Familial mediterranean fever, autosomal dominant

Preferred Label : Familial mediterranean fever, autosomal dominant;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fmf, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the pyrin gene (MEFV, 608107.0018);

Laboratory abnormalities : Increased serum C-reactive protein (CRP, 123260);

Prefixed ID : #134610;

Détails

Origin ID

134610;

UMLS CUI

C1851347;

Broader ORDO disease(s)
- Familial Mediterranean fever [ORDO Disease]
Currated CISMeF NLP mapping
- familial mediterranean fever, autosomal dominant [MeSH concept]
DO Cross reference
- familial Mediterranean fever [DO Concept]
Genes related to phenotype
- Mefv innate immunity regulator, pyrin [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chest pain [HPO term]
- Erysipelas [HPO term]
- Juvenile onset [HPO term]
- Peritonitis [HPO term]
- Pleuritis [HPO term]
- Polyarticular arthritis [HPO term]
- Proteinuria [HPO term]
- Recurrent fever [HPO term]
- Renal amyloidosis [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Familial Mediterranean fever [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- familial mediterranean fever, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- Familial Mediterranean fever [ORDO Disease]

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

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