{
    "disease_id": "DOID:0060474",
    "recommended_name": {
        "id": "DOID:0060474",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060474",
        "name": "familial erythrocytosis 2",
        "description": "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "Chuvash erythromatosis",
            "description": ""
        },
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "Chuvash polycythemia",
            "description": ""
        },
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "Chuvash type polycythemia",
            "description": ""
        },
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "ECYT2",
            "description": ""
        },
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "autosomal recessive benign erythrocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "Chuvash polycythemia",
            "description": "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death."
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "Chuvash polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "VHL familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "Von Hippel-Lindau-dependent polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "erythrocytosis, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "familial polycythemia caused by mutation in VHL",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "ECYT2",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "erythrocytosis, familial, 2",
            "description": ""
        },
        {
            "id": "MIM:263400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/263400",
            "name": "Erythrocytosis, familial, 2",
            "description": "Erythrocytosis, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060474"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060474",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "categories": []
        },
        {
            "id": "MONDO:0009892",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "categories": []
        },
        {
            "id": "MIM:263400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/263400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P40338-1",
            "uniprot_ac": "P40338",
            "uniprot_id": "VHL_MOUSE",
            "refseq_ac": "NP_033533",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Hippel-Lindau disease tumor suppressor",
                    "type": "recommended"
                },
                {
                    "name": "pVHL",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau disease tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau syndrome protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vhl",
                    "type": "recommended"
                },
                {
                    "name": "Vhlh",
                    "type": "synonym"
                },
                {
                    "name": "Vhl",
                    "type": "synonym"
                },
                {
                    "name": "pVHL",
                    "type": "synonym"
                }
            ],
            "record_id": "P40338-1",
            "evidence": [
                {
                    "id": "0060474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40337-1",
            "uniprot_ac": "P40337",
            "uniprot_id": "VHL_HUMAN",
            "refseq_ac": "NP_000542",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Hippel-Lindau disease tumor suppressor",
                    "type": "recommended"
                },
                {
                    "name": "Protein G7",
                    "type": "synonym"
                },
                {
                    "name": "elongin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "pVHL",
                    "type": "synonym"
                },
                {
                    "name": "protein G7",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau disease tumor suppressor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau disease tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VHL",
                    "type": "recommended"
                },
                {
                    "name": "HRCA1",
                    "type": "synonym"
                },
                {
                    "name": "RCA1",
                    "type": "synonym"
                },
                {
                    "name": "VHL1",
                    "type": "synonym"
                },
                {
                    "name": "VHL",
                    "type": "synonym"
                },
                {
                    "name": "pVHL",
                    "type": "synonym"
                }
            ],
            "record_id": "P40337-1",
            "evidence": [
                {
                    "id": "263400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/263400"
                },
                {
                    "id": "0060474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64259-1",
            "uniprot_ac": "Q64259",
            "uniprot_id": "VHL_RAT",
            "refseq_ac": "NP_434688",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Hippel-Lindau disease tumor suppressor",
                    "type": "recommended"
                },
                {
                    "name": "pVHL",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau disease tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau protein",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau syndrome homolog",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vhl",
                    "type": "recommended"
                },
                {
                    "name": "Vhlh",
                    "type": "synonym"
                },
                {
                    "name": "Vhl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64259-1",
            "evidence": [
                {
                    "id": "0060474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3C1-1",
            "uniprot_ac": "Q9V3C1",
            "uniprot_id": "VHL_DROME",
            "refseq_ac": "NP_001260885",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Vhl",
                    "type": "recommended"
                },
                {
                    "name": "CG13221-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vhl-PB",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "von hippel lindau protein",
                    "type": "synonym"
                },
                {
                    "name": "von hippel lindau",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vhl",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH61560",
                    "type": "synonym"
                },
                {
                    "name": "CG13221",
                    "type": "synonym"
                },
                {
                    "name": "DVhl",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13221",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13221",
                    "type": "synonym"
                },
                {
                    "name": "Dvhl",
                    "type": "synonym"
                },
                {
                    "name": "VHL",
                    "type": "synonym"
                },
                {
                    "name": "Vhl",
                    "type": "synonym"
                },
                {
                    "name": "d-VHL",
                    "type": "synonym"
                },
                {
                    "name": "d-vhl",
                    "type": "synonym"
                },
                {
                    "name": "dVHL",
                    "type": "synonym"
                },
                {
                    "name": "dmVHL",
                    "type": "synonym"
                },
                {
                    "name": "vhl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3C1-1",
            "evidence": [
                {
                    "id": "0060474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14926-1",
            "uniprot_ac": "O14926",
            "uniprot_id": "FSCN2_HUMAN",
            "refseq_ac": "NP_001070650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fascin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal fascin",
                    "type": "synonym"
                },
                {
                    "name": "fascin homolog 2, actin-bundling protein, retinal",
                    "type": "synonym"
                },
                {
                    "name": "fascin-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "fascin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FSCN2",
                    "type": "recommended"
                },
                {
                    "name": "FSCN2",
                    "type": "synonym"
                },
                {
                    "name": "RFSN",
                    "type": "synonym"
                },
                {
                    "name": "RP30",
                    "type": "synonym"
                }
            ],
            "record_id": "O14926-1",
            "evidence": [
                {
                    "id": "0060474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6RSH7-1",
            "uniprot_ac": "Q6RSH7",
            "uniprot_id": "VHLL_HUMAN",
            "refseq_ac": "NP_001004319",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Hippel-Lindau-like protein",
                    "type": "recommended"
                },
                {
                    "name": "VHL pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "VHL-like protein",
                    "type": "synonym"
                },
                {
                    "name": "VLP",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau tumor suppressor like",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VHLL",
                    "type": "recommended"
                },
                {
                    "name": "VHLL",
                    "type": "synonym"
                },
                {
                    "name": "VHLP",
                    "type": "synonym"
                },
                {
                    "name": "VLP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6RSH7-1",
            "evidence": [
                {
                    "id": "0060474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060474"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060474"
}