| Metadata | |
|---|---|
| ID | DOID:0111334 |
| Name | 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LEPD [EXACT] leptin deficiency or dysfunction [EXACT] obesity due to congenital leptin deficiency [EXACT] |
| Parent Relationships |
is_a syndrome is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |