Visualize
Metadata
DOID 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

GARD:169

MESH:C536637

OMIM:269250

Relationships

is_a osteochondrodysplasia

Add an item to the term tracker