| Term Name: | short-rib thoracic dysplasia 13 with or without polydactyly |
|---|---|
| Synonyms: | SRTD13 |
| Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. |
| Ontology: | Human Disease [DOID:0110093] ( DOID:0110093 ) |