muscular disease)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")
@@ -81888,19 +81994,16 @@ SubClassOf(obo:DOID_0110770 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21330303") obo:IAO_0000115 obo:DOID_0110771 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110771 "GARD:4922")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110771 "ICD10CM:G11.4")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110771 "MIM:611225")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110771 "ORDO:209951")
-AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110771 "IDMDC")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110771 "SPG18")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110771 "autosomal recessive spastic paraplegia 18")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110771 "autosomal recessive spastic paraplegia type 18")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110771 "intellectual disability, motor dysfunction and joint contractures")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110771 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0110771 "DOID:0110771")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0110771 doid:DO_rare_slim)
 AnnotationAssertion(rdfs:label obo:DOID_0110771 "hereditary spastic paraplegia 18")
+AnnotationAssertion(skos:broadMatch obo:DOID_0110771 "ICD10CM:G11.4")
+AnnotationAssertion(skos:exactMatch obo:DOID_0110771 "GARD:4922")
+AnnotationAssertion(skos:exactMatch obo:DOID_0110771 "ORDO:209951")
 SubClassOf(obo:DOID_0110771 obo:DOID_2476)
-SubClassOf(obo:DOID_0110771 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
 # Class: obo:DOID_0110772 (hereditary spastic paraplegia 19)
 
@@ -82059,16 +82162,15 @@ SubClassOf(obo:DOID_0110780 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31488895/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21487076") obo:IAO_0000115 obo:DOID_0110781 "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110781 "ICD10CM:G11.4")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110781 "MIM:610357")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110781 "ORDO:101010")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110781 "SPG30")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110781 "autosomal spastic paraplegia type 30")
-AnnotationAssertion(oboInOwl:hasNarrowSynonym obo:DOID_0110781 "autosomal dominant spastic paraplegia 30")
-AnnotationAssertion(oboInOwl:hasNarrowSynonym obo:DOID_0110781 "autosomal recessive spastic paraplegia 30")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110781 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0110781 "DOID:0110781")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0110781 doid:DO_rare_slim)
 AnnotationAssertion(rdfs:label obo:DOID_0110781 "hereditary spastic paraplegia 30")
+AnnotationAssertion(skos:broadMatch obo:DOID_0110781 "ICD10CM:G11.4")
+AnnotationAssertion(skos:exactMatch obo:DOID_0110781 "ORDO:101010")
 SubClassOf(obo:DOID_0110781 obo:DOID_2476)
 SubClassOf(obo:DOID_0110781 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000934))
 
@@ -82660,7 +82762,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110817 "ICD10CM:G11.4")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110817 "MIM:615625")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110817 "ORDO:401849")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110817 "SPG72")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110817 "autosomal spastic paraplegia type 72")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110817 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0110817 "DOID:0110817")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0110817 doid:DO_rare_slim)