Alpha Thalassemia-Intellectual Disability Syndrome Type 1
Disease ID: disease_node_15241
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D56.0, MIM:141750, ORDO:98791 |
|---|---|
| Subclassof | DOID_1099, DOID_0060388 |
| Data Source | DOID |
| Synonyms | 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 |
| Doid Label | alpha thalassemia-intellectual disability syndrome type 1 |
| Doid Description | 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. |
| Disease Node Id | disease_node_15241 |
| Doid Id | DOID_0110029 |
| Label | Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Alpha-Thalassemia(ID:disease_node_9018) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)