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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 PMID:31474762 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 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        Nervous System Malformations 1041
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 6 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 6 1
paths to the root