Aicardi-goutieres syndrome 7

Preferred Label : Aicardi-goutieres syndrome 7;

Symbol : AGS7;

CISMeF acronym : AGS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon-induced helicase C domain-containing protein 1 gene (IFIH1, 606951.0001);

Prefixed ID : #615846;

Details

Origin ID

615846;

UMLS CUI

C3888244;

Automatic exact mappings (from CISMeF team)
- IFIH1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Aicardi-Goutieres Syndrome 7 [NCIt concept]
DO Cross reference
- Aicardi-Goutieres syndrome [DO Concept]
Genes related to phenotype
- Interferon-induced helicase C domain-containing protein 1 [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Absent speech [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Cerebral atrophy [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Incomplete penetrance [HPO term]
- Increased circulating antibody level [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Irritability [HPO term]
- Microcephaly [HPO term]
- Nephrotic syndrome [HPO term]
- Seizure [HPO term]
- Spastic tetraparesis [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
- Vasculitis [HPO term]
ORDO concept(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-Goutieres Syndrome 7 [NCIt concept]

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