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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

ICD10CM:D56.0

OMIM:141750

ORDO:98791

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 alpha thalassemia

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