{
    "disease_id": "DOID:0090073",
    "recommended_name": {
        "id": "DOID:0090073",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090073",
        "name": "hypogonadotropic hypogonadism 13 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0013915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013915",
            "name": "hypogonadotropic hypogonadism 13 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene."
        },
        {
            "id": "MONDO:0013915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013915",
            "name": "KISS1 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0013915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013915",
            "name": "hypogonadotropic hypogonadism 13 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013915",
            "name": "hypogonadotropic hypogonadism caused by mutation in KISS1",
            "description": ""
        },
        {
            "id": "MONDO:0013915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013915",
            "name": "HH13",
            "description": ""
        },
        {
            "id": "MIM:614842",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614842",
            "name": "Hypogonadotropic hypogonadism 13 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 13 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090073"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090073",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090073",
            "categories": []
        },
        {
            "id": "MONDO:0013915",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013915",
            "categories": []
        },
        {
            "id": "MIM:614842",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614842",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6Y4S4-1",
            "uniprot_ac": "Q6Y4S4",
            "uniprot_id": "KISS1_MOUSE",
            "refseq_ac": "NP_839991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metastasis-suppressor KiSS-1",
                    "type": "recommended"
                },
                {
                    "name": "0610012C01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiss1 metastasis-suppressor",
                    "type": "synonym"
                },
                {
                    "name": "Kisspeptin-1",
                    "type": "synonym"
                },
                {
                    "name": "Kisspeptin-52",
                    "type": "synonym"
                },
                {
                    "name": "Metastin45-54",
                    "type": "synonym"
                },
                {
                    "name": "kisspeptin-1",
                    "type": "synonym"
                },
                {
                    "name": "metastasis-suppressor KiSS-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metastasis-suppressor KiSS-1",
                    "type": "synonym"
                },
                {
                    "name": "metastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kiss1",
                    "type": "recommended"
                },
                {
                    "name": "Kiss1",
                    "type": "synonym"
                },
                {
                    "name": "kisspeptin",
                    "type": "synonym"
                },
                {
                    "name": "metastatin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6Y4S4-1",
            "evidence": [
                {
                    "id": "0090073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15726-1",
            "uniprot_ac": "Q15726",
            "uniprot_id": "KISS1_HUMAN",
            "refseq_ac": "NP_002247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metastasis-suppressor KiSS-1",
                    "type": "recommended"
                },
                {
                    "name": "Kisspeptin-1",
                    "type": "synonym"
                },
                {
                    "name": "Kisspeptin-54",
                    "type": "synonym"
                },
                {
                    "name": "kisspeptin-1",
                    "type": "synonym"
                },
                {
                    "name": "malignant melanoma metastasis-suppressor",
                    "type": "synonym"
                },
                {
                    "name": "metastasis-suppressor KiSS-1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "metastasis-suppressor-1",
                    "type": "synonym"
                },
                {
                    "name": "metastin",
                    "type": "synonym"
                },
                {
                    "name": "prepro-kisspeptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KISS1",
                    "type": "recommended"
                },
                {
                    "name": "HH13",
                    "type": "synonym"
                },
                {
                    "name": "KISS1",
                    "type": "synonym"
                },
                {
                    "name": "KiSS-1",
                    "type": "synonym"
                },
                {
                    "name": "PP5098",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15726-1",
            "evidence": [
                {
                    "id": "614842",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614842"
                },
                {
                    "id": "0090073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSB7-1",
            "uniprot_ac": "Q7TSB7",
            "uniprot_id": "KISS1_RAT",
            "refseq_ac": "NP_859043",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metastasis-suppressor KiSS-1",
                    "type": "recommended"
                },
                {
                    "name": "Kiss1 variant E1a-E2b-E3",
                    "type": "synonym"
                },
                {
                    "name": "Kiss1 variant E1b-E2a-E3",
                    "type": "synonym"
                },
                {
                    "name": "Kiss1 variant E1b-E2b-E3",
                    "type": "synonym"
                },
                {
                    "name": "Kisspeptin-1",
                    "type": "synonym"
                },
                {
                    "name": "MLL septin-like fusion",
                    "type": "synonym"
                },
                {
                    "name": "Metastin45-54",
                    "type": "synonym"
                },
                {
                    "name": "kisspeptin-1",
                    "type": "synonym"
                },
                {
                    "name": "metastasis-suppressor KiSS-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metastasis-suppressor KiSS-1",
                    "type": "synonym"
                },
                {
                    "name": "metastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kiss1",
                    "type": "recommended"
                },
                {
                    "name": "Eseptin",
                    "type": "synonym"
                },
                {
                    "name": "Kiss1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSB7-1",
            "evidence": [
                {
                    "id": "0090073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090073"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090073"
}