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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 neuropathy type 4
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Accession:DOID:0070146 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (DO)
Synonyms:exact_synonym: CIPA;   HSAN 4;   HSAN IV;   HSAN type IV;   HSAN4;   congenital insensitivity to pain with anhidrosis;   congenital pain insensitivity with anhidrosis;   congenital sensory neuropathy with anhidrosis;   familial dysautonomia, type II;   hereditary sensory and autonomic neuropathy 4;   hereditary sensory and autonomic neuropathy IV;   hereditary sensory and autonomic neuropathy, type 4;   hereditary sensory and autonomic neuropathy, type IV;   hereditary sensory autonomic neuropathy, type 4;   hereditary sensory neuropathy type IV
 primary_id: OMIM:256800
 xref: GARD:3006;   NCI:C118633;   ORDO:642
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory neuropathy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar Annotator: match by term: HSAN 4
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II
OMIM
ClinVar
PMID:77656, PMID:0233776, PMID:8696348, PMID:10090906, PMID:10233776, PMID:10330344, PMID:10443680, PMID:10861667, PMID:10982191, PMID:11071380, PMID:11139246, PMID:11159935, PMID:11310631, PMID:11668614, PMID:11719521, PMID:11748840, PMID:12210794, PMID:12406349, PMID:12949319, PMID:15534759, PMID:16373086, PMID:18056464, PMID:18179783, PMID:18322713, PMID:19250380, PMID:19598235, PMID:19618435, PMID:19651702, PMID:20003389, PMID:21708027, PMID:22032467, PMID:22302274, PMID:22397633, PMID:22653642, PMID:22957891, PMID:23112235, PMID:23241418, PMID:23799134, PMID:24088041, PMID:24154508, PMID:25359976, PMID:25741868, PMID:26215504, PMID:26467025, PMID:26633545, PMID:27058611, PMID:27265460, PMID:27544236, PMID:27551041, PMID:27676246, PMID:27698470, PMID:28192073, PMID:28328124, PMID:28345382, PMID:28492532, PMID:28981924, PMID:29619836, PMID:29770739, PMID:30774415, PMID:32214227 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Congenital Pain Insensitivity 11
        hereditary sensory neuropathy type 4 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            sweat gland disease 39
              hypohidrosis 20
                anhidrosis 4
                  hereditary sensory neuropathy type 4 2
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.