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Term:infantile Refsum disease
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Accession:DOID:0050444 term browser browse the term
Definition:An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Synonyms:exact_synonym: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL;   Infantile Form of Phytanic Acid Storage Disease;   Infantile Refsum's Disease;   Infantile Refsums Disease;   NEONATAL ADRENOLEUCODYSTROPHY;   PBD1B;   PEROXISOME BIOGENESIS DISORDER (NALD/IRD);   PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE);   PEROXISOME BIOGENESIS DISORDER 1B;   Refsum disease, infantile form;   infantile phytanic acid storage disease
 primary_id: MESH:D052919
 alt_id: OMIM:601539;   RDO:0007602
 xref: ICD10CM:G60.1;   NCI:C84789
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infantile Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:7240710
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:8554872
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 748
          Refsum disease 9
            infantile Refsum disease 6
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          neurodegenerative disease 2942
            Nervous System Heredodegenerative Disorders 1728
              motor peripheral neuropathy 460
                Refsum disease 9
                  infantile Refsum disease 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.