{
    "disease_id": "DOID:0050699",
    "recommended_name": {
        "id": "DOID:0050699",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050699",
        "name": "Dent disease",
        "description": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure."
    },
    "synonyms": [
        {
            "id": "DOID:0050699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050699",
            "name": "Dent's disease",
            "description": ""
        },
        {
            "id": "DOID:0050699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050699",
            "name": "X-linked hypercalciuric nephrocalcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0010225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010225",
            "name": "Dent disease type 1",
            "description": "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations."
        },
        {
            "id": "MONDO:0010225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010225",
            "name": "CLCN5 Dent disease",
            "description": ""
        },
        {
            "id": "MONDO:0010225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010225",
            "name": "Dent disease caused by mutation in CLCN5",
            "description": ""
        },
        {
            "id": "MONDO:0010225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010225",
            "name": "Dent disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010225",
            "name": "dent disease 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010225",
            "name": "nephrolithiasis type 1",
            "description": ""
        },
        {
            "id": "MIM:300009",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300009",
            "name": "Dent disease 1",
            "description": "Dent disease 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0081453",
            "label": "Dent disease 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081454",
            "label": "Dent disease 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111815",
            "label": "low molecular weight proteinuria with hypercalciuric nephrocalcinosis",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081453",
        "DOID:0050699",
        "DOID:0111815",
        "DOID:0081454"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050699",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050699",
            "categories": []
        },
        {
            "id": "MONDO:0010225",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010225",
            "categories": []
        },
        {
            "id": "MIM:300009",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300009",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q887-1",
            "uniprot_ac": "A0A8M9Q887",
            "uniprot_id": "A0A8M9Q887_DANRE",
            "refseq_ac": "XP_001923503",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcn3",
                    "type": "recommended"
                },
                {
                    "name": "clcn3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q887-1",
            "evidence": [
                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X1WEF7-1",
            "uniprot_ac": "X1WEF7",
            "uniprot_id": "X1WEF7_DANRE",
            "refseq_ac": "XP_001920783",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcn5a",
                    "type": "recommended"
                },
                {
                    "name": "clcn5a",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD6B6U5-1",
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            "uniprot_id": "A0ACD6B6U5_DANRE",
            "refseq_ac": "XP_685762",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "clcn5b",
                    "type": "recommended"
                },
                {
                    "name": "clcn5b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6U5-1",
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                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVD4-1",
            "uniprot_ac": "Q9WVD4",
            "uniprot_id": "CLCN5_MOUSE",
            "refseq_ac": "NP_057900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 4-1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn5",
                    "type": "recommended"
                },
                {
                    "name": "5430408K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "Clc4-1",
                    "type": "synonym"
                },
                {
                    "name": "Clc5",
                    "type": "synonym"
                },
                {
                    "name": "Clcn4-1",
                    "type": "synonym"
                },
                {
                    "name": "Clcn5",
                    "type": "synonym"
                },
                {
                    "name": "D930009B12Rik",
                    "type": "synonym"
                },
                {
                    "name": "DXImx42e",
                    "type": "synonym"
                },
                {
                    "name": "Sfc13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVD4-1",
            "evidence": [
                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61418-1",
            "uniprot_ac": "Q61418",
            "uniprot_id": "CLCN4_MOUSE",
            "refseq_ac": "NP_035464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 4",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 4-2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated chloride channel ClC-4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn4",
                    "type": "recommended"
                },
                {
                    "name": "Clc4-2",
                    "type": "synonym"
                },
                {
                    "name": "Clc4",
                    "type": "synonym"
                },
                {
                    "name": "Clcn4-2",
                    "type": "synonym"
                },
                {
                    "name": "Clcn4",
                    "type": "synonym"
                },
                {
                    "name": "clC-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61418-1",
            "evidence": [
                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51791-1",
            "uniprot_ac": "P51791",
            "uniprot_id": "CLCN3_MOUSE",
            "refseq_ac": "NP_776299",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 3 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "clC-3",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Clcn3",
                    "type": "recommended"
                },
                {
                    "name": "Clc3",
                    "type": "synonym"
                },
                {
                    "name": "Clcn3",
                    "type": "synonym"
                }
            ],
