Metadata | |
---|---|
ID | DOID:0070016 |
Name | autosomal dominant dyskeratosis congenita 2 |
Definition | A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. https://www.ncbi.nlm.nih.gov/pubmed/16247010 |
Xrefs | |
Synonyms |
DKCA2 [EXACT] |
Parent Relationships |