Osteoarthritis susceptibility 2

Preferred Label : Osteoarthritis susceptibility 2;

Symbol : OS2;

CISMeF acronym : DIPOA; HOA; OADIP; OS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteoarthritis of distal interphalangeal joints; Hand osteoarthritis; OADIP; DIPOA; HOA;

Included titles and symbols : Heberden nodes;

Description : In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints (Stefansson et al., 2003). Patients with osteoarthritis may have 1, a few, or all of these sites affected. Heberden nodes are bony excrescences of the phalanges of the distal interphalangeal joints of the fingers (Stecher, 1955). They can be considered a variety of osteoarthrosis, or degenerative arthritis.;

Inheritance : Sex-influenced autosomal dominant;

Prefixed ID : #140600;

Details

Origin ID

140600;

UMLS CUI

C3887526;

Automatic exact mappings (from CISMeF team)
- 4-hexyloxyaniline [MeSH Supplementary Concept]
- 4-hydroxy-2-oxovalerate aldolase activity [GO term]
- Heberden node (disorder) [SNOMED CT concept]
- Heberden nodes [ICD-11 More detail]
- Heberden's Node [NCIt concept]
- Heberden's node [HPO term]
- Heberden's nodes [MedDRA LLT]
- heberden's node [SNOMED Notion]
- matrilin 3 [ORDO Gene]
Currated CISMeF NLP mapping
- osteoarthritis of hand [Disease (Nov.)]
False automatic mappings
- Hand osteoarthritis [MedDRA LLT]
- Osteoarthritis of distal interphalangeal joint (disorder) [SNOMED CT concept]
- Osteoarthritis of the distal interphalangeal joint [HPO term]
Genes related to phenotype
- Matrilin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Heberden's node [HPO term]
- Osteoarthritis [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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