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Ontology Browser
Term:
congenital generalized lipodystrophy type 2 (DOID:0111136)
Annotations: Rat: (3) Mouse: (3) Human: (4) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3) Naked Mole-rat: (3) Green Monkey: (3)
Parent Terms Term With Siblings Child Terms
congenital generalized lipodystrophy type 1  
congenital generalized lipodystrophy type 2  
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. (DO)
congenital generalized lipodystrophy type 3  
congenital generalized lipodystrophy type 4  
Congenital Generalized Lipodystrophy Type 5  
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 

Synonyms
Exact Synonyms: Berardinelli-Seip congenital lipodystrophy type 2 ;   Berardinelli-Seip syndrome ;   Berardinelli-Seip syndrome type 2 ;   Brunzell syndrome BSCL2-related ;   CGL2 ;   total lipodystrophy and acromegaloid gigantism
Primary IDs: OMIM:269700
Xrefs: GARD:10212
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11479539 "DO" "DO"

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