congenital leptin deficiency
Information
- Disease name
- congenital leptin deficiency
- Disease ID
- DOID:0111334
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10523015]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MIM:614962
- Cross Reference ID (Disease Ontology)
- ORDO:66628
- Exact Synonym (Disease Ontology)
- LEPD
- Exact Synonym (Disease Ontology)
- leptin deficiency or dysfunction
- Exact Synonym (Disease Ontology)
- obesity due to congenital leptin deficiency