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Disease Ontology Browser
congenital leptin deficiency (DOID:0111334)
Alliance: disease page
Synonyms: LEPD; leptin deficiency or dysfunction; obesity due to congenital leptin deficiency
Alt IDs: OMIM:614962, ORDO:66628
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory