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RGD uses the Human Disease Ontology (DO, 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 IAGP ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar
PMID:10766980, PMID:23819449, PMID:25705862, PMID:26619011, PMID:26822237, PMID:26942290, PMID:27626068 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    sensory system disease 5736
      eye disease 3011
        Encephalocraniocutaneous Lipomatosis 1
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17350
      nervous system disease 13440
        sensory system disease 5736
          skin disease 2904
            Genetic Skin Diseases 995
              ectodermal dysplasia 285
                Neurocutaneous Syndromes 168
                  Encephalocraniocutaneous Lipomatosis 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.