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DOID:2580 - rhizomelic chondrodysplasia punctata
Disease Ontology Definition:A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.
Synonyms: Chondrodysplasia Punctata, Rhizomelic Form,
Echinobase Genes : pex7, gnpat, agps
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chondrodysplasia punctata (is_a)