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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 1A
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Accession:DOID:0070152 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: HSAN IA;   HSAN1A;   HSN IA;   HSN1A;   hereditary sensory and autonomic neuropathy type I, severe;   hereditary sensory and autonomic neuropathy, type IA;   hereditary sensory neuropathy type IA;   hereditary sensory radicular neuropathy, autosomal dominant, type 1A
 primary_id: OMIM:162400
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory and autonomic neuropathy type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A OMIM
ClinVar
PMID:11242106, PMID:11242114, PMID:11479835, PMID:12417569, PMID:13646503, PMID:14152213, PMID:15037712, PMID:15546589, PMID:16210380, PMID:16364956, PMID:18018475, PMID:19132419, PMID:19651702, PMID:19923297, PMID:20097765, PMID:20504773, PMID:22302274, PMID:24673574, PMID:25584079, PMID:25741868, PMID:26467025, PMID:26681808, PMID:28492532, PMID:31509666, PMID:32581362 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
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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 and autonomic neuropathy type 1A 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 and autonomic neuropathy type 1A 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.