Congenital generalized lipodystrophy
cv_term_accession
KW-1022
canonical
uniprot_keyword
KW-1022
canonical
name
Congenital generalized lipodystrophy
uniprot
synonym
Berardinelli-Seip syndrome
uniprot
synonym
Congenital generalized lipoatrophy
uniprot
definition
Protein which, if defective, causes congenital generalized lipodystrophy, a disorder characterized by near complete absence of adipose tissue from birth. Affected patients manifest insulin resistance, early onset diabetes mellitus, hypertriglyceridemia, hepatic steatosis and acanthosis nigricans.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords