fixes to cmt

monarch-initiative · Jun 1, 2020 · 4b1d7c3 · 4b1d7c3
1 parent 448d399
commit 4b1d7c3
Showing 1 changed file with 4 additions and 9 deletions.
diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo
@@ -63,7 +63,6 @@ property_value: http://purl.org/dc/terms/source http://www.orpha.net/ontology/or
 property_value: http://purl.org/dc/terms/source https://id.nlm.nih.gov/mesh/
 property_value: http://purl.org/dc/terms/source https://rarediseases.info.nih.gov/
 property_value: http://xmlns.com/foaf/0.1/homepage http://obofoundry.org/ontology/mondo.html xsd:anyURI
-owl-axioms: Prefix(owl:=<http://www.w3.org/2002/07/owl#>)\nPrefix(rdf:=<http://www.w3.org/1999/02/22-rdf-syntax-ns#>)\nPrefix(xml:=<http://www.w3.org/XML/1998/namespace>)\nPrefix(xsd:=<http://www.w3.org/2001/XMLSchema#>)\nPrefix(rdfs:=<http://www.w3.org/2000/01/rdf-schema#>)\n\n\nOntology(\nDeclaration(Class(<http://purl.obolibrary.org/obo/MONDO_0010479>))\n\n\n############################\n#   Classes\n############################\n\n# Class: <http://purl.obolibrary.org/obo/MONDO_0010479> (Charcot-Marie-Tooth disease X-linked dominant 6)\n\nDisjointClasses(Annotation(Annotation(rdfs:comment \"Generated by the OWL API (version 4.5.6) https://github.com/owlcs/owlapi on 5/31/20 11:43 PM\"^^xsd:string) rdfs:comment \"DisjointClasses(<http://purl.obolibrary.org/obo/MONDO_0010479>) replaced by DisjointClasses(<http://purl.obolibrary.org/obo/MONDO_0010479> owl:Thing)\"^^xsd:string) <http://purl.obolibrary.org/obo/MONDO_0010479> owl:Thing)\n\n\n)
 
 [Term]
 id: MONDO:0000001
@@ -140658,7 +140657,6 @@ is_a: MONDO:0003847 ! inherited genetic disease
 [Term]
 id: MONDO:0007790
 name: Charcot-Marie-Tooth disease type 3
-def: "(19q13.2) have been implicated." [Orphanet:64748]
 comment: Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit
 subset: ordo_disease {source="Orphanet:64748"}
 synonym: "Charcot-Marie-Tooth disease type 3" EXACT [Orphanet:64748]
@@ -140684,8 +140682,8 @@ xref: OMIM:145900 {source="DOID:0050540", source="MONDO:equivalentTo", source="O
 xref: Orphanet:64748 {source="MONDO:equivalentTo", source="OMIM:145900"}
 xref: SCTID:111499002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.89"}
 xref: UMLS:C0011195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C133087", source="ORDO:64748/e", source="Orphanet:64748", source="OMIM:145900"}
-is_a: MONDO:0015359 {source="Orphanet:64748"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
-is_a: MONDO:0015361 {source="Orphanet:64748"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy
+property_value: excluded_subClassOf MONDO:0015359 {source="Orphanet:64748"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
+property_value: excluded_subClassOf MONDO:0015361 {source="Orphanet:64748"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy
 is_a: MONDO:0015626 {source="DOID:0050540", source="MONDO:Redundant", source="NCIT:C133087", source="OMIM:145900", source="Orphanet:64748/inferred"} ! Charcot-Marie-Tooth disease
 property_value: confidence "0.519607843137255" xsd:double
 
@@ -203228,8 +203226,6 @@ xref: SCTID:763347000 {source="MONDO:equivalentTo"}
 xref: UMLS:C3806702 {source="OMIM:300905", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0015626 {source="DOID:0110207/inferred", source="MONDO:Redundant", source="OMIM:300905", source="Orphanet:352675/inferred"} ! Charcot-Marie-Tooth disease
 is_a: MONDO:0018994 {source="DOID:0110207", source="MONDOLEX:0010479", source="Orphanet:352675"} ! Charcot-Marie-Tooth disease type X
-disjoint_from: owl:Thing {comment="DisjointClasses(<http://purl.obolibrary.org/obo/MONDO_0010479>) replaced by DisjointClasses(<http://purl.obolibrary.org/obo/MONDO_0010479> owl:Thing)"}
-disjoint_from: owl:Thing {comment="DisjointClasses(<http://purl.obolibrary.org/obo/MONDO_0010479>) replaced by DisjointClasses(<http://purl.obolibrary.org/obo/MONDO_0010479> owl:Thing)"}
 
 [Term]
 id: MONDO:0010480
@@ -234116,10 +234112,8 @@ synonym: "CMT2 with vocal cord paresis, autosomal recessive" RELATED [OMIM:60770
 xref: OMIM:607706 {source="MONDO:equivalentTo"}
 xref: Orphanet:101097 {source="MONDO:subClassOf", source="OMIM:607706"}
 xref: UMLS:C1843183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607706"}
-is_a: MONDO:0011916 {source="ORDO:101097/btnt"} ! Charcot-Marie-Tooth disease axonal type 2K
 is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:607706", source="OMIM:607706/inferred"} ! Charcot-Marie-Tooth disease
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15968 {source="mim2gene_medgen"} ! GDAP1
-property_value: confidence "5.357142857142858" xsd:double
 
 [Term]
 id: MONDO:0011899
@@ -359783,7 +359777,8 @@ xref: SCTID:65017003 {source="DOID:0050539"}
 xref: SCTID:715665006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08"}
 xref: UMLS:C0270914 {source="Orphanet:64746", source="MONDO:notFoundInDiseaseSubset"}
 xref: UMLS:C0392553 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050539"}
-is_a: MONDO:0015360 {source="Orphanet:64746"} ! autosomal dominant hereditary axonal motor and sensory neuropathy
+is_a: MONDO:0015626 {source="MONDO:cjm"} ! Charcot-Marie-tooth disease
+property_value: excluded_subClassOf MONDO:0015360 {source="Orphanet:64746"} ! autosomal dominant hereditary axonal motor and sensory neuropathy
 
 [Term]
 id: MONDO:0018994