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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

Top ↑ Ancestors

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

Top ↑ Descendants

None.