{
    "disease_id": "DOID:0111334",
    "recommended_name": {
        "id": "DOID:0111334",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111334",
        "name": "congenital leptin deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111334",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111334",
            "name": "LEPD",
            "description": ""
        },
        {
            "id": "DOID:0111334",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111334",
            "name": "leptin deficiency or dysfunction",
            "description": ""
        },
        {
            "id": "DOID:0111334",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111334",
            "name": "obesity due to congenital leptin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013991",
            "name": "obesity due to congenital leptin deficiency",
            "description": "Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia."
        },
        {
            "id": "MONDO:0013991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013991",
            "name": "Congenital Leptin Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013991",
            "name": "obesity, morbid, due to leptin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013991",
            "name": "LEPD",
            "description": ""
        },
        {
            "id": "MONDO:0013991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013991",
            "name": "leptin deficiency or dysfunction",
            "description": ""
        },
        {
            "id": "MIM:614962",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614962",
            "name": "Leptin deficiency",
            "description": "Leptin deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111334"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111334",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111334",
            "categories": []
        },
        {
            "id": "MONDO:0013991",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013991",
            "categories": []
        },
        {
            "id": "MIM:614962",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614962",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P41160-1",
            "uniprot_ac": "P41160",
            "uniprot_id": "LEP_MOUSE",
            "refseq_ac": "NP_032519",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leptin",
                    "type": "recommended"
                },
                {
                    "name": "Obesity factor",
                    "type": "synonym"
                },
                {
                    "name": "leptin precursor",
                    "type": "synonym"
                },
                {
                    "name": "obesity factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lep",
                    "type": "recommended"
                },
                {
                    "name": "Lep",
                    "type": "synonym"
                },
                {
                    "name": "Ob",
                    "type": "synonym"
                },
                {
                    "name": "obese",
                    "type": "synonym"
                },
                {
                    "name": "ob",
                    "type": "synonym"
                }
            ],
            "record_id": "P41160-1",
            "evidence": [
                {
                    "id": "0111334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41159-1",
            "uniprot_ac": "P41159",
            "uniprot_id": "LEP_HUMAN",
            "refseq_ac": "NP_000221",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leptin",
                    "type": "recommended"
                },
                {
                    "name": "Obese protein",
                    "type": "synonym"
                },
                {
                    "name": "Obesity factor",
                    "type": "synonym"
                },
                {
                    "name": "leptin (murine obesity homolog)",
                    "type": "synonym"
                },
                {
                    "name": "leptin (obesity homolog, mouse)",
                    "type": "synonym"
                },
                {
                    "name": "leptin precursor",
                    "type": "synonym"
                },
                {
                    "name": "obese protein",
                    "type": "synonym"
                },
                {
                    "name": "obese, mouse, homolog of",
                    "type": "synonym"
                },
                {
                    "name": "obesity factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LEP",
                    "type": "recommended"
                },
                {
                    "name": "LEPD",
                    "type": "synonym"
                },
                {
                    "name": "LEP",
                    "type": "synonym"
                },
                {
                    "name": "OBS",
                    "type": "synonym"
                },
                {
                    "name": "OB",
                    "type": "synonym"
                }
            ],
            "record_id": "P41159-1",
            "evidence": [
                {
                    "id": "614962",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614962"
                },
                {
                    "id": "0111334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50596-1",
            "uniprot_ac": "P50596",
            "uniprot_id": "LEP_RAT",
            "refseq_ac": "NP_037208",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leptin",
                    "type": "recommended"
                },
                {
                    "name": "Obesity factor",
                    "type": "synonym"
                },
                {
                    "name": "leptin precursor",
                    "type": "synonym"
                },
                {
                    "name": "obesity factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lep",
                    "type": "recommended"
                },
                {
                    "name": "Lep",
                    "type": "synonym"
                },
                {
                    "name": "OB",
                    "type": "synonym"
                },
                {
                    "name": "Ob",
                    "type": "synonym"
                },
                {
                    "name": "obese",
                    "type": "synonym"
                }
            ],
            "record_id": "P50596-1",
            "evidence": [
                {
                    "id": "0111334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWX2-1",
            "uniprot_ac": "Q9VWX2",
            "uniprot_id": "Q9VWX2_DROME",
