{
    "disease_id": "DOID:0060560",
    "recommended_name": {
        "id": "DOID:0060560",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060560",
        "name": "lethal congenital contracture syndrome 2",
        "description": "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060560",
            "name": "multiple contracture syndrome, Israeli-Bedouin type",
            "description": ""
        },
        {
            "id": "DOID:0060560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060560",
            "name": "LCCS2",
            "description": ""
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "lethal congenital contracture syndrome 2",
            "description": "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported."
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "ERBB3 lethal congenital contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "LCCS2",
            "description": ""
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "lethal congenital contractural syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "lethal congenital contracture syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "lethal congenital contracture syndrome caused by mutation in ERBB3",
            "description": ""
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "lethal congenital contracture syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "multiple contracture syndrome, Israeli-Bedouin type",
            "description": ""
        },
        {
            "id": "MONDO:0011868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "name": "multiple contracture syndrome, Israeli Bedouin type",
            "description": ""
        },
        {
            "id": "MIM:607598",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607598",
            "name": "Lethal congenital contracture syndrome 2",
            "description": "Lethal congenital contracture syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060560"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060560",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060560",
            "categories": []
        },
        {
            "id": "MONDO:0011868",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011868",
            "categories": []
        },
        {
            "id": "MIM:607598",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607598",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BD22-1",
            "uniprot_ac": "A0A8M2BD22",
            "uniprot_id": "A0A8M2BD22_DANRE",
            "refseq_ac": "XP_005165758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor protein-tyrosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine-protein kinase erbB-3a isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "erbb3a",
                    "type": "recommended"
                },
                {
                    "name": "ERBB",
                    "type": "synonym"
                },
                {
                    "name": "erbb3a",
                    "type": "synonym"
                },
                {
                    "name": "erbb3",
                    "type": "synonym"
                },
                {
                    "name": "im:7148890",
                    "type": "synonym"
                },
                {
                    "name": "si:dz150i12.1",
                    "type": "synonym"
                },
                {
                    "name": "v-erb-b",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1N4R3-1",
            "uniprot_ac": "A0A8M1N4R3",
            "uniprot_id": "A0A8M1N4R3_DANRE",
            "refseq_ac": "NP_001014826",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "name": "Receptor protein-tyrosine kinase",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "FU and PTK_HER3 domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "hps",
                    "type": "synonym"
                },
                {
                    "name": "hypersensitive",
                    "type": "synonym"
                },
                {
                    "name": "pcs",
                    "type": "synonym"
                },
                {
                    "name": "picasso",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine-protein kinase erbB-3b precursor",
                    "type": "synonym"
                },
                {
                    "name": "v-erb-b2 erythroblastic leukemia viral oncogene homolog 3b",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "erbb3b",
                    "type": "recommended"
                },
                {
                    "name": "erbb3b",
                    "type": "synonym"
                },
                {
                    "name": "erbb3",
                    "type": "synonym"
                }
            ],
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                    "id": "0060560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61526-1",
            "uniprot_ac": "Q61526",
            "uniprot_id": "ERBB3_MOUSE",
            "refseq_ac": "NP_034283",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor tyrosine-protein kinase erbB-3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Glial growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene-like protein c-ErbB-3",
                    "type": "synonym"
                },
                {
                    "name": "avian erythroblastosis oncogene B 3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "c-erbB-3",
                    "type": "synonym"
                },
                {
                    "name": "glial growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene-like protein c-ErbB-3",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine-protein kinase erbB-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine-protein kinase erbB-3",
                    "type": "synonym"
                },
                {
                    "name": "v-erb-b2 erythroblastic leukemia viral oncogene homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erbb3",
                    "type": "recommended"
                },
                {
                    "name": "Erbb-3",
                    "type": "synonym"
                },
                {
                    "name": "Erbb3r",
                    "type": "synonym"
                },
                {
                    "name": "Erbb3",
                    "type": "synonym"
                },
                {
                    "name": "Her3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61526-1",
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                {
                    "id": "0060560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21860-1",
            "uniprot_ac": "P21860",
            "uniprot_id": "ERBB3_HUMAN",
            "refseq_ac": "NP_001005915",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor tyrosine-protein kinase erbB-3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene-like protein c-ErbB-3",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase-type cell surface receptor HER3",
                    "type": "synonym"
                },
                {
                    "name": "human epidermal growth factor receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene-like protein c-ErbB-3",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine-protein kinase erbB-3 isoform s precursor",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine-protein kinase erbB-3",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase-type cell surface receptor HER3",
