{
    "disease_id": "DOID:0070666",
    "recommended_name": {
        "id": "DOID:0070666",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070666",
        "name": "infantile myofibromatosis 1",
        "description": "An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0009227",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009227",
            "name": "myofibromatosis, infantile, 1",
            "description": "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene."
        },
        {
            "id": "MONDO:0009227",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009227",
            "name": "PDGFRB myofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0009227",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009227",
            "name": "myofibromatosis caused by mutation in PDGFRB",
            "description": ""
        },
        {
            "id": "MONDO:0009227",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009227",
            "name": "myofibromatosis, infantile, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009227",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009227",
            "name": "myofibromatosis, infantile, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009227",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009227",
            "name": "IMF1",
            "description": ""
        },
        {
            "id": "MONDO:0009227",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009227",
            "name": "fibromatosis, congenital generalised",
            "description": ""
        },
        {
            "id": "MIM:228550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228550",
            "name": "Myofibromatosis, infantile 1",
            "description": "Myofibromatosis, infantile 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070666"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070666",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070666",
            "categories": []
        },
        {
            "id": "MONDO:0009227",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009227",
            "categories": []
        },
        {
            "id": "MIM:228550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/228550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QKL5-1",
            "uniprot_ac": "A0A8M9QKL5",
            "uniprot_id": "A0A8M9QKL5_DANRE",
            "refseq_ac": "XP_021336701",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet-derived growth factor receptor alpha",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Beta platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "CD140 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-derived growth factor receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor beta isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdgfrb",
                    "type": "recommended"
                },
                {
                    "name": "pdgfrb2",
                    "type": "synonym"
                },
                {
                    "name": "pdgfrb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QKL5-1",
            "evidence": [
                {
                    "id": "0070666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05622-1",
            "uniprot_ac": "P05622",
            "uniprot_id": "PGFRB_MOUSE",
            "refseq_ac": "NP_001139740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet-derived growth factor receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Beta platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "CD140 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "PDGF beta chain",
                    "type": "synonym"
                },
                {
                    "name": "PDGF-R-beta",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-beta",
                    "type": "synonym"
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                {
                    "name": "Platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "beta platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor beta isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdgfrb",
                    "type": "recommended"
                },
                {
                    "name": "CD140b",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "Pdgfr1",
                    "type": "synonym"
                },
                {
                    "name": "Pdgfrb",
                    "type": "synonym"
                },
                {
                    "name": "Pdgfr",
                    "type": "synonym"
                }
            ],
            "record_id": "P05622-1",
            "evidence": [
                {
                    "id": "0070666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09619-1",
            "uniprot_ac": "P09619",
            "uniprot_id": "PGFRB_HUMAN",
            "refseq_ac": "NP_002600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet-derived growth factor receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Activated tyrosine kinase PDGFRB",
                    "type": "synonym"
                },
                {
                    "name": "Beta platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "CD140 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "PDGF-R-beta",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor beta isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor, beta polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDGFRB",
                    "type": "recommended"
                },
                {
                    "name": "CD140B",
                    "type": "synonym"
                },
                {
                    "name": "IBGC4",
                    "type": "synonym"
                },
                {
                    "name": "IMF1",
                    "type": "synonym"
                },
                {
                    "name": "JTK12",
                    "type": "synonym"
                },
                {
                    "name": "KOGS",
                    "type": "synonym"
                },
                {
                    "name": "OPDKD",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR1",
                    "type": "synonym"
                },
                {
                    "name": "PDGFRB",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR",
                    "type": "synonym"
                },
                {
                    "name": "PENTT",
                    "type": "synonym"
                }
            ],
            "record_id": "P09619-1",
            "evidence": [
                {
                    "id": "228550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/228550"
                },
                {
                    "id": "0070666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05030-1",
            "uniprot_ac": "Q05030",
            "uniprot_id": "PGFRB_RAT",
            "refseq_ac": "NP_113713",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Platelet-derived growth factor receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Beta platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "CD140 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "PDGF-R-beta",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-derived growth factor receptor, beta",
                    "type": "synonym"
                },
                {
                    "name": "beta platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "platelet derived growth factor receptor, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor beta precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pdgfrb",
                    "type": "recommended"
                },
                {
                    "name": "PDGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "Pdgfr1",
                    "type": "synonym"
                },
                {
                    "name": "Pdgfrb",
                    "type": "synonym"
                },
                {
                    "name": "Pdgfr",
                    "type": "synonym"
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            ],
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                    "id": "0070666",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070666"
                }
            ]
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        {
            "uniprot_canonical_ac": "E1JHB7-1",
            "uniprot_ac": "E1JHB7",
            "uniprot_id": "E1JHB7_DROME",
            "refseq_ac": "NP_001162911",
            "glycoprotein": "yes",
            "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": "CG8222-PJ",
                    "type": "synonym"
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                {
                    "name": "PDGF receptor",
                    "type": "synonym"
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                {
                    "name": "PDGF- and VEGF receptor related",
                    "type": "synonym"
                },
                {
                    "name": "PDGF- and VEGF- receptor related",
                    "type": "synonym"
                },
                {
                    "name": "PDGF- and VEGF-Receptor related",
                    "type": "synonym"
                },
                {
                    "name": "PDGF- and VEGF-receptor related, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "PDGF- and VEGF-related receptor",
                    "type": "synonym"
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                {
                    "name": "PDGF/VEGF receptor",
                    "type": "synonym"
                },
                {
                    "name": "PVF receptor",
                    "type": "synonym"
                },
                {
                    "name": "Pvr-PJ",
                    "type": "synonym"
                },
                {
                    "name": "VEGF receptor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor/vascular endothelial growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "stasis",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor receptor-1 like",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor receptor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pvr",
                    "type": "recommended"
                },
                {
                    "name": "8222",
                    "type": "synonym"
                },
                {
                    "name": "CG8222",
                    "type": "synonym"
                },
                {
                    "name": "CT24332",
                    "type": "synonym"
                },
                {
                    "name": "DmVEGFR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8222",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8222",
                    "type": "synonym"
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                {
                    "name": "PVR",
                    "type": "synonym"
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                {
                    "name": "PvR",
                    "type": "synonym"
                },
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                    "name": "Pvr",
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                {
                    "name": "VEGFR-A",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR",
                    "type": "synonym"
                },
                {
                    "name": "VGR1",
                    "type": "synonym"
                },
                {
                    "name": "Vegfr-b",
                    "type": "synonym"
                },
                {
                    "name": "Vegfr-c",
                    "type": "synonym"
                },
                {
                    "name": "Vegfr",
                    "type": "synonym"
                },
                {
                    "name": "Vegf",
                    "type": "synonym"
                },
                {
                    "name": "Vgr1",
                    "type": "synonym"
                },
                {
                    "name": "pvr",
                    "type": "synonym"
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                {
                    "name": "stai",
                    "type": "synonym"
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                {
                    "name": "vgr1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070666",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070666"
                }
            ]
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        {
            "uniprot_canonical_ac": "P23588-1",
            "uniprot_ac": "P23588",
            "uniprot_id": "IF4B_HUMAN",
            "refseq_ac": "NP_001317583",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 4B",
                    "type": "recommended"
                },
                {
                    "name": "eIF-4B",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 4B isoform 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "EIF4B",
                    "type": "recommended"
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                {
                    "name": "EIF-4B",
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                {
                    "name": "EIF4B",
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                {
                    "name": "PRO1843",
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                {
                    "id": "0070666",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070666"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070666"
}