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Summary Literature (0)
DOID:0050775 - schneckenbecken dysplasia

Disease Ontology 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.

Synonyms:

Xenbase Genes : slc35d1, inppl1a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010013 - schneckenbecken dysplasia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteochondrodysplasia (is_a)