| Metadata | |
|---|---|
| ID | DOID:0110092 |
| Name | short-rib thoracic dysplasia 6 with or without polydactyly |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. https://www.ncbi.nlm.nih.gov/pubmed/21211617, https://www.ncbi.nlm.nih.gov/pubmed/22499340 |
| Xrefs | |
| Synonyms |
Majewski syndrome [EXACT] polydactyly with neonatal chondrodystrophy, type II [EXACT] short rib-polydactyly syndrome type IIA [EXACT] SRPS2A [EXACT] SRTD6 [EXACT] |
| Parent Relationships |