                    "type": "synonym"
                },
                {
                    "name": "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERBB3",
                    "type": "recommended"
                },
                {
                    "name": "ERBB3",
                    "type": "synonym"
                },
                {
                    "name": "ErbB-3",
                    "type": "synonym"
                },
                {
                    "name": "FERLK",
                    "type": "synonym"
                },
                {
                    "name": "HER3",
                    "type": "synonym"
                },
                {
                    "name": "LCCS2",
                    "type": "synonym"
                },
                {
                    "name": "MDA-BF-1",
                    "type": "synonym"
                },
                {
                    "name": "VSCN1",
                    "type": "synonym"
                },
                {
                    "name": "c-erbB-3",
                    "type": "synonym"
                },
                {
                    "name": "c-erbB3",
                    "type": "synonym"
                },
                {
                    "name": "erbB3-S",
                    "type": "synonym"
                },
                {
                    "name": "p180-ErbB3",
                    "type": "synonym"
                },
                {
                    "name": "p45-sErbB3",
                    "type": "synonym"
                },
                {
                    "name": "p85-sErbB3",
                    "type": "synonym"
                }
            ],
            "record_id": "P21860-1",
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                {
                    "id": "607598",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607598"
                },
                {
                    "id": "0060560",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62799-1",
            "uniprot_ac": "Q62799",
            "uniprot_id": "ERBB3_RAT",
            "refseq_ac": "NP_058914",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor tyrosine-protein kinase erbB-3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
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                {
                    "name": "Proto-oncogene-like protein c-ErbB-3",
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                },
                {
                    "name": "avian erythroblastosis oncogene B 3",
                    "type": "synonym"
                },
                {
                    "name": "c-erbB-3",
                    "type": "synonym"
                },
                {
                    "name": "c-erbB3",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene-like protein c-ErbB-3",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine-protein kinase erbB-3 precursor",
                    "type": "synonym"
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                {
                    "name": "receptor tyrosine-protein kinase erbB-3",
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                },
                {
                    "name": "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "v-erb-b2 erythroblastic leukemia viral oncogene homolog 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Erbb3",
                    "type": "recommended"
                },
                {
                    "name": "Erbb3",
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                },
                {
                    "name": "nuc-ErbB3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060560"
                }
            ]
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            "uniprot_canonical_ac": "Q63471-1",
            "uniprot_ac": "Q63471",
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            "refseq_ac": "NP_434695",
            "glycoprotein": "no",
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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": "BPI fold-containing family A member 2",
                    "type": "recommended"
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                {
                    "name": "BPI fold containing family A, member 2E",
                    "type": "synonym"
                },
                {
                    "name": "BPI fold-containing family A member 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Neonatal submandibular gland protein",
                    "type": "synonym"
                },
                {
                    "name": "PSP",
                    "type": "synonym"
                },
                {
                    "name": "Parotid secretory protein",
                    "type": "synonym"
                },
                {
                    "name": "neonatal submandibular gland protein",
                    "type": "synonym"
                },
                {
                    "name": "parotid secretory protein",
                    "type": "synonym"
                },
                {
                    "name": "short palate, lung and nasal epithelium carcinoma-associated protein 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Bpifa2",
                    "type": "recommended"
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                {
                    "name": "Bpifa2e",
                    "type": "synonym"
                },
                {
                    "name": "Bpifa2",
                    "type": "synonym"
                },
                {
                    "name": "Psp",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04412-1",
            "uniprot_ac": "P04412",
            "uniprot_id": "EGFR_DROME",
            "refseq_ac": "NP_476759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epidermal growth factor receptor",
                    "type": "recommended"
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                    "name": "2.7.10.1",
                    "type": "synonym"
                },
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                    "name": "CG10079-PB",
                    "type": "synonym"
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                    "name": "DER-Ellipse",
                    "type": "synonym"
                },
                {
                    "name": "Drosophila relative of ERBB",
                    "type": "synonym"
                },
                {
                    "name": "EGF-receptor",
                    "type": "synonym"
                },
                {
                    "name": "EGFR",
                    "type": "synonym"
                },
                {
                    "name": "Egf receptor",
                    "type": "synonym"
                },
                {
                    "name": "Egfr-PB",
                    "type": "synonym"
                },
                {
                    "name": "Egfr",
                    "type": "synonym"
                },
                {
                    "name": "Gurken receptor",
                    "type": "synonym"
                },
                {
                    "name": "Protein torpedo",
                    "type": "synonym"
                },
                {
                    "name": "dEGFR",
                    "type": "synonym"
                },
                {
                    "name": "drosophila epidermal growth factor receptor homologue",
