autosomal recessive dyskeratosis congenita 1

Term ID

DOID:0070015

Synonyms

• DKCB1

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. https://www.ncbi.nlm.nih.gov/pubmed/17507419

References

• OMIM:224230

Ontology

Human Disease   ( DOID:0070015 )