{
    "disease_id": "DOID:0090071",
    "recommended_name": {
        "id": "DOID:0090071",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090071",
        "name": "hypogonadotropic hypogonadism 11 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013913",
            "name": "hypogonadotropic hypogonadism 11 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene."
        },
        {
            "id": "MONDO:0013913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013913",
            "name": "TACR3 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0013913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013913",
            "name": "hypogonadotropic hypogonadism 11 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013913",
            "name": "hypogonadotropic hypogonadism caused by mutation in TACR3",
            "description": ""
        },
        {
            "id": "MONDO:0013913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013913",
            "name": "HH11",
            "description": ""
        },
        {
            "id": "MIM:614840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614840",
            "name": "Hypogonadotropic hypogonadism 11 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 11 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090071"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090071",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090071",
            "categories": []
        },
        {
            "id": "MONDO:0013913",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013913",
            "categories": []
        },
        {
            "id": "MIM:614840",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614840",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P47937-1",
            "uniprot_ac": "P47937",
            "uniprot_id": "NK3R_MOUSE",
            "refseq_ac": "NP_067357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuromedin-K receptor",
                    "type": "recommended"
                },
                {
                    "name": "NK-3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "NK-3R",
                    "type": "synonym"
                },
                {
                    "name": "NKR",
                    "type": "synonym"
                },
                {
                    "name": "Neurokinin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nk3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Tachykinin receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin 3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "neuromedin K receptor",
                    "type": "synonym"
                },
                {
                    "name": "neuromedin-K receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tacr3",
                    "type": "recommended"
                },
                {
                    "name": "Nk3r",
                    "type": "synonym"
                },
                {
                    "name": "Nkr",
                    "type": "synonym"
                },
                {
                    "name": "Tac3r",
                    "type": "synonym"
                },
                {
                    "name": "Tacr3",
                    "type": "synonym"
                }
            ],
            "record_id": "P47937-1",
            "evidence": [
                {
                    "id": "0090071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29371-1",
            "uniprot_ac": "P29371",
            "uniprot_id": "NK3R_HUMAN",
            "refseq_ac": "NP_001050",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuromedin-K receptor",
                    "type": "recommended"
                },
                {
                    "name": "NK-3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "NK-3R",
                    "type": "synonym"
                },
                {
                    "name": "NK3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "NKR",
                    "type": "synonym"
                },
                {
                    "name": "Neurokinin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Tachykinin receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin beta receptor",
                    "type": "synonym"
                },
                {
                    "name": "neuromedin-K receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TACR3",
                    "type": "recommended"
                },
                {
                    "name": "HH11",
                    "type": "synonym"
                },
                {
                    "name": "NK-3R",
                    "type": "synonym"
                },
                {
                    "name": "NK3R",
                    "type": "synonym"
                },
                {
                    "name": "NK3",
                    "type": "synonym"
                },
                {
                    "name": "NKR",
                    "type": "synonym"
                },
                {
                    "name": "TAC3RL",
                    "type": "synonym"
                },
                {
                    "name": "TAC3R",
                    "type": "synonym"
                },
                {
                    "name": "TACR3",
                    "type": "synonym"
                }
            ],
            "record_id": "P29371-1",
            "evidence": [
                {
                    "id": "614840",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614840"
                },
                {
                    "id": "0090071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16177-1",
            "uniprot_ac": "P16177",
            "uniprot_id": "NK3R_RAT",
            "refseq_ac": "NP_058749",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuromedin-K receptor",
                    "type": "recommended"
                },
                {
                    "name": "NK-3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "NK-3R",
                    "type": "synonym"
                },
                {
                    "name": "NKR",
                    "type": "synonym"
                },
                {
                    "name": "Neurokinin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Neuromedin K receptor (Neurokinin B/Tachikin 3)",
                    "type": "synonym"
                },
                {
                    "name": "Tachykinin receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "neuromedin-K receptor",
                    "type": "synonym"
                },
                {
                    "name": "tachikin receptor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tacr3",
                    "type": "recommended"
                },
                {
                    "name": "Nkr",
                    "type": "synonym"
                },
                {
                    "name": "Nmkr",
                    "type": "synonym"
                },
                {
                    "name": "Tac3r",
                    "type": "synonym"
                },
                {
                    "name": "Tacr3",
                    "type": "synonym"
                }
            ],
            "record_id": "P16177-1",
            "evidence": [
                {
                    "id": "0090071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30975-1",
            "uniprot_ac": "P30975",
            "uniprot_id": "TLR2_DROME",
            "refseq_ac": "NP_524556",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tachykinin-like peptides receptor 99D",
                    "type": "recommended"
                },
                {
                    "name": "CG7887-PA",
                    "type": "synonym"
                },
                {
                    "name": "DTK receptor",
                    "type": "synonym"
                },
                {
                    "name": "Tachykinin-like receptor at 99D, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Tachykinin-like receptor at 99D",
                    "type": "synonym"
                },
                {
                    "name": "TkR99D-PA",
                    "type": "synonym"
                },
                {
                    "name": "dTKR",
                    "type": "synonym"
                },
                {
                    "name": "drosophila tachykinin receptor",
                    "type": "synonym"
                },
                {
                    "name": "tachykinin receptor",
                    "type": "synonym"
                },
                {
                    "name": "tachykinin-like receptor at 99D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TkR99D",
                    "type": "recommended"
                },
                {
                    "name": "CG7887",
                    "type": "synonym"
                },
                {
                    "name": "DTKR",
                    "type": "synonym"
                },
                {
                    "name": "DmTRPR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7887",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7887",
                    "type": "synonym"
                },
                {
                    "name": "Dtkr",
                    "type": "synonym"
                },
                {
                    "name": "TAKR99D",
                    "type": "synonym"
                },
                {
                    "name": "TAKR",
                    "type": "synonym"
                },
                {
                    "name": "TKR99D",
                    "type": "synonym"
                },
                {
                    "name": "TLR2_DROME",
                    "type": "synonym"
                },
                {
                    "name": "Tak-r",
                    "type": "synonym"
                },
                {
                    "name": "TakR99D",
                    "type": "synonym"
                },
                {
                    "name": "Takr99D",
                    "type": "synonym"
                },
                {
                    "name": "Tk-R 99D",
                    "type": "synonym"
                },
                {
                    "name": "TkR99D",
                    "type": "synonym"
                },
                {
                    "name": "Tkr99D",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0131005.11",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0131005.9",
                    "type": "synonym"
                },
                {
                    "name": "dtkr",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s2222",
                    "type": "synonym"
                }
            ],
            "record_id": "P30975-1",
            "evidence": [
                {
                    "id": "0090071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12947-1",
            "uniprot_ac": "Q12947",
            "uniprot_id": "FOXF2_HUMAN",
            "refseq_ac": "NP_001443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein F2",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-2",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related activator 2",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL6",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein F2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 6",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related activator 2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL6",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXF2",
                    "type": "recommended"
                },
                {
                    "name": "FKHL6",
                    "type": "synonym"
                },
                {
                    "name": "FOXF2",
                    "type": "synonym"
                },
                {
                    "name": "FREAC-2",
                    "type": "synonym"
                },
                {
                    "name": "FREAC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12947-1",
            "evidence": [
                {
                    "id": "0090071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090071"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090071"
}