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Cell Culture Ontology
| Preferred Name | congenital generalized lipodystrophy | |
| Synonyms |
hereditary generalized lipodystrophy lipodystrophy, congenital generalized lipodystrophy, congenital generalised congenital generalized lipodystrophy Berardinelli-Seip congenital lipodystrophy hereditary generalised lipodystrophy congenital generalised lipodystrophy (disease) familial generalised lipodystrophy Beradinelli-Seip syndrome familial generalized lipodystrophy congenital generalized lipodystrophy (disease) |
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| Definitions |
a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems. An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_1000681 |
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| database_cross_reference |
SCTID:284449005 OMIMPS:608594 DOID:0050585 UMLS:C0221032 MedDRA:10053432 MONDO:0006536 NANDO:1200859 MEDGEN:67438 HP:0009059 NORD:998
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|
| definition |
a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems. An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.
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| definition_citation |
http://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy |
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| has_exact_synonym |
hereditary generalized lipodystrophy lipodystrophy, congenital generalized lipodystrophy, congenital generalised congenital generalized lipodystrophy Berardinelli-Seip congenital lipodystrophy hereditary generalised lipodystrophy congenital generalised lipodystrophy (disease) familial generalised lipodystrophy Beradinelli-Seip syndrome familial generalized lipodystrophy congenital generalized lipodystrophy (disease)
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| IAO_0000589 |
congenital generalized lipodystrophy (disease)
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|
| id |
EFO:1000681
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
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| label |
congenital generalized lipodystrophy
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| notation |
EFO:1000681
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| preferred label |
congenital generalized lipodystrophy
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| prefLabel |
congenital generalized lipodystrophy
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| skos_exactMatch |
http://identifiers.org/snomedct/284449005 https://omim.org/phenotypicSeries/PS608594 http://linkedlifedata.com/resource/umls/id/C0221032 http://identifiers.org/medgen/67438 |
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| term editor |
Sirarat Sarntivijai
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| subClassOf |
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