Search Ontology:
Human Disease

congenital leptin deficiency

Term ID
DOID:0111334
Synonyms
  • LEPD
  • leptin deficiency or dysfunction
  • 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 )
Relationships
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Genes Involved
Zebrafish Models