Epiphyseal dysplasia, multiple, with myopia and conductive deafness

Preferred Label : Epiphyseal dysplasia, multiple, with myopia and conductive deafness;

Symbol : EDMMD;

CISMeF acronym : EDMMD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0029);

Prefixed ID : #132450;

Détails

Origin ID

132450;

UMLS CUI

C1851536;

Currated CISMeF NLP mapping
- Multiple epiphyseal dysplasia Beighton type (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia, Beighton type [ICD-11 More detail]
- Multiple epiphyseal dysplasia, Beighton type [ORDO Disease]
- epiphyseal dysplasia, multiple, with myopia and conductive deafness [MeSH concept]
- epiphyseal dysplasia, multiple, with myopia and conductive deafness [MeSH Supplementary Concept]
- multiple epiphyseal dysplasia with myopia and deafness [DO Concept]
DO Cross reference
- multiple epiphyseal dysplasia with myopia and deafness [DO Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Asteroid hyalosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cataract [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Coxa valga [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flat face [HPO term]
- Genu valgum [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Progressive myopia [HPO term]
- Retinal thinning [HPO term]
- Round face [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Multiple epiphyseal dysplasia, Beighton type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple epiphyseal dysplasia, Beighton type [ORDO Disease]
- epiphyseal dysplasia, multiple, with myopia and conductive deafness [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, with myopia and conductive deafness [MeSH concept]
- multiple epiphyseal dysplasia with myopia and deafness [DO Concept]

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