autosomal recessive dyskeratosis congenita 4

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Summary

Literature (0)

DOID:0070021 - autosomal recessive dyskeratosis congenita 4

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

Synonyms: DKCB4

Echinobase 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

MIM:

MIM:613989 - dyskeratosis congenita, autosomal dominant, 2; dkca2 dyskeratosis congenita, autosomal recessive, 4, included; dkcb4, included

MIM:613989 - dyskeratosis congenita, autosomal dominant, 2; dkca2 dyskeratosis congenita, autosomal recessive, 4, included; dkcb4, included

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

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

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