Metadata | |
---|---|
ID | DOID:0070014 |
Name | autosomal dominant dyskeratosis congenita 1 |
Definition | A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. https://www.ncbi.nlm.nih.gov/pubmed/11574891 |
Xrefs | |
Synonyms |
DKCA1 [EXACT] Dyskeratosis Congenita, Scoggins Type [EXACT] |
Parent Relationships |