Ataxia-Telangiectasia-Like Disorder 1

Preferred Label : Ataxia-Telangiectasia-Like Disorder 1;

NCIt synonyms : Ataxia-Telangiectasia-Like Disorder; ATLD1; ATLD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.;

NCI Metathesaurus CUI : CL520360;

Details

Origin ID

C132224;

UMLS CUI

C4012790;

Automatic exact mappings (from CISMeF team)
- Ataxia-telangiectasia-like disorder [OMIM phenotypic series]
- MRE11 homolog, double strand break repair nuclease [ORDO Gene]
Currated CISMeF NLP mapping
- Ataxia-telangiectasia-like disorder [ORDO Disease]
- Ataxia-telangiectasia-like disorder [ICD-11 More detail]
- Ataxia-telangiectasia-like disorder (disorder) [SNOMED CT concept]
- Ataxia-telangiectasia-like disorder 1 [OMIM Phenotype]
- ataxia telangiectasia like disorder [MeSH Supplementary Concept]
- ataxia telangiectasia like disorder [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-telangiectasia-like disorder 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MRE11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients