| Metadata | |
|---|---|
| ID | DOID:0110097 |
| Name | short-rib thoracic dysplasia 9 with or without polydactyly |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/22503633 |
| Xrefs | |
| Synonyms |
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia [EXACT] SRTD9 [EXACT] |
| Parent Relationships |