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Mondo Disease Ontology
| Preferred Name | familial partial lipodystrophy | |
| Synonyms |
lipodystrophy, familial partial Koberling-Dunnigan syndrome FPLD congenital partial lipodystrophy genetic partial lipodystrophy |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0020088 |
|
| database_cross_reference |
icd11.foundation:1661968243 NCIT:C84708 NANDO:1200861 MESH:D052496 Orphanet:98306 GARD:11962 SCTID:49292002 NORD:1131 OMIMPS:151660 MEDGEN:124408 UMLS:C0271694 DOID:0050440
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|
| 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.
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| has_exact_synonym |
lipodystrophy, familial partial Koberling-Dunnigan syndrome FPLD congenital partial lipodystrophy genetic partial lipodystrophy
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|
| id |
MONDO:0020088
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
familial partial lipodystrophy
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|
| notation |
MONDO:0020088
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|
| prefLabel |
familial partial lipodystrophy
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|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| 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 |
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| terms_conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0020087 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020087 |
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