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Echinobase
Summary Literature (0)
DOID:0070014 - autosomal dominant dyskeratosis congenita 1


Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2.

Synonyms: DKCA1, Dyskeratosis Congenita, Scoggins Type,

Echinobase Genes : tert


OMIM:
MIM:127550 - dyskeratosis congenita, autosomal dominant, 1; dkca1

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

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