Preferred Label : Osteoarthritis susceptibility 1;
Symbol : OS1;
CISMeF acronym : OA; OS1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : OSTEOARTHROSIS; OA; Osteoarthritis of hip, female-specific, susceptibility to;
Description : Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation
of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis
(Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often
leading to significant disability and joint replacement. Osteoarthritis exhibits a
clear predilection for specific joints; it appears most commonly in the hip and knee
joints and lumbar and cervical spine, as well as in the distal interphalangeal and
the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the
hand; however, patients with osteoarthritis may have 1, a few, or all of these sites
affected (Stefansson et al., 2003). According to a conservative estimate, greater
than 70% of the population of the United States at age 65 years is affected by the
disease, reflecting its age dependence.;
Inheritance : Multifactorial;
Molecular basis : Susceptibility associated with variants in the frizzled-related protein gene (FRZB,
605083.0001);
Prefixed ID : #165720;
Origin ID : 165720;
UMLS CUI : C3887876;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
- Validated automatic mappings to NTBT
