Metadata | |
---|---|
ID | DOID:0070022 |
Name | autosomal recessive dyskeratosis congenita 5 |
Definition | A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/19461895 |
Xrefs | |
Synonyms |
DKCB5 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |