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Disease Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly

Name Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Synonyms CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY | GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | SDCHCN | Stomatin-Deficient Cryohydrocytosis with Neurologic Defects
Categories Digestive system disease | Eye disease | Mental disorder | Metabolic disease | Nervous system disease | Pathology (anatomical condition) | Signs and symptoms
MeSH® ID C563840
OMIM® ID 608885

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1. DiseasesDigestive System Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Liver Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Hepatomegaly Has associated chemicals Has associated genes Has associated phenotype references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Seizures Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
4. DiseasesEye Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Lens Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cataract Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Water-Electrolyte Imbalance Has associated chemicals Has associated genes Has associated phenotype references Hyperkalemia Has associated chemicals Has associated genes Has associated phenotype references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
6. DiseasesPathological Conditions, Signs and Symptoms Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Pathological Conditions, Anatomical Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Hypertrophy Has associated chemicals Has associated genes Has associated phenotype references Hepatomegaly Has associated chemicals Has associated genes Has associated phenotype references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
7. DiseasesPathological Conditions, Signs and Symptoms Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Pathological Conditions, Anatomical Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Hypertrophy Has associated chemicals Has associated genes Has associated phenotype references Splenomegaly Has associated chemicals Has associated genes Has associated phenotype references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
8. DiseasesPathological Conditions, Signs and Symptoms Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Signs and Symptoms Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
9. DiseasesPathological Conditions, Signs and Symptoms Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Signs and Symptoms Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Seizures Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references
10. DiseasesMental Disorders Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurodevelopmental Disorders Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Has associated chemicals Has associated genes Has associated phenotype references

Top ↑ Descendants

None.