X-linked dyskeratosis congenita

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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 DKC1 on chromosome Xq28.

Synonyms: DKCX, Zinsser-Cole-Engman syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dkc1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010584 - dyskeratosis congenita, X-linked

MONDO:0010584 - dyskeratosis congenita, X-linked

OMIM:

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

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

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)