{
    "disease_id": "DOID:0090075",
    "recommended_name": {
        "id": "DOID:0090075",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090075",
        "name": "hypogonadotropic hypogonadism 15 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes."
    },
    "synonyms": [
        {
            "id": "MONDO:0013946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013946",
            "name": "hypogonadotropic hypogonadism 15 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene."
        },
        {
            "id": "MONDO:0013946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013946",
            "name": "HS6ST1 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0013946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013946",
            "name": "hypogonadotropic hypogonadism 15 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013946",
            "name": "hypogonadotropic hypogonadism caused by mutation in HS6ST1",
            "description": ""
        },
        {
            "id": "MONDO:0013946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013946",
            "name": "HH15",
            "description": ""
        },
        {
            "id": "MIM:614880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614880",
            "name": "Hypogonadotropic hypogonadism 15 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 15 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090075"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090075",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090075",
            "categories": []
        },
        {
            "id": "MONDO:0013946",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013946",
            "categories": []
        },
        {
            "id": "MIM:614880",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614880",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q56UJ5-1",
            "uniprot_ac": "Q56UJ5",
            "uniprot_id": "H6S1A_DANRE",
            "refseq_ac": "NP_001417892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase 1-A",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "HS 6-OST-1A",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST-1",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate 6-O-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-O-sulfotransferase 1-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hs6st1a",
                    "type": "recommended"
                },
                {
                    "name": "6-ost-1a",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST-1",
                    "type": "synonym"
                },
                {
                    "name": "hs6st1a",
                    "type": "synonym"
                },
                {
                    "name": "hs6st1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110038",
                    "type": "synonym"
                }
            ],
            "record_id": "Q56UJ5-1",
            "evidence": [
                {
                    "id": "0090075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0MGZ5-1",
            "uniprot_ac": "A0MGZ5",
            "uniprot_id": "H6S1B_DANRE",
            "refseq_ac": "NP_001073672",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase 1-B",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "6-ost-1b",
                    "type": "synonym"
                },
                {
                    "name": "HS 6-OST-1B",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-O-sulfotransferase 1-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hs6st1b",
                    "type": "recommended"
                },
                {
                    "name": "hs6st1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0MGZ5-1",
            "evidence": [
                {
                    "id": "0090075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYK5-1",
            "uniprot_ac": "Q9QYK5",
            "uniprot_id": "H6ST1_MOUSE",
            "refseq_ac": "NP_056633",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST-1",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-O-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "mHS6ST-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hs6st1",
                    "type": "recommended"
                },
                {
                    "name": "6Ost1",
                    "type": "synonym"
                },
                {
                    "name": "Hs6st1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYK5-1",
            "evidence": [
                {
                    "id": "0090075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60243-1",
            "uniprot_ac": "O60243",
            "uniprot_id": "H6ST1_HUMAN",
            "refseq_ac": "NP_004798",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST-1",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-O-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-sulfotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HS6ST1",
                    "type": "recommended"
                },
                {
                    "name": "HH15",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST1",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST",
                    "type": "synonym"
                }
            ],
            "record_id": "O60243-1",
            "evidence": [
                {
                    "id": "614880",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614880"
                },
                {
                    "id": "0090075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A6E6-1",
            "uniprot_ac": "D4A6E6",
            "uniprot_id": "D4A6E6_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hs6st1",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A6E6-1",
            "evidence": [
                {
                    "id": "0090075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDR6-1",
            "uniprot_ac": "Q9VDR6",
            "uniprot_id": "Q9VDR6_DROME",
            "refseq_ac": "NP_001262750",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "6-O sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG4451-PB",
                    "type": "synonym"
                },
                {
                    "name": "HS 6-O-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Hs6st-PB",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate 6-O-sulfotransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate 6-O-sulfotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hs6st",
                    "type": "recommended"
                },
                {
                    "name": "CG11683",
                    "type": "synonym"
                },
                {
                    "name": "CG17188",
                    "type": "synonym"
                },
                {
                    "name": "CG18533",
                    "type": "synonym"
                },
                {
                    "name": "CG4451",
                    "type": "synonym"
                },
                {
                    "name": "DmHs6st",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4451",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4451",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST",
                    "type": "synonym"
                },
                {
                    "name": "Hs6st",
                    "type": "synonym"
                },
                {
                    "name": "dHS6ST",
                    "type": "synonym"
                },
                {
                    "name": "hs6st",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDR6-1",
            "evidence": [
                {
                    "id": "0090075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090075"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090075"
}
