Metadata | |
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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 |