autosomal recessive dyskeratosis congenita 2

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Echinobase

Summary

Literature (0)

DOID:0070017 - autosomal recessive dyskeratosis congenita 2

Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3.

Synonyms: DKCB2

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

: nhp2

MIM:

MIM:613987 - dyskeratosis congenita, autosomal recessive, 2; dkcb2

MIM:613987 - dyskeratosis congenita, autosomal recessive, 2; dkcb2

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)