OBO ID: DOID:0111577
Term Name: dehydrated hereditary stomatocytosis 2 Search Ontology:
Synonyms:
  • desiccytosis Gardos
  • xerocytosis Gardos
Definition: A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. https://www.ncbi.nlm.nih.gov/pubmed/26148990
References:
Ontology: Human Disease   ( DOID:0111577 )
Relationships
is a type of:
OTHER dehydrated hereditary stomatocytosis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNN4 Dehydrated hereditary stomatocytosis 2 616689
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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