{
    "disease_id": "DOID:0110179",
    "recommended_name": {
        "id": "DOID:0110179",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110179",
        "name": "Charcot-Marie-Tooth disease type 2B2",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110179",
            "name": "AR-CMT2B2",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110179",
            "name": "ARCMT2B",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110179",
            "name": "Autosomal recessive axonal CMT4C3",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110179",
            "name": "CMT2B2",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110179",
            "name": "Charcot-Marie-Tooth disease neuronal type 2B2",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110179",
            "name": "Charcot-Marie-Tooth neuropathy type 2B2",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110179",
            "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease type 2B2",
            "description": "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry."
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "AR-CMT2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "ARCMT2B",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "CMT2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease, type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "autosomal recessive axonal CMT4C3",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "CMT 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot Marie Tooth disease type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2B2",
            "description": ""
        },
        {
            "id": "MIM:605589",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605589",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2B2",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2B2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110179"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110179",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110179",
            "categories": []
        },
        {
            "id": "MONDO:0011570",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "categories": []
        },
        {
            "id": "MIM:605589",
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            "url": "https://www.omim.org/entry/605589",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A0R4IRS4",
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                }
            ],
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                    "type": "synonym"
                },
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                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase-3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional polynucleotide phosphatase/kinase isoform X1",
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                }
            ],
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                {
                    "name": "pnkp",
                    "type": "recommended"
                },
                {
                    "name": "fe48d04",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "wu:fe48d04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153084",
                    "type": "synonym"
                }
            ],
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                    "id": "0110179",
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                }
            ]
        },
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            "uniprot_ac": "Q9JLV6",
            "uniprot_id": "PNKP_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Bifunctional polynucleotide phosphatase/kinase",
                    "type": "recommended"
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                {
                    "name": "2'(3')-polynucleotidase",
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                },
                {
                    "name": "DNA 5'-kinase/3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase-3'-phosphatase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pnkp",
                    "type": "recommended"
                }
            ],
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                {
                    "id": "0110179",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q71SY5-1",
            "uniprot_ac": "Q71SY5",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 25",
                    "type": "recommended"
                },
                {
                    "name": "ARC/mediator transcriptional coactivator subunit",
                    "type": "synonym"
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                    "name": "ARC92",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 92 kDa component",
                    "type": "synonym"
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                },
                {
                    "name": "activator-recruited cofactor 92 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 25 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 25",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription, subunit 25 homolog",
                    "type": "synonym"
                },
                {
                    "name": "p78",
                    "type": "synonym"
                },
                {
                    "name": "prostate-derived protein 78 kDa",
                    "type": "synonym"
                }
            ],
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                    "name": "MED25",
                    "type": "recommended"
                },
                {
                    "name": "ACID1",
                    "type": "synonym"
                },
                {
                    "name": "ARC92",
                    "type": "synonym"
                },
                {
                    "name": "BVSYS",
                    "type": "synonym"
                },
                {
                    "name": "CMT2B2",
                    "type": "synonym"
                },
                {
                    "name": "MED25",
                    "type": "synonym"
                },
                {
                    "name": "P78",
                    "type": "synonym"
                },
                {
                    "name": "PTOV2",
                    "type": "synonym"
                },
                {
                    "name": "TCBAP0758",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "605589",
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                    "url": "https://www.omim.org/entry/605589"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q03796-1",
            "uniprot_ac": "Q03796",
            "uniprot_id": "TPP1_YEAST",
            "refseq_ac": "NP_013877",
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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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                {
                    "name": "Polynucleotide 3'-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "2'(3')-polynucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.32",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Three prime phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide 3'-phosphatase",
                    "type": "synonym"
                }
            ],
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                    "name": "TPP1",
                    "type": "recommended"
                },
                {
                    "name": "TPP1",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.05C",
                    "type": "synonym"
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                    "id": "0110179",
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            "uniprot_ac": "A0A0G2JUH4",
            "uniprot_id": "A0A0G2JUH4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional polynucleotide phosphatase/kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.78",
                    "type": "synonym"
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                    "name": "3.1.3.32",
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            "uniprot_ac": "Q9VHS0",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG9601-PA",
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                {
                    "name": "PNKP ortholog",
                    "type": "synonym"
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                {
                    "name": "PNKP-PA",
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                    "name": "Polynucleotide kinase 3'-phosphatase",
                    "type": "synonym"
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                },
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                {
                    "name": "Dmel\\CG9601",
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                    "id": "0110179",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
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                    "name": "Bifunctional polynucleotide phosphatase/kinase",
                    "type": "recommended"
                },
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                    "name": "2'(3')-polynucleotidase",
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                },
                {
                    "name": "DNA 5'-kinase/3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP)",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase-3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional polynucleotide phosphatase/kinase",
                    "type": "synonym"
                }
            ],
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                    "name": "PNKP",
                    "type": "recommended"
                },
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                    "name": "AOA4",
                    "type": "synonym"
                },
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                    "name": "CMT2B2",
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                {
                    "name": "EIEE10",
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                },
                {
                    "name": "MCSZ",
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                },
                {
                    "name": "PNKP",
                    "type": "synonym"
                },
                {
                    "name": "PNK",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110179"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110179"
}