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Metadata
ID DOID:0111334
Name 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
Xrefs

OMIM:614962

ORDO:66628

Synonyms

LEPD [EXACT]

leptin deficiency or dysfunction [EXACT]

morbid obesity [EXACT]

obesity due to congenital leptin deficiency [EXACT]

Parent Relationships

is_a syndrome

is_a physical disorder

is_a autosomal recessive disease

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