OBO ID: DOID:0111576
Term Name: dehydrated hereditary stomatocytosis 1 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111576 )
OTHER dehydrated hereditary stomatocytosis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None