Epiphyseal dysplasia, multiple, 5

Preferred Label : Epiphyseal dysplasia, multiple, 5;

Symbol : EDM5;

CISMeF acronym : BHMED; EDM5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple epiphyseal dysplasia, matn3-related; Microepiphyseal dysplasia, bilateral hereditary; BHMED;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the matrilin 3 gene (MATN3, 602109.0001);

Prefixed ID : #607078;

Détails

Origin ID

607078;

UMLS CUI

C1846843;

Automatic exact mappings (from CISMeF team)
- Multiple epiphyseal dysplasia type 5 [ICD-11 More detail]
- matrilin 3 [ORDO Gene]
- matrilin 3 [HGNC gene]
- multiple epiphyseal dysplasia 5 [DO Concept]
Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, 5 [MeSH concept]
- Multiple epiphyseal dysplasia type 5 [ORDO Disease]
- Multiple epiphyseal dysplasia type 5 (disorder) [SNOMED CT concept]
- epiphyseal dysplasia, multiple, 5 [MeSH Supplementary Concept]
DO Cross reference
- multiple epiphyseal dysplasia 5 [DO Concept]
Genes related to phenotype
- Matrilin 3 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Arthralgia of the hip [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad femoral neck [HPO term]
- Coxa vara [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Delayed tarsal ossification [HPO term]
- Epiphyseal dysplasia [HPO term]
- Genu valgum [HPO term]
- Hip pain [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Irregular epiphyses [HPO term]
- Metaphyseal irregularity [HPO term]
- Mild metaphyseal irregularities [HPO term]
- Multiple epiphyseal dysplasia [HPO term]
- Premature osteoarthritis [HPO term]
- Short femoral neck [HPO term]
- Short metacarpal [HPO term]
- Short stature [HPO term]
- Short, wide femoral neck [HPO term]
- Small epiphyses [HPO term]
- Small, irregular epiphyses [HPO term]
ORDO concept(s)
- Multiple epiphyseal dysplasia type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, multiple, 5 [MeSH concept]
- Multiple epiphyseal dysplasia type 5 [ORDO Disease]
- Multiple epiphyseal dysplasia type 5 (disorder) [SNOMED CT concept]
- epiphyseal dysplasia, multiple, 5 [MeSH Supplementary Concept]
- multiple epiphyseal dysplasia 5 [DO Concept]

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