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merge glioma susceptibility 9
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close #6714
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@nicolevasilevsky
nicolevasilevsky committed Jan 4, 2024
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Showing 1 changed file with 20 additions and 28 deletions.
48 changes: 20 additions & 28 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -307832,6 +307832,7 @@ xref: OMIM:615134 {source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="OMIM:615134"}
xref: UMLS:C3554574 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:615134"}
is_a: MONDO:0020573 {source="OMIM:615134"} ! inherited disease susceptibility
is_a: MONDO:0100242 {source="OMIM:615134"} ! glioma susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 ! TERT
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
Expand Down Expand Up @@ -315520,27 +315521,35 @@ property_value: confidence "0.5" xsd:double

[Term]
id: MONDO:0014368
name: melanoma, cutaneous malignant, susceptibility to, 10
name: tumor predisposition syndrome 3
subset: gard_rare {source="GARD:18582"}
subset: predisposition
subset: rare
synonym: "CMM10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615848]
synonym: "CMM10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615848]
synonym: "glioma susceptibility 9" EXACT [MONDO:Lexical, OMIM:616568]
synonym: "glioma susceptibility type 9" EXACT [MONDORULE:1, OMIM:616568]
synonym: "GLM9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616568]
synonym: "malignant glioma caused by mutation in POT1" EXACT [MONDO:design_pattern]
synonym: "melanoma, cutaneous malignant, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:615848]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:615848]
synonym: "susceptibility to cutaneous malignant melanoma 10" RELATED [OMIM:615848]
synonym: "POT1 malignant glioma" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POT1 malignant glioma" EXACT [MONDO:design_pattern]
synonym: "susceptibility to cutaneous malignant melanoma 10" EXACT [OMIM:615848]
xref: GARD:18582 {source="OMIM:615848"}
xref: OMIM:615848 {source="MONDO:equivalentTo"}
xref: OMIM:616568 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:251627 {source="OMIM:616568", source="MONDO:relatedTo"}
xref: Orphanet:251630 {source="OMIM:616568", source="MONDO:relatedTo"}
xref: Orphanet:618 {source="OMIM:615848"}
xref: UMLS:C4014476 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"}
xref: UMLS:C4225278 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"}
is_a: MONDO:0020573 {source="OMIM:615848"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17284 ! POT1
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
is_a: MONDO:0024462 {source="OMIM:615848"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:615848"} ! familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17284 {source="MONDO:mim2gene_medgen"} ! POT1
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: confidence "1.6325000000000003" xsd:double
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6714" xsd:anyURI

[Term]
id: MONDO:0014369
Expand Down Expand Up @@ -323659,28 +323668,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/

[Term]
id: MONDO:0014695
name: glioma susceptibility 9
def: "Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Reason: duplicate. This will be merged with MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10
subset: obsoletion_candidate
subset: predisposition
synonym: "glioma susceptibility 9" EXACT [MONDO:Lexical, OMIM:616568]
synonym: "glioma susceptibility type 9" EXACT [MONDORULE:1, OMIM:616568]
synonym: "GLM9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616568]
synonym: "malignant glioma caused by mutation in POT1" EXACT []
synonym: "malignant glioma caused by mutation in Pot1" EXACT [MONDO:design_pattern]
synonym: "POT1 malignant glioma" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Pot1 malignant glioma" EXACT [MONDO:design_pattern]
xref: OMIM:616568 {source="MONDO:equivalentTo"}
xref: Orphanet:251627 {source="OMIM:616568", source="MONDO:relatedTo"}
xref: Orphanet:251630 {source="OMIM:616568", source="MONDO:relatedTo"}
xref: UMLS:C4225278 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"}
intersection_of: MONDO:0100242 ! glioma susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17284 ! POT1
intersection_of: predisposes_towards MONDO:0100342 ! malignant glioma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17284 {source="MONDO:mim2gene_medgen"} ! POT1
name: obsolete glioma susceptibility 9
property_value: IAO:0000231 "http://purl.obolibrary.org/obo/MONDO_TermsMerged" xsd:string
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6714" xsd:anyURI
property_value: IAO:0006012 "2024-02-01" xsd:string
is_obsolete: true
replaced_by: MONDO:0014368

[Term]
id: MONDO:0014696
Expand Down

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