{
    "disease_id": "DOID:0060264",
    "recommended_name": {
        "id": "DOID:0060264",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060264",
        "name": "pontocerebellar hypoplasia",
        "description": "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum."
    },
    "synonyms": [
        {
            "id": "DOID:0060264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060264",
            "name": "PCH",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia type 1A",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene."
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "VRK1 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "PCH1A",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia, type 1A",
            "description": ""
        },
        {
            "id": "MIM:607596",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607596",
            "name": "Pontocerebellar hypoplasia 1A",
            "description": "Pontocerebellar hypoplasia 1A"
        }
    ],
    "children": [
        {
            "id": "DOID:0060272",
            "label": "pontocerebellar hypoplasia type 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060273",
            "label": "pontocerebellar hypoplasia type 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060274",
            "label": "pontocerebellar hypoplasia type 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060275",
            "label": "pontocerebellar hypoplasia type 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060276",
            "label": "pontocerebellar hypoplasia type 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060277",
            "label": "pontocerebellar hypoplasia type 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060278",
            "label": "pontocerebellar hypoplasia type 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060279",
            "label": "pontocerebellar hypoplasia type 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112322",
            "label": "pontocerebellar hypoplasia type 1",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0060265",
                    "label": "pontocerebellar hypoplasia type 1A",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060266",
                    "label": "pontocerebellar hypoplasia type 1B",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112323",
                    "label": "pontocerebellar hypoplasia type 1D",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112330",
                    "label": "pontocerebellar hypoplasia type 1E",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112331",
                    "label": "pontocerebellar hypoplasia type 1F",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112334",
                    "label": "pontocerebellar hypoplasia type 1C",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0112324",
            "label": "pontocerebellar hypoplasia type 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112325",
            "label": "pontocerebellar hypoplasia type 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112326",
            "label": "pontocerebellar hypoplasia type 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112327",
            "label": "pontocerebellar hypoplasia type 12",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112328",
            "label": "pontocerebellar hypoplasia type 2",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0060267",
                    "label": "pontocerebellar hypoplasia type 2A",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060268",
                    "label": "pontocerebellar hypoplasia type 2B",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060269",
                    "label": "pontocerebellar hypoplasia type 2C",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060270",
                    "label": "pontocerebellar hypoplasia type 2D",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060271",
                    "label": "pontocerebellar hypoplasia type 2E",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112329",
                    "label": "pontocerebellar hypoplasia type 2F",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0112332",
            "label": "pontocerebellar hypoplasia type 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112333",
            "label": "pontocerebellar hypoplasia type 16",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0112324",
        "DOID:0112334",
        "DOID:0060271",
        "DOID:0060277",
        "DOID:0112330",
        "DOID:0060276",
        "DOID:0112326",
        "DOID:0060279",
        "DOID:0112325",
        "DOID:0060265",
        "DOID:0060272",
        "DOID:0060264",
        "DOID:0060268",
        "DOID:0112333",
        "DOID:0112332",
        "DOID:0060273",
        "DOID:0060275",
        "DOID:0112331",
        "DOID:0060270",
        "DOID:0060274",
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        "DOID:0060266",
        "DOID:0112327",
        "DOID:0112323",
        "DOID:0112329",
        "DOID:0060278",
        "DOID:0060267",
        "DOID:0112322"
    ],
    "unlinked_id_list": [
        "DOID:0112328",
        "DOID:0112322"
    ],
    "crossref": [
        {
            "id": "DOID:0060264",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060264",
            "categories": []
        },
        {
            "id": "MONDO:0011866",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "categories": []
        },
        {
            "id": "MIM:607596",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607596",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "B8A5U4-1",
            "uniprot_ac": "B8A5U4",
            "uniprot_id": "B8A5U4_DANRE",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of EGR1 protein 1",
                    "type": "recommended"
                },
                {
                    "name": "target of EGR1 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of EGR1, member 1 (nuclear)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "toe1",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-40i22.3",
                    "type": "synonym"
                },
                {
                    "name": "toe1",
                    "type": "synonym"
                }
            ],
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                    "id": "0060264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7SXV1-1",
            "uniprot_ac": "Q7SXV1",
            "uniprot_id": "TBC23_DANRE",
            "refseq_ac": "NP_956781",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 23",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbc1d23",
                    "type": "recommended"
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                {
                    "name": "tbc1d23",
                    "type": "synonym"
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                {
                    "name": "zgc:63756",
                    "type": "synonym"
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            ],
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                    "id": "0060264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1R7D7-1",
            "uniprot_ac": "F1R7D7",
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            "refseq_ac": "NP_001313383",
            "glycoprotein": "yes",
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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": "PR domain zinc finger protein 13",
                    "type": "recommended"
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                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prdm13",
                    "type": "recommended"
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                {
                    "name": "prdm13",
                    "type": "synonym"
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            ],
            "record_id": "F1R7D7-1",
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                    "id": "0060264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
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            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1REB8-1",
            "uniprot_ac": "A0A8M1REB8",
            "uniprot_id": "A0A8M1REB8_DANRE",
            "refseq_ac": "XP_002666175",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "ampd2a",
                    "type": "recommended"
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                    "id": "0060264",
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        {
            "uniprot_canonical_ac": "A0A8M3BBF1-1",
            "uniprot_ac": "A0A8M3BBF1",
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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": "AMP deaminase",
                    "type": "recommended"
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                {
                    "name": "3.5.4.6",
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                {
                    "name": "AMP deaminase 3 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "ampd3a",
                    "type": "recommended"
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                {
                    "name": "ampd3a",
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                    "id": "0060264",
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            "uniprot_ac": "A0A8M3AV69",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
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                {
                    "name": "AMP deaminase 2 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ampd2b",
