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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
 xref: ORDO:314381


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:614653
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 6 | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20164846 PMID:22113475 More... NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Nervous System Malformations 2371
          hereditary sensory neuropathy 51
            hereditary sensory and autonomic neuropathy type 6 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          neurodegenerative disease 4894
            Nervous System Heredodegenerative Disorders 3248
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 6 1
paths to the root