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Summary Literature (0)
DOID:0070025 - X-linked dyskeratosis congenita


Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.

Synonyms: DKCX, Zinsser-Cole-Engman syndrome

Xenbase Genes : dkc1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010584 - pedal digit 5 phalanx pre-cartilage condensation

MIM:
MIM:305000 - DYSKERATOSIS CONGENITA, X-LINKED; DKCX

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

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