loading...| Preferred Name |
Lipodystrophy, Familial Partial |
|
| Synonyms |
Lipodystrophy, Familial Partial, Associated With PPARg Mutations |
|
| 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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D052496 |
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| 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 |
|
| 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 |
|
| cui |
C1720860 C1720861 C0271694 C1720859 |
|
| DC |
1 |
|
| 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. |
|
| DX |
20070101 |
|
| FX |
D047495 |
|
| HN |
2007; use DIABETES MELLITUS, LIPOATROPHIC 2005-2006 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2007; see DIABETES MELLITUS, LIPOATROPHIC 2005-2006 |
|
| Mapped from | ||
| MDA |
20060705 |
|
| MMR |
20210701 |
|
| 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 |
|
| notation |
D052496 |
|
| prefLabel |
Lipodystrophy, Familial Partial |
|
| TERMUI |
T812608 T576974 T646778 T576975 T646777 T817640 T646781 T646774 T646779 T646780 T646775 T817638 T576972 T646771 T646776 T812606 |
|
| TH |
OMIM (2013) NLM (2005) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D008052 |