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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:0011407 | Proportionate tall stature |
| HP:0001508 | Failure to thrive |
| HP:0000956 | Acanthosis nigricans |
| HP:0003124 | Hypercholesterolemia |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0001833 | Long foot |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0001176 | Large hands |
| HP:0010465 | Precocious puberty in females |
| HP:0001397 | Hepatic steatosis |
