| Metadata | |
|---|---|
| ID | DOID:0110091 |
| Name | short-rib thoracic dysplasia 10 with or without polydactyly |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/24140113 |
| Xrefs | |
| Synonyms |
SRTD10 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |