Term Name: | congenital generalized lipodystrophy type 1 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111135] ( DOID:0111135 ) |