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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.


GViewer not supported for chinchilla.
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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 chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    sensory system disease 4570
      eye disease 2394
        Encephalocraniocutaneous Lipomatosis 1
Path 2
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        sensory system disease 4570
          skin disease 2382
            Genetic Skin Diseases 789
              ectodermal dysplasia 232
                Neurocutaneous Syndromes 142
                  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.