OBO ID: DOID:0111334
Term Name: congenital leptin deficiency Search Ontology:
Synonyms:
  • LEPD
  • leptin deficiency or dysfunction
  • morbid obesity
  • obesity due to congenital leptin deficiency
Definition: A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. https://www.ncbi.nlm.nih.gov/pubmed/10523015
References:
Ontology: Human Disease   (DOID:0111334)
OTHER congenital leptin deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LEP Obesity, morbid, due to leptin deficiency 614962
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None