Orphanet classification of rare genetic diseases
- Rare genetic disease
ORPHA:98053 -
Rare inborn errors of metabolism
ORPHA:68367 -
Disorder of energy metabolism
ORPHA:79200 -
Creatine deficiency syndrome ORPHA:79172
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Disorder of fatty acid oxidation and ketone body metabolism ORPHA:79174
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Mitochondrial disease ORPHA:68380
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Pyruvate metabolism disorder ORPHA:254746
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Tricarboxylic acid cycle disorder ORPHA:254749
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