Epiphyseal dysplasia, multiple, 1

Preferred Label : Epiphyseal dysplasia, multiple, 1;

Symbol : EDM1;

CISMeF acronym : EDM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple epiphyseal dysplasia, comp-related;

Included titles and symbols : Epiphyseal dysplasia, fairbank type; Epiphyseal dysplasia, ribbing type;

Description : Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis (Briggs et al., 1995). - Genetic Heterogeneity of Multiple Epiphyseal Dysplasia Multiple epiphyseal dysplasia is a genetically heterogeneous disorder. See also EDM2 (600204), caused by mutation in the COL9A2 gene (120260); EDM3 (600969), caused by mutation in the COL9A3 gene (120270); EDM4 (226900), caused by mutation in the DTDST gene (606718); EDM5 (607078), caused by mutation in the MATN3 gene (602109); and EDM6 (614135), caused by mutation in the COL9A1 gene (120210).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in cartilage oligomeric matrix protein (COMP, 600310.0005);

Prefixed ID : #132400;

Details

Origin ID

132400;

UMLS CUI

C1838280;

Automatic exact mappings (from CISMeF team)
- COMP wt Allele [NCIt concept]
- epiphyseal dysplasia, ribbing type [MeSH concept]
- fairbank disease [MeSH Supplementary Concept]
- symbol withdrawn EDM1 [HGNC gene]
Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, 1 [MeSH concept]
- Multiple epiphyseal dysplasia type 1 [ICD-11 More detail]
- Multiple epiphyseal dysplasia type 1 [ORDO Disease]
- Multiple epiphyseal dysplasia type 1 (disorder) [SNOMED CT concept]
- epiphyseal dysplasia, multiple, 1 [MeSH Supplementary Concept]
- multiple epiphyseal dysplasia 1 [DO Concept]
DO Cross reference
- multiple epiphyseal dysplasia 1 [DO Concept]
Genes related to phenotype
- Cartilage oligomeric matrix protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Broad femoral neck [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Epiphyseal dysplasia [HPO term]
- Generalized joint laxity [HPO term]
- Genu valgum [HPO term]
- Heterogeneous [HPO term]
- Hip osteoarthritis [HPO term]
- Irregular epiphyses [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint stiffness [HPO term]
- Limited hip movement [HPO term]
- Mild short stature [HPO term]
- Mild short-limb dwarfism [HPO term]
- Mild to moderate short stature [HPO term]
- Ovoid vertebral bodies [HPO term]
- Severe short stature [HPO term]
- Short femoral neck [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short, wide femoral neck [HPO term]
- Small epiphyses [HPO term]
- Small, irregular epiphyses [HPO term]
- Waddling gait [HPO term]
- mild irregularity of vertebral endplates [HPO term]
ORDO concept(s)
- Multiple epiphyseal dysplasia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, multiple, 1 [MeSH concept]
- Multiple epiphyseal dysplasia type 1 [ORDO Disease]
- Multiple epiphyseal dysplasia type 1 (disorder) [SNOMED CT concept]
- epiphyseal dysplasia, multiple, 1 [MeSH Supplementary Concept]
- multiple epiphyseal dysplasia 1 [DO Concept]

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