| Metadata | |
|---|---|
| ID | DOID:0110096 |
| Name | short-rib thoracic dysplasia 14 with polydactyly |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/26166481 |
| Xrefs | |
| Synonyms |
SRTD14 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |