Term Name: | congenital leptin deficiency |
---|---|
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. |
Ontology: | Human Disease [DOID:0111334] ( DOID:0111334 ) |