| Term Name: | short-rib thoracic dysplasia 18 with polydactyly |
|---|---|
| Synonyms: | |
| Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. |
| Ontology: | Human Disease [DOID:0080293] ( DOID:0080293 ) |