Link to this page
Medical Subject Headings
| Preferred Name | Lipodystrophy, Congenital Generalized | |
| Synonyms |
Congenital Generalized Lipodystrophy Type 1 Diabete, Congenital Lipoatrophic Lipoatrophic Diabete, Congenital Diabetes, Congenital Lipoatrophic Lipodystrophies, Congenital Generalized Congenital Generalized Lipodystrophy Type 2 Berardinelli-Seip Congenital Lipodystrophy Seip Syndrome Generalized Lipodystrophies, Congenital Syndrome, Berardinelli Congenital Lipoatrophic Diabete Total Lipodystrophy and Acromegaloid Gigantism Berardinelli Seip Congenital Lipodystrophy Type 2 Lipodystrophy, Berardinelli-Seip Congenital, Type 1 Lipodystrophy, Total Congenital Generalized Lipodystrophies Brunzell Syndrome, BSCL2 Related Berardinelli-Seip Congenital Lipodystrophy Type 1 Berardinelli-Seip Congenital Lipodystrophy, Type 2 AGPAT2-Related Brunzell Syndrome Lipodystrophy, Berardinelli-Seip Congenital, Type 2 Berardinelli-Seip Congenital Lipodystrophy Type 2 Berardinelli Seip Congenital Lipodystrophy, Type 1 Congenital Lipodystrophy, Berardinelli-Seip Berardinelli Seip Congenital Lipodystrophy, Type 2 Congenital Generalized Lipodystrophy BSCL2-Related Brunzell Syndrome Brunzell Syndrome, AGPAT2-Related Brunzell Syndrome, AGPAT2 Related Syndrome, Berardinelli-Seip Berardinelli Seip Congenital Lipodystrophy Lipodystrophy, Generalized Lipodystrophies, Generalized Lipodystrophies, Total Lipodystrophy, Congenital Generalized, Type 1 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Generalized Lipodystrophy Lipodystrophy, Congenital Generalized, Type 2 Berardinelli Seip Congenital Lipodystrophy Type 1 Generalized Lipodystrophy, Congenital Lipoatrophic Diabetes, Congenital Syndrome, Seip Berardinelli Seip Syndrome Generalized Lipodystrophies Syndrome, Brunzell (with Bone Cysts) Lipodystrophy, Total, And Acromegaloid Gigantism Syndrome, Brunzell Brunzell Syndrome, BSCL2-Related Berardinelli Syndrome Brunzell Syndrome Syndrome, BSCL2-Related Brunzell Lipodystrophy, Berardinelli-Seip Congenital Brunzell Syndrome (with Bone Cysts) Total Lipodystrophies Congenital Lipoatrophic Diabetes Total Lipodystrophy Berardinelli-Seip Syndrome Syndrome, AGPAT2-Related Brunzell |
|
| Definitions |
Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA. It is caused by mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). It is caused by mutation of gene encoding seipin (BSCL2). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D052497 |
|
| altLabel |
Congenital Generalized Lipodystrophy Type 1 Diabete, Congenital Lipoatrophic Lipoatrophic Diabete, Congenital Diabetes, Congenital Lipoatrophic Lipodystrophies, Congenital Generalized Congenital Generalized Lipodystrophy Type 2 Berardinelli-Seip Congenital Lipodystrophy Seip Syndrome Generalized Lipodystrophies, Congenital Syndrome, Berardinelli Congenital Lipoatrophic Diabete Total Lipodystrophy and Acromegaloid Gigantism Berardinelli Seip Congenital Lipodystrophy Type 2 Lipodystrophy, Berardinelli-Seip Congenital, Type 1 Lipodystrophy, Total Congenital Generalized Lipodystrophies Brunzell Syndrome, BSCL2 Related Berardinelli-Seip Congenital Lipodystrophy Type 1 Berardinelli-Seip Congenital Lipodystrophy, Type 2 AGPAT2-Related Brunzell Syndrome Lipodystrophy, Berardinelli-Seip Congenital, Type 2 Berardinelli-Seip Congenital Lipodystrophy Type 2 Berardinelli Seip Congenital Lipodystrophy, Type 1 Congenital Lipodystrophy, Berardinelli-Seip Berardinelli Seip Congenital Lipodystrophy, Type 2 Congenital Generalized Lipodystrophy BSCL2-Related Brunzell Syndrome Brunzell Syndrome, AGPAT2-Related Brunzell Syndrome, AGPAT2 Related Syndrome, Berardinelli-Seip Berardinelli Seip Congenital Lipodystrophy Lipodystrophy, Generalized Lipodystrophies, Generalized Lipodystrophies, Total Lipodystrophy, Congenital Generalized, Type 1 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Generalized Lipodystrophy Lipodystrophy, Congenital Generalized, Type 2 Berardinelli Seip Congenital Lipodystrophy Type 1 Generalized Lipodystrophy, Congenital Lipoatrophic Diabetes, Congenital Syndrome, Seip Berardinelli Seip Syndrome Generalized Lipodystrophies Syndrome, Brunzell (with Bone Cysts) Lipodystrophy, Total, And Acromegaloid Gigantism Syndrome, Brunzell Brunzell Syndrome, BSCL2-Related Berardinelli Syndrome Brunzell Syndrome Syndrome, BSCL2-Related Brunzell Lipodystrophy, Berardinelli-Seip Congenital Brunzell Syndrome (with Bone Cysts) Total Lipodystrophies Congenital Lipoatrophic Diabetes Total Lipodystrophy Berardinelli-Seip Syndrome Syndrome, AGPAT2-Related Brunzell
|
|
| 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 |
C1720862 C0221032 C1720863
|
|
| DC |
1
|
|
| definition |
Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA. It is caused by mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). It is caused by mutation of gene encoding seipin (BSCL2).
|
|
| DX |
20070101
|
|
| 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 |
|
| Machine permutation |
2007; see DIABETES MELLITUS, LIPOATROPHIC 2005-2006
|
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567282 |
|
| MDA |
20060705
|
|
| MMR |
20210630
|
|
| MN |
C18.452.584.563.745 C17.800.849.391.550 C18.452.584.625.550 C18.452.648.398.745 C18.452.880.391.550 C16.320.565.398.745
|
|
| notation |
D052497
|
|
| prefLabel |
Lipodystrophy, Congenital Generalized
|
|
| TERMUI |
T845655 T812619 T782894 T781921 T646769 T812617 T782892 T646767 T812622 T841004 T812620 T841005 T782896 T782895 T646768 T782893 T845654 T841007 T841006 T646797 T576977 T646798 T646799 T782891 T646770 T654695
|
|
| TH |
OMIM (2013) NLM (2005) NLM (2012) GHR (2014) NLM (2007) ORD (2010)
|
|
| tui |
T047 T019
|
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |