rhizomelic chondrodysplasia punctata

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Summary

Literature (0)

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pex7, gnpat, agps

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): chondrodysplasia punctata (is_a)