dehydrated hereditary stomatocytosis 1

Term ID

DOID:0111576

Synonyms

• dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
• pseudohyperkalemia edinburgh
• pseudohyperkalemia familial 1, due to red cell leak
• PSHK1

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

References

• OMIM:194380

Ontology

Human Disease   ( DOID:0111576 )