Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Familial multiple lipomatosis

Synonyms
Definitions

Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.

ID

http://www.orpha.net/ORDO/Orphanet_199276

definition

Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276

hasDbXref

UMLS:C1275273

MeSH:D000071070

ICD-11:2E80.0Z

OMIM:151900

ICD-10:E88.2

MedDRA:10081235

label

Familial multiple lipomatosis

notation

ORPHA:199276

part_of

http://www.orpha.net/ORDO/Orphanet_183484

http://www.orpha.net/ORDO/Orphanet_79382

prefixIRI

ORDO:Orphanet_199276

prefLabel

Familial multiple lipomatosis

treeView

http://www.orpha.net/ORDO/Orphanet_183484

http://www.orpha.net/ORDO/Orphanet_79382

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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