diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ed389ed95..74d96e685 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -544742,7 +544742,8 @@ id: MONDO:0100591 name: TOR1AIP1-related multisystem disorder def: "TOR1AIP1-related multisystem disorder is a rare, early-onset disorder affecting multiple organ systems that is caused by variation in the TOR1AIP1 gene. Clinical features reported in affected individuals are variable but may include hypotonia, dystonia, cerebellar atrophy, contractures, cardiomyopathy, microcephaly, cataract, deafness, skeletal anomalies, progeroid appearance and other facial dysmorphism, and nephrolithiasis. TOR1AIP1-related multisystem disorder, like TOR1AIP1-related myopathy, is considered a subtype of the broader phenotypic spectrum of TOR1AIP1-related nuclear envelopathy caused by loss of function of the TOR1AIP1 gene." [https://clinicalgenome.org/affiliation/40060/, PMID:25425325, PMID:30723199, PMID:32055997] is_a: MONDO:0100604 {source="https://clinicalgenome.org/affiliation/40060/"} ! TOR1AIP1-related nuclear envelopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 ! TOR1AIP1 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 {source="https://clinicalgenome.org/affiliation/40060/"} ! TOR1AIP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8785" xsd:anyURI [Term] @@ -544822,7 +544823,7 @@ id: MONDO:0100604 name: TOR1AIP1-related nuclear envelopathy def: "A hereditary disease that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function." [https://clinicalgenome.org/affiliation/40065/, PMID:37108075] is_a: MONDO:0003847 {source="https://clinicalgenome.org/affiliation/40065/"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 ! TOR1AIP1 +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 {source="https://clinicalgenome.org/affiliation/40065/"} ! TOR1AIP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8784" xsd:anyURI [Term]