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familial angiolipomatosis

^ http://purl.obolibrary.org/obo/MONDO_0008792


Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. [ Orphanet:199279 ]

Term info

database cross reference
  • OMIM:206550 (Orphanet:199279/e)
  • MESH:C565951 (MONDO:equivalentTo)
  • UMLS:C1859784 (Orphanet:199279)
  • Orphanet:199279 (OMIM:206550)
Subsets

ordo_disease

definition

Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.

exactMatch

https://omim.org/entry/206550, http://identifiers.org/mesh/C565951, http://purl.obolibrary.org/obo/Orphanet_199279, http://linkedlifedata.com/resource/umls/id/C1859784

has related synonym

angiolipoma Microthromboticum, angiolipomatosis, familial

id

MONDO:0008792

Term relations