autosomal recessive dyskeratosis congenita 8

Term ID

DOID:0061284

Synonyms

• DKCB8

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the APOLLO gene on chromosome 1p13.2. https://pubmed.ncbi.nlm.nih.gov/35007328/

References

• MIM:620133

Ontology

Human Disease   ( DOID:0061284 )