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alpha thalassemia-intellectual disability syndrome type 1
Summary
- Synonym
-
- ATR syndrome linked to chromosome 16
- ATR syndrome, deletion type
- ATR-16 syndrome
- alpha thalassemia-intellectual disability syndrome, deletion type
- alpha thalassemia-retardation syndrome
- alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- alpha-thalassemia/mental retardation syndrome, deletion-type
- alpha-thalassemia/mental retardation syndrome, type 1
- Definition
- An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
- Super Class
- alpha thalassemia chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0110029
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 |
