{
    "disease_id": "DOID:0050647",
    "recommended_name": {
        "id": "DOID:0050647",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050647",
        "name": "Arts syndrome",
        "description": "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050647",
            "name": "fatal X-linked ataxia with deafness and loss of vision",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050647",
            "name": "ARTS",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050647",
            "name": "Lethal ataxia with deafness and optic atrophy",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050647",
            "name": "MRXS18",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050647",
            "name": "MRXSARTS",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050647",
            "name": "syndromic X-linked mental retardation 18",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050647",
            "name": "syndromic X-linked mental retardation Arts type",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "Arts syndrome",
            "description": "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy."
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "ARTS",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "Arts",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "Arts syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "Arts syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "MRXS18",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "MRXSARTS",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "lethal ataxia with deafness and optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "syndromic X-linked intellectual disability 18",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "syndromic X-linked intellectual disability Arts type",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "X-linked fatal ataxia with deafness and loss of vision",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "lethal ataxia-deafness-optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "mental retardation, X-linked, syndromic 18",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "mental retardation, X-linked, syndromic, Arts type",
            "description": ""
        },
        {
            "id": "MIM:301835",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301835",
            "name": "ARTS syndrome",
            "description": "ARTS syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050647"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050647",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050647",
            "categories": []
        },
        {
            "id": "MONDO:0010533",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "categories": []
        },
        {
            "id": "MIM:301835",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301835",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q9W5Z2",
            "uniprot_id": "PITX2_DANRE",
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            "glycoprotein": "yes",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Pituitary homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor 2a",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "pitx2b",
                    "type": "synonym"
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            ],
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                    "name": "pitx2",
                    "type": "recommended"
                },
                {
                    "name": "pitx2a",
                    "type": "synonym"
                },
                {
                    "name": "pitx2b",
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                {
                    "name": "pitx2c",
                    "type": "synonym"
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                {
                    "name": "pitx2",
                    "type": "synonym"
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                {
                    "name": "zgc:110508",
                    "type": "synonym"
                }
            ],
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                    "id": "0050647",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050647"
                }
            ]
        },
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            "uniprot_ac": "P97474",
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                    "common_name": "Mouse",
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                }
            ],
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                {
                    "name": "Pituitary homeobox 2",
                    "type": "recommended"
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                {
                    "name": "ALL1-responsive protein ARP1",
                    "type": "synonym"
                },
                {
                    "name": "BRX1 homeoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Bicoid-related homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein PITX2",
                    "type": "synonym"
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                {
                    "name": "Orthodenticle-like homeobox 2",
                    "type": "synonym"
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                {
                    "name": "Paired-like homeodomain transcription factor 2",
                    "type": "synonym"
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                {
                    "name": "Solurshin",
                    "type": "synonym"
                },
                {
                    "name": "bicoid-related homeobox protein 1",
                    "type": "synonym"
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                {
                    "name": "orthodenticle-like homeobox 2",
                    "type": "synonym"
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                {
                    "name": "paired-like homeodomain transcription factor Munc 30",
                    "type": "synonym"
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                {
                    "name": "pituitary homeobox 2 isoform c",
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                {
                    "name": "pituitary homeobox 2",
                    "type": "synonym"
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                {
                    "name": "solurshin",
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            ],
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                    "name": "Pitx2",
                    "type": "recommended"
                },
                {
                    "name": "9430085M16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arp1",
                    "type": "synonym"
                },
                {
                    "name": "Brx1b",
                    "type": "synonym"
                },
                {
                    "name": "Brx1",
                    "type": "synonym"
                },
                {
                    "name": "Munc30",
                    "type": "synonym"
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                {
                    "name": "Otlx2",
                    "type": "synonym"
                },
                {
                    "name": "Pitx2",
                    "type": "synonym"
                },
                {
                    "name": "Ptx2",
                    "type": "synonym"
                },
                {
                    "name": "Rgs",
                    "type": "synonym"
                },
                {
                    "name": "Rieg",
                    "type": "synonym"
                }
            ],
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                    "id": "0050647",
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            "uniprot_ac": "G3UXL2",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Prps1l3",
                    "type": "recommended"
                },
                {
                    "name": "328099",
                    "type": "synonym"
                },
                {
                    "name": "AU021838",
                    "type": "synonym"
                },
                {
                    "name": "AW536152",
                    "type": "synonym"
                },
                {
                    "name": "Gm5081",
                    "type": "synonym"
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                {
                    "name": "Prps1l3",
