diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index c72792562..ed389ed95 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -544737,6 +544737,30 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0014005 ! immunoglobulin-mediated membranoproliferative glomerulonephritis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8517" xsd:anyURI +[Term] +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 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8785" xsd:anyURI + +[Term] +id: MONDO:0100592 +name: SLC26A2-related skeletal dysplasia +def: "Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related Achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia." [https://clinicalgenome.org/affiliation/40065/] +is_a: MONDO:0018230 {source="https://clinicalgenome.org/affiliation/40065/"} ! skeletal dysplasia +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 ! SLC26A2 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8753" xsd:anyURI + +[Term] +id: MONDO:0100593 +name: COMP-related skeletal dysplasia +def: "Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia." [https://clinicalgenome.org/affiliation/40065/] +is_a: MONDO:0018230 {source="https://clinicalgenome.org/affiliation/40065/"} ! skeletal dysplasia +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 ! COMP +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8754" xsd:anyURI + [Term] id: MONDO:0100595 name: furunculosis @@ -544745,6 +544769,62 @@ xref: NCIT:C34629 is_a: MONDO:0021201 {source="NCIT:C34629"} ! skin infection property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8306" xsd:anyURI +[Term] +id: MONDO:0100596 +name: COL1A2-related osteogenesis imperfecta +def: "Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A2 gene." [https://clinicalgenome.org/affiliation/40065/] +is_a: MONDO:0019019 {source="https://clinicalgenome.org/affiliation/40065/"} ! osteogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2198 ! COL1A2 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8757" xsd:anyURI + +[Term] +id: MONDO:0100597 +name: COL1A1-related osteogenesis imperfecta +def: "Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A1 gene." [https://clinicalgenome.org/affiliation/40065/] +is_a: MONDO:0019019 {source="https://clinicalgenome.org/affiliation/40065/"} ! osteogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2197 ! COL1A1 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8758" xsd:anyURI + +[Term] +id: MONDO:0100598 +name: COL1A1-related Ehlers-Danlos syndrome +def: "Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome." [https://clinicalgenome.org/affiliation/40065/] +is_a: MONDO:0020066 {source="https://clinicalgenome.org/affiliation/40065/"} ! Ehlers-Danlos syndrome +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2197 ! COL1A1 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8759" xsd:anyURI + +[Term] +id: MONDO:0100599 +name: COL1A2-related Ehlers-Danlos syndrome +def: "Ehlers-Danlos syndrome, arthrochalasia type or combined osteogenesis and Ehlers-Danlos syndrome caused by any variant in the COL1A2 gene." [https://clinicalgenome.org/affiliation/40065/] +is_a: MONDO:0020066 {source="https://clinicalgenome.org/affiliation/40065/"} ! Ehlers-Danlos syndrome +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2198 ! COL1A2 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8760" xsd:anyURI + +[Term] +id: MONDO:0100601 +name: COL2A1-related spondyloepiphyseal dysplasia +def: "Any thanatophoric dysplasia in which the cause of the disease is a variant in the FGFR3 gene. This includes thanatophoric dysplasia types 1 and 2." [https://clinicalgenome.org/affiliation/40065/] +is_a: MONDO:0016761 {source="https://clinicalgenome.org/affiliation/40065/"} ! spondyloepiphyseal dysplasia +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 ! COL2A1 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8763" xsd:anyURI + +[Term] +id: MONDO:0100603 +name: FAT4-related neurodevelopmental disorder +def: "Any neurodevelopmental disorder, frequently presenting with lymphatic dysplasia, craniofacial and limb anomalies, and secondary lymphopenia from altered immune cell trafficking, in which the cause of the disease is a variation in the FAT4 gene." [https://clinicalgenome.org/affiliation/40065/] +is_a: MONDO:0700092 {source="https://clinicalgenome.org/affiliation/40065/"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 ! FAT4 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8778" xsd:anyURI + +[Term] +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 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8784" xsd:anyURI + [Term] id: MONDO:0200000 name: uterine ligament adenosarcoma