Epiphyseal dysplasia, multiple, 7

Preferred Label : Epiphyseal dysplasia, multiple, 7;

Symbol : EDM7;

CISMeF acronym : EDM7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium-activated nucleotidase-1 gene (CANT1, 613165.0013);

Prefixed ID : #617719;

Details

Origin ID

617719;

UMLS CUI

C4540251;

Automatic exact mappings (from CISMeF team)
- multiple epiphyseal dysplasia 7 [DO Concept]
DO Cross reference
- multiple epiphyseal dysplasia 7 [DO Concept]
Genes related to phenotype
- Calcium-activated nucleotidase 1 [OMIM gene]
HPO term(s)
- Advanced ossification of carpal bones [HPO term]
- Autosomal recessive inheritance [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flat acetabular roof [HPO term]
- Genu varum [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Mild short stature [HPO term]
- Monkey wrench femoral neck [HPO term]
- Platyspondyly [HPO term]
- Short femoral neck [HPO term]
- Vertebral wedging [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]

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