| Metadata | |
|---|---|
| ID | DOID:0111576 |
| Name | dehydrated hereditary stomatocytosis 1 |
| Definition | A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. https://www.ncbi.nlm.nih.gov/pubmed/22529292 |
| Xrefs | |
| Synonyms |
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema [EXACT] pseudohyperkalemia edinburgh [EXACT] pseudohyperkalemia familial 1, due to red cell leak [EXACT] PSHK1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |