{
    "disease_id": "DOID:0090089",
    "recommended_name": {
        "id": "DOID:0090089",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090089",
        "name": "hypogonadotropic hypogonadism 10 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013912",
            "name": "hypogonadotropic hypogonadism 10 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene."
        },
        {
            "id": "MONDO:0013912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013912",
            "name": "TAC3 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0013912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013912",
            "name": "hypogonadotropic hypogonadism 10 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013912",
            "name": "hypogonadotropic hypogonadism caused by mutation in TAC3",
            "description": ""
        },
        {
            "id": "MONDO:0013912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013912",
            "name": "HH10",
            "description": ""
        },
        {
            "id": "MIM:614839",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614839",
            "name": "Hypogonadotropic hypogonadism 10 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 10 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090089"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090089",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090089",
            "categories": []
        },
        {
            "id": "MONDO:0013912",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013912",
            "categories": []
        },
        {
            "id": "MIM:614839",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614839",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P55099-1",
            "uniprot_ac": "P55099",
            "uniprot_id": "TKNK_MOUSE",
            "refseq_ac": "NP_001186900",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tachykinin-3",
                    "type": "recommended"
                },
                {
                    "name": "Neurokinin B-like protein Zneurok1",
                    "type": "synonym"
                },
                {
                    "name": "Neuromedin-K",
                    "type": "synonym"
                },
                {
                    "name": "PPT-B",
                    "type": "synonym"
                },
                {
                    "name": "Preprotachykinin-B",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin 2",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin A",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin B-like protein Zneurok1",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin alpha",
                    "type": "synonym"
                },
                {
                    "name": "neuromedin L",
                    "type": "synonym"
                },
                {
                    "name": "neuropeptide K",
                    "type": "synonym"
                },
                {
                    "name": "preprotachykinin-B",
                    "type": "synonym"
                },
                {
                    "name": "substance K",
                    "type": "synonym"
                },
                {
                    "name": "tachykinin-3 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "tachykinin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tac3",
                    "type": "recommended"
                },
                {
                    "name": "Nknb",
                    "type": "synonym"
                },
                {
                    "name": "PPT-B",
                    "type": "synonym"
                },
                {
                    "name": "Tac2",
                    "type": "synonym"
                },
                {
                    "name": "Tac3",
                    "type": "synonym"
                }
            ],
            "record_id": "P55099-1",
            "evidence": [
                {
                    "id": "0090089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHF0-1",
            "uniprot_ac": "Q9UHF0",
            "uniprot_id": "TKNK_HUMAN",
            "refseq_ac": "NP_001171525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tachykinin-3",
                    "type": "recommended"
                },
                {
                    "name": "LncZBTB39-1:2",
                    "type": "synonym"
                },
                {
                    "name": "Neuromedin-K",
                    "type": "synonym"
                },
                {
                    "name": "ZNEUROK1",
                    "type": "synonym"
                },
                {
                    "name": "gamma tachykinin 3",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin b",
                    "type": "synonym"
                },
                {
                    "name": "neuromedin K",
                    "type": "synonym"
                },
                {
                    "name": "preprotachykinin B",
                    "type": "synonym"
                },
                {
                    "name": "tachykinin-3 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAC3",
                    "type": "recommended"
                },
                {
                    "name": "HH10",
                    "type": "synonym"
                },
                {
                    "name": "LncZBTB39",
                    "type": "synonym"
                },
                {
                    "name": "NK3",
                    "type": "synonym"
                },
                {
                    "name": "NKB",
                    "type": "synonym"
                },
                {
                    "name": "NKNB",
                    "type": "synonym"
                },
                {
                    "name": "PRO1155",
                    "type": "synonym"
                },
                {
                    "name": "TAC3",
                    "type": "synonym"
                },
                {
                    "name": "ZNEUROK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHF0-1",
            "evidence": [
                {
                    "id": "614839",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614839"
                },
                {
                    "id": "0090089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08435-1",
            "uniprot_ac": "P08435",
            "uniprot_id": "TKNK_RAT",
            "refseq_ac": "NP_062035",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tachykinin-3",
                    "type": "recommended"
                },
                {
                    "name": "Neuromedin-K",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin B",
                    "type": "synonym"
                },
                {
                    "name": "tachykinin 2",
                    "type": "synonym"
                },
                {
                    "name": "tachykinin 3",
                    "type": "synonym"
                },
                {
                    "name": "tachykinin-3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tac3",
                    "type": "recommended"
                },
                {
                    "name": "Nknb",
                    "type": "synonym"
                },
                {
                    "name": "Tac2",
                    "type": "synonym"
                },
                {
                    "name": "Tac3",
                    "type": "synonym"
                }
            ],
            "record_id": "P08435-1",
            "evidence": [
                {
                    "id": "0090089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12946-1",
            "uniprot_ac": "Q12946",
            "uniprot_id": "FOXF1_HUMAN",
            "refseq_ac": "NP_001442",
            "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 F1",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-1",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead, drosophila, homolog-like 5",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related activator 1",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL5",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein F1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related activator 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL5",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXF1",
                    "type": "recommended"
                },
                {
                    "name": "ACDMPV",
                    "type": "synonym"
                },
                {
                    "name": "FKHL5",
                    "type": "synonym"
                },
                {
                    "name": "FOXF1",
                    "type": "synonym"
                },
                {
                    "name": "FREAC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12946-1",
            "evidence": [
                {
                    "id": "0090089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090089"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090089"
}
