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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. Diseases ← Digestive 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. Diseases ← Nervous 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
3. Diseases ← Nervous 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
4. Diseases ← Eye 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
5. Diseases ← Nutritional 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
6. Diseases ← Pathological 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
7. Diseases ← Pathological 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
8. Diseases ← Pathological 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
9. Diseases ← Pathological 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
10. Diseases ← Mental 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.