MedGen Find_IDs Find_Terms Annotation
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created at 2024-09-19 07:43:07 UTC
updated at 2024-09-23 18:19:38 UTC
MedGen CUI
Namespace: https://www.ncbi.nlm.nih.gov/medgen/
622,528 entries
Label
Id
Cerebellopathy, hereditary paroxysmal C1720416
ataxia, familial paroxysmal C1720416
ataxia, familial, paroxysmal C1720416
Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia C1720416
Cerebellar ataxia, paroxysmal, Acetazolamide-responsive C1720416
cerebellar ataxia, paroxysmal, Acetazolamide-responsive C1720416
Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia C1720416
ATAXIA, EPISODIC, WITH NYSTAGMUS C1720416
Ataxia, Episodic, With Nystagmus C1720416
Familial paroxysmal ataxia C1720416
Nystagmus-associated episodic ataxia C1720416
familial paroxysmal ataxia C1720416
hereditary episodic ataxia caused by mutation in CACNA1A C1720416
Acetazolamide-responsive episodic ataxia syndrome C1720416
CACNA1A hereditary episodic ataxia C1720416