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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


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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 term: Hereditary sensory and autonomic neuropathy type IIB | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19838196 PMID:24327336 PMID:25741868 More... NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Nervous System Malformations 2383
          hereditary sensory neuropathy 51
            hereditary sensory and autonomic neuropathy type 2 10
              hereditary sensory and autonomic neuropathy type 2B 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 2 10
                  hereditary sensory and autonomic neuropathy type 2B 1
paths to the root