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Human Disease and Mouse Model Detail
Human Disease Stomatin-Deficient Cryohydrocytosis with Neurologic Defects; SDCHCN
OMIM ID: 608885
Human Phenotype Ontology associations
Synonyms Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly; Glut1 Deficiency Syndrome with Pseudohyperkalemia and Hemolysis
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     SLC2A1* Slc2a1   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory