| Metadata | |
|---|---|
| ID | DOID:0110090 |
| Name | short-rib thoracic dysplasia 7 with or without polydactyly |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. https://www.ncbi.nlm.nih.gov/pubmed/21473986, https://www.ncbi.nlm.nih.gov/pubmed/17935248 |
| Xrefs | |
| Synonyms |
short rib-polydactyly syndrome type V [EXACT] SRPS5 [EXACT] SRTD7 [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance has material basis in some autosomal recessive inheritance |