{
    "disease_id": "DOID:0050566",
    "recommended_name": {
        "id": "DOID:0050566",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050566",
        "name": "X-linked nonsyndromic deafness",
        "description": "A nonsyndromic deafness characterized by an X-linked inheritance mode."
    },
    "synonyms": [
        {
            "id": "DOID:0050566",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050566",
            "name": "X-linked deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010577",
            "name": "hearing loss, X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010577",
            "name": "DFNX1",
            "description": ""
        },
        {
            "id": "MONDO:0010577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010577",
            "name": "deafness, X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010577",
            "name": "deafness, X-linked 2, sensorineural congenital",
            "description": ""
        },
        {
            "id": "MONDO:0010577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010577",
            "name": "deafness, X-linked type 1",
            "description": ""
        },
        {
            "id": "MIM:304500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304500",
            "name": "Deafness, X-linked, 1",
            "description": "Deafness, X-linked, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111735",
            "label": "X-linked deafness 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111737",
            "label": "X-linked deafness 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111738",
            "label": "X-linked deafness 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111739",
            "label": "X-linked deafness 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111740",
            "label": "X-linked deafness 6",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111735",
        "DOID:0111737",
        "DOID:0050566",
        "DOID:0111740",
        "DOID:0111738",
        "DOID:0111739"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050566",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050566",
            "categories": []
        },
        {
            "id": "MONDO:0010577",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010577",
            "categories": []
        },
        {
            "id": "MIM:304500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/304500",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q8R574-1",
            "uniprot_ac": "Q8R574",
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                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Phosphoribosyl pyrophosphate synthase-associated protein 2",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
                    "name": "PAP41",
                    "type": "synonym"
                },
                {
                    "name": "PRPP synthase-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PRPP synthetase-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase-associated protein 2 isoform a",
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                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase-associated protein 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Prpsap2",
                    "type": "recommended"
                },
                {
                    "name": "A230054F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "PAP41",
                    "type": "synonym"
                },
                {
                    "name": "Prpsap2",
                    "type": "synonym"
                }
            ],
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                    "id": "0050566",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050566"
                }
            ]
        },
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                }
            ],
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                    "name": "39 kDa phosphoribosypyrophosphate synthase-associated protein",
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                {
                    "name": "39 kDa phosphoribosypyrophosphate synthetase-associated protein",
                    "type": "synonym"
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                    "name": "PAP39",
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                {
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                    "type": "synonym"
                },
                {
                    "name": "PRPP synthetase-associated protein 1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase-associated protein 1",
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            ],
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                {
                    "name": "Prpsap1",
                    "type": "recommended"
                },
                {
                    "name": "5730409F23Rik",
                    "type": "synonym"
                },
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                    "name": "PAP39",
                    "type": "synonym"
                },
                {
                    "name": "Prpsap1",
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            ],
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                    "id": "0050566",
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        },
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                }
            ],
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                {
                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "PPRibP",
                    "type": "synonym"
                },
                {
                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)",
                    "type": "synonym"
                },
                {
                    "name": "deafness 2, perceptive, congenital",
                    "type": "synonym"
                },
                {
                    "name": "deafness, X-linked 2, perceptive, congenital",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate diphosphokinase 1",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 1",
                    "type": "synonym"
                }
            ],
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                    "name": "PRPS1",
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                {
                    "name": "ARTS",
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                {
                    "name": "CMTX5",
                    "type": "synonym"
                },
                {
                    "name": "DFN2",
                    "type": "synonym"
                },
                {
                    "name": "DFNX1",
                    "type": "synonym"
                },
                {
                    "name": "PPRibP",
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                },
                {
                    "name": "PRPS1",
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                },
                {
                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "PRSI",
                    "type": "synonym"
                }
            ],
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                    "id": "304500",
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                }
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        },
        {
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            "uniprot_ac": "P32895",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "id": "0050566",
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        {
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                    "name": "Rattus norvegicus",
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            "uniprot_canonical_ac": "Q9VA53-1",
            "uniprot_ac": "Q9VA53",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Ribose-phosphate pyrophosphokinase N-terminal domain-containing protein",
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                    "name": "CG2246-PH",
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                    "name": "Dmel\\CG2246",
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            "uniprot_canonical_ac": "Q14558-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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            ],
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                    "name": "41 kDa phosphoribosypyrophosphate synthetase-associated protein",
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                    "id": "0050566",
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050566"
}