Isolated Hyperchlorhidrosis
Disease ID: disease_node_20556
Connections displayed (default: 10).
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| Dbxref | MIM:143860, ORDO:542657, SNOMEDCT_US_2023_03_01:709413001, UMLS_CUI:C1840437 |
|---|---|
| Subclassof | DOID_0050737, DOID_37 |
| Data Source | DOID |
| Synonyms | HYCHL, carbonic anhydrase XII deficiency |
| Doid Label | isolated hyperchlorhidrosis |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20556 |
| Doid Id | DOID_0111371 |
| Label | Isolated Hyperchlorhidrosis |
- Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases(ID:disease_node_6968) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases, Genetic(ID:disease_node_6970) (Disease)