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Summary Literature (68)
DOID:0050737 - autosomal recessive disease


Disease Ontology Definition:An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.

Synonyms:

Referenced OMIM:

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hba1, fgg, fga, polg, fras1, hoxc13, psmb8, slc12a3l, kng1, mfn2, foxe3, hoxa1, ghr, kremen1, f2, [+]

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal genetic disease (is_a)


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