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DOID:0050739 - autosomal genetic disease
Disease Ontology Definition:A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.
Synonyms:
Echinobase Genes
:
smad4,
nf1,
wrn,
lrmda,
pitx2,
ret,
pax2,
fras1,
pcdh15,
pkd2,
atrx,
dync2h1,
nek1,
xpnpep3,
LOC105444109,
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
monogenic disease (is_a)