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                    "id": "0050647",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
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                    "name": "2.7.6.1",
                    "type": "synonym"
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                    "type": "synonym"
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                {
                    "name": "Phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthetase I",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 1",
                    "type": "synonym"
                }
            ],
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                    "name": "Prps1",
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                {
                    "name": "2310010D17Rik",
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                },
                {
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                    "id": "0050647",
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            "uniprot_ac": "Q8R574",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Phosphoribosyl pyrophosphate synthase-associated protein 2",
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                },
                {
                    "name": "41 kDa phosphoribosypyrophosphate synthetase-associated protein",
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                },
                {
                    "name": "PAP41",
                    "type": "synonym"
                },
                {
                    "name": "PRPP synthase-associated protein 2",
                    "type": "synonym"
                },
                {
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                    "name": "phosphoribosyl pyrophosphate synthase-associated protein 2",
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                    "name": "Prpsap2",
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                    "name": "A230054F23Rik",
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                },
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                    "id": "0050647",
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "39 kDa phosphoribosypyrophosphate synthetase-associated protein",
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                {
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                {
                    "name": "PRPP synthase-associated protein 1",
                    "type": "synonym"
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                {
                    "name": "PRPP synthetase-associated protein 1",
                    "type": "synonym"
                },
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                {
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                    "name": "Prpsap1",
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                    "name": "Homo sapiens",
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            ],
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                    "type": "synonym"
                },
                {
                    "name": "dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)",
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                },
                {
                    "name": "deafness 2, perceptive, congenital",
                    "type": "synonym"
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                {
                    "name": "deafness, X-linked 2, perceptive, congenital",
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                {
                    "name": "phosphoribosyl pyrophosphate synthase I",
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                    "name": "ribose-phosphate diphosphokinase 1",
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                {
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                {
                    "name": "ribose-phosphate pyrophosphokinase 1",
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                    "name": "PRPS1",
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                    "name": "ARTS",
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                    "name": "CMTX5",
                    "type": "synonym"
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                {
                    "name": "DFN2",
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                    "name": "DFNX1",
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                    "name": "PPRibP",
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                    "name": "PRPS1",
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                    "id": "0050647",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050647"
                }
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            "uniprot_ac": "P32895",
            "uniprot_id": "KPR1_YEAST",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
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                    "name": "Ribose-phosphate pyrophosphokinase 1",
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                {
                    "name": "Phosphoribosyl pyrophosphate synthase 1",
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                    "name": "ribose phosphate diphosphokinase subunit PRS1",
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                    "name": "PRPS",
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                {
                    "name": "phosphoribosyl pyrophosphate synthase-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPSAP1",
                    "type": "recommended"
                },
                {
                    "name": "PAP39",
                    "type": "synonym"
                },
                {
                    "name": "PRPSAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14558-1",
            "evidence": [
                {
                    "id": "0050647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99697-1",
            "uniprot_ac": "Q99697",
            "uniprot_id": "PITX2_HUMAN",
            "refseq_ac": "NP_000316",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "ALL1-responsive protein ARP1",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "RIEG bicoid-related homeobox transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Solurshin",
                    "type": "synonym"
                },
                {
                    "name": "all1-responsive gene 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "rieg bicoid-related homeobox transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "solurshin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PITX2",
                    "type": "recommended"
                },
                {
                    "name": "ARP1",
                    "type": "synonym"
                },
                {
                    "name": "ASGD4",
                    "type": "synonym"
                },
                {
                    "name": "Brx1",
                    "type": "synonym"
                },
                {
                    "name": "IDG2",
                    "type": "synonym"
                },
                {
                    "name": "IGDS2",
                    "type": "synonym"
                },
                {
                    "name": "IGDS",
                    "type": "synonym"
                },
                {
                    "name": "IHG2",
                    "type": "synonym"
                },
                {
                    "name": "IRID2",
                    "type": "synonym"
                },
                {
                    "name": "Otlx2",
                    "type": "synonym"
                },
                {
                    "name": "PITX2",
                    "type": "synonym"
                },
                {
                    "name": "PTX2",
                    "type": "synonym"
                },
                {
                    "name": "RGS",
                    "type": "synonym"
                },
                {
                    "name": "RIEG1",
                    "type": "synonym"
                },
                {
                    "name": "RIEG",
                    "type": "synonym"
                },
                {
                    "name": "RS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99697-1",
            "evidence": [
                {
                    "id": "0050647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050647"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050647"
}