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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 6
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Accession:DOID:0070151 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. (DO)
Synonyms:exact_synonym: HSAN VI;   HSAN6;   hereditary sensory and autonomic neuropathy, type VI
 primary_id: OMIM:614653
 alt_id: RDO:9000614
 xref: ORDO:314381
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory and autonomic neuropathy type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO ClinVar Annotator: match by OMIM:614653
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI
OMIM
ClinVar
PMID:20164846, PMID:22522446, PMID:24033266, PMID:25059916, PMID:25741868, PMID:28492532, PMID:28558912 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        Nervous System Malformations 1082
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 6 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          neurodegenerative disease 3188
            Nervous System Heredodegenerative Disorders 1949
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 6 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.