{
    "disease_id": "DOID:0090084",
    "recommended_name": {
        "id": "DOID:0090084",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090084",
        "name": "hypogonadotropic hypogonadism 5 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0012880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012880",
            "name": "hypogonadotropic hypogonadism 5 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene."
        },
        {
            "id": "MONDO:0012880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012880",
            "name": "CHD7 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0012880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012880",
            "name": "hypogonadotropic hypogonadism 5 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0012880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012880",
            "name": "hypogonadotropic hypogonadism caused by mutation in CHD7",
            "description": ""
        },
        {
            "id": "MONDO:0012880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012880",
            "name": "KAL5",
            "description": ""
        },
        {
            "id": "MONDO:0012880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012880",
            "name": "HH5",
            "description": ""
        },
        {
            "id": "MONDO:0012880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012880",
            "name": "Kallmann syndrome 5",
            "description": ""
        },
        {
            "id": "MIM:612370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612370",
            "name": "Hypogonadotropic hypogonadism 5 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 5 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090084"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090084",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090084",
            "categories": []
        },
        {
            "id": "MONDO:0012880",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012880",
            "categories": []
        },
        {
            "id": "MIM:612370",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612370",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QGL1-1",
            "uniprot_ac": "F1QGL1",
            "uniprot_id": "F1QGL1_DANRE",
            "refseq_ac": "XP_697956",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromodomain-helicase-DNA-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "chromodomain-helicase-DNA-binding protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chd7",
                    "type": "recommended"
                },
                {
                    "name": "chd7",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGL1-1",
            "evidence": [
                {
                    "id": "0090084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AJK6-1",
            "uniprot_ac": "A2AJK6",
            "uniprot_id": "CHD7_MOUSE",
            "refseq_ac": "NP_001264078",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD7",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase CHD7",
                    "type": "synonym"
                },
                {
                    "name": "CHD-7",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "chromo domain-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chd7",
                    "type": "recommended"
                },
                {
                    "name": "A730019I05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Chd7",
                    "type": "synonym"
                },
                {
                    "name": "Cycn",
                    "type": "synonym"
                },
                {
                    "name": "Cyn",
                    "type": "synonym"
                },
                {
                    "name": "Dz",
                    "type": "synonym"
                },
                {
                    "name": "Edy",
                    "type": "synonym"
                },
                {
                    "name": "Flo",
                    "type": "synonym"
                },
                {
                    "name": "GENA 47",
                    "type": "synonym"
                },
                {
                    "name": "GENA 60",
                    "type": "synonym"
                },
                {
                    "name": "Gena 52",
                    "type": "synonym"
                },
                {
                    "name": "Lda",
                    "type": "synonym"
                },
                {
                    "name": "Mt",
                    "type": "synonym"
                },
                {
                    "name": "Obt",
                    "type": "synonym"
                },
                {
                    "name": "Todo",
                    "type": "synonym"
                },
                {
                    "name": "WBE1",
                    "type": "synonym"
                },
                {
                    "name": "Whi",
                    "type": "synonym"
                },
                {
                    "name": "metis",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AJK6-1",
            "evidence": [
                {
                    "id": "0090084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2D1-1",
            "uniprot_ac": "Q9P2D1",
            "uniprot_id": "CHD7_HUMAN",
            "refseq_ac": "NP_001303619",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD7",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase CHD7",
                    "type": "synonym"
                },
                {
                    "name": "CHARGE association",
                    "type": "synonym"
                },
                {
                    "name": "CHD-7",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "chromo domain-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHD7",
                    "type": "recommended"
                },
                {
                    "name": "CHD7",
                    "type": "synonym"
                },
                {
                    "name": "CRG",
                    "type": "synonym"
                },
                {
                    "name": "HH5",
                    "type": "synonym"
                },
                {
                    "name": "IS3",
                    "type": "synonym"
                },
                {
                    "name": "KAL5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1416",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2D1-1",
            "evidence": [
                {
                    "id": "612370",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612370"
                },
                {
                    "id": "0090084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZAP7-1",
            "uniprot_ac": "D3ZAP7",
            "uniprot_id": "D3ZAP7_RAT",
            "refseq_ac": "NP_001101376",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD7",
                    "type": "recommended"
                },
                {
                    "name": "Chromo domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "chromodomain-helicase-DNA-binding protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chd7",
                    "type": "recommended"
                },
                {
                    "name": "Chd7",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZAP7-1",
            "evidence": [
                {
                    "id": "0090084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z002-1",
            "uniprot_ac": "B7Z002",
            "uniprot_id": "B7Z002_DROME",
            "refseq_ac": "NP_001137761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3696-PC",
                    "type": "synonym"
                },
                {
                    "name": "EP474",
                    "type": "synonym"
                },
                {
                    "name": "Kismet, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Kismet-L",
                    "type": "synonym"
                },
                {
                    "name": "kis-PC",
                    "type": "synonym"
                },
                {
                    "name": "kismet, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "kismet",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k11324",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k16510",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kis",
                    "type": "recommended"
                },
                {
                    "name": "136/31",
                    "type": "synonym"
                },
                {
                    "name": "2532",
                    "type": "synonym"
                },
                {
                    "name": "31",
                    "type": "synonym"
                },
                {
                    "name": "5841",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GM02209",
                    "type": "synonym"
                },
                {
                    "name": "CG18326",
                    "type": "synonym"
                },
                {
                    "name": "CG3660",
                    "type": "synonym"
                },
                {
                    "name": "CG3696",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex20",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3696",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3696",
                    "type": "synonym"
                },
                {
                    "name": "EC2-7",
                    "type": "synonym"
                },
                {
                    "name": "EK2-4",
                    "type": "synonym"
                },
                {
                    "name": "EP(2)0474",
                    "type": "synonym"
                },
                {
                    "name": "EP474",
                    "type": "synonym"
                },
                {
                    "name": "FBtr0078144",
                    "type": "synonym"
                },
                {
                    "name": "GM02209",
                    "type": "synonym"
                },
                {
                    "name": "KIS-L",
                    "type": "synonym"
                },
                {
                    "name": "KIS",
                    "type": "synonym"
                },
                {
                    "name": "Kismet",
                    "type": "synonym"
                },
                {
                    "name": "Kis",
                    "type": "synonym"
                },
                {
                    "name": "Pex20",
                    "type": "synonym"
                },
                {
                    "name": "Su(Pc)21AB",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.164",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0257455.5",
                    "type": "synonym"
                },
                {
                    "name": "kiss",
                    "type": "synonym"
                },
                {
                    "name": "kis",
                    "type": "synonym"
                },
                {
                    "name": "l(2)07812",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08827",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k11324",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k13631",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k14112",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16510",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s3527",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s4771",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s4793",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z002-1",
            "evidence": [
                {
                    "id": "0090084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090084"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090084"
}