Developmental dysplasia of the hip 2

Preferred Label : Developmental dysplasia of the hip 2;

Symbol : DDH2;

CISMeF acronym : DDH2;

Type : Phenotype or locus, molecular basis unknown;

Description : Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by Feldman et al., 2013). For discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (142700).;

Inheritance : Autosomal dominant;

Prefixed ID : %615612;

Details

Origin ID

615612;

UMLS CUI

C3715079;

HPO term(s)
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coxa valga [HPO term]
- Hip dysplasia [HPO term]
- Hip osteoarthritis [HPO term]
- Hip pain [HPO term]
See also inter- (CISMeF)
- AKR1C2 wt Allele [NCIt concept]
- AKR1C3 wt Allele [NCIt concept]
- symbol withdrawn DDH2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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