{
    "disease_id": "DOID:0050547",
    "recommended_name": {
        "id": "DOID:0050547",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050547",
        "name": "familial medullary thyroid carcinoma",
        "description": "A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22."
    },
    "synonyms": [
        {
            "id": "DOID:0050547",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050547",
            "name": "THYROID CARCINOMA, FAMILIAL MEDULLARY",
            "description": ""
        },
        {
            "id": "MONDO:0007958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "name": "familial medullary thyroid carcinoma",
            "description": "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome."
        },
        {
            "id": "MONDO:0007958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "name": "medullary thyroid carcinoma",
            "description": ""
        },
        {
            "id": "MONDO:0007958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "name": "familial MTC",
            "description": ""
        },
        {
            "id": "MONDO:0007958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "name": "familial medullary thyroid carcinoma",
            "description": ""
        },
        {
            "id": "MONDO:0007958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "name": "hereditary medullary thyroid gland carcinoma",
            "description": ""
        },
        {
            "id": "MONDO:0007958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "name": "hereditary thyroid medullary carcinoma",
            "description": ""
        },
        {
            "id": "MONDO:0007958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "name": "thyroid carcinoma, familial medullary",
            "description": ""
        },
        {
            "id": "MONDO:0007958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "name": "MTC",
            "description": ""
        },
        {
            "id": "MIM:155240",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/155240",
            "name": "Medullary thyroid carcinoma",
            "description": "Medullary thyroid carcinoma"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050547"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050547",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050547",
            "categories": []
        },
        {
            "id": "MONDO:0007958",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007958",
            "categories": []
        },
        {
            "id": "MIM:155240",
            "database": "MIM",
            "url": "https://www.omim.org/entry/155240",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BCV8-1",
            "uniprot_ac": "A0A8M2BCV8",
            "uniprot_id": "A0A8M2BCV8_DANRE",
            "refseq_ac": "XP_005165667",
            "glycoprotein": "no",
            "species": [
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolactin receptor",
                    "type": "recommended"
                },
                {
                    "name": "PRL-R",
                    "type": "synonym"
                },
                {
                    "name": "prolactin receptor b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prlrb",
                    "type": "recommended"
                },
                {
                    "name": "PRLR",
                    "type": "synonym"
                },
                {
                    "name": "prlr.b",
                    "type": "synonym"
                },
                {
                    "name": "prlrb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-261c8.2",
                    "type": "synonym"
                }
            ],
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                    "id": "0050547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050547"
                }
            ]
        },
        {
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            "uniprot_ac": "A0A8M9PQC9",
            "uniprot_id": "A0A8M9PQC9_DANRE",
            "refseq_ac": "XP_021324476",
            "glycoprotein": "no",
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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": "Prolactin receptor",
                    "type": "recommended"
                },
                {
                    "name": "PRL-R",
                    "type": "synonym"
                },
                {
                    "name": "prolactin receptor a isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "prlra",
                    "type": "recommended"
                },
                {
                    "name": "PRLR",
                    "type": "synonym"
                },
                {
                    "name": "prlra",
                    "type": "synonym"
                },
                {
                    "name": "prlr",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj65c07",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050547",
                    "database": "AGR",
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                }
            ]
        },
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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": "Prolactin receptor",
                    "type": "recommended"
                },
                {
                    "name": "PRL-R",
                    "type": "synonym"
                },
                {
                    "name": "prolactin receptor isoform 3 precursor",
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                {
                    "name": "prolactin receptor related sequence 1",
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            ],
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                {
                    "name": "Prlr",
                    "type": "recommended"
                },
                {
                    "name": "PRLR",
                    "type": "synonym"
                },
                {
                    "name": "Pr-1",
                    "type": "synonym"
                },
                {
                    "name": "Pr-3",
                    "type": "synonym"
                },
                {
                    "name": "Prlr-rs1",
                    "type": "synonym"
                },
                {
                    "name": "Prlr",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050547",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35546-1",
            "uniprot_ac": "P35546",
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            "refseq_ac": "NP_001074249",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene tyrosine-protein kinase receptor Ret",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Ret",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Ret",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase receptor Ret",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ret",
                    "type": "recommended"
                },
                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "RET51",
                    "type": "synonym"
                },
                {
                    "name": "RET9",
                    "type": "synonym"
                },
                {
                    "name": "Ret",
                    "type": "synonym"
                },
                {
                    "name": "c-Ret",
                    "type": "synonym"
                }
            ],
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                    "id": "0050547",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07949-1",
            "uniprot_ac": "P07949",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Proto-oncogene tyrosine-protein kinase receptor Ret",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin family member 12",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Ret",
                    "type": "synonym"
                },
                {
                    "name": "RET receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 12",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-related family member 16",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Ret",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase receptor Ret",
                    "type": "synonym"
                },
                {
                    "name": "rearranged during transfection",
                    "type": "synonym"
                },
                {
                    "name": "ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "RET",
                    "type": "recommended"
                },
                {
                    "name": "CDHF12",
                    "type": "synonym"
                },
                {
                    "name": "CDHR16",
                    "type": "synonym"
                },
                {
                    "name": "HSCR1",
                    "type": "synonym"
                },
                {
                    "name": "MEN2A",
                    "type": "synonym"
                },
                {
                    "name": "MEN2B",
                    "type": "synonym"
                },
                {
                    "name": "MTC1",
                    "type": "synonym"
