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Summary Literature (269)
DOID:630 - genetic disease


Disease Ontology Definition:A disease that has_material_basis_in genetic variations in the human genome.

Synonyms:

Xenbase Genes : tbx1, hba1, gdf9, c2, gdf2, suclg1, wnt10a, slc24a4, fgg, pygl, tgfbr1, tnni2, dact1, fga, polg, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0003847 - Mendelian disease


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): disease (is_a)