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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 disease;   Alper syndrome;   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;   PNDC;   Schilder disease;   Schilder's disease;   Schilders disease;   diffuse cerebral scleroses;   mitochondrial DNA depletion syndrome 4A;   mitochondrial DNA depletion syndrome 4A (Alpers type);   myelinoclastic diffuse sclerosis;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr2A:94,961,024...95,029,437 JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy		 OMIM
RGD
ClinVar		 PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:15039298 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr19:504,823...521,281
Ensembl chr19:584,219...599,783 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7184
      disease of metabolism 7184
        Metabolic Brain Diseases 1502
          mitochondrial encephalomyopathy 69
            Alpers-Huttenlocher syndrome 7
              Pelizaeus-Merzbacher like Brain Sclerosis 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4036
          neuropathy 3845
            neuromuscular disease 3025
              muscular disease 2118
                muscle tissue disease 1274
                  myopathy 986
                    mitochondrial myopathy 110
                      mitochondrial encephalomyopathy 69
                        Alpers-Huttenlocher syndrome 7
                          Pelizaeus-Merzbacher like Brain Sclerosis 0
paths to the root