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reclassify susceptibility to familial cutaneous melanoma
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@nicolevasilevsky
nicolevasilevsky committed Jan 4, 2024
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Showing 1 changed file with 18 additions and 14 deletions.
32 changes: 18 additions & 14 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -154294,7 +154294,7 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 ! PTEN
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018453 {source="Orphanet:404560/btnt"} ! familial atypical multiple mole melanoma syndrome
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:155600"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:155600"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: confidence "1.6325000000000003" xsd:double
Expand Down Expand Up @@ -154333,7 +154333,7 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0000426 {source="DOID:10041", source="OMIM:155601"} ! autosomal dominant disease
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:155601"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:155601"} ! susceptibility to familial cutaneous melanoma
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:155601"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 {source="MONDO:mim2gene_medgen"} ! CDKN2A
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
Expand Down Expand Up @@ -257239,7 +257239,7 @@ xref: Orphanet:618 {source="OMIM:608035"}
xref: UMLS:C1842643 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608035"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:608035"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:608035"} ! susceptibility to familial cutaneous melanoma
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/4521" xsd:anyURI
Expand Down Expand Up @@ -262614,7 +262614,7 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1773 ! CDK4
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:609048"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:609048"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1773 {source="MONDO:mim2gene_medgen"} ! CDK4
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: confidence "1.6325000000000003" xsd:double
Expand Down Expand Up @@ -278176,7 +278176,7 @@ xref: UMLS:C2677089 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoun
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 ! hereditary disease
relationship: excluded_subClassOf MONDO:0018961 {source="MONDO:cjm"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:612263"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:612263"} ! susceptibility to familial cutaneous melanoma
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/4521" xsd:anyURI
Expand Down Expand Up @@ -285194,7 +285194,7 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6929 ! MC1R
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:613099"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:613099"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6929 {source="MONDO:mim2gene_medgen"} ! MC1R
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: confidence "1.6325000000000003" xsd:double
Expand Down Expand Up @@ -294567,7 +294567,7 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12830 ! XRCC3
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:613972"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:613972"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12830 {source="MONDO:mim2gene_medgen"} ! XRCC3
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
Expand Down Expand Up @@ -300518,7 +300518,7 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 ! MITF
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:293822"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:614456"} ! familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:614456"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: confidence "1.6325000000000003" xsd:double
Expand Down Expand Up @@ -315537,16 +315537,16 @@ 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: OMIM:616568 {source="MONDO:equivalentObsolete"}
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
is_a: MONDO:0024462 {source="OMIM:615848"} ! familial cutaneous melanoma
is_a: MONDO:0024462 {source="OMIM:615848"} ! susceptibility to 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: excluded_subClassOf MONDO:0024462 {source="OMIM:615848"} ! susceptibility to 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: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6714" xsd:anyURI
Expand Down Expand Up @@ -466837,14 +466837,18 @@ is_a: MONDO:0024286 {source="NCIT:C27503"} ! benign blood vessel neoplasm

[Term]
id: MONDO:0024462
name: familial cutaneous melanoma
def: "An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
name: susceptibility to familial cutaneous melanoma
def: "A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: inferred_rare
subset: rare
synonym: "hereditary cutaneous melanoma (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "melanoma, cutaneous malignant" EXACT [OMIMPS:155600]
xref: OMIMPS:155600 {source="MONDO:equivalentTo"}
is_a: MONDO:0005012 {source="OMIMPS:155600"} ! cutaneous melanoma
is_a: MONDO:0020573 {source="OMIMPS:155600", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:155600"} ! inherited
relationship: predisposes_towards MONDO:0005012 {source="OMIMPS:155600"} ! cutaneous melanoma

[Term]
id: MONDO:0024463
Expand Down

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