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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
 alt_id: MIM:613001



show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis
OMIM
CTD
ClinVar
PMID:10766980 PMID:11173846 PMID:14513299 PMID:15793702 PMID:23819449 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Neurocutaneous Syndromes 364
        Encephalocraniocutaneous Lipomatosis 2
Path 2
Term Annotations click to browse term
  disease 19076
    Pathological Conditions, Signs and Symptoms 13489
      Signs and Symptoms 11037
        Neurologic Manifestations 10284
          sensory system disease 7183
            skin disease 4190
              Genetic Skin Diseases 1882
                ectodermal dysplasia 544
                  Neurocutaneous Syndromes 364
                    Encephalocraniocutaneous Lipomatosis 2
paths to the root