            "record_id": "P51791-1",
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                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51795-2",
            "uniprot_ac": "P51795",
            "uniprot_id": "CLCN5_HUMAN",
            "refseq_ac": "NP_000075",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated chloride ion channel CLCN5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN5",
                    "type": "recommended"
                },
                {
                    "name": "CLC5",
                    "type": "synonym"
                },
                {
                    "name": "CLCK2",
                    "type": "synonym"
                },
                {
                    "name": "CLCN5",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "DENT1",
                    "type": "synonym"
                },
                {
                    "name": "DENTS",
                    "type": "synonym"
                },
                {
                    "name": "NPHL1",
                    "type": "synonym"
                },
                {
                    "name": "NPHL2",
                    "type": "synonym"
                },
                {
                    "name": "XLRH",
                    "type": "synonym"
                },
                {
                    "name": "XRN",
                    "type": "synonym"
                },
                {
                    "name": "hCIC-K2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51795-2",
            "evidence": [
                {
                    "id": "300009",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300009"
                },
                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37020-1",
            "uniprot_ac": "P37020",
            "uniprot_id": "GEF1_YEAST",
            "refseq_ac": "NP_012574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion/proton exchange transporter GEF1",
                    "type": "recommended"
                },
                {
                    "name": "CLC protein GEF1",
                    "type": "synonym"
                },
                {
                    "name": "ClC-A",
                    "type": "synonym"
                },
                {
                    "name": "ClC-Y1",
                    "type": "synonym"
                },
                {
                    "name": "Gef1p",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated chloride channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GEF1",
                    "type": "recommended"
                },
                {
                    "name": "CLCY1",
                    "type": "synonym"
                },
                {
                    "name": "CLC",
                    "type": "synonym"
                },
                {
                    "name": "GEF1",
                    "type": "synonym"
                },
                {
                    "name": "J1616",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51792-1",
            "uniprot_ac": "P51792",
            "uniprot_id": "CLCN3_RAT",
            "refseq_ac": "NP_445815",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 3",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C-regulated chloride channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn3",
                    "type": "recommended"
                },
                {
                    "name": "ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "Clcn3",
                    "type": "synonym"
                }
            ],
            "record_id": "P51792-1",
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                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51794-1",
            "uniprot_ac": "P51794",
            "uniprot_id": "CLCN4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 4",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "ClC-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn4",
                    "type": "recommended"
                },
                {
                    "name": "Clcn4-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51794-1",
            "evidence": [
                {
                    "id": "0050699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51796-1",
            "uniprot_ac": "P51796",
            "uniprot_id": "CLCN5_RAT",
            "refseq_ac": "NP_001401322",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
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                {
                    "name": "H(+)/Cl(-) exchange transporter 5 isoform 1",
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                    "name": "chloride channel 5",
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                },
                {
                    "name": "chloride channel protein 5",
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                {
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                {
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                {
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                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 5",
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                    "name": "CLC5",
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                {
                    "name": "Clcn5",
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                    "id": "0050699",
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                    "name": "3.1.3.48",
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                    "name": "Acid phosphatase 3",
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                    "name": "Fluoride-resistant acid phosphatase",
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                {
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                    "name": "TMPase",
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                {
                    "name": "acid phosphatase, prostate",
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                    "name": "prostatic acid phosphatase (rPAP)",
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                {
                    "name": "prostatic acid phosphatase long isoform precursor",
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                {
                    "name": "protein tyrosine phosphatase ACP3",
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                {
                    "name": "thiamine monophosphatase",
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                    "name": "Ppal",
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                    "name": "MRX49",
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                    "id": "0050699",
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    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050699"
}