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multiple epiphyseal dysplasia 7
Summary
- Synonym
-
- EDM7
- Definition
- A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25.
- Super Class
- autosomal recessive disease multiple epiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0070302
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WVQ1 | Soluble calcium-activated nucleotidase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002970 | Genu varum |
| HP:0004233 | Advanced ossification of carpal bones |
| HP:0000926 | Platyspondyly |
| HP:0100864 | Short femoral neck |
| HP:0003180 | Flat acetabular roof |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003502 | Mild short stature |
| HP:0002656 | Epiphyseal dysplasia |
| HP:0008422 | Vertebral wedging |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis |
