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Pearson syndrome - Ontology Report - Rat Genome Database

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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:Pearson syndrome
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Accession:DOID:0060067 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO)
Synonyms:exact_synonym: Pearson marrow-pancreas syndrome;   sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction
 xref: GARD:7343;   MIM:557000;   MONDO:0010797;   NCI:C115326

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Pearson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624786:9,838,102...9,843,506
Ensembl chrNW_004624786:9,838,227...9,843,332 		JBrowse link
G G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,593,288...6,598,980
Ensembl chr16:6,593,287...6,598,979 		JBrowse link
G P ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		JBrowse link
G S Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223 		JBrowse link
G D ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G B ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417 		JBrowse link
G C Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356 		JBrowse link
G R Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G M Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237 		JBrowse link
G H ACADVL acyl-CoA dehydrogenase very long chain IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G P MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G D MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G R Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G M mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G H MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G P MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162 		JBrowse link
G D MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006 		JBrowse link
G R Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G M mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G H MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G P MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G D MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		JBrowse link
G R Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G M mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G H MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G P MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G D MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		JBrowse link
G R Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G H MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G M mt-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288 		JBrowse link
G P MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G D MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842 		JBrowse link
G R Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G M mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806 		JBrowse link
G H MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G P MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G D MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578 		JBrowse link
G R Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G M mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G H MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G R Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G M mt-Nd4l NADH dehydrogenase 4L, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,877...10,173
Ensembl chr MT:9,877...10,173 		JBrowse link
G H MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G P MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G D MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
G R Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G M mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G H MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G P MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266 		JBrowse link
G D MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109 		JBrowse link
G R Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G M mt-Nd6 NADH dehydrogenase 6, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070 		JBrowse link
G H MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G M mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139 		JBrowse link
G H MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G M mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G H MT-TG mitochondrially encoded tRNA-Gly (GGN) IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,991...10,058
Ensembl chr MT:9,991...10,058 		JBrowse link
G M mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G H MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G M mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G H MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G M mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741 		JBrowse link
G H MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336 		JBrowse link
G M mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875 		JBrowse link
G H MT-TR mitochondrially encoded tRNA-Arg (CGN) IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:10,405...10,469
Ensembl chr MT:10,405...10,469 		JBrowse link
G M mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G H MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:32906214 PMID:33633954 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G P ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365 		JBrowse link
G D ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Pearson syndrome 69
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          inherited metabolic disorder 74830
            mitochondrial metabolism disease 8513
              Pearson syndrome 69
paths to the root