Preferred Name

Familial multiple lipomatosis

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:C3489413

OMIM:151900

ICD-10:E88.2

label

Familial multiple lipomatosis

notation

ORPHA:199276

part_of

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

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

prefixIRI

ORDO:Orphanet_199276

prefLabel

Familial multiple lipomatosis

treeView

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

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

subClassOf

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

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

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_199276 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/MESH/D000071070 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0007909 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007909 Experimental Factor Ontology / 实验性因素本体 LOOM