| Metadata | |
|---|---|
| ID | DOID:0110094 |
| Name | short-rib thoracic dysplasia 8 with or without polydactyly |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/23910462 |
| Xrefs | |
| Synonyms |
short rib-polydactyly syndrome type VI [EXACT] SRPS6 [EXACT] SRTD8 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |