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Summary Literature (0)
DOID:14687 - diastrophic dysplasia

Disease Ontology Definition:An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.

Synonyms:

Xenbase Genes : slc26a2, slc26a2.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009107 - diastrophic dysplasia

MIM:
MIM:222600 - DIASTROPHIC DYSPLASIA; DTD

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

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