Search Ontology:
Human Disease

congenital generalized lipodystrophy type 1

Term ID
DOID:0111135
Synonyms
  • Berardinelli-Seip Congenital Lipodystrophy, Type 1
  • Brunzell syndrome AGPAT2-related
Definition
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. https://www.ncbi.nlm.nih.gov/pubmed/11967537
References
Ontology
Human Disease   ( DOID:0111135 )
Relationships
is a type of
disjoint_from
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.