Chondrocalcinosis 2

Preferred Label : Chondrocalcinosis 2;

Symbol : CCAL2;

CISMeF acronym : CCAL2; CPPDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CPPDD; Chondrocalcinosis, familial articular; Calcium gout; Calcium pyrophosphate arthropathy; Calcium pyrophosphate dihydrate deposition disease; CPPDD2; Calcium pyrophosphate dihydrate deposition disease 2;

Description : Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ANKH inorganic pyrophosphate transport regulator gene (ANKH, 605145.0006);

Prefixed ID : #118600;

Détails

Origin ID

118600;

UMLS CUI

C0856830;

Automatic exact mappings (from CISMeF team)
- ANKH inorganic pyrophosphate transport regulator [ORDO Gene]
- Calcium pyrophosphate arthropathy [MedDRA LLT]
- Calcium pyrophosphate dihydrate deposition disease [MedDRA LLT]
- Congenital calcium pyrophosphate dihydrate crystal deposition disease (disorder) [SNOMED CT concept]
- Familial articular chondrocalcinosis type 2 [ORDO Disease]
- Familial calcium pyrophosphate deposition [ORDO Disease]
- symbol withdrawn CCAL2 [HGNC gene]
Currated CISMeF NLP mapping
- chondrocalcinosis 2 [MeSH concept]
- chondrocalcinosis 2 [MeSH Supplementary Concept]
DO Cross reference
- chondrocalcinosis [DO Concept]
Genes related to phenotype
- Ankh inorganic pyrophosphate transport regulator [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Arthropathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Osteoarthritis [HPO term]
- Polyarticular chondrocalcinosis [HPO term]
ORDO concept(s)
- Familial calcium pyrophosphate deposition [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Calcium pyrophosphate arthropathy [MedDRA LLT]
- Calcium pyrophosphate dihydrate deposition disease [MedDRA LLT]
- chondrocalcinosis 2 [MeSH Supplementary Concept]
- chondrocalcinosis 2 [MeSH concept]

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

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