loading...| Preferred Name |
congenital generalized lipodystrophy |
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| Synonyms |
Berardinelli-Seip congenital lipodystrophy Beradinelli-Seip syndrome congenital generalised lipodystrophy (disease) lipodystrophy, congenital generalised hereditary generalized lipodystrophy lipodystrophy, congenital generalized congenital generalized lipodystrophy (disease) familial generalised lipodystrophy congenital generalized lipodystrophy hereditary generalised lipodystrophy familial generalized lipodystrophy |
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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 |
DOID:0050585 MedDRA:10053432 MONDO:0006536 NORD:998 SCTID:284449005 OMIMPS:608594 HP:0009059 |
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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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| exactMatch |
http://identifiers.org/snomedct/284449005 |
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| has_exact_synonym |
Berardinelli-Seip congenital lipodystrophy Beradinelli-Seip syndrome congenital generalised lipodystrophy (disease) lipodystrophy, congenital generalised hereditary generalized lipodystrophy lipodystrophy, congenital generalized congenital generalized lipodystrophy (disease) familial generalised lipodystrophy congenital generalized lipodystrophy hereditary generalised lipodystrophy familial generalized lipodystrophy |
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| IAO_0000589 |
congenital generalized lipodystrophy (disease) |
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| id |
EFO:1000681 |
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| in_subset | ||
| label |
congenital generalized lipodystrophy |
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| notation |
EFO:1000681 |
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| prefLabel |
congenital generalized lipodystrophy |
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| term editor |
Sirarat Sarntivijai |
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| subClassOf |