From 62f91c4301593f891822aeac14e3cbcdceb16899 Mon Sep 17 00:00:00 2001 From: Yousif <153126037+yshwetar@users.noreply.github.com> Date: Thu, 11 Jul 2024 23:03:35 -0400 Subject: [PATCH] New term Dyneinopathy (#7894) * New term Dyneinopathy Closes #7652 Includes the following - Definition - 3 PMIDs for definition - 2 Parent classes - 2 Children classes * Updated term dyneinopathy - Removed first letter capitalization - Added ORCID, Clingen, OMIM, and PMID as respective annotations Did not yet address the addition of spinal muscular atrophy per the request of collaborator. * Update MONDO ID & added annotation for dyneinopathy Previous MONDO ID was 1040000, which has been used in other commits. Updated this ID to 1040031. Also added the SubClassOf annotation: 'has material basis in germline mutation in' some DYNC1H1, along with sources for this. * Update dyneinopathy definition, xref, and URL Minor updates to the definition of dyneinopathy. Removed ncbi search URL and placed PMID of genereviews. Also created a term tracker item. --- src/ontology/mondo-edit.obo | 13 +++++++++++++ 1 file changed, 13 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index f5b09c3cf7..12d407f605 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -310788,6 +310788,7 @@ xref: Orphanet:284232 {source="MONDO:equivalentTo", source="OMIM:614228", source xref: UMLS:C3280220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481850"} is_a: MONDO:0015626 {source="DOID:0110175/inferred", source="MONDO:Redundant", source="OMIM:614228", source="Orphanet:284232/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110175", source="Orphanet:284232"} ! Charcot-Marie-Tooth disease type 2 +is_a: MONDO:1040031 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/40063/"} ! dyneinopathy intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 ! DYNC1H1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1 @@ -314674,6 +314675,7 @@ xref: OMIM:614563 {source="DOID:0070043", source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="OMIM:614563"} xref: UMLS:C3281202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482832"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614563"} ! intellectual disability, autosomal dominant +is_a: MONDO:1040031 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! dyneinopathy intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 ! DYNC1H1 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -574722,6 +574724,17 @@ is_a: MONDO:0022800 {source="https://clinicalgenome.org/affiliation/40065/", sou property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7379" xsd:anyURI +[Term] +id: MONDO:1040031 +name: dyneinopathy +def: "A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes." [https://clinicalgenome.org/affiliation/40006/, PMID:32656949, PMID:32788638, PMID:33991169, PMID:38513047] +is_a: MONDO:0000508 {source="PMID:32656949", source="PMID:32788638", source="PMID:33991169", source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! syndromic intellectual disability +is_a: MONDO:0019516 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! exudative vitreoretinopathy +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="PMID:32656949", source="PMID:32788638", source="PMID:33991169", source="https://orcid.org/0000-0002-0587-4693"} ! DYNC1H1 +property_value: http://purl.org/dc/elements/1.1/date "2024-07-01T21:00:19Z" xsd:dateTime +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/7652" xsd:anyURI + [Term] id: MONDO:8000000 name: infectious discitis