ZFIN Human Disease: congenital leptin deficiency

OBO ID: DOID:0111334

Term Name:	congenital leptin deficiency		Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/10523015
References:	OMIM:614962 ORDO:66628
Ontology:	Human Disease ( DOID:0111334 )

Relationships

is a type of:	autosomal recessive disease physical disorder syndrome autosomal recessive disease physical disorder syndrome Show first 5 Terms

OTHER congenital leptin deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LEP	lepb lepa	Obesity, morbid, due to leptin deficiency	614962

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None