congenital generalized lipodystrophy
Information
- Disease name
- congenital generalized lipodystrophy
- Disease ID
- DOID:0050585
- Description
- "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance." [url:https\://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes | Mutation | Description | Source | Links |
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- Disase is a (Disease Ontology)
- DOID:0080298
- Cross Reference ID (Disease Ontology)
- GARD:13388
- Cross Reference ID (Disease Ontology)
- MIM:PS608594
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0009059