Aicardi-Goutieres Syndrome 1

Preferred Label : Aicardi-Goutieres Syndrome 1;

NCIt synonyms : AGS1; Cree Encephalitis; Pseudotoxoplasmosis Syndrome; Encephalopathy, Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis;

NCIt definition : A heritable condition, caused by mutation(s) in the TREX1 gene, encoding three-prime repair exonuclease 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.;

Details

Origin ID

C165501;

UMLS CUI

C0796126;

Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome type 1 (disorder) [SNOMED CT concept]
- Aicardi-goutieres syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-Goutieres syndrome [MeSH concept]
- Aicardi-goutieres syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Aicardi Goutieres syndrome [Disease (Nov.)]
- Aicardi Goutieres syndrome (disorder) [SNOMED CT concept]
- Aicardi-Goutieres syndrome [MeSH Supplementary Concept]
- Aicardi-Goutieres syndrome [DO Concept]
- Aicardi-Goutieres syndrome [MeSH concept]
- Aicardi-Goutières syndrome [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TREX1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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