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familial partial lipodystrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0020088

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. [ Orphanet:98306 ]

Synonyms: FPLD Koberling-Dunnigan syndrome genetic partial lipodystrophy lipodystrophy, familial partial congenital partial lipodystrophy

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:49292002 (MONDO:equivalentTo)
  • UMLS:C0271694 (MONDO:equivalentTo)
  • Orphanet:98306 (MONDO:equivalentTo)
  • MEDGEN:124408 (MONDO:equivalentTo)
  • NORD:1131 (MONDO:NORD)
  • DOID:0050440 (MONDO:equivalentTo)
  • OMIMPS:151660 (https://orcid.org/0000-0002-6601-2165)
  • MESH:D052496 (Orphanet:98306/e)
  • NANDO:1200861 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C84708 (MONDO:equivalentTo)
  • GARD:11962 (MONDO:GARD)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84708

https://omim.org/phenotypicSeries/PS151660

http://www.orpha.net/ORDO/Orphanet_98306

http://identifiers.org/snomedct/49292002

http://purl.obolibrary.org/obo/DOID_0050440

http://linkedlifedata.com/resource/umls/id/C0271694

http://identifiers.org/mesh/D052496

http://identifiers.org/medgen/124408

id

MONDO:0020088