| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |