Search Ontology:
Human Disease
congenital leptin deficiency
- Term ID
- DOID:0111334
- Synonyms
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- 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
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- MIM:614962
- ORDO:66628
- Ontology
- Human Disease ( DOID:0111334 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models