autosomal recessive dyskeratosis congenita 2

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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

: nhp2

OMIM:

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

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

Other Model Organisms: AGR, 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)