Concept Library | Search Phenotypes

Dyskeratosis Congenita, Autosomal Dominant 1 (MONDO:0007485)

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.

Overview

Category

Ontology ID

Internal:8871

Synonyms

DKCA1

dyskeratosis congenita, Scoggins type

dyskeratosis congenita, autosomal dominant 1

dyskeratosis congenita, autosomal dominant type 1

DKCA

autosomal dominant dyskeratosis congenita

autosomal dominant dyskeratosis congenita 1

dyskeratosis congenita Scoggins type

dyskeratosis congenita autosomal dominant

Mapped terms

DOID:0070014

GARD:0006299

MEDGEN:1645250

MESH:C565079

NCIT:C176921

OMIM:127550

SCTID:707273001

UMLS:C4551974

Child terms

Unknown children.