Congenital Leptin Deficiency
Disease ID: disease_node_20248
Connections displayed (default: 10).
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| Dbxref | MIM:614962, ORDO:66628 |
|---|---|
| Subclassof | DOID_0080015, DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LEPD, leptin deficiency or dysfunction, obesity due to congenital leptin deficiency |
| Doid Label | congenital leptin deficiency |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20248 |
| Doid Id | DOID_0111334 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Leptin Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)