{
    "disease_id": "DOID:0090082",
    "recommended_name": {
        "id": "DOID:0090082",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090082",
        "name": "hypogonadotropic hypogonadism 20 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes."
    },
    "synonyms": [
        {
            "id": "MONDO:0014106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014106",
            "name": "hypogonadotropic hypogonadism 20 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene."
        },
        {
            "id": "MONDO:0014106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014106",
            "name": "FGF17 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0014106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014106",
            "name": "hypogonadotropic hypogonadism 20 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0014106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014106",
            "name": "hypogonadotropic hypogonadism caused by mutation in FGF17",
            "description": ""
        },
        {
            "id": "MONDO:0014106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014106",
            "name": "HH20",
            "description": ""
        },
        {
            "id": "MIM:615270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615270",
            "name": "Hypogonadotropic hypogonadism 20 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 20 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090082"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090082",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090082",
            "categories": []
        },
        {
            "id": "MONDO:0014106",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014106",
            "categories": []
        },
        {
            "id": "MIM:615270",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615270",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6SJP8-1",
            "uniprot_ac": "Q6SJP8",
            "uniprot_id": "FG17_DANRE",
            "refseq_ac": "NP_999973",
            "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 17",
                    "type": "recommended"
                },
                {
                    "name": "FGF-17b",
                    "type": "synonym"
                },
                {
                    "name": "FGF-17",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast growth factor 17b",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 17 b",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 17 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 17b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgf17",
                    "type": "recommended"
                },
                {
                    "name": "fgf17b",
                    "type": "synonym"
                },
                {
                    "name": "fgf17",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-237h13.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101759",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6SJP8-1",
            "evidence": [
                {
                    "id": "0090082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63075-1",
            "uniprot_ac": "P63075",
            "uniprot_id": "FGF17_MOUSE",
            "refseq_ac": "NP_032030",
            "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 17",
                    "type": "recommended"
                },
                {
                    "name": "FGF-17",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 17 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 6b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf17",
                    "type": "recommended"
                },
                {
                    "name": "FGF-17",
                    "type": "synonym"
                },
                {
                    "name": "Fgf17",
                    "type": "synonym"
                },
                {
                    "name": "Fgf6b",
                    "type": "synonym"
                }
            ],
            "record_id": "P63075-1",
            "evidence": [
                {
                    "id": "0090082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60258-1",
            "uniprot_ac": "O60258",
            "uniprot_id": "FGF17_HUMAN",
            "refseq_ac": "NP_001291407",
            "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 17",
                    "type": "recommended"
                },
                {
                    "name": "FGF-17",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 17 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF17",
                    "type": "recommended"
                },
                {
                    "name": "FGF-13",
                    "type": "synonym"
                },
                {
                    "name": "FGF-17",
                    "type": "synonym"
                },
                {
                    "name": "FGF17",
                    "type": "synonym"
                },
                {
                    "name": "HH20",
                    "type": "synonym"
                },
                {
                    "name": "PRO187",
                    "type": "synonym"
                }
            ],
            "record_id": "O60258-1",
            "evidence": [
                {
                    "id": "615270",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615270"
                },
                {
                    "id": "0090082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63076-1",
            "uniprot_ac": "P63076",
            "uniprot_id": "FGF17_RAT",
            "refseq_ac": "NP_062071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 17",
                    "type": "recommended"
                },
                {
                    "name": "FGF-17",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 17 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 6b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf17",
                    "type": "recommended"
                },
                {
                    "name": "Fgf17",
                    "type": "synonym"
                },
                {
                    "name": "Fgf6b",
                    "type": "synonym"
                }
            ],
            "record_id": "P63076-1",
            "evidence": [
                {
                    "id": "0090082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63673-1",
            "uniprot_ac": "Q63673",
            "uniprot_id": "SHH_RAT",
            "refseq_ac": "NP_058917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sonic hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "SHH",
                    "type": "synonym"
                },
                {
                    "name": "Shh N-terminal processed signaling domains",
                    "type": "synonym"
                },
                {
                    "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "ShhNp",
                    "type": "synonym"
                },
                {
                    "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog homolog",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shh",
                    "type": "recommended"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "Shh",
                    "type": "synonym"
                },
                {
                    "name": "Vhh-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63673-1",
            "evidence": [
                {
                    "id": "0090082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090082"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090082"
}