1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110091 | short-rib thoracic dysplasia 10 with or without polydactyly | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
