{
    "disease_id": "DOID:0090090",
    "recommended_name": {
        "id": "DOID:0090090",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090090",
        "name": "hypogonadotropic hypogonadism 19 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes."
    },
    "synonyms": [
        {
            "id": "MONDO:0014105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014105",
            "name": "hypogonadotropic hypogonadism 19 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene."
        },
        {
            "id": "MONDO:0014105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014105",
            "name": "DUSP6 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0014105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014105",
            "name": "hypogonadotropic hypogonadism 19 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0014105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014105",
            "name": "hypogonadotropic hypogonadism caused by mutation in DUSP6",
            "description": ""
        },
        {
            "id": "MONDO:0014105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014105",
            "name": "HH19",
            "description": ""
        },
        {
            "id": "MIM:615269",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615269",
            "name": "Hypogonadotropic hypogonadism 19 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 19 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090090"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090090",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090090",
            "categories": []
        },
        {
            "id": "MONDO:0014105",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014105",
            "categories": []
        },
        {
            "id": "MIM:615269",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615269",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DBB1-1",
            "uniprot_ac": "Q9DBB1",
            "uniprot_id": "DUS6_MOUSE",
            "refseq_ac": "NP_080544",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity protein phosphatase 6",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "MKP-3",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity protein phosphatase 6",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dusp6",
                    "type": "recommended"
                },
                {
                    "name": "1300019I03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dusp6",
                    "type": "synonym"
                },
                {
                    "name": "MKP-3",
                    "type": "synonym"
                },
                {
                    "name": "MKP3",
                    "type": "synonym"
                },
                {
                    "name": "Mkp3",
                    "type": "synonym"
                },
                {
                    "name": "PYST1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBB1-1",
            "evidence": [
                {
                    "id": "0090090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16828-1",
            "uniprot_ac": "Q16828",
            "uniprot_id": "DUS6_HUMAN",
            "refseq_ac": "NP_001937",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity protein phosphatase 6",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Dual specificity protein phosphatase PYST1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "MKP-3",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity protein phosphatase 6 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity protein phosphatase PYST1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine specific protein phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DUSP6",
                    "type": "recommended"
                },
                {
                    "name": "DUSP6",
                    "type": "synonym"
                },
                {
                    "name": "HH19",
                    "type": "synonym"
                },
                {
                    "name": "MKP3",
                    "type": "synonym"
                },
                {
                    "name": "PYST1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16828-1",
            "evidence": [
                {
                    "id": "615269",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615269"
                },
                {
                    "id": "0090090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64346-1",
            "uniprot_ac": "Q64346",
            "uniprot_id": "DUS6_RAT",
            "refseq_ac": "NP_446335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity protein phosphatase 6",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "MKP-3",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity protein phosphatase 6",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dusp6",
                    "type": "recommended"
                },
                {
                    "name": "Dusp6",
                    "type": "synonym"
                },
                {
                    "name": "Mkp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64346-1",
            "evidence": [
                {
                    "id": "0090090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88989-1",
            "uniprot_ac": "O88989",
            "uniprot_id": "MDHC_RAT",
            "refseq_ac": "NP_150238",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "Aromatic alpha-keto acid reductase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "KAR",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase-like enzyme",
                    "type": "synonym"
                },
                {
                    "name": "aromatic alpha-keto acid reductase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1, NAD (soluble)",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, cytoplasmic isoform Mdh1",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, soluble",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh1",
                    "type": "recommended"
                },
                {
                    "name": "KAR",
                    "type": "synonym"
                },
                {
                    "name": "MDL1",
                    "type": "synonym"
                },
                {
                    "name": "Mdh1",
                    "type": "synonym"
                },
                {
                    "name": "Mdhl",
                    "type": "synonym"
                },
                {
                    "name": "Mdh",
                    "type": "synonym"
                },
                {
                    "name": "Mor2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88989-1",
            "evidence": [
                {
                    "id": "0090090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVW5-1",
            "uniprot_ac": "Q9VVW5",
            "uniprot_id": "DUSK3_DROME",
            "refseq_ac": "NP_001262032",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity protein phosphatase Mpk3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "CG14080-PD",
                    "type": "synonym"
                },
                {
                    "name": "DMKP3",
                    "type": "synonym"
                },
                {
                    "name": "Drosophila MKP3",
                    "type": "synonym"
                },
                {
                    "name": "ERK-inhibitory phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPK phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPK phosphatase-3",
                    "type": "synonym"
                },
                {
                    "name": "MKP-3-like",
                    "type": "synonym"
                },
                {
                    "name": "MKP-3",
                    "type": "synonym"
                },
                {
                    "name": "MKP-like",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase phosphatase 3, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "Mkp3-PD",
                    "type": "synonym"
                },
                {
                    "name": "drosophila MKP-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mkp3",
                    "type": "recommended"
                },
                {
                    "name": "CG14080",
                    "type": "synonym"
                },
                {
                    "name": "CG14081",
                    "type": "synonym"
                },
                {
                    "name": "DMKP-3",
                    "type": "synonym"
                },
                {
                    "name": "DMKP3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14080",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14080",
                    "type": "synonym"
                },
                {
                    "name": "Dmkp3",
                    "type": "synonym"
                },
                {
                    "name": "MKP3",
                    "type": "synonym"
                },
                {
                    "name": "Mkp3",
                    "type": "synonym"
                },
                {
                    "name": "dMKP3",
                    "type": "synonym"
                },
                {
                    "name": "mkp-3",
                    "type": "synonym"
                },
                {
                    "name": "mkp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVW5-1",
            "evidence": [
                {
                    "id": "0090090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090090"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090090"
}