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DOID:0070014 - autosomal dominant dyskeratosis congenita 1
Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.
Synonyms: DKCA1, Dyskeratosis Congenita, Scoggins Type,
Xenbase Genes : tinf2, tert, terc
MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee