hereditary cryohydrocytosis with reduced stomatin (Q55783613)
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human disease
- CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY
- Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
- Stomatin-deficient cryohydrocytosis
- CHC type 2
- sdCHC
- Hereditary cryohydrocytosis type 2
Language | Label | Description | Also known as |
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English | hereditary cryohydrocytosis with reduced stomatin |
human disease |
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