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MIRAGE
isolated hyperchlorhidrosis
Summary
- Synonym
-
- HYCHL
- carbonic anhydrase XII deficiency
- Definition
- A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2.
- Super Class
- autosomal recessive disease skin disease
External Links
- Disease Ontology
- DOID:0111371
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43570 | Carbonic anhydrase 12 |
