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Ontology Browser

Term:
congenital generalized lipodystrophy type 1 (DOID:0111135)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
congenital generalized lipodystrophy type 1  
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. (DO)
congenital generalized lipodystrophy type 2  
congenital generalized lipodystrophy type 3  
congenital generalized lipodystrophy type 4  
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 

Synonyms
Exact Synonyms: AGPAT2-related Brunzell syndrome ;   BSCL1 ;   Berardinelli Seip congenital lipodystrophy type 1 ;   CGL1
Primary IDs: OMIM:608594
Xrefs: GARD:84
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11967537 "DO"

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