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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 and autonomic neuropathy type 8
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Accession:DOID:0070153 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (OMIM)
Synonyms:exact_synonym: HSAN VIII;   HSAN8;   hereditary sensory and autonomic neuropathy, type VIII
 primary_id: OMIM:616488
 alt_id: RDO:9001251
 xref: ORDO:478664
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory and autonomic neuropathy type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIII OMIM
ClinVar
PMID:25741868, PMID:25891934, PMID:26005867, PMID:28492532 NCBI chr 3:10,181,104...10,199,185
Ensembl chr 3:10,181,924...10,196,626
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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 8 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 8 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.