Metadata | |
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ID | DOID:0070020 |
Name | autosomal dominant dyskeratosis congenita 4 |
Definition | A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/23329068 |
Synonyms |
DKCA4 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |