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ONTOLOGY REPORT - ANNOTATIONS


Term:Alpers-Huttenlocher syndrome
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Accession:DOID:0080122 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. (DO)
Synonyms:exact_synonym: Alper Syndrome;   Alper disease;   Alper's disease;   Alper's syndrome;   Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis;   Alpers disease;   Alpers progressive infantile poliodystrophy;   Alpers syndrome;   Alpers' disease or gray-matter degeneration;   Diffuse Cerebral Sclerosis;   Diffuse Cerebral Sclerosis of Schilder;   Encephalitis Periaxialis;   Encephalitis Periaxialis Concentrica;   Encephalitis Periaxialis Diffusa;   MTDPS4A;   Myelinoclastic Diffuse Scleroses;   Myelinoclastic Diffuse Sclerosis;   PNDC;   Schilder disease;   Schilder's disease;   Schilders disease;   diffuse cerebral scleroses;   mitochondrial DNA depletion syndrome 4A;   mitochondrial DNA depletion syndrome 4A (Alpers type);   poliodystrophia cerebri;   progressive neuronal degeneration of childhood with liver disease;   progressive sclerosing poliodystrophies;   progressive sclerosing poliodystrophy;   sudanophilic cerebral sclerosis
 primary_id: MESH:D002549
 alt_id: DOID:1442;   OMIM:203700
 xref: GARD:5783;   ICD10CM:G31.81;   NCI:C35257;   ORDO:726
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Alpers-Huttenlocher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:8554872
RGD:15039298
RGD:11554173
RGD:7240710
RGD:8694284
RGD:8694317
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    Nutritional and Metabolic Diseases 4644
      disease of metabolism 4644
        Metabolic Brain Diseases 567
          mitochondrial encephalomyopathy 50
            Alpers-Huttenlocher syndrome 5
              Pelizaeus-Merzbacher like Brain Sclerosis 0
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        peripheral nervous system disease 2368
          neuropathy 2184
            neuromuscular disease 1718
              muscular disease 1129
                muscle tissue disease 758
                  myopathy 612
                    mitochondrial myopathy 86
                      mitochondrial encephalomyopathy 50
                        Alpers-Huttenlocher syndrome 5
                          Pelizaeus-Merzbacher like Brain Sclerosis 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.