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add term Jeune syndrome - GRK2-related #8695

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merged 6 commits into from
Feb 15, 2025
Merged

add term Jeune syndrome - GRK2-related #8695

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acd4f9a
add term Jeune syndrome - GRK2-related
nicolevasilevsky Feb 14, 2025
f19c820
add gene
nicolevasilevsky Feb 14, 2025
9201c7d
remove gen
nicolevasilevsky Feb 14, 2025
9bb5d8d
add gene
nicolevasilevsky Feb 14, 2025
7eb3a5e
Merge branch 'master' into issue-8545
sabrinatoro Feb 15, 2025
ab3abee
normalization
sabrinatoro Feb 15, 2025
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14 changes: 14 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -544567,6 +544567,20 @@ intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 ! TOR1AIP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8593" xsd:anyURI

[Term]
id: MONDO:0100583
name: Jeune syndrome - GRK2-related
def: "A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene." [https://orcid.org/0000-0001-8612-1062, PMID:33200460, PMID:38585547, PMID:38647386]
synonym: "asphyxiating thoracic dystrophy - GRK2-related" EXACT [PMID:33200460, PMID:38585547, PMID:38647386]
synonym: "GRK2-related Jeune syndrome" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "short rib polydactyly - GRK2 related" EXACT [PMID:33200460, PMID:38585547, PMID:38647386]
synonym: "short rib thoracic dystrophy - GRK2 related" EXACT [PMID:33200460, PMID:38585547, PMID:38647386]
is_a: MONDO:0018770 {source="https://orcid.org/0000-0001-8612-1062"} ! Jeune syndrome
intersection_of: MONDO:0018770 ! Jeune syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/289
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/289 {source="https://orcid.org/0000-0001-8612-1062"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8545" xsd:anyURI

[Term]
id: MONDO:0100584
name: SNUPN-related muscular dystrophy with or without multi-system involvement
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