MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandautosomal recessive cerebellar ataxia (MONDO:0015244)
..Starting node
..expandautosomal recessive metabolic cerebellar ataxia ()

       Child Nodes:
........expandabetalipoproteinemia ()
........expandadult Refsum disease ()
........expandautosomal recessive ataxia due to PEX10 deficiency ()
........expandautosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome ()
........expandautosomal recessive cerebellar ataxia with late-onset spasticity ()
........expandcerebrotendinous xanthomatosis ()
........expandfamilial isolated deficiency of vitamin E ()
........expandinfantile Refsum disease ()
........expandrecessive mitochondrial ataxia syndrome ()



 Sister Nodes: 
..expandautosomal recessive ataxia due to ubiquinone deficiency ()  LSDB  L: 00443;
..expandautosomal recessive ataxia, Beauce type ()
..expandautosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome ()
..expandautosomal recessive cerebellar ataxia due to a DNA repair defect ()
..expandautosomal recessive congenital cerebellar ataxia ()
..expandautosomal recessive degenerative and progressive cerebellar ataxia ()
..expandautosomal recessive metabolic cerebellar ataxia ()
..expandautosomal recessive spastic ataxia ()
..expandautosomal recessive spinocerebellar ataxia 10 ()
..expandautosomal recessive spinocerebellar ataxia 14 ()
..expandautosomal recessive spinocerebellar ataxia 16 ()
..expandautosomal recessive spinocerebellar ataxia 20 ()
..expandautosomal recessive spinocerebellar ataxia 7 ()
..expandautosomal recessive syndromic cerebellar ataxia ()
..expandinfantile-onset autosomal recessive nonprogressive cerebellar ataxia ()
..expandLichtenstein-Knorr syndrome ()
..expandspinocerebellar ataxia, autosomal recessive 22 ()
..expandspinocerebellar ataxia, autosomal recessive 25 ()
..expandspinocerebellar ataxia, autosomal recessive 26 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20044
Name:autosomal recessive metabolic cerebellar ataxia
Definition:
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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