{
    "disease_id": "DOID:0060476",
    "recommended_name": {
        "id": "DOID:0060476",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060476",
        "name": "Perlman syndrome",
        "description": "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome."
    },
    "synonyms": [
        {
            "id": "DOID:0060476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060476",
            "name": "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor",
            "description": ""
        },
        {
            "id": "DOID:0060476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060476",
            "name": "renal hamartomas, nephroblastomatosis and fetal gigantism",
            "description": ""
        },
        {
            "id": "DOID:0060476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060476",
            "name": "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "Perlman syndrome",
            "description": "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism."
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "Perlman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
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            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "renal hamartomas, nephroblastomatosis and fetal gigantism",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "renal hamartomas, nephroblastomatosis and foetal gigantism",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "PRLMNS",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "nephroblastomatosis fetal ascites macrosomia and Wilms tumor",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "nephroblastomatosis foetal ascites macrosomia and Wilms tumour",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "nephroblastomatosis, foetal ascites, macrosomia, and Wilms tumour",
            "description": ""
        },
        {
            "id": "MONDO:0009965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "name": "renal hamartomas, nephroblastomatosis, and foetal gigantism",
            "description": ""
        },
        {
            "id": "MIM:267000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/267000",
            "name": "Perlman syndrome",
            "description": "Perlman syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060476"
    ],
    "unlinked_id_list": [],
    "crossref": [
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            "id": "DOID:0060476",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060476",
            "categories": []
        },
        {
            "id": "MONDO:0009965",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009965",
            "categories": []
        },
        {
            "id": "MIM:267000",
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            "url": "https://www.omim.org/entry/267000",
            "categories": []
        }
    ],
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            "uniprot_ac": "E7F350",
            "uniprot_id": "E7F350_DANRE",
            "refseq_ac": "XP_073778906",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
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            "protein_names": [
                {
                    "name": "DIS3-like exonuclease 2",
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "dis3l2",
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                }
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060476"
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                }
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                    "type": "recommended"
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                    "name": "3.1.13.-",
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                {
                    "name": "DIS3 mitotic control homolog-like 2",
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                    "name": "DIS3-like exonuclease 2",
                    "type": "synonym"
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                    "name": "Dis3l2",
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                    "name": "8030493P09Rik",
                    "type": "synonym"
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            ],
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                    "id": "0060476",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "DIS3-like exonuclease 2",
                    "type": "recommended"
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                    "name": "3.1.13.-",
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                },
                {
                    "name": "DIS3 mitotic control homolog-like 2",
                    "type": "synonym"
                },
                {
                    "name": "DIS3-like exonuclease 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DIS3-like exonuclease 2",
                    "type": "synonym"
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                {
                    "name": "family with sequence similarity 6, member A",
                    "type": "synonym"
                },
                {
                    "name": "hDIS3L2",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "DIS3L2",
                    "type": "recommended"
                },
                {
                    "name": "DIS3L2",
                    "type": "synonym"
                },
                {
                    "name": "FAM6A",
                    "type": "synonym"
                },
                {
                    "name": "PRLMNS",
                    "type": "synonym"
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                    "url": "https://www.omim.org/entry/267000"
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                    "id": "0060476",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060476"
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            "uniprot_ac": "P24276",
            "uniprot_id": "SSD1_YEAST",
            "refseq_ac": "NP_010579",
            "glycoprotein": "no",
            "species": [
                {
                    "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": "Protein SSD1",
                    "type": "recommended"
                },
                {
                    "name": "Protein SRK1",
                    "type": "synonym"
                },
                {
                    "name": "mRNA-binding translational repressor SSD1",
                    "type": "synonym"
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                {
                    "name": "CLA1",
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                },
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                    "name": "D9819.4",
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                {
                    "name": "MCS1",
                    "type": "synonym"
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                {
                    "name": "RLD1",
                    "type": "synonym"
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                {
                    "name": "RLT1",
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                    "name": "SSD1",
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                    "id": "0060476",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060476"
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            "uniprot_ac": "A0A0G2K6W6",
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            "refseq_ac": "NP_001102477",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
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                }
            ],
            "protein_names": [
                {
                    "name": "DIS3-like exonuclease 2",
                    "type": "recommended"
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                {
                    "name": "DIS3 mitotic control homolog-like 2",
                    "type": "synonym"
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                {
                    "name": "DIS3-like exonuclease 2 isoform 1",
                    "type": "synonym"
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                    "name": "DIS3-like exonuclease 2",
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                    "name": "Dis3l2",
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                    "name": "DIS3L2",
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                    "name": "RGD1560168",
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                    "id": "0060476",
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                {
                    "name": "Drosophila melanogaster",
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                    "name": "3.1.13.-",
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                    "name": "CG16940-PC",
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                {
                    "name": "Dis3 like 3'-5' exoribonuclease 2, isoform C",
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                    "name": "Dis3l2-PC",
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                    "type": "recommended"
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                {
                    "name": "Dis3l2",
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                    "name": "Dmel\\CG16940",
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                {
                    "name": "Dmel_CG16940",
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                    "name": "dis3L2",
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                    "name": "dmDis3l2",
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                    "id": "0060476",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060476"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060476"
}