{
    "disease_id": "DOID:0110210",
    "recommended_name": {
        "id": "DOID:0110210",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110210",
        "name": "Charcot-Marie-Tooth disease X-linked recessive 5",
        "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22."
    },
    "synonyms": [
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110210",
            "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 5",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110210",
            "name": "CMT5X",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110210",
            "name": "CMTX5",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110210",
            "name": "Rosenberg-Chutorian syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110210",
            "name": "X-linked Charcot-Marie-Tooth disease type 5",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110210",
            "name": "optic atrophy, polyneuropathy, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease X-linked recessive 5",
            "description": "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype."
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "CMT5X",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "CMTX5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease X-linked recessive type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth neuropathy X type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Rosenberg Chutorian Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Rosenberg-Chutorian syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "X-linked Charcot-Marie-Tooth disease type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "familial opticoacoustic nerve degeneration and polyneuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "optic atrophy, polyneuropathy, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "optic atrophy, sensorineural hearing loss and polyneuropathy",
            "description": ""
        },
        {
            "id": "MIM:311070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/311070",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5",
            "description": "Charcot-Marie-Tooth disease, X-linked recessive, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110210"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110210",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110210",
            "categories": []
        },
        {
            "id": "MONDO:0010699",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "categories": []
        },
        {
            "id": "MIM:311070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/311070",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "G3UXL2-1",
            "uniprot_ac": "G3UXL2",
            "uniprot_id": "G3UXL2_MOUSE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "Prps1l3",
                    "type": "recommended"
                },
                {
                    "name": "328099",
                    "type": "synonym"
                },
                {
                    "name": "AU021838",
                    "type": "synonym"
                },
                {
                    "name": "AW536152",
                    "type": "synonym"
                },
                {
                    "name": "Gm5081",
                    "type": "synonym"
                },
                {
                    "name": "Prps1l3",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110210"
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            "uniprot_ac": "Q9D7G0",
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            "refseq_ac": "NP_067438",
            "glycoprotein": "yes",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
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                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
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                {
                    "name": "phosphoribosyl pyrophosphate synthetase I",
                    "type": "synonym"
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                {
                    "name": "ribose-phosphate pyrophosphokinase 1",
                    "type": "synonym"
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            ],
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                {
                    "name": "Prps1",
                    "type": "recommended"
                },
                {
                    "name": "2310010D17Rik",
                    "type": "synonym"
                },
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                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "Prps-1",
                    "type": "synonym"
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                    "name": "Prps1",
                    "type": "synonym"
                }
            ],
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                    "id": "0110210",
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                }
            ]
        },
        {
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            "uniprot_ac": "Q9D0M1",
            "uniprot_id": "KPRA_MOUSE",
            "refseq_ac": "NP_080640",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoribosyl pyrophosphate synthase-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "39 kDa phosphoribosypyrophosphate synthase-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "39 kDa phosphoribosypyrophosphate synthetase-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "PAP39",
                    "type": "synonym"
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                {
                    "name": "PRPP synthase-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PRPP synthetase-associated protein 1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
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                    "name": "phosphoribosyl pyrophosphate synthase-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "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": "0110210",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110210"
                }
            ]
        },
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            "uniprot_ac": "Q8R574",
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                    "name": "Mus musculus",
                    "taxid": 10090,
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoribosyl pyrophosphate synthase-associated protein 2",
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                },
                {
                    "name": "41 kDa phosphoribosypyrophosphate synthetase-associated protein",
                    "type": "synonym"
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                    "name": "PAP41",
                    "type": "synonym"
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                {
                    "name": "PRPP synthase-associated protein 2",
                    "type": "synonym"
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                {
                    "name": "PRPP synthetase-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase-associated protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase-associated protein 2",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "Prpsap2",
                    "type": "recommended"
                },
                {
                    "name": "A230054F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "PAP41",
                    "type": "synonym"
                },
                {
                    "name": "Prpsap2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R574-1",
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                    "id": "0110210",
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        },
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            "uniprot_canonical_ac": "P60891-1",
            "uniprot_ac": "P60891",
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            "refseq_ac": "NP_001191331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
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                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
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                    "type": "synonym"
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                {
                    "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"
                },
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                    "name": "phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate diphosphokinase 1",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 1 isoform 2",
                    "type": "synonym"
                },
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                    "name": "ribose-phosphate pyrophosphokinase 1",
                    "type": "synonym"
                }
            ],
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                    "name": "PRPS1",
                    "type": "recommended"
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                {
                    "name": "ARTS",
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                    "name": "CMTX5",
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                    "name": "DFN2",
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                    "name": "DFNX1",
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                },
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                    "name": "PPRibP",
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                    "name": "PRPS1",
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                    "id": "0110210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110210"
                }
            ]
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            "uniprot_ac": "P32895",
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            "glycoprotein": "no",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                },
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                    "name": "PRPS1",
                    "type": "synonym"
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                    "id": "0110210",
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                    "name": "PRS2",
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                    "id": "0110210",
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                }
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                    "name": "Ribose-phosphate pyrophosphokinase 3",
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                    "type": "synonym"
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                    "name": "PRS3",
                    "type": "recommended"
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                },
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                    "name": "PRS3",
                    "type": "synonym"
                }
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                    "id": "0110210",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110210"
                }
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            "uniprot_canonical_ac": "P38063-1",
            "uniprot_ac": "P38063",
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            "glycoprotein": "no",
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Ribose-phosphate pyrophosphokinase 4",
                    "type": "recommended"
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                    "name": "2.7.6.1",
                    "type": "synonym"
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                {
                    "name": "Phosphoribosyl pyrophosphate synthase 4",
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                {
                    "name": "ribose phosphate diphosphokinase subunit PRS4",
                    "type": "synonym"
                }
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                    "name": "PRS4",
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                    "name": "PRPS4",
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                },
                {
                    "name": "PRS4",
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                },
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                    "name": "YBL0619",
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                }
            ],
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                    "id": "0110210",
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                {
                    "name": "ribose-phosphate pyrophosphokinase III",
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                    "name": "PRPS3",
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                    "name": "PRPSL",
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                    "id": "0110210",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110210"
}