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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Neurocutaneous Syndromes 126
        Encephalocraniocutaneous Lipomatosis 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          skin disease 2470
            Genetic Skin Diseases 757
              ectodermal dysplasia 251
                Neurocutaneous Syndromes 126
                  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.