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Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D052496
http://purl.bioontology.org/ontology/MESH/D052496
|
|---|---|
| Preferred Name | Lipodystrophy, Familial Partial |
| Definitions |
Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
This type can be caused by mutation in the gene encoding LAMIN TYPE A.
|
| Synonyms |
Lipodystrophy, Familial Partial, Associated With PPARg Mutations
Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophies
Partial Lipodystrophies, Reverse
Familial Partial Lipodystrophy, Kobberling Type
Lipodystrophy, Familial, of Limbs and Lower Trunk
Lipodystrophy, Familial Partial, Type 2
Familial Partial Lipodystrophy, Type 3
Reverse Partial Lipodystrophy
Familial Partial Lipodystrophy
Koberling Dunnigan Syndrome
Partial Lipodystrophy, Familial
Koberling-Dunnigan Syndrome
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 1
Reverse Partial Lipodystrophies
Lipodystrophy, Familial Partial, Kobberling Type
Familial Partial Lipodystrophy, Type 2
Lipodystrophy, Reverse Partial
Partial Lipodystrophy, Reverse
Dunnigan Syndrome
Lipodystrophy, Familial Partial, Dunnigan Type
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA. This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA. This type can be caused by mutation in the gene encoding LAMIN TYPE A. |
|---|---|
| altLabel |
Lipodystrophy, Familial Partial, Associated With PPARg Mutations
Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophies
Partial Lipodystrophies, Reverse
Familial Partial Lipodystrophy, Kobberling Type
Lipodystrophy, Familial, of Limbs and Lower Trunk
Lipodystrophy, Familial Partial, Type 2
Familial Partial Lipodystrophy, Type 3
Reverse Partial Lipodystrophy
Familial Partial Lipodystrophy
Koberling Dunnigan Syndrome
Partial Lipodystrophy, Familial
Koberling-Dunnigan Syndrome
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 1
Reverse Partial Lipodystrophies
Lipodystrophy, Familial Partial, Kobberling Type
Familial Partial Lipodystrophy, Type 2
Lipodystrophy, Reverse Partial
Partial Lipodystrophy, Reverse
Dunnigan Syndrome
Lipodystrophy, Familial Partial, Dunnigan Type
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|
| prefLabel |
Lipodystrophy, Familial Partial
|
| TH |
OMIM (2013)
NLM (2005)
NLM (2007)
ORD (2010)
|
| notation |
D052496
|
| DX |
20070101
|
| Machine permutation |
2007; see DIABETES MELLITUS, LIPOATROPHIC 2005-2006
|
| MN |
C17.800.849.391.700
C18.452.584.563.798
C18.452.880.391.700
C18.452.584.625.700
C16.320.488.813
|
| FX |
D047495
|
| MMR |
20210701
|
| Mapped from | |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| HN |
2007; use DIABETES MELLITUS, LIPOATROPHIC 2005-2006
|
| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
|
| MDA |
20060705
|
| Inverse of RO | |
| type | |
| tui |
T047
|
| cui |
C1720860
C1720861
C0271694
C1720859
|
| Inverse of AQ |
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| TERMUI |
T812608
T576974
T646778
T576975
T646777
T817640
T646781
T646774
T646779
T646780
T646775
T817638
T576972
T646771
T646776
T812606
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