Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital generalized lipodystrophy type 1
Summary
- Synonym
-
- Berardinelli-Seip Congenital Lipodystrophy, Type 1
- Brunzell syndrome AGPAT2-related
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
- Super Class
- congenital generalized lipodystrophy
External Links
- Disease Ontology
- DOID:0111135
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000876 | Oligomenorrhea |
| HP:0002240 | Hepatomegaly |
| HP:0012062 | Bone cyst |
| HP:0001635 | Congestive heart failure |
| HP:0000998 | Hypertrichosis |
| HP:0003247 | Overgrowth of external genitalia |
| HP:0000842 | Hyperinsulinemia |
| HP:0002155 | Hypertriglyceridemia |
| HP:0008887 | Adipose tissue loss |
| HP:0001263 | Global developmental delay |
