{
    "disease_id": "DOID:0090079",
    "recommended_name": {
        "id": "DOID:0090079",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090079",
        "name": "hypogonadotropic hypogonadism 17 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes."
    },
    "synonyms": [
        {
            "id": "MONDO:0014102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014102",
            "name": "hypogonadotropic hypogonadism 17 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene."
        },
        {
            "id": "MONDO:0014102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014102",
            "name": "SPRY4 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0014102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014102",
            "name": "hypogonadotropic hypogonadism 17 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0014102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014102",
            "name": "hypogonadotropic hypogonadism caused by mutation in SPRY4",
            "description": ""
        },
        {
            "id": "MONDO:0014102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014102",
            "name": "HH17",
            "description": ""
        },
        {
            "id": "MIM:615266",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615266",
            "name": "Hypogonadotropic hypogonadism 17 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 17 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090079"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090079",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090079",
            "categories": []
        },
        {
            "id": "MONDO:0014102",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014102",
            "categories": []
        },
        {
            "id": "MIM:615266",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615266",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PQ80-1",
            "uniprot_ac": "A0A8M9PQ80",
            "uniprot_id": "A0A8M9PQ80_DANRE",
            "refseq_ac": "NP_571901",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein sprouty homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "protein sprouty homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spry4",
                    "type": "recommended"
                },
                {
                    "name": "cb511",
                    "type": "synonym"
                },
                {
                    "name": "sprouty4",
                    "type": "synonym"
                },
                {
                    "name": "spry4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb92b06",
                    "type": "synonym"
                },
                {
                    "name": "zSpry4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PQ80-1",
            "evidence": [
                {
                    "id": "0090079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WTP2-1",
            "uniprot_ac": "Q9WTP2",
            "uniprot_id": "SPY4_MOUSE",
            "refseq_ac": "NP_036028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein sprouty homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "Spry-4",
                    "type": "synonym"
                },
                {
                    "name": "protein sprouty homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spry4",
                    "type": "recommended"
                },
                {
                    "name": "A030006O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Spry4",
                    "type": "synonym"
                },
                {
                    "name": "sprouty4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTP2-1",
            "evidence": [
                {
                    "id": "0090079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C004-1",
            "uniprot_ac": "Q9C004",
            "uniprot_id": "SPY4_HUMAN",
            "refseq_ac": "NP_112226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein sprouty homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "Spry-4",
                    "type": "synonym"
                },
                {
                    "name": "protein sprouty homolog 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein sprouty homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPRY4",
                    "type": "recommended"
                },
                {
                    "name": "HH17",
                    "type": "synonym"
                },
                {
                    "name": "SPRY4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C004-1",
            "evidence": [
                {
                    "id": "615266",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615266"
                },
                {
                    "id": "0090079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJA3-1",
            "uniprot_ac": "D3ZJA3",
            "uniprot_id": "D3ZJA3_RAT",
            "refseq_ac": "NP_001099620",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sprouty RTK signaling antagonist 4",
                    "type": "synonym"
                },
                {
                    "name": "protein sprouty homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "sprouty homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spry4",
                    "type": "recommended"
                },
                {
                    "name": "Spry4",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZJA3-1",
            "evidence": [
                {
                    "id": "0090079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O44783-1",
            "uniprot_ac": "O44783",
            "uniprot_id": "SPY_DROME",
            "refseq_ac": "NP_523902",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein sprouty",
                    "type": "recommended"
                },
                {
                    "name": "CG1921-PB",
                    "type": "synonym"
                },
                {
                    "name": "Spry",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin suppressor, chromosome 3, group 3",
                    "type": "synonym"
                },
                {
                    "name": "dSprouty",
                    "type": "synonym"
                },
                {
                    "name": "sprouty, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sprouty",
                    "type": "synonym"
                },
                {
                    "name": "sty-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sty",
                    "type": "recommended"
                },
                {
                    "name": "CG1921",
                    "type": "synonym"
                },
                {
                    "name": "CS3-3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1921",
                    "type": "synonym"
                },
                {
                    "name": "STY",
                    "type": "synonym"
                },
                {
                    "name": "Spry",
                    "type": "synonym"
                },
                {
                    "name": "Sry",
                    "type": "synonym"
                },
                {
                    "name": "Sty",
                    "type": "synonym"
                },
                {
                    "name": "dSPRY",
                    "type": "synonym"
                },
                {
                    "name": "spry",
                    "type": "synonym"
                },
                {
                    "name": "sty",
                    "type": "synonym"
                }
            ],
            "record_id": "O44783-1",
            "evidence": [
                {
                    "id": "0090079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090079"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090079"
}