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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
:
smad4,
nf1,
rps24,
pitx2,
ret,
pax2,
bicc1,
pkd2,
slc16a1,
slc2a1,
col4a1,
eya1,
tfap2a,
flcn,
nog,
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal genetic disease (is_a)