autosomal dominant disease

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Echinobase

Summary

Literature (0)

DOID:0050736 - autosomal dominant disease

Disease Ontology Definition:An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.

Synonyms:

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

: smad4, nf1, pitx2, ret, pax2, pkd2, eya1, tfap2a, flcn, nog, fgfr3, sufu, eftud2, pms1, mlh1, [+]

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

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

Parent(s): autosomal genetic disease (is_a)