Epiphyseal dysplasia, multiple, 2

Preferred Label : Epiphyseal dysplasia, multiple, 2;

Symbol : EDM2;

CISMeF acronym : EDM2;

Type : Phenotype, molecular basis known;

Description : Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by Jackson et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 (132400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in type IX collagen, alpha-2 polypeptide gene (COL9A2, 120260.0001);

Prefixed ID : #600204;

Details

Origin ID

600204;

UMLS CUI

C1838429;

Automatic exact mappings (from CISMeF team)
- Multiple epiphyseal dysplasia due to collagen 9 anomaly [ORDO Disease]
- multiple epiphyseal dysplasia 2 [DO Concept]
- symbol withdrawn EDM2 [HGNC gene]
Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, 2 [MeSH concept]
- epiphyseal dysplasia, multiple, 2 [MeSH Supplementary Concept]
DO Cross reference
- multiple epiphyseal dysplasia 2 [DO Concept]
Genes related to phenotype
- Collagen, type ix, alpha-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flat, irregular epiphyses [HPO term]
- Flattened epiphysis [HPO term]
- Flattened knee epiphyses [HPO term]
- Genu varum [HPO term]
- Irregular epiphyses [HPO term]
- Knee osteoarthritis [HPO term]
- Mild short stature [HPO term]
- Short palm [HPO term]
- Small epiphyses [HPO term]
- Waddling gait [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, 2 [MeSH concept]
- epiphyseal dysplasia, multiple, 2 [MeSH Supplementary Concept]

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