Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
congenital generalized lipodystrophy type 3 (DOID:0111137)
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  
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. (DO)
congenital generalized lipodystrophy type 4  
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 

Synonyms
Exact Synonyms: Berardinelli-Seip Congenital Lipodystrophy, Type 3 ;   Bscl3 ;   Cgl3
Primary IDs: MESH:C567282
Alternate IDs: OMIM:612526 ;   RDO:0015398
Xrefs: ICD10CM:E88.1
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/18237401 "DO"

paths to the root