Search Ontology:
Human Disease

dehydrated hereditary stomatocytosis 2

Term ID
DOID:0111577
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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