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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:multiple symmetric lipomatosis
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Accession:EFO:1000737 term browser browse the term
Definition:a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region. Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
Synonyms:exact_synonym: Launois-Bensaude lipomatosis;   Launois-Bensaude's lipomatosis;   Madelung disease;   Madelung's neck;   cephalothoracic lipodystrophy;   cervical symmetrical lipomatosis;   familial benign cervical lipomatosis;   multiple symmetrical lipomatosis
 related_synonym: Launois-Bensaude syndrome;   MSL;   Madelung's disease;   benign symmetrical lipomatosis;   familial symmetric lipomatosis
 xref: DOID:14116;   DOID:3137;   GARD:6957;   MEDGEN:7349;   MIM:151800;   MONDO:0007908;   MedDRA:10084240;   NCI:C4392;   NORD:1392;   ORDO:2398;   SCTID:238902007;   UMLS:C0023804
 see_also: https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis" xsd:anyURI {source="GARD:0006957



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Term Annotations click to browse term
  experimental factor 554647
    material property 111610
      disposition 74747
        disease 74662
          connective tissue disease 8246
            hereditary disorder of connective tissue 963
              multiple symmetric lipomatosis 0
Path 2
Term Annotations click to browse term
  experimental factor 554647
    material property 111610
      disposition 74747
        disease 74662
          cancer or benign tumor 17498
            neoplastic disease or syndrome 17152
              neoplasm 17152
                benign neoplasm 993
                  musculoskeletal system benign neoplasm 964
                    benign connective and soft tissue neoplasm 11
                      benign lipomatous neoplasm 11
                        lipomatosis 0
                          multiple symmetric lipomatosis 0
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