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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1F		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21494555 PMID:24459106 More... NCBI chr19:7,471,178...7,515,974
Ensembl chr19:7,471,405...7,517,039 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        Nervous System Malformations 2388
          hereditary sensory neuropathy 51
            hereditary sensory and autonomic neuropathy type 1 25
              hereditary sensory neuropathy type 1F 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          neurodegenerative disease 4809
            Nervous System Heredodegenerative Disorders 3286
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 1 25
                  hereditary sensory neuropathy type 1F 1
paths to the root