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Exclude QC
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nicolevasilevsky committed Feb 26, 2025
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Showing 1 changed file with 3 additions and 2 deletions.
5 changes: 3 additions & 2 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -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]
Expand Down Expand Up @@ -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]
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