Chondrocalcinosis 1

Preferred Label : Chondrocalcinosis 1;

Symbol : CCAL1;

CISMeF acronym : CCAL1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Chondrocalcinosis with early-onset osteoarthritis; CPPDD1; Calcium pyrophosphate dihydrate deposition disease 1;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of chondrocalcinosis, also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), see CCAL2 (118600).;

Inheritance : Autosomal dominant (8q);

Prefixed ID : %600668;

Details

Origin ID

600668;

UMLS CUI

C1833499;

Currated CISMeF NLP mapping
- Chondrocalcinosis 1 [MeSH concept]
- chondrocalcinosis 1 [MeSH Supplementary Concept]
DO Cross reference
- chondrocalcinosis [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chondrocalcinosis [HPO term]
- Osteoarthritis [HPO term]
ORDO concept(s)
- Familial calcium pyrophosphate deposition [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrocalcinosis 1 [MeSH concept]
- chondrocalcinosis 1 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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