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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:Symmetric Acroleukopathy
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Accession:DOID:9001520 term browser browse the term
Synonyms:primary_id: MESH:C566322
 alt_id: OMIM:102000
 xref: MONDO:0007049


show annotations for term's descendants           Sort by:
Symmetric Acroleukopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Acroleukopathy, symmetric ClinVar PMID:22319033 PMID:23038625 PMID:25741868 PMID:26792934 PMID:27253664 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        pigmentation disease 277
          Symmetric Acroleukopathy 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              pigmentation disease 277
                Symmetric Acroleukopathy 1
paths to the root