FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term alpha thalassemia-intellectual disability syndrome type 1 ID (Ontology) DOID:0110029 (Human Disease)
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.
Also Known As "alpha thalassemia-intellectual disability syndrome, deletion type" ; "alpha thalassemia-retardation syndrome" ; "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" (for all, see Synonyms field below)
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chromosomal disease
 |__chromosomal deletion syndrome__
thalassemia                        |
 |__alpha thalassemia______________|
                                   alpha thalassemia-intellectual disability syndrome type 1
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Is a chromosomal deletion syndrome
alpha thalassemia
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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
Secondary IDs
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ICD10CM:D56.0
MIM:141750
ORDO:98791