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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:mongolian spot
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Accession:DOID:4702 term browser browse the term
Definition:A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood.
Synonyms:exact_synonym: Mongolian Blue Spot;   Mongolian macula
 primary_id: MESH:D049328
 alt_id: RDO:0007559
 xref: NCI:C3945
For additional species annotation, visit the Alliance of Genome Resources.


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mongolian spot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Mongolian spot ClinVar NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        mongolian spot 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      Neoplasms by Histologic Type 3728
        Nevi and Melanomas 334
          Nevus 18
            Pigmented Nevus 8
              mongolian spot 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.