autosomal dominant dyskeratosis congenita 4

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Summary

Literature (0)

DOID:0070020 - autosomal dominant dyskeratosis congenita 4

Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.

Synonyms: DKCA4,

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

OMIM:

MIM:615190 - dyskeratosis congenita, autosomal recessive, 5; dkcb5 dyskeratosis congenita, autosomal dominant, 4, included; dkca4, included

MIM:615190 - dyskeratosis congenita, autosomal recessive, 5; dkcb5 dyskeratosis congenita, autosomal dominant, 4, included; dkca4, included

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)