Alpha Thalassemia X-Linked Mental Retardation Syndrome

Preferred Label : Alpha Thalassemia X-Linked Mental Retardation Syndrome;

NCIt synonyms : Alpha Thalassemia/Mental Retardation Syndrome X-Linked; ATRX;

NCIt definition : A rare, X-linked recessive inherited syndrome caused by mutations in the ATRX gene. It is characterized by intellectual disability, developmental delays, hypotonia, widely spaced eyes, small nose, low-set ears, tented upper lip, skeletal abnormalities, and a mild form of alpha thalassemia.;

Details

Origin ID

C118631;

UMLS CUI

C1845055;

Automatic exact mappings (from CISMeF team)
- ATRX chromatin remodeler [ORDO Gene]
- Atrx chromatin remodeler [OMIM gene]
Currated CISMeF NLP mapping
- ATR-X syndrome [MeSH Supplementary Concept]
- ATR-X syndrome [MeSH concept]
- ATR-X syndrome [PASCAL descriptor]
- Alpha thalassaemia - X-linked intellectual deficit [ICD-11 More detail]
- Alpha thalassemia X-linked intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
- Alpha-thalassemia/impaired intellectual development syndrome, X-linked [OMIM Phenotype]
- alpha thalassemia-X-linked intellectual disability syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ATR-X syndrome [PASCAL descriptor]
- ATR-X syndrome [MeSH Supplementary Concept]
- ATR-X syndrome [MeSH concept]
- ATRX syndrome [MedDRA LLT]
- Alpha thalassaemia - X-linked intellectual deficit [ICD-11 More detail]
- Alpha thalassaemia X-linked intellectual disability syndrome [MedDRA LLT]
- Alpha thalassemia X-linked intellectual disability syndrome [MedDRA LLT]
- Alpha thalassemia X-linked intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
- Alpha-thalassemia/impaired intellectual development syndrome, X-linked [OMIM Phenotype]
- alpha thalassemia-X-linked intellectual disability syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ATRX Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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