loading...| Preferred Name |
familial partial lipodystrophy |
|
| Synonyms |
lipodystrophy, familial partial Koberling-Dunnigan syndrome FPLD congenital partial lipodystrophy genetic partial lipodystrophy |
|
| Definitions |
Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020088 |
|
| database_cross_reference |
NCIT:C84708 MESH:D052496 Orphanet:98306 GARD:11962 SCTID:49292002 NORD:1131 OMIMPS:151660 UMLS:C0271694 DOID:0050440 |
|
| definition |
Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84708 http://identifiers.org/mesh/D052496 http://purl.obolibrary.org/obo/Orphanet_98306 http://linkedlifedata.com/resource/umls/id/C0271694 http://purl.obolibrary.org/obo/DOID_0050440 |
|
| has_exact_synonym |
lipodystrophy, familial partial Koberling-Dunnigan syndrome FPLD congenital partial lipodystrophy genetic partial lipodystrophy |
|
| id |
MONDO:0020088 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
familial partial lipodystrophy |
|
| notation |
MONDO:0020088 |
|
| preferred label |
familial partial lipodystrophy |
|
| prefLabel |
familial partial lipodystrophy |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020087 |