| Metadata | |
|---|---|
| ID | DOID:0110029 |
| Name | alpha thalassemia-intellectual disability 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. https://www.ncbi.nlm.nih.gov/pubmed/15921166, https://www.ncbi.nlm.nih.gov/pubmed/18076105 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha thalassemia-intellectual disability syndrome, deletion type [EXACT] alpha thalassemia-retardation syndrome [EXACT] alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 [EXACT] alpha-thalassemia/mental retardation syndrome, deletion-type [EXACT] alpha-thalassemia/mental retardation syndrome, type 1 [EXACT] ATR syndrome linked to chromosome 16 [EXACT] ATR syndrome, deletion type [EXACT] ATR-16 syndrome [EXACT] |
| Parent Relationships |
is_a chromosomal deletion syndrome is_a alpha thalassemia |
| Subclass Logical Relationships |
has material basis in some deletion and has material basis in some chromosome |