schneckenbecken dysplasia

Term ID

DOID:0050775

Synonyms

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

References

• GARD:169
• MESH:C536637
• OMIM:269250

Ontology

Human Disease   ( DOID:0050775 )