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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 1D
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Accession:DOID:0070156 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. (DO)
Synonyms:exact_synonym: HSN1D;   hereditary sensory neuropathy type ID
 primary_id: OMIM:613708
 alt_id: RDO:9000615
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory neuropathy type 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by OMIM:613708
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
ClinVar Annotator: match by term: Hereditary sensory neuropathy type 1D
OMIM
ClinVar
PMID:21194679, PMID:25741868, PMID:28492532 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Nervous System Malformations 1084
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 1 13
              hereditary sensory neuropathy type 1D 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 1 13
                  hereditary sensory neuropathy type 1D 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.