{
    "disease_id": "DOID:0090081",
    "recommended_name": {
        "id": "DOID:0090081",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090081",
        "name": "hypogonadotropic hypogonadism 22 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0014461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014461",
            "name": "hypogonadotropic hypogonadism 22 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene."
        },
        {
            "id": "MONDO:0014461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014461",
            "name": "FEZF1 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0014461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014461",
            "name": "hypogonadotropic hypogonadism 22 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0014461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014461",
            "name": "hypogonadotropic hypogonadism 22, with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0014461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014461",
            "name": "hypogonadotropic hypogonadism caused by mutation in FEZF1",
            "description": ""
        },
        {
            "id": "MONDO:0014461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014461",
            "name": "HH22",
            "description": ""
        },
        {
            "id": "MIM:616030",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616030",
            "name": "Hypogonadotropic hypogonadism 22 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 22 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090081"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090081",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090081",
            "categories": []
        },
        {
            "id": "MONDO:0014461",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014461",
            "categories": []
        },
        {
            "id": "MIM:616030",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616030",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q25C93-1",
            "uniprot_ac": "Q25C93",
            "uniprot_id": "FEZF1_DANRE",
            "refseq_ac": "NP_001107820",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fez family zinc finger protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FEZ family zinc finger 2",
                    "type": "synonym"
                },
                {
                    "name": "fez family zinc finger protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fezf1",
                    "type": "recommended"
                },
                {
                    "name": "fezf1",
                    "type": "synonym"
                },
                {
                    "name": "fezf2",
                    "type": "synonym"
                },
                {
                    "name": "fez",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc29c05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc89h05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153730",
                    "type": "synonym"
                }
            ],
            "record_id": "Q25C93-1",
            "evidence": [
                {
                    "id": "0090081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0VDQ9-1",
            "uniprot_ac": "Q0VDQ9",
            "uniprot_id": "FEZF1_MOUSE",
            "refseq_ac": "NP_082738",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fez family zinc finger protein 1",
                    "type": "recommended"
                },
                {
                    "name": "fez family zinc finger protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fezf1",
                    "type": "recommended"
                },
                {
                    "name": "3110069A13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fezf1",
                    "type": "synonym"
                },
                {
                    "name": "Fez",
                    "type": "synonym"
                },
                {
                    "name": "Zfp312-like",
                    "type": "synonym"
                },
                {
                    "name": "fez-like",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VDQ9-1",
            "evidence": [
                {
                    "id": "0090081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0PJY2-1",
            "uniprot_ac": "A0PJY2",
            "uniprot_id": "FEZF1_HUMAN",
            "refseq_ac": "NP_001019784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fez family zinc finger protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein 312B",
                    "type": "synonym"
                },
                {
                    "name": "fez family zinc finger protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "fez family zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 312B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FEZF1",
                    "type": "recommended"
                },
                {
                    "name": "FEZF1",
                    "type": "synonym"
                },
                {
                    "name": "FEZ",
                    "type": "synonym"
                },
                {
                    "name": "HH22",
                    "type": "synonym"
                },
                {
                    "name": "ZNF312B",
                    "type": "synonym"
                }
            ],
            "record_id": "A0PJY2-1",
            "evidence": [
                {
                    "id": "616030",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616030"
                },
                {
                    "id": "0090081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZPD6-1",
            "uniprot_ac": "D3ZPD6",
            "uniprot_id": "D3ZPD6_RAT",
            "refseq_ac": "NP_001102694",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fez family zinc finger 1",
                    "type": "synonym"
                },
                {
                    "name": "fez family zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 312B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fezf1",
                    "type": "recommended"
                },
                {
                    "name": "Fezf1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560480",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZPD6-1",
            "evidence": [
                {
                    "id": "0090081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ56-1",
            "uniprot_ac": "Q9VQ56",
            "uniprot_id": "ERM_DROME",
            "refseq_ac": "NP_608631",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fez family zinc finger protein erm",
                    "type": "recommended"
                },
                {
                    "name": "CG31670-PA",
                    "type": "synonym"
                },
                {
                    "name": "Earmuff",
                    "type": "synonym"
                },
                {
                    "name": "earmuff, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "erm-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "erm",
                    "type": "recommended"
                },
                {
                    "name": "CG31670",
                    "type": "synonym"
                },
                {
                    "name": "CG7312",
                    "type": "synonym"
                },
                {
                    "name": "Dfezf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31670",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31670",
                    "type": "synonym"
                },
                {
                    "name": "Erm",
                    "type": "synonym"
                },
                {
                    "name": "dFezf",
                    "type": "synonym"
                },
                {
                    "name": "dfezl",
                    "type": "synonym"
                },
                {
                    "name": "erm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ56-1",
            "evidence": [
                {
                    "id": "0090081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090081"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090081"
}