loading...| Preferred Name |
familial multiple lipomatosis |
|
| Synonyms |
lipomatosis, multiple lipomatosis, familial multiple lipoma |
|
| 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://purl.obolibrary.org/obo/MONDO_0007909 |
|
| database_cross_reference |
SCTID:766888002 MESH:D000071070 Orphanet:199276 OMIM:151900 DOID:0070518 GARD:12925 ICD9:214.8 ICD9:214.9 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/snomedct/766888002 http://identifiers.org/mesh/D000071070 |
|
| has_related_synonym |
lipomatosis, multiple lipomatosis, familial multiple lipoma |
|
| id |
MONDO:0007909 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
familial multiple lipomatosis |
|
| notation |
MONDO:0007909 |
|
| prefLabel |
familial multiple lipomatosis |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000652 |