Term Name: | schneckenbecken dysplasia |
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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. |
Ontology: | Human Disease [DOID:0050775] ( DOID:0050775 ) |