Search Ontology:
Human Disease
congenital generalized lipodystrophy type 4
- Term ID
- DOID:0111138
- Synonyms
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- Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
- Brunzell syndrome AGPAT2-related
- congenital generalised lipodystrophy type 4
- generalised congenital lipodystrophy type 4
- generalised congenital lipodystrophy with myopathy
- generalized congenital lipodystrophy type 4
- generalized congenital lipodystrophy with myopathy
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. https://www.ncbi.nlm.nih.gov/pubmed/19726876
- References
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- GARD:10937
- ICD10CM:E88.1
- MIM:613327
- ORDO:228429
- Ontology
- Human Disease ( DOID:0111138 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models