autosomal dominant dyskeratosis congenita 2

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Summary

Literature (0)

DOID:0070016 - autosomal dominant dyskeratosis congenita 2

Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.

Synonyms: DKCA2

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

: tert

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), dyskeratosis congenita (is_a)