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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 2B
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Accession:DOID:0070150 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. (DO)
Synonyms:exact_synonym: HSAN2B;   hereditary sensory and autonomic neuropathy, type IIB
 primary_id: OMIM:613115
 alt_id: OMIA:002032
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory and autonomic neuropathy type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by OMIM:613115
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIB
OMIM
ClinVar
PMID:19838196, PMID:24327336, PMID:25741868, PMID:28492532 NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        Nervous System Malformations 1082
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 2 5
              hereditary sensory and autonomic neuropathy type 2B 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 2 5
                  hereditary sensory and autonomic neuropathy type 2B 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.