                },
                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "RET-ELE1",
                    "type": "synonym"
                },
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                    "name": "RET",
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            ],
            "record_id": "P07949-1",
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                {
                    "id": "155240",
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                },
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                    "id": "0050547",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050547"
                }
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        },
        {
            "uniprot_canonical_ac": "G3V9H8-1",
            "uniprot_ac": "G3V9H8",
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            "refseq_ac": "NP_036775",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Ret gene for receptor tyrosin",
                    "type": "synonym"
                },
                {
                    "name": "Ret proto-oncogene (multiple endocrine neoplasia MEN2A MEN2B and medullary thyroid carcinoma 1 Hirschsprung disease)",
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                {
                    "name": "proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor",
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                {
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            ],
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                    "name": "Ret",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Prolactin receptor",
                    "type": "recommended"
                },
                {
                    "name": "Lactogen receptor",
                    "type": "synonym"
                },
                {
                    "name": "PRL-R",
                    "type": "synonym"
                },
                {
                    "name": "lactogen receptor",
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                {
                    "name": "prolactin receptor isoform b precursor",
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            ],
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                    "name": "Prlr",
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                },
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                    "name": "PRLR",
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                },
                {
                    "name": "Prlr",
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                    "name": "RATPRLR",
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                    "id": "0050547",
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        },
        {
            "uniprot_canonical_ac": "Q7KT06-1",
            "uniprot_ac": "Q7KT06",
            "uniprot_id": "Q7KT06_DROME",
            "refseq_ac": "NP_477044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "2.7.10.1",
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                },
                {
                    "name": "CG14396-PA",
                    "type": "synonym"
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                {
                    "name": "Ret oncogene, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ret oncogene, isoform B",
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                },
                {
                    "name": "Ret oncogene, isoform C",
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                    "name": "Ret-PA",
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                    "name": "dret",
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                }
            ],
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                    "name": "Ret",
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                    "name": "CG1061",
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                },
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                    "name": "CG14396",
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                    "name": "D-ret",
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                {
                    "name": "DRET",
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                {
                    "name": "DRet",
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                    "name": "DmHD-59",
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                {
                    "name": "DmRet",
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                {
                    "name": "Dmel\\CG14396",
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                {
                    "name": "Dmel_CG14396",
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                {
                    "name": "Dret",
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                },
                {
                    "name": "HD-59",
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                },
                {
                    "name": "MEN2",
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                },
                {
                    "name": "RET",
                    "type": "synonym"
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                {
                    "name": "Reto",
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                {
                    "name": "Ret",
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                },
                {
                    "name": "dRET",
                    "type": "synonym"
                },
                {
                    "name": "dRet",
                    "type": "synonym"
                },
                {
                    "name": "dret",
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                    "name": "ret",
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            ],
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                }
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            "uniprot_canonical_ac": "P12104-1",
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                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acid-binding protein, intestinal",
                    "type": "recommended"
                },
                {
                    "name": "Fatty acid-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "I-FABP",
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                {
                    "name": "Intestinal-type fatty acid-binding protein",
                    "type": "synonym"
                },
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                    "name": "fatty acid binding protein 2, intestinal",
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                {
                    "name": "fatty acid-binding protein, intestinal",
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                {
                    "name": "intestinal-type fatty acid-binding protein",
                    "type": "synonym"
                }
            ],
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                    "name": "FABP2",
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                    "name": "FABPI",
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                    "id": "0050547",
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                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
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                }
            ],
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                    "name": "Prolactin receptor",
                    "type": "recommended"
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                    "name": "PRL-R",
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                },
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                    "name": "hPRL receptor",
                    "type": "synonym"
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                    "name": "prolactin receptor isoform 1 precursor",
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                {
                    "name": "secreted prolactin binding protein",
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                }
            ],
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                    "name": "PRLR",
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                    "name": "HPRL",
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                    "name": "MFAB",
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                },
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                    "name": "PRLR",
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                {
                    "name": "RI-PRLR",
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                {
                    "name": "hPRLrI",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050547"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050547"
}
