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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 chr10:38,989,516...38,993,259 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 PMID:32165824 NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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
ClinVar Annotator: match by term: Sorbitol dehydrogenase deficiency with peripheral neuropathy
OMIM
ClinVar
PMID:25741868 PMID:32367058 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        peripheral nervous system disease 2536
          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