Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	familial partial lipodystrophy
Synonyms	genetic partial lipodystrophy Koberling-Dunnigan syndrome lipodystrophy, familial partial congenital partial lipodystrophy FPLD
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	SCTID:49292002 MEDGEN:124408 MESH:D052496 OMIMPS:151660 NCIT:C84708 NANDO:1200861 DOID:0050440 icd11.foundation:1661968243 Orphanet:98306 UMLS:C0271694 GARD:11962 NORD:1131
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.
has_exact_synonym	genetic partial lipodystrophy Koberling-Dunnigan syndrome lipodystrophy, familial partial congenital partial lipodystrophy FPLD
id	MONDO:0020088
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#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label	familial partial lipodystrophy
notation	MONDO:0020088
preferred label	familial partial lipodystrophy
prefLabel	familial partial lipodystrophy
skos_exactMatch	http://purl.obolibrary.org/obo/NCIT_C84708 http://identifiers.org/mesh/D052496 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1661968243 http://purl.obolibrary.org/obo/Orphanet_98306 http://identifiers.org/medgen/124408 http://linkedlifedata.com/resource/umls/id/C0271694 http://purl.obolibrary.org/obo/DOID_0050440 http://identifiers.org/snomedct/49292002 https://omim.org/phenotypicSeries/PS151660
subClassOf	http://purl.obolibrary.org/obo/MONDO_0020087 http://purl.obolibrary.org/obo/MONDO_0021106 http://purl.obolibrary.org/obo/MONDO_0027767

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0020088	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020088	HSPO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020088	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020088	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050440	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0020088	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020088	HSPO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020088	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020088	DOVES	LOOM
http://nanbyodata.jp/ontology/NANDO_1200861	NANDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C84708	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087377	MEDDRA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Familial_Partial_Lipodystrophy	CSEO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14702	DERMLEX	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13323	HRDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84708	NCIT	LOOM
http://purl.obolibrary.org/obo/DERMO_0001316	DERMO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/49292002	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/DOID_0050440	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0050440	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050440	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0050440	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050440	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0050440	FNS-H	LOOM
http://www.orpha.net/ORDO/Orphanet_98306	ORDO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050440	NATPRO	LOOM