| Metadata | |
|---|---|
| ID | DOID:0110029 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110029 Copy |
| Name | alpha thalassemia-intellectual disability syndrome type 1 |
| Definition | A syndrome characterized by a variable phenotype including alpha thalassemia, intellectual disability, developmental abnormalities and/or speech delay, and facial dysmorphism 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, https://pmc.ncbi.nlm.nih.gov/articles/PMC7279195/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:734349003 |
| SKOS |
exactMatch GARD:0016862 exactMatch MIM:141750 exactMatch UMLS_CUI:C0795917 exactMatch MESH:C563050 exactMatch ORDO:98791 broadMatch ICD10CM:D56.0 |
| 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 syndrome |
| Subclass Logical Relationships |
has material basis in some deletion and has material basis in some chromosome disease has feature some alpha thalassemia |