{
    "disease_id": "DOID:0090086",
    "recommended_name": {
        "id": "DOID:0090086",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090086",
        "name": "hypogonadotropic hypogonadism 6 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012988",
            "name": "hypogonadotropic hypogonadism 6 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene."
        },
        {
            "id": "MONDO:0012988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012988",
            "name": "FGF8 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0012988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012988",
            "name": "hypogonadotropic hypogonadism 6 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0012988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012988",
            "name": "hypogonadotropic hypogonadism caused by mutation in FGF8",
            "description": ""
        },
        {
            "id": "MONDO:0012988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012988",
            "name": "KAL6",
            "description": ""
        },
        {
            "id": "MONDO:0012988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012988",
            "name": "HH6",
            "description": ""
        },
        {
            "id": "MONDO:0012988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012988",
            "name": "Kallmann syndrome 6",
            "description": ""
        },
        {
            "id": "MIM:612702",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612702",
            "name": "Hypogonadotropic hypogonadism 6 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 6 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090086"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090086",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090086",
            "categories": []
        },
        {
            "id": "MONDO:0012988",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012988",
            "categories": []
        },
        {
            "id": "MIM:612702",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612702",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O57341-1",
            "uniprot_ac": "O57341",
            "uniprot_id": "FGF8A_DANRE",
            "refseq_ac": "NP_571356",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 8",
                    "type": "recommended"
                },
                {
                    "name": "FGF-8",
                    "type": "synonym"
                },
                {
                    "name": "acerebellar",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8 a",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgf8a",
                    "type": "recommended"
                },
                {
                    "name": "ace",
                    "type": "synonym"
                },
                {
                    "name": "cb110",
                    "type": "synonym"
                },
                {
                    "name": "etID309886.13",
                    "type": "synonym"
                },
                {
                    "name": "fgf-8",
                    "type": "synonym"
                },
                {
                    "name": "fgf8a",
                    "type": "synonym"
                },
                {
                    "name": "fgf8",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5031",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73a06",
                    "type": "synonym"
                }
            ],
            "record_id": "O57341-1",
            "evidence": [
                {
                    "id": "0090086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q805B2-1",
            "uniprot_ac": "Q805B2",
            "uniprot_id": "FGF8B_DANRE",
            "refseq_ac": "NP_878276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 8b",
                    "type": "recommended"
                },
                {
                    "name": "FGF-17a",
                    "type": "synonym"
                },
                {
                    "name": "FGF-8b",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast growth factor 17a",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 17 a",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 17a",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8 b",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgf8b",
                    "type": "recommended"
                },
                {
                    "name": "fgf17a",
                    "type": "synonym"
                },
                {
                    "name": "fgf17",
                    "type": "synonym"
                },
                {
                    "name": "fgf8b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q805B2-1",
            "evidence": [
                {
                    "id": "0090086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37237-1",
            "uniprot_ac": "P37237",
            "uniprot_id": "FGF8_MOUSE",
            "refseq_ac": "NP_001159834",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 8",
                    "type": "recommended"
                },
                {
                    "name": "AIGF",
                    "type": "synonym"
                },
                {
                    "name": "Androgen-induced growth factor",
                    "type": "synonym"
                },
                {
                    "name": "FGF-8",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-8",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 8",
                    "type": "synonym"
                },
                {
                    "name": "androgen-induced growth factor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 6c",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf8",
                    "type": "recommended"
                },
                {
                    "name": "Aigf",
                    "type": "synonym"
                },
                {
                    "name": "Fgf-8",
                    "type": "synonym"
                },
                {
                    "name": "Fgf6c",
                    "type": "synonym"
                },
                {
                    "name": "Fgf8",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-8",
                    "type": "synonym"
                }
            ],
            "record_id": "P37237-1",
            "evidence": [
                {
                    "id": "0090086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55075-1",
            "uniprot_ac": "P55075",
            "uniprot_id": "FGF8_HUMAN",
            "refseq_ac": "NP_006110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 8",
                    "type": "recommended"
                },
                {
                    "name": "AIGF",
                    "type": "synonym"
                },
                {
                    "name": "Androgen-induced growth factor",
                    "type": "synonym"
                },
                {
                    "name": "FGF-8",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-8",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 8",
                    "type": "synonym"
                },
                {
                    "name": "androgen-induced growth factor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8 (androgen-induced)",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8 isoform B precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF8",
                    "type": "recommended"
                },
                {
                    "name": "AIGF",
                    "type": "synonym"
                },
                {
                    "name": "FGF-8",
                    "type": "synonym"
                },
                {
                    "name": "FGF8",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-8",
                    "type": "synonym"
                },
                {
                    "name": "HH6",
                    "type": "synonym"
                },
                {
                    "name": "KAL6",
                    "type": "synonym"
                }
            ],
            "record_id": "P55075-1",
            "evidence": [
                {
                    "id": "612702",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612702"
                },
                {
                    "id": "0090086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZL19-1",
            "uniprot_ac": "A0A8I5ZL19",
            "uniprot_id": "A0A8I5ZL19_RAT",
            "refseq_ac": "XP_038963238",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor",
                    "type": "recommended"
                },
                {
                    "name": "FGF",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf8",
                    "type": "recommended"
                },
                {
                    "name": "Fgf6c",
                    "type": "synonym"
                },
                {
                    "name": "Fgf8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZL19-1",
            "evidence": [
                {
                    "id": "0090086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55018-1",
            "uniprot_ac": "P55018",
            "uniprot_id": "S12A3_RAT",
            "refseq_ac": "NP_062218",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 3",
                    "type": "recommended"
                },
                {
                    "name": "Na-Cl symporter",
                    "type": "synonym"
                },
                {
                    "name": "Thiazide-sensitive sodium-chloride cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (sodium/chloride transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (sodium/chloride transporters), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 3",
                    "type": "synonym"
                },
                {
                    "name": "thiazide-sensitive Na-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "thiazide-sensitive sodium-chloride cotransporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc12a3",
                    "type": "recommended"
                },
                {
                    "name": "NCC",
                    "type": "synonym"
                },
                {
                    "name": "Slc12a3",
                    "type": "synonym"
                },
                {
                    "name": "TSC",
                    "type": "synonym"
                },
                {
                    "name": "Tsc",
                    "type": "synonym"
                }
            ],
            "record_id": "P55018-1",
            "evidence": [
                {
                    "id": "0090086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090086"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090086"
}