Aicardi-Goutieres Syndrome 7

Preferred Label : Aicardi-Goutieres Syndrome 7;

NCIt synonyms : AGS7;

NCIt definition : A genetic condition usually inherited in an autosomal dominant pattern. It is cause by mutation(s) in the IFIH1 gene, encoding interferon-induced helicase C domain-containing protein 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

C168585;

UMLS CUI

C3888244;

Currated CISMeF NLP mapping
- Aicardi-goutieres syndrome 7 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-goutieres syndrome 7 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- IFIH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients