Aicardi-goutieres syndrome 2

Preferred Label : Aicardi-goutieres syndrome 2;

Symbol : AGS2;

CISMeF acronym : AGS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ribonuclease H2, subunit B gene (RNASEH2B, 610326.0001);

Laboratory abnormalities : No evidence of common prenatal infections; Lymphocytosis in the cerebrospinal fluid; Increased interferon-alpha signal;

Prefixed ID : #610181;

Détails

Origin ID

610181;

UMLS CUI

C3489724;

Automatic exact mappings (from CISMeF team)
- NOTCH2 wt Allele [NCIt concept]
- symbol withdrawn AGS2 [HGNC gene]
Broader ORDO disease(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome type 2 (disorder) [SNOMED CT concept]
- Aicardi-Goutieres Syndrome 2 [NCIt concept]
- Aicardi-Goutieres syndrome 2 [MeSH concept]
- Aicardi-Goutières syndrome type 2 [ICD-11 More detail]
DO Cross reference
- Aicardi-Goutieres syndrome [DO Concept]
Genes related to phenotype
- Ribonuclease h2, subunit b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Cerebral atrophy [HPO term]
- Chronic CSF lymphocytosis [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Lymphocytosis [HPO term]
- Microcephaly [HPO term]
- Spastic paraplegia [HPO term]
- Variable expressivity [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 2 [NCIt concept]
- Aicardi-Goutieres syndrome 2 [MeSH concept]
Validated automatic mappings to NTBT
- Aicardi-Goutieres syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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