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General Information
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| Term |
congenital leptin deficiency |
ID (Ontology) |
DOID:0111334 (Human Disease) |
| 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. |
| Also Known As |
"LEPD" ; "leptin deficiency or dysfunction" ; "obesity due to congenital leptin deficiency" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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congenital leptin deficiency | 2 | 2 | 1 | model of | congenital leptin deficiency | 2 | -- | -- |
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Relationships