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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


show annotations for term's descendants           Sort by:
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
Ensembl chr 4:92,100,973...92,101,568 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 8 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: Neuronopathy, distal hereditary motor, autosomal recessive 8 OMIM
ClinVar		 PMID:8622605 PMID:25741868 PMID:32367058 PMID:32457452 PMID:33201363 More... NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		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:30250212 NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          Inherited Peripheral Neuropathy 3
            OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 1
            autosomal recessive distal hereditary motor neuronopathy 8 1
paths to the root