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normalization Nov 14 #8395

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Nov 14, 2024
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normalization Nov 14 #8395

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20 changes: 10 additions & 10 deletions src/ontology/mondo-edit.obo
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Original file line number Diff line number Diff line change
Expand Up @@ -586232,16 +586232,6 @@ property_value: http://purl.org/dc/elements/1.1/date "2024-07-23T20:59:58Z" xsd:
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7831" xsd:anyURI

[Term]
id: MONDO:1040023
name: NDUFB11-related disorders
def: "A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities." [https://orcid.org/0000-0002-0587-4693, https://orcid.org/0000-001-9310-0163, PMID:25772934, PMID:25921236, PMID:26741492, PMID:27102574]
is_a: MONDO:0002254 {source="PMID:25772934", source="PMID:27102574", source="https://orcid.org/0000-0002-0587-4693"} ! syndromic disease
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8253" xsd:string

[Term]
id: MONDO:1040022
name: linkeropathy
Expand All @@ -586252,6 +586242,16 @@ is_a: MONDO:0005516 {source="PMID:31438591", source="PMID:37657630"} ! osteochon
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8179" xsd:string

[Term]
id: MONDO:1040023
name: NDUFB11-related disorders
def: "A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities." [https://orcid.org/0000-0002-0587-4693, https://orcid.org/0000-001-9310-0163, PMID:25772934, PMID:25921236, PMID:26741492, PMID:27102574]
is_a: MONDO:0002254 {source="PMID:25772934", source="PMID:27102574", source="https://orcid.org/0000-0002-0587-4693"} ! syndromic disease
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8253" xsd:string

[Term]
id: MONDO:1040024
name: myelin oligodendrocyte glycoprotein antibody-associated disease
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