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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:encephalocraniocutaneous lipomatosis
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Accession:EFO:MONDO:0013074 term browser browse the term
Definition:A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
Synonyms:exact_synonym: ECCL;   Fishman syndrome;   Haberland syndrome;   encephalocraniocutaneous lipomatosis, somatic mosaic
 alt_id: MONDO:0013074
 xref: GARD:2108;   ICD9:757.8;   MEDGEN:140807;   MESH:C535736;   MIM:613001;   NCI:C4701;   ORDO:2396;   SCTID:238905009;   UMLS:C0406612;   icd11.foundation:1084215843
 see_also: https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis" xsd:anyURI {source="GARD:0002108


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            subcutaneous tissue disorder 0
              encephalocraniocutaneous lipomatosis 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          cancer or benign tumor 0
            neoplastic disease or syndrome 0
              neoplasm 0
                benign neoplasm 0
                  musculoskeletal system benign neoplasm 0
                    benign connective and soft tissue neoplasm 0
                      benign lipomatous neoplasm 0
                        lipomatosis 0
                          encephalocraniocutaneous lipomatosis 0
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