FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dehydrated hereditary stomatocytosis 2 ID (Ontology) DOID:0111577 (Human Disease)
Definition A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.
Also Known As "desiccytosis Gardos" ; "xerocytosis Gardos"
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 Genes
 dehydrated hereditary stomatocytosis 2       1
 for disease ribbon | dehydrated hereditary stomatocytosis 2       1
 model of | dehydrated hereditary stomatocytosis 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____________
hemolytic anemia                          |
 |__dehydrated hereditary stomatocytosis__|
                                          dehydrated hereditary stomatocytosis 2  1 rec.
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Is a autosomal dominant disease
dehydrated hereditary stomatocytosis
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Synonyms
  • "desiccytosis Gardos" EXACT
    "xerocytosis Gardos" EXACT
Secondary IDs
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MIM:616689