| Metadata | |
|---|---|
| ID | DOID:0050775 |
| Name | schneckenbecken dysplasia |
| Definition | An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |