Pharos: alpha thalassemia-intellectual disability syndrome type 1 (1 associated targets)

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: