Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Disease ID: disease_node_15723
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q87.5, MIM:266920 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050592 |
| Data Source | DOID |
| Synonyms | SRTD9, renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia |
| Doid Label | short-rib thoracic dysplasia 9 with or without polydactyly |
| Doid Description | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15723 |
| Doid Id | DOID_0110097 |
| Label | Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Asphyxiating Thoracic Dystrophy(ID:disease_node_15722) (Disease)