MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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expandautosomal recessive metabolic cerebellar ataxia (MONDO:0020044)
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expandmetabolic disease with dementia (MONDO:0020142)
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expandmetabolic disease with pigmentary retinitis (MONDO:0020281)
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expandmonogenic disease with epilepsy (MONDO:0015653)
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expandperoxisomal disease with epilepsy (MONDO:0016398)
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expandperoxisome biogenesis disorder (MONDO:0019234)
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expandunclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node
..expandinfantile Refsum disease ()

       Child Nodes:
........expandperoxisome biogenesis disorder 11B ()
........expandperoxisome biogenesis disorder 14B ()
........expandperoxisome biogenesis disorder 2B ()
........expandperoxisome biogenesis disorder 4B ()
........expandperoxisome biogenesis disorder 5B ()
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........expandperoxisome biogenesis disorder 7B ()
........expandperoxisome biogenesis disorder 8B ()
........expandperoxisome biogenesis disorder type 3B ()



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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19174
Name:infantile Refsum disease
Definition:Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).
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Synonyms:infantile form of phytanic acid storage disease; IRD; Refsum disease, infantile form
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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