Juvenile arthritis

Preferred Label : Juvenile arthritis;

Symbol : JUVAR;

CISMeF acronym : JUVAR;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the laccase (multicopper reductase) domain-containing protein-1 gene (LACC1, 613409.0001);

Prefixed ID : #618795;

Details

Origin ID

618795;

UMLS CUI

C3495559;

Currated CISMeF NLP mapping
- Juvenile arthritis [MedDRA LLT]
- Juvenile arthritis [ICD-10 category]
- Juvenile chronic arthritis (disorder) [SNOMED CT concept]
- Juvenile rheumatoid arthritis [HPO term]
- arthritis, juvenile [MeSH concept]
- arthritis, juvenile [MeSH Descriptor]
- juvenile arthritis [MedlinePlus Topic]
Genes related to phenotype
- Laccase (multicopper reductase) domain-containing protein 1 [OMIM gene]
HPO term(s)
- Antinuclear antibody positivity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Leukocytosis [HPO term]
- Periodic fever [HPO term]
- Quotidian fever [HPO term]
- Skin rash [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- Systemic-onset juvenile idiopathic arthritis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile Idiopathic Arthritis [NCIt concept]
- Juvenile arthritis [ICD-10 category]
- Juvenile arthritis [MedDRA LLT]
- Juvenile arthritis, unspecified [ICD-10 Sub-category]
- Juvenile chronic arthritis (disorder) [SNOMED CT concept]
- Juvenile enthesitis related arthritis [ICD-11 Subcategory]
- Juvenile idiopathic arthritis [ORDO Disease]
- Juvenile idiopathic arthritis [MedDRA Preferred Term]
- Juvenile idiopathic arthritis (disorder) [SNOMED CT concept]
- Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis [ORDO Disease]
- arthritis, juvenile [MeSH concept]
- arthritis, juvenile [MeSH Descriptor]
- juvenile arthritis [MedlinePlus Topic]
- juvenile chronic polyarthritis [TUV Term]

Keyword's position in hierarchy(ies) :

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