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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:hereditary sensory neuropathy type 2C
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Accession:DOID:0070147 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: HSN2C;   hereditary sensory and autonomic neuropathy, type IIC;   hereditary sensory neuropathy, type IIC
 primary_id: OMIM:614213
 alt_id: RDO:9000616
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory neuropathy type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by OMIM:614213
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC
OMIM
ClinVar
PMID:18414213, PMID:21376300, PMID:21820098, PMID:25741868, PMID:26077850, PMID:26467025, PMID:28492532, PMID:29590070 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        Nervous System Malformations 1082
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 2 5
              hereditary sensory neuropathy type 2C 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 2 5
                  hereditary sensory neuropathy type 2C 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.