congenital generalized lipodystrophy type 3 (Q32147698)
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A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
- BSCL3
- CGL3
- Berardinelli-Seip congenital lipodystrophy type 3
- LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3
- Berardinelli-Seip Congenital Lipodystrophy, Type 3
- Lipodystrophy, Berardinelli-Seip Congenital, Type 3
- LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
- Type 3 Berardinelli-Seip congenital lipodystrophy
Language | Label | Description | Also known as |
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English | congenital generalized lipodystrophy type 3 |
A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. |
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