From 5ac108ec91eecaf02c051ca01e27714ad081d421 Mon Sep 17 00:00:00 2001 From: Yousif <153126037+yshwetar@users.noreply.github.com> Date: Thu, 27 Jun 2024 11:15:33 -0400 Subject: [PATCH] New term TRIP11 related skeletal dysplasia - Included new parent term 'TRIP11 skeletal related dysplasia'. Added dbxref: PMID: 20089971; 30728324, 31903676 - Placed 'achondrigenesis type 1A' and 'odontochondrodysplasia' as a subclass - odontochondrodysplasia: Added sources PMID: 30728324, 31903676 - achondrigenesis type 1A: Added sources PMID: 20089971, 31903676 --- src/ontology/mondo-edit.obo | 10 ++++++++++ 1 file changed, 10 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index a98591a729..d9a90bbdee 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -71,6 +71,14 @@ property_value: IAO:0000700 MONDO:0021125 property_value: IAO:0000700 MONDO:0021178 property_value: IAO:0000700 MONDO:0042489 +[Term] +id: MONDO:0000000 +name: TRIP11 related skeletal dysplasia +def: "TRIP11 related skeletal dysplasia describes both achondrogenesis type 1a and ondontochondrodysplasia. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1a, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes." [PMID:20089971, PMID:30728324, PMID:31903676] +is_a: MONDO:0018230 ! skeletal dysplasia +property_value: http://purl.org/dc/elements/1.1/date "2024-06-27T14:50:03Z" xsd:dateTime +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693 + [Term] id: MONDO:0000001 name: disease @@ -180604,6 +180612,7 @@ xref: Orphanet:932 {source="OMIM:200600"} xref: Orphanet:93299 {source="MONDO:equivalentTo", source="OMIM:200600"} xref: SCTID:42725006 {source="MONDO:equivalentTo"} xref: UMLS:C0265273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78546"} +is_a: MONDO:0000000 {source="PMID:20089971", source="PMID:31903676"} ! TRIP11 related skeletal dysplasia is_a: MONDO:0019648 {source="DC-OMIM:200600", source="DOID:0080054", source="OMIM:200600", source="Orphanet:93299"} ! achondrogenesis is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12305 {source="MONDO:mim2gene_medgen"} ! TRIP11 @@ -500878,6 +500887,7 @@ subset: rare xref: MEDGEN:411198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:184260 {source="MONDO:equivalentTo"} xref: UMLS:C2745953 {source="MEDGEN:411198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000000 {source="PMID:30728324", source="PMID:31903676"} ! TRIP11 related skeletal dysplasia is_a: MONDO:0016763 {source="Orphanet:166272"} ! spondylometaphyseal dysplasia relationship: has_characteristic MONDO:0021152 {source="OMIMPS:184260"} ! inherited