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alpha thalassemia-intellectual disability syndrome type 1

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
Mondo Term and Equivalent IDs
MONDO:0007716:  alpha thalassemia-intellectual disability syndrome type 1
DOID:0110029: alpha thalassemia-intellectual disability syndrome type 1
MESH:C563050: 
OMIM:141750: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED
Orphanet:98791: 
SCTID:277918006: 
UMLS:C0475813: 
UMLS:C0795917: