| Metadata | |
|---|---|
| ID | DOID:0070026 |
| Name | Revesz syndrome |
| Definition | A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/18252230 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DKCA5 [EXACT] Dyskeratosis Congenita, Autosomal Dominant 5 [EXACT] exudative retinopathy with bone marrow failure [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |