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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 1F
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Accession:DOID:0070154 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: HSN 1F;   HSN IF;   HSN1F;   hereditary sensory neuropathy type IF
 primary_id: OMIM:615632
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory neuropathy type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by OMIM:615632
ClinVar Annotator: match by term: Hereditary sensory neuropathy type IF
OMIM
ClinVar
PMID:24459106, PMID:24736309, PMID:28492532, PMID:30680846 NCBI chr 1:222,746,023...222,788,439
Ensembl chr 1:222,746,023...222,786,942
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Nervous System Malformations 1100
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 1 13
              hereditary sensory neuropathy type 1F 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 1 13
                  hereditary sensory neuropathy type 1F 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.