Epiphyseal dysplasia, multiple, 4

Preferred Label : Epiphyseal dysplasia, multiple, 4;

Symbol : EDM4;

CISMeF acronym : EDM4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple epiphyseal dysplasia, autosomal recessive; Multiple epiphyseal dysplasia with bilayered patellae; Multiple epiphyseal dysplasia with clubfoot;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, 606718.0002);

Prefixed ID : #226900;

Details

Origin ID

226900;

UMLS CUI

C1847593;

Automatic exact mappings (from CISMeF team)
- Multiple epiphyseal dysplasia type 4 [ICD-11 More detail]
- multiple epiphyseal dysplasia 4 [DO Concept]
- solute carrier family 26 member 1 [HGNC gene]
Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, 4 [MeSH concept]
- Multiple epiphyseal dysplasia type 4 [ORDO Disease]
- Multiple epiphyseal dysplasia type 4 (disorder) [SNOMED CT concept]
- epiphyseal dysplasia, multiple, 4 [MeSH Supplementary Concept]
DO Cross reference
- multiple epiphyseal dysplasia 4 [DO Concept]
Genes related to phenotype
- Solute carrier family 26 (sulfate transporter), member 2 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Double-layered patella [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Hip dysplasia [HPO term]
- Hypoplasia of the femoral head [HPO term]
- Limited elbow flexion [HPO term]
- Mild shortening of metacarpals [HPO term]
- Multiple epiphyseal dysplasia [HPO term]
- Scoliosis [HPO term]
- Short metacarpal [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Multiple epiphyseal dysplasia type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, multiple, 4 [MeSH concept]
- Multiple epiphyseal dysplasia type 4 [ORDO Disease]
- Multiple epiphyseal dysplasia type 4 (disorder) [SNOMED CT concept]
- epiphyseal dysplasia, multiple, 4 [MeSH Supplementary Concept]
- multiple epiphyseal dysplasia 4 [DO Concept]

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