{
    "disease_id": "DOID:0060856",
    "recommended_name": {
        "id": "DOID:0060856",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060856",
        "name": "right atrial isomerism",
        "description": "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12."
    },
    "synonyms": [
        {
            "id": "DOID:0060856",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060856",
            "name": "Ivemark syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060856",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060856",
            "name": "asplenia with cardiovascular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "right atrial isomerism",
            "description": "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12."
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "Ivemark Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "Ivemark syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "asplenia with cardiovascular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "right atrial isomerism",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "right atrial isomerism (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "right atrial isomerism (ivemark)",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "RAI",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "asplenia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "bilateral right-sidedness sequence",
            "description": ""
        },
        {
            "id": "MONDO:0008832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "name": "splenic agenesis syndrome",
            "description": ""
        },
        {
            "id": "MIM:208530",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208530",
            "name": "Right atrial isomerism",
            "description": "Right atrial isomerism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060856"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060856",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060856",
            "categories": []
        },
        {
            "id": "MONDO:0008832",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008832",
            "categories": []
        },
        {
            "id": "MIM:208530",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208530",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "P35621",
            "uniprot_id": "DVR1_DANRE",
            "refseq_ac": "NP_571023",
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            "species": [
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "name": "decapentaplegic and Vg-related 1",
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                    "name": "protein DVR-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein DVR-1",
                    "type": "synonym"
                }
            ],
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                    "name": "dvr1",
                    "type": "recommended"
                },
                {
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                    "type": "recommended"
                },
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                    "name": "VG1",
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                    "type": "synonym"
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                    "type": "synonym"
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                },
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                    "name": "vg1",
                    "type": "synonym"
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                    "name": "zDVR-1",
                    "type": "synonym"
                },
                {
                    "name": "zDVR1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103542",
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                }
            ],
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                    "id": "0060856",
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        },
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            "uniprot_id": "CFC1_MOUSE",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
            "protein_names": [
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                    "name": "Cryptic protein",
                    "type": "recommended"
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                    "name": "cripto, FRL-1, cryptic family 1",
                    "type": "synonym"
                },
                {
                    "name": "cryptic protein precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Cfc1",
                    "type": "recommended"
                },
                {
                    "name": "Cfc1",
                    "type": "synonym"
                },
                {
                    "name": "b2b970Clo",
                    "type": "synonym"
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                    "name": "cryptic",
                    "type": "synonym"
                }
            ],
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                    "id": "0060856",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060856"
                }
            ]
        },
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activin receptor type-2B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ACTR-IIB",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type-2B isoform 2 precursor",
                    "type": "synonym"
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                {
                    "name": "activin receptor type-2B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Acvr2b",
                    "type": "recommended"
                },
                {
                    "name": "4930516B21Rik",
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                },
                {
                    "name": "AI047905",
                    "type": "synonym"
                },
                {
                    "name": "ActRIIB",
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                },
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                    "name": "Acvr2b",
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            ],
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                    "id": "0060856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060856"
                }
            ]
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            "uniprot_canonical_ac": "P20863-1",
            "uniprot_ac": "P20863",
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            "glycoprotein": "yes",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
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                    "name": "GDF-1",
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                {
                    "name": "embryonic growth/differentiation factor 1 precursor",
                    "type": "synonym"
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                {
                    "name": "embryonic growth/differentiation factor 1",
                    "type": "synonym"
                }
            ],
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                    "name": "Gdf1",
                    "type": "recommended"
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                {
                    "name": "Gdf-1",
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                {
                    "name": "Gdf1",
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                {
                    "id": "0060856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060856"
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            ]
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            "uniprot_canonical_ac": "Q62521-1",
            "uniprot_ac": "Q62521",
            "uniprot_id": "ZIC3_MOUSE",
            "refseq_ac": "NP_033601",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Zinc finger protein ZIC 3",
                    "type": "recommended"
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                {
                    "name": "Zic family member 3 (odd-paired homolog, Drosophila)",
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                },
                {
                    "name": "Zinc finger protein of the cerebellum 3",
                    "type": "synonym"
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                    "name": "zinc finger protein ZIC 3",
                    "type": "synonym"
                }
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                {
                    "name": "Zic3",
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                    "name": "Bn",
                    "type": "synonym"
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                    "name": "Ka",
                    "type": "synonym"
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                    "name": "Zic3",
                    "type": "synonym"
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                    "id": "0060856",
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            "uniprot_canonical_ac": "P27539-1",
            "uniprot_ac": "P27539",
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            "refseq_ac": "NP_001483",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
