| Term Name: | short-rib thoracic dysplasia 10 with or without polydactyly |
|---|---|
| Synonyms: | SRTD10 |
| Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. |
| Ontology: | Human Disease [DOID:0110091] ( DOID:0110091 ) |