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DOID:0050177 - monogenic disease
Disease Ontology Definition:A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
Synonyms:
Echinobase Genes
:
smad4,
nf1,
wrn,
lrmda,
pitx2,
ret,
pax2,
fras1,
pcdh15,
pkd2,
ofd1,
atrx,
dync2h1,
nek1,
xpnpep3,
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
genetic disease (is_a)