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Dyskeratosis Congenita, Autosomal Recessive 2 (MONDO:0013519)

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.

Overview

Category

Ontology ID

Internal:14549

Synonyms

DKCB2

dyskeratosis congenita, autosomal recessive 2

dyskeratosis congenita, autosomal recessive type 2

autosomal recessive dyskeratosis congenita 2

Mapped terms

DOID:0070017

GARD:0015739

MEDGEN:462791

NCIT:C176926

OMIM:613987

UMLS:C3151441

Child terms

Unknown children.