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alpha thalassemia-intellectual disability syndrome type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0007716

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. [ ]

Term info

Label

alpha thalassemia-intellectual disability syndrome type 1

Synonyms
  • ATR syndrome linked to chromosome 16
  • ATR syndrome, deletion type
  • ATR-16 syndrome
  • Alpha thalassemia-intellectual disability syndrome
  • Alpha thalassemia-intellectual disability syndrome, deletion type
  • Alpha thalassemia-mental retardation syndrome
  • Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16
  • alpha thalassemia-intellectual disability syndrome, deletion type
  • alpha thalassemia-retardation syndrome
  • alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
  • alpha-thalassemia/intellectual disability syndrome, deletion-type
  • alpha-thalassemia/intellectual disability syndrome, type 1
  • alpha-thalassemia/mental retardation syndrome, deletion-type
  • alpha-thalassemia/mental retardation syndrome, type 1
database cross reference
Subsets

ordo_disease

exactMatch

http://purl.obolibrary.org/obo/Orphanet_98791, http://identifiers.org/mesh/C563050, https://omim.org/entry/141750, http://purl.obolibrary.org/obo/DOID_0110029, http://linkedlifedata.com/resource/umls/id/C0475813, http://identifiers.org/snomedct/277918006, http://linkedlifedata.com/resource/umls/id/C0795917

has related synonym

Hemoglobin H-related mental retardation, Hemoglobin H-related intellectual disability, ATR, deletion-type, ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related, chromosome 16P deletion syndrome, Alpha-thalassemia/intellectual disability syndrome, deletion-type, mental retardation with Hemoglobin H, ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related, intellectual disability with Hemoglobin H, Alpha-thalassemia/mental retardation syndrome, deletion-type

id

MONDO:0007716