congenital leptin deficiency

Summary

DOID:0111334 - congenital leptin deficiency

Disease Ontology 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.

Synonyms: morbid obesity, LEPD, obesity due to congenital leptin deficiency, leptin deficiency or dysfunction

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lep

MIM:

MIM:614962 - LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD

MIM:614962 - LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), physical disorder (is_a), syndrome (is_a)