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
Accession: DOID:0060067
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
primary_id: OMIM:557000
xref: GARD:7343 ; NCI:C115326
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Pearson syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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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 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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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 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
ClinVar Annotator: match by term: Pearson syndrome
ClinVar
NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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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 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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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 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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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 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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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 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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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 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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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 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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