Term Name: autosomal recessive dyskeratosis congenita 5
Synonyms: DKCB5
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.
Ontology: Human Disease [DOID:0070022]   ( DOID:0070022 )

Relationships
is a type of: autosomal recessive disease dyskeratosis congenita