                    "type": "recommended"
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                {
                    "name": "ampd2b",
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                    "id": "0060264",
                    "database": "AGR",
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        {
            "uniprot_canonical_ac": "E9PZZ1-1",
            "uniprot_ac": "E9PZZ1",
            "uniprot_id": "PRD13_MOUSE",
            "refseq_ac": "NP_001074240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "recommended"
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                {
                    "name": "2.1.1.-",
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                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 13",
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                {
                    "name": "Prdm13",
                    "type": "recommended"
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                {
                    "name": "Prdm13",
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                    "id": "0060264",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
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            "uniprot_canonical_ac": "O08739-1",
            "uniprot_ac": "O08739",
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "AMP deaminase 3",
                    "type": "recommended"
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                    "name": "3.5.4.6",
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                    "name": "AMP deaminase 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 3",
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                {
                    "name": "AMP deaminase H-type",
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                {
                    "name": "AMP deaminase isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Heart-type AMPD",
                    "type": "synonym"
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                {
                    "name": "heart-type AMPD",
                    "type": "synonym"
                }
            ],
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                    "name": "Ampd3",
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                    "name": "Ampd3",
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                    "id": "0060264",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "AMP deaminase 1",
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                    "name": "AMP deaminase 1",
                    "type": "synonym"
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                {
                    "name": "AMP deaminase isoform M",
                    "type": "synonym"
                },
                {
                    "name": "Myoadenylate deaminase",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate deaminase 1 (isoform M)",
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                {
                    "name": "myoadenylate deaminase",
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                    "name": "Ampd1",
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                    "id": "0060264",
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "AMP deaminase 2",
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                    "name": "3.5.4.6",
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                {
                    "name": "AMP deaminase 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase isoform L",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate deaminase 2 (isoform L)",
                    "type": "synonym"
                }
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                    "name": "Ampd2",
                    "type": "recommended"
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                    "name": "1200014F01Rik",
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                {
                    "name": "Ampd-2",
                    "type": "synonym"
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                {
                    "name": "Ampd2",
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                {
                    "name": "m4521Dajl",
                    "type": "synonym"
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                    "id": "0060264",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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            "refseq_ac": "NP_000027",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 1",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase isoform M",
                    "type": "synonym"
                },
                {
                    "name": "AMPD",
                    "type": "synonym"
                },
                {
                    "name": "Myoadenylate deaminase",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate deaminase 1 (isoform M)",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate deaminase-1 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "myoadenylate deaminase",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle AMPD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMPD1",
                    "type": "recommended"
                },
                {
                    "name": "AMPD1",
                    "type": "synonym"
                },
                {
                    "name": "MADA",
                    "type": "synonym"
                },
                {
                    "name": "MAD",
                    "type": "synonym"
                },
                {
                    "name": "MMDD",
                    "type": "synonym"
                }
            ],
            "record_id": "P23109-1",
            "evidence": [
                {
                    "id": "0060264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96GM8-1",
            "uniprot_ac": "Q96GM8",
            "uniprot_id": "TOE1_HUMAN",
            "refseq_ac": "NP_079353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of EGR1 protein 1",
                    "type": "recommended"
                },
                {
                    "name": "target of EGR1 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of EGR1, member 1 (nuclear)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "TOE1",
                    "type": "recommended"
                },
                {
                    "name": "PCH7",
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                },
                {
                    "name": "TOE-1",
                    "type": "synonym"
                },
                {
                    "name": "TOE1",
                    "type": "synonym"
                },
                {
                    "name": "hCaf1z",
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                }
            ],
            "record_id": "Q96GM8-1",
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                {
                    "id": "0060264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NUY8-1",
            "uniprot_ac": "Q9NUY8",
            "uniprot_id": "TBC23_HUMAN",
            "refseq_ac": "NP_001186127",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 23",
                    "type": "recommended"
                },
                {
                    "name": "HCV non-structural protein 4A-transactivated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HCV nonstructural protein 4A-transactivated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TBC1 domain family member 23 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBC1D23",
                    "type": "recommended"
                },
                {
                    "name": "NS4ATP1",
                    "type": "synonym"
                },
                {
                    "name": "PCH11",
                    "type": "synonym"
                },
                {
                    "name": "TBC1D23",
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                }
            ],
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                    "id": "0060264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4Q3-1",
            "uniprot_ac": "Q9H4Q3",
            "uniprot_id": "PRD13_HUMAN",
            "refseq_ac": "NP_067633",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "PR domain 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain containing 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 13",
                    "type": "synonym"
                },
                {
                    "name": "PR-domain containing protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRDM13",
                    "type": "recommended"
                },
                {
                    "name": "CDIDHH",
                    "type": "synonym"
                },
                {
                    "name": "MU-MB-20.220",
                    "type": "synonym"
                },
                {
                    "name": "PCH17",
                    "type": "synonym"
                },
                {
                    "name": "PFM10",
                    "type": "synonym"
                },
                {
                    "name": "PRDM13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4Q3-1",
            "evidence": [
                {
                    "id": "0060264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060264"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060264"
}