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autosomal dominant dyskeratosis congenita 1
Summary
- Synonym
-
- DKCA1
- Dyskeratosis Congenita, Scoggins Type
- Definition
- A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.
- Super Class
- autosomal dominant disease dyskeratosis congenita
External Links
- Disease Ontology
- DOID:0070014
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96PE3 | Inositol polyphosphate-4-phosphatase type I A |
