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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 ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar
OMIM
PMID:10766980 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        Encephalocraniocutaneous Lipomatosis 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            Genetic Skin Diseases 894
              ectodermal dysplasia 252
                Neurocutaneous Syndromes 152
                  Encephalocraniocutaneous Lipomatosis 1
paths to the root