Dehydrated Hereditary Stomatocytosis 1
Disease ID: disease_node_15284
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| Dbxref | MIM:194380 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111575 |
| Data Source | DOID |
| Synonyms | PSHK1, dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema, pseudohyperkalemia edinburgh, pseudohyperkalemia familial 1, due to red cell leak |
| Doid Label | dehydrated hereditary stomatocytosis 1 |
| Doid Description | A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15284 |
| Doid Id | DOID_0111576 |
| Label | Dehydrated Hereditary Stomatocytosis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)