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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:0000147 | Polycystic ovaries |
| HP:0000294 | Low anterior hairline |
| HP:0000141 | Amenorrhea |
| HP:0000303 | Mandibular prognathia |
| HP:0000158 | Macroglossia |
| HP:0000065 | Labial hypertrophy |
| HP:0000325 | Triangular face |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000098 | Tall stature |
| HP:0001639 | Hypertrophic cardiomyopathy |
