{
    "disease_id": "DOID:0090074",
    "recommended_name": {
        "id": "DOID:0090074",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090074",
        "name": "hypogonadotropic hypogonadism 8 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes."
    },
    "synonyms": [
        {
            "id": "MONDO:0013910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013910",
            "name": "hypogonadotropic hypogonadism 8 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene."
        },
        {
            "id": "MONDO:0013910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013910",
            "name": "KISS1R hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0013910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013910",
            "name": "hypogonadotropic hypogonadism 8 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013910",
            "name": "hypogonadotropic hypogonadism caused by mutation in KISS1R",
            "description": ""
        },
        {
            "id": "MONDO:0013910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013910",
            "name": "HH8",
            "description": ""
        },
        {
            "id": "MIM:614837",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614837",
            "name": "Hypogonadotropic hypogonadism 8 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 8 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090074"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090074",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090074",
            "categories": []
        },
        {
            "id": "MONDO:0013910",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013910",
            "categories": []
        },
        {
            "id": "MIM:614837",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614837",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91V45-1",
            "uniprot_ac": "Q91V45",
            "uniprot_id": "KISSR_MOUSE",
            "refseq_ac": "NP_444474",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "KiSS-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 54",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor OT7T175",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 54",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor OT7T175",
                    "type": "synonym"
                },
                {
                    "name": "KiSS-1R",
                    "type": "synonym"
                },
                {
                    "name": "Kisspeptins receptor",
                    "type": "synonym"
                },
                {
                    "name": "Metastin receptor",
                    "type": "synonym"
                },
                {
                    "name": "kiSS-1 receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "kiSS-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "kisspeptins receptor",
                    "type": "synonym"
                },
                {
                    "name": "mOT7T175",
                    "type": "synonym"
                },
                {
                    "name": "metastin receptor",
                    "type": "synonym"
                },
                {
                    "name": "orphan G protein-coupled receptor 54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kiss1r",
                    "type": "recommended"
                },
                {
                    "name": "Gpr54",
                    "type": "synonym"
                },
                {
                    "name": "KiSS-1",
                    "type": "synonym"
                },
                {
                    "name": "Kiss1r",
                    "type": "synonym"
                },
                {
                    "name": "kiSS-1R",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91V45-1",
            "evidence": [
                {
                    "id": "0090074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969F8-1",
            "uniprot_ac": "Q969F8",
            "uniprot_id": "KISSR_HUMAN",
            "refseq_ac": "NP_115940",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "KiSS-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 54",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor OT7T175",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor OT7T175",
                    "type": "synonym"
                },
                {
                    "name": "Hypogonadotropin-1",
                    "type": "synonym"
                },
                {
                    "name": "KiSS-1R",
                    "type": "synonym"
                },
                {
                    "name": "Kisspeptins receptor",
                    "type": "synonym"
                },
                {
                    "name": "Metastin receptor",
                    "type": "synonym"
                },
                {
                    "name": "hOT7T175",
                    "type": "synonym"
                },
                {
                    "name": "hypogonadotropin-1",
                    "type": "synonym"
                },
                {
                    "name": "kiSS-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "kisspeptins receptor",
                    "type": "synonym"
                },
                {
                    "name": "metastin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KISS1R",
                    "type": "recommended"
                },
                {
                    "name": "AXOR12",
                    "type": "synonym"
                },
                {
                    "name": "CPPB1",
                    "type": "synonym"
                },
                {
                    "name": "GPR54",
                    "type": "synonym"
                },
                {
                    "name": "HH8",
                    "type": "synonym"
                },
                {
                    "name": "HOT7T175",
                    "type": "synonym"
                },
                {
                    "name": "KISS-1R",
                    "type": "synonym"
                },
                {
                    "name": "KISS1R",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969F8-1",
            "evidence": [
                {
                    "id": "614837",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614837"
                },
                {
                    "id": "0090074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924U1-1",
            "uniprot_ac": "Q924U1",
            "uniprot_id": "KISSR_RAT",
            "refseq_ac": "NP_076482",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KiSS-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 54",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor OT7T175",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor OT7T175",
                    "type": "synonym"
                },
                {
                    "name": "KiSS-1R",
                    "type": "synonym"
                },
                {
                    "name": "Kisspeptins receptor",
                    "type": "synonym"
                },
                {
                    "name": "Metastin receptor",
                    "type": "synonym"
                },
                {
                    "name": "kiSS-1 receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "kiSS-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "kiSS-1R",
                    "type": "synonym"
                },
                {
                    "name": "kisspeptins receptor",
                    "type": "synonym"
                },
                {
                    "name": "metastin receptor",
                    "type": "synonym"
                },
                {
                    "name": "orphan G protein-coupled receptor GPR54",
                    "type": "synonym"
                },
                {
                    "name": "rOT7T175",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kiss1r",
                    "type": "recommended"
                },
                {
                    "name": "Gpr54",
                    "type": "synonym"
                },
                {
                    "name": "Kiss1r",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924U1-1",
            "evidence": [
                {
                    "id": "0090074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090074"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090074"
}