Epiphyseal dysplasia, multiple, 3

Preferred Label : Epiphyseal dysplasia, multiple, 3;

Symbol : EDM3;

CISMeF acronym : EDM3;

Type : Phenotype, molecular basis known;

Included titles and symbols : Epiphyseal dysplasia, multiple, 3, with myopathy;

Description : Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen IX, alpha-3 polypeptide gene (COL9A3, 120270.0001);

Laboratory abnormalities : Mildly elevated creatine phosphokinase (CPK) (120270.0002);

Prefixed ID : #600969;

Details

Origin ID

600969;

UMLS CUI

C1832998;

Automatic exact mappings (from CISMeF team)
- Multiple epiphyseal dysplasia due to collagen 9 anomaly [ORDO Disease]
- collagen type IX alpha 3 chain [ORDO Gene]
- collagen type IX alpha 3 chain [HGNC gene]
- multiple epiphyseal dysplasia 3 [DO Concept]
Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, 3 [MeSH concept]
- epiphyseal dysplasia, multiple, 3 [MeSH Supplementary Concept]
DO Cross reference
- multiple epiphyseal dysplasia 3 [DO Concept]
Genes related to phenotype
- Collagen, type ix, alpha-3 [OMIM gene]
HPO term(s)
- Abnormal hip joint morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Epiphyseal dysplasia [HPO term]
- Irregular epiphyses [HPO term]
- Knee pain [HPO term]
- Limited elbow extension [HPO term]
- Limited knee extension [HPO term]
- Mild short stature [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Osteoarthritis [HPO term]
- Proximal muscle weakness [HPO term]
- Short metacarpal [HPO term]
- Small epiphyses [HPO term]
- Small, irregular epiphyses [HPO term]
ORDO concept(s)
- Multiple epiphyseal dysplasia due to collagen 9 anomaly [ORDO Disease]
Related ORDO disease(s)
- Multiple epiphyseal dysplasia due to collagen 9 anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, multiple, 3 [MeSH concept]
- epiphyseal dysplasia, multiple, 3 [MeSH Supplementary Concept]

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