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Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly MeSH Supplementary Concept Data 2025


MeSH Supplementary
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Unique ID
C563840
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C563840
Entry Term(s)
Stomatin-Deficient Cryohydrocytosis with Neurologic Defects
Registry Numbers
0
Heading Mapped to
*Cataract
*Hepatomegaly
Hyperkalemia / congenital
*Intellectual Disability
*Seizures
*Splenomegaly
Frequency
0
Date of Entry
2012/11/05
Revision Date
2013/11/06
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Preferred
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