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add new terms
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@nicolevasilevsky
nicolevasilevsky committed Feb 26, 2025
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Expand Up @@ -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
Expand All @@ -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
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