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congenital leptin deficiency
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease physical disorder syndrome
External Links
- Disease Ontology
- DOID:0111334
- Mondo Disease Ontology
- ORDO
- OMIM
