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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. [ Orphanet:98791 ]

Synonyms: alpha-thalassemia/mental retardation syndrome, deletion-type alpha thalassemia-retardation syndrome ATR-16 Syndrome ATR syndrome, deletion type alpha thalassemia-intellectual disability syndrome, deletion type alpha-thalassemia/intellectual disability syndrome, deletion-type ATR syndrome linked to chromosome 16 Alpha thalassemia-mental retardation syndrome alpha-thalassemia/mental retardation syndrome, type 1 Alpha thalassemia-intellectual disability syndrome, deletion type Alpha thalassemia-intellectual disability syndrome alpha-thalassemia/intellectual disability syndrome, type 1 ATR-16 syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16 alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:98791 (OMIM:141750)
  • ICD9:282.49 (MONDO:relatedTo)
  • DOID:0110029 (MONDO:equivalentTo)
  • UMLS:C0795917 (MONDO:equivalentTo)
  • GARD:16862 (MONDO:GARD)
  • ICD10CM:D56.0 (Orphanet:98791/ntbt)
  • SCTID:277918006 (MONDO:equivalentTo)
  • MESH:C563050 (MONDO:equivalentTo)
  • DECIPHER:65 (MONDO:equivalentTo)
  • MEDGEN:162892 (MONDO:equivalentTo)
  • OMIM:141750 (Orphanet:98791/e)
  • NORD:1879 (MONDO:NORD)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6746

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://www.orpha.net/ORDO/Orphanet_98791

http://identifiers.org/mesh/C563050

https://omim.org/entry/141750

http://identifiers.org/medgen/162892

http://purl.obolibrary.org/obo/DOID_0110029

http://identifiers.org/snomedct/277918006

http://linkedlifedata.com/resource/umls/id/C0795917

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

Hemoglobin H-related mental retardation

intellectual disability with Haemoglobin H

ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related

ATR, deletion-type

ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related

Hemoglobin H-related intellectual disability

Haemoglobin H-related intellectual disability

Haemoglobin H-related mental retardation

chromosome 16P deletion syndrome

Alpha-thalassemia/intellectual disability syndrome, deletion-type

mental retardation with Hemoglobin H

intellectual disability with Hemoglobin H

mental retardation with Haemoglobin H

Alpha-thalassemia/mental retardation syndrome, deletion-type

id

MONDO:0007716