            "refseq_ac": "NP_001356882",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5988-PC",
                    "type": "synonym"
                },
                {
                    "name": "Unpaired 2",
                    "type": "synonym"
                },
                {
                    "name": "Unpaired-2",
                    "type": "synonym"
                },
                {
                    "name": "Unpaired2",
                    "type": "synonym"
                },
                {
                    "name": "unpaired 2",
                    "type": "synonym"
                },
                {
                    "name": "upd homolog",
                    "type": "synonym"
                },
                {
                    "name": "upd2-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "upd2",
                    "type": "recommended"
                },
                {
                    "name": "CG5988",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5988",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5988",
                    "type": "synonym"
                },
                {
                    "name": "Leptin",
                    "type": "synonym"
                },
                {
                    "name": "UPD2",
                    "type": "synonym"
                },
                {
                    "name": "Unpaireds",
                    "type": "synonym"
                },
                {
                    "name": "Upd-2",
                    "type": "synonym"
                },
                {
                    "name": "Upd-like",
                    "type": "synonym"
                },
                {
                    "name": "Upd2/Leptin",
                    "type": "synonym"
                },
                {
                    "name": "Upd2",
                    "type": "synonym"
                },
                {
                    "name": "Upd",
                    "type": "synonym"
                },
                {
                    "name": "cg5988",
                    "type": "synonym"
                },
                {
                    "name": "upd-2",
                    "type": "synonym"
                },
                {
                    "name": "upd2",
                    "type": "synonym"
                },
                {
                    "name": "upd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWX2-1",
            "evidence": [
                {
                    "id": "0111334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWW4-1",
            "uniprot_ac": "Q9VWW4",
            "uniprot_id": "Q9VWW4_DROME",
            "refseq_ac": "NP_001097015",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5993-PB",
                    "type": "synonym"
                },
                {
                    "name": "Unpaired 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Unpaired 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Unpaired 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Unpaired/Out-stretched",
                    "type": "synonym"
                },
                {
                    "name": "outstretched small eye",
                    "type": "synonym"
                },
                {
                    "name": "outstretched-smalleye",
                    "type": "synonym"
                },
                {
                    "name": "outstretched",
                    "type": "synonym"
                },
                {
                    "name": "sisterless c",
                    "type": "synonym"
                },
                {
                    "name": "small-eye",
                    "type": "synonym"
                },
                {
                    "name": "unpaired 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "unpaired 1",
                    "type": "synonym"
                },
                {
                    "name": "unpaired1",
                    "type": "synonym"
                },
                {
                    "name": "upd homolog",
                    "type": "synonym"
                },
                {
                    "name": "upd1-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "upd1",
                    "type": "recommended"
                },
                {
                    "name": "CG5993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5993",
                    "type": "synonym"
                },
                {
                    "name": "OS",
                    "type": "synonym"
                },
                {
                    "name": "Os",
                    "type": "synonym"
                },
                {
                    "name": "UPD1",
                    "type": "synonym"
                },
                {
                    "name": "UPD",
                    "type": "synonym"
                },
                {
                    "name": "Unpaireds",
                    "type": "synonym"
                },
                {
                    "name": "Upd1",
                    "type": "synonym"
                },
                {
                    "name": "Upd",
                    "type": "synonym"
                },
                {
                    "name": "l(1)YC43",
                    "type": "synonym"
                },
                {
                    "name": "l(1)YM55",
                    "type": "synonym"
                },
                {
                    "name": "odsy",
                    "type": "synonym"
                },
                {
                    "name": "od",
                    "type": "synonym"
                },
                {
                    "name": "os",
                    "type": "synonym"
                },
                {
                    "name": "sis-C",
                    "type": "synonym"
                },
                {
                    "name": "sis-c",
                    "type": "synonym"
                },
                {
                    "name": "sisC",
                    "type": "synonym"
                },
                {
                    "name": "sy",
                    "type": "synonym"
                },
                {
                    "name": "unp",
                    "type": "synonym"
                },
                {
                    "name": "upa",
                    "type": "synonym"
                },
                {
                    "name": "upd1",
                    "type": "synonym"
                },
                {
                    "name": "upd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWW4-1",
            "evidence": [
                {
                    "id": "0111334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111334"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111334"
}