autosomal recessive dyskeratosis congenita 3

Term ID

DOID:0070019

Synonyms

• DKCB3

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. https://www.ncbi.nlm.nih.gov/pubmed/21205863

References

• OMIM:613988

Ontology

Human Disease   ( DOID:0070019 )