autosomal recessive dyskeratosis congenita 2

Term ID

DOID:0070017

Synonyms

• DKCB2

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. https://www.ncbi.nlm.nih.gov/pubmed/18523010

References

• OMIM:613987

Ontology

Human Disease   ( DOID:0070017 )