autosomal recessive dyskeratosis congenita 6

Term ID

DOID:0070024

Synonyms

• DKCB6

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. https://www.ncbi.nlm.nih.gov/pubmed/25893599

References

• OMIM:616353

Ontology

Human Disease   ( DOID:0070024 )