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                    "name": "Embryonic growth/differentiation factor 1",
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                    "name": "GDF-1",
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                    "name": "embryonic growth/differentiation factor 1 precursor",
                    "type": "synonym"
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                {
                    "name": "embryonic growth/differentiation factor 1",
                    "type": "synonym"
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                {
                    "name": "GDF1",
                    "type": "recommended"
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                {
                    "name": "CHTD6",
                    "type": "synonym"
                },
                {
                    "name": "DORV",
                    "type": "synonym"
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                    "name": "DTGA3",
                    "type": "synonym"
                },
                {
                    "name": "GDF1",
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                    "name": "RAI",
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                {
                    "id": "0060856",
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            "uniprot_canonical_ac": "A0ABK0LH97-1",
            "uniprot_ac": "A0ABK0LH97",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                {
                    "name": "Zic family member 3",
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                    "name": "Zic3",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                    "name": "Cripto, FRL-1, cryptic family 1",
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                    "name": "Cfc1",
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                    "name": "RGD1562188",
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                    "id": "0060856",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
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                    "name": "Activin receptor type-2B",
                    "type": "recommended"
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                    "name": "2.7.11.30",
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                {
                    "name": "ActRIIB type II activin receptor B",
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                    "name": "Activin receptor type IIB",
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                {
                    "name": "Activine receptor 2b (transmembrane serine kinase)",
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                {
                    "name": "activin receptor IIB",
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                {
                    "name": "activin receptor type IIB",
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                    "name": "activin receptor type-2B precursor",
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                    "name": "Actriib",
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                    "id": "0060856",
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                    "name": "GLI-Kr zinc finger pair-rule protein",
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                }
            ],
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                    "name": "Receptor protein serine/threonine kinase put",
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                    "name": "Activin type II receptor",
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                {
                    "name": "Activin-A-receptor-88CD",
                    "type": "synonym"
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                {
                    "name": "CG7904-PB",
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                    "name": "DPP receptor",
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                    "name": "Protein punt",
                    "type": "synonym"
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                    "name": "TGF-beta-type-receptor-like",
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                    "name": "activin receptor type II",
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                {
                    "name": "activin receptor",
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                {
                    "name": "dorsal holes C",
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                {
                    "name": "punt, isoform B",
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                    "name": "punt",
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                    "name": "put-PB",
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                    "name": "put",
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                    "name": "Act-r",
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                },
                {
                    "name": "Atr-II",
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                    "name": "AtrII",
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                    "name": "Atr",
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                    "name": "CG7904",
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                    "name": "Dmel\\CG7904",
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                    "name": "PUNT",
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                {
                    "name": "Punt",
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                {
                    "name": "Put",
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                },
                {
                    "name": "STK-C",
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                {
                    "name": "TGF-B",
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                {
                    "name": "TGF-beta",
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                {
                    "name": "Tgf-r",
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                {
                    "name": "atrII",
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                },
                {
                    "name": "dlhC",
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                {
                    "name": "l(3)10460",
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                {
                    "name": "l(3)j5A5",
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                {
                    "name": "pun",
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                {
                    "name": "put",
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            ],
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                    "id": "0060856",
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            "uniprot_canonical_ac": "O60481-1",
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                    "name": "Zic family member 3 (odd-paired homolog, Drosophila)",
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                {
                    "name": "Zinc finger protein 203",
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                {
                    "name": "Zinc finger protein of the cerebellum 3",
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                    "name": "zinc finger protein 203",
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                    "name": "zinc finger protein ZIC 3 isoform 2",
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                {
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                    "name": "ZNF203",
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                    "name": "Cryptic family protein 1B",
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            ],
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                    "name": "cripto, FRL-1, cryptic family 1",
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                    "name": "cryptic protein isoform 2 precursor",
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                {
                    "name": "heterotaxy 2 (autosomal dominant)",
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                    "name": "CRYPTIC",
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                    "name": "DTGA2",
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                    "name": "ACTR-IIB",
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                    "name": "Activin receptor type IIB",
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                {
                    "name": "activin A receptor, type IIB",
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                    "name": "activin receptor type-2B precursor",
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    ],
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060856"
}