FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term alpha thalassemia-X-linked intellectual disability syndrome ID (Ontology) DOID:0110030 (Human Disease)
Definition An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
Also Known As "alpha-thalassemia/mental retardation syndrome nondeletion type" ; "ATR, nondeletion type" ; "ATR-X syndrome"
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 Genes
 alpha thalassemia-X-linked intellectual disability syndrome       2
 for disease ribbon | alpha thalassemia-X-linked intellectual disability syndrome       2
 model of | alpha thalassemia-X-linked intellectual disability syndrome       2
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
thalassemia                    |
 |__alpha thalassemia__________|
                               alpha thalassemia-X-linked intellectual disability syndrome  2 rec.
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Is a X-linked dominant disease
alpha thalassemia
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Synonyms
  • "alpha-thalassemia/mental retardation syndrome nondeletion type" EXACT
    "ATR, nondeletion type" EXACT
    "ATR-X syndrome" EXACT
Secondary IDs
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GARD:5864
ICD10CM:D56.0
MIM:301040
ORDO:847