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occipital horn syndrome
Summary
- Synonym
-
- EDS IX
- Ehlers-Danlos syndrome type 9
- Ehlers-Danlos syndrome type IX
- X-linked cutis laxa
- Definition
- A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.
- Super Class
- X-linked recessive disease metal metabolism disorder
External Links
- Disease Ontology
- DOID:0111272
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 |
