Search Ontology:
Human Disease
congenital generalized lipodystrophy type 2
- Term ID
- DOID:0111136
- Synonyms
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- Berardinelli-Seip congenital lipodystrophy type 2
- Berardinelli-Seip syndrome
- Brunzell syndrome BSCL2-related
- CGL2
- congenital lipoatrophic diabetes
- total lipodystrophy and acromegaloid gigantism
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. https://www.ncbi.nlm.nih.gov/pubmed/11479539
- References
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- GARD:10212
- ICD10CM:E88.1
- MIM:269700
- Ontology
- Human Disease ( DOID:0111136 )
- is a type of
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- inverse disjoint_from
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