autosomal recessive dyskeratosis congenita 5

Term ID

DOID:0070022

Synonyms

• DKCB5

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/19461895

References

• MIM:615190

Ontology

Human Disease   ( DOID:0070022 )