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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:Inherited Peripheral Neuropathy
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Accession:DOID:9006079 term browser browse the term
Synonyms:primary_id: MESH:C548028;   RDO:0004640
For additional species annotation, visit the Alliance of Genome Resources.



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Inherited Peripheral Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HINT1 histidine triad nucleotide binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961002 NCBI chr11:19,551,057...19,555,390 JBrowse link
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase ISO ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ClinVar PMID:25741868 NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277
JBrowse link
Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM
ClinVar
PMID:25741868 PMID:32367058 PMID:33381078 PMID:33397963 PMID:33875678 NCBI chr30:11,467,259...11,501,166
Ensembl chr30:11,467,253...11,500,641
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14316
      nervous system disease 12142
        peripheral nervous system disease 2882
          Inherited Peripheral Neuropathy 3
            OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 1
            Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy 1
paths to the root