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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 5
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Accession:DOID:0070145 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: HSAN 5;   HSAN Type V;   HSAN V;   HSAN5;   congenital sensory neuropathy with selective loss of small myelinated fibers;   hereditary sensory and autonomic neuropathy, type V;   hereditary sensory autonomic neuropathy, type 5
 alt_id: OMIM:608654
 xref: GARD:12328;   NCI:C125386;   NCI:C156360;   ORDO:608654
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngf nerve growth factor ISO ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers ClinVar
OMIM
PMID:14976160 PMID:15131306 PMID:18420729 PMID:19038341 PMID:19945432 PMID:20978020 PMID:21358750 PMID:21387003 PMID:22330829 PMID:25741868 PMID:26215504 PMID:28492532 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers ClinVar PMID:24207120 PMID:25741868 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Congenital Pain Insensitivity 11
        hereditary sensory and autonomic neuropathy type 5 2
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                hereditary sensory and autonomic neuropathy type 5 2
paths to the root