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Ontology Browser

Term:
congenital generalized lipodystrophy type 4 (DOID:0111138)
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  
congenital generalized lipodystrophy type 2  
congenital generalized lipodystrophy type 3  
congenital generalized lipodystrophy type 4  
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. (DO)
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 

Synonyms
Exact Synonyms: BSCL4 ;   Berardinelli-Seip congenital lipodystrophy type 4, with muscular dystrophy ;   Brunzell syndrome AGPAT2-related ;   CGL4 ;   GCL4 ;   generalised congenital lipodystrophy type 4 ;   generalised congenital lipodystrophy with myopathy ;   generalized congenital lipodystrophy with myopathy
Primary IDs: MESH:C567642
Alternate IDs: OMIM:613327
Xrefs: GARD:10937 ;   ORDO:228429
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19726876 "DO" "DO"

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