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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


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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 term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 2C OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21376300 PMID:21820098 PMID:22258533 More... NCBI chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        Nervous System Malformations 2357
          hereditary sensory neuropathy 51
            hereditary sensory and autonomic neuropathy type 2 10
              hereditary sensory neuropathy type 2C 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        central nervous system disease 11844
          neurodegenerative disease 4710
            Nervous System Heredodegenerative Disorders 3231
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 2 10
                  hereditary sensory neuropathy type 2C 1
paths to the root