                    "type": "synonym"
                },
                {
                    "name": "ellipse torpedo",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "faint little ball",
                    "type": "synonym"
                },
                {
                    "name": "morphological defects 1",
                    "type": "synonym"
                },
                {
                    "name": "torpedo/DER",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Egfr",
                    "type": "recommended"
                },
                {
                    "name": "C-erb",
                    "type": "synonym"
                },
                {
                    "name": "CG10079",
                    "type": "synonym"
                },
                {
                    "name": "D-EGFR",
                    "type": "synonym"
                },
                {
                    "name": "D-Egf",
                    "type": "synonym"
                },
                {
                    "name": "DEGFR",
                    "type": "synonym"
                },
                {
                    "name": "DER flb",
                    "type": "synonym"
                },
                {
                    "name": "DER/EGFR",
                    "type": "synonym"
                },
                {
                    "name": "DER/top",
                    "type": "synonym"
                },
                {
                    "name": "DER/torpedo",
                    "type": "synonym"
                },
                {
                    "name": "DER1",
                    "type": "synonym"
                },
                {
                    "name": "DER",
                    "type": "synonym"
                },
                {
                    "name": "DEgfr",
                    "type": "synonym"
                },
                {
                    "name": "Degfr",
                    "type": "synonym"
                },
                {
                    "name": "Der",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-33",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10079",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10079",
                    "type": "synonym"
                },
                {
                    "name": "EC2-4",
                    "type": "synonym"
                },
                {
                    "name": "EFG-R",
                    "type": "synonym"
                },
                {
                    "name": "EGF-R",
                    "type": "synonym"
                },
                {
                    "name": "EGFR",
                    "type": "synonym"
                },
                {
                    "name": "EGFr",
                    "type": "synonym"
                },
                {
                    "name": "EGF",
                    "type": "synonym"
                },
                {
                    "name": "EGfr",
                    "type": "synonym"
                },
                {
                    "name": "EK2-6",
                    "type": "synonym"
                },
                {
                    "name": "EgFr",
                    "type": "synonym"
                },
                {
                    "name": "Egf-r",
                    "type": "synonym"
                },
                {
                    "name": "EgfR",
                    "type": "synonym"
                },
                {
                    "name": "Egfr",
                    "type": "synonym"
                },
                {
                    "name": "Egf",
                    "type": "synonym"
                },
                {
                    "name": "Elp-1",
                    "type": "synonym"
                },
                {
                    "name": "Elp-B1RB1",
                    "type": "synonym"
                },
                {
                    "name": "Elp-B1",
                    "type": "synonym"
                },
                {
                    "name": "Elp",
                    "type": "synonym"
                },
                {
                    "name": "El",
                    "type": "synonym"
                },
                {
                    "name": "HD-33",
                    "type": "synonym"
                },
                {
                    "name": "TOP",
                    "type": "synonym"
                },
                {
                    "name": "Top",
                    "type": "synonym"
                },
                {
                    "name": "Torpedo/DER",
                    "type": "synonym"
                },
                {
                    "name": "Torpedo/Egfr",
                    "type": "synonym"
                },
                {
                    "name": "Torpedo",
                    "type": "synonym"
                },
                {
                    "name": "c-erbB",
                    "type": "synonym"
                },
                {
                    "name": "d-egf-r",
                    "type": "synonym"
                },
                {
                    "name": "dEGFR1",
                    "type": "synonym"
                },
                {
                    "name": "dEGFR",
                    "type": "synonym"
                },
                {
                    "name": "dEGFr",
                    "type": "synonym"
                },
                {
                    "name": "dEgfr",
                    "type": "synonym"
                },
                {
                    "name": "degfr",
                    "type": "synonym"
                },
                {
                    "name": "der",
                    "type": "synonym"
                },
                {
                    "name": "egfr",
                    "type": "synonym"
                },
                {
                    "name": "flb",
                    "type": "synonym"
                },
                {
                    "name": "l(2)05351",
                    "type": "synonym"
                },
                {
                    "name": "l(2)09261",
                    "type": "synonym"
                },
                {
                    "name": "l(2)57DEFa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)57EFa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)57Ea",
                    "type": "synonym"
                },
                {
                    "name": "mor1",
                    "type": "synonym"
                },
                {
                    "name": "top/DER",
                    "type": "synonym"
                },
                {
                    "name": "top/flb",
                    "type": "synonym"
                },
                {
                    "name": "top",
                    "type": "synonym"
                },
                {
                    "name": "torpedo/Egfr",
                    "type": "synonym"
                },
                {
                    "name": "torpedo/egfr",
                    "type": "synonym"
                },
                {
                    "name": "torpedo",
                    "type": "synonym"
                }
            ],
            "record_id": "P04412-1",
            "evidence": [
                {
                    "id": "0060560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060560"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060560"
}