autosomal recessive dyskeratosis congenita 4

Term ID

DOID:0070021

Synonyms

• DKCB4

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. https://www.ncbi.nlm.nih.gov/pubmed/17785587

References

Ontology

Human Disease   ( DOID:0070021 )