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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| 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 |
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| altLabel |
lipodystrophy, familial partial Koberling-Dunnigan syndrome FPLD congenital partial lipodystrophy genetic partial lipodystrophy
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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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| label |
familial partial lipodystrophy
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| prefixIRI |
MONDO:0020088
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| prefLabel |
familial partial lipodystrophy
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| textual 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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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020087 |
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