Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Disease ID: disease_node_15729
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q77.2, ICD10CM:Q87.5, MIM:615630 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050592 |
| Data Source | DOID |
| Synonyms | SRTD10 |
| Doid Label | short-rib thoracic dysplasia 10 with or without polydactyly |
| Doid Description | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15729 |
| Doid Id | DOID_0110091 |
| Label | Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
- Outgoing r'ship
SUBCLASS_OFto/from Asphyxiating Thoracic Dystrophy(ID:disease_node_15722) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)