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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:Encephalocraniocutaneous Lipomatosis
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Accession:DOID:9007632 term browser browse the term
Synonyms:exact_synonym: ECCL;   Fishman syndrome
 primary_id: MESH:C535736;   RDO:0001021
 alt_id: OMIM:613001
For additional species annotation, visit the Alliance of Genome Resources.


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Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO OMIM NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12725
    sensory system disease 4841
      eye disease 2524
        Encephalocraniocutaneous Lipomatosis 1
Path 2
Term Annotations click to browse term
  disease 12725
    disease of anatomical entity 12264
      nervous system disease 10017
        sensory system disease 4841
          skin disease 2534
            Genetic Skin Diseases 844
              ectodermal dysplasia 243
                Neurocutaneous Syndromes 147
                  Encephalocraniocutaneous Lipomatosis 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.