{
    "disease_id": "DOID:0070210",
    "recommended_name": {
        "id": "DOID:0070210",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070210",
        "name": "hereditary lymphedema IA",
        "description": "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "DOID:0070210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070210",
            "name": "LMPH1A",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "lymphatic malformation 1",
            "description": "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene."
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "FLT4 hereditary lymphedema",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "LMPH1A",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "Milroy disease",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "Nonne-Milroy disease",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "Nonne-Milroy lymphedema",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "Nonne-Milroy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "Nonnes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "congenital hereditary lymphedema",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "early onset lymphedema",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "hereditary lymphedema 1",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "hereditary lymphedema caused by mutation in FLT4",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "hereditary lymphedema type I",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "lymphedema, early-onset",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "lymphedema, hereditary, 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "lymphedema, hereditary, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "name": "primary congenital lymphedema",
            "description": ""
        },
        {
            "id": "MIM:153100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/153100",
            "name": "Lymphatic malformation 1",
            "description": "Lymphatic malformation 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070210"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070210",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070210",
            "categories": []
        },
        {
            "id": "MONDO:0007919",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007919",
            "categories": []
        },
        {
            "id": "MIM:153100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/153100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5MD89-1",
            "uniprot_ac": "Q5MD89",
            "uniprot_id": "VGFR3_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vascular endothelial growth factor receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flt4",
                    "type": "recommended"
                },
                {
                    "name": "VEGFR3",
                    "type": "synonym"
                },
                {
                    "name": "cb1059",
                    "type": "synonym"
                },
                {
                    "name": "flt-4",
                    "type": "synonym"
                },
                {
                    "name": "vegfr3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5MD89-1",
            "evidence": [
                {
                    "id": "0070210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35917-1",
            "uniprot_ac": "P35917",
            "uniprot_id": "VGFR3_MOUSE",
            "refseq_ac": "NP_032055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vascular endothelial growth factor receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FLT-4",
                    "type": "synonym"
                },
                {
                    "name": "Fms-like tyrosine kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor FLT4",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR-3",
                    "type": "synonym"
                },
                {
                    "name": "chylous ascites",
                    "type": "synonym"
                },
                {
                    "name": "receptor protein tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor FLT4",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor receptor 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor receptor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flt4",
                    "type": "recommended"
                },
                {
                    "name": "Chy",
                    "type": "synonym"
                },
                {
                    "name": "Flt-4",
                    "type": "synonym"
                },
                {
                    "name": "Flt4",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR-3",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR3",
                    "type": "synonym"
                },
                {
                    "name": "Vegfr3",
                    "type": "synonym"
                }
            ],
            "record_id": "P35917-1",
            "evidence": [
                {
                    "id": "0070210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35916-2",
            "uniprot_ac": "P35916",
            "uniprot_id": "VGFR3_HUMAN",
            "refseq_ac": "NP_002011",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vascular endothelial growth factor receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FLT-4",
                    "type": "synonym"
                },
                {
                    "name": "Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Fms-like tyrosine kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor FLT4",
                    "type": "synonym"
                },
                {
                    "name": "VEGF receptor-3",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR-3",
                    "type": "synonym"
                },
                {
                    "name": "fms related tyrosine kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "fms-like tyrosine kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "primary congenital lymphedema",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor FLT4",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor receptor 3 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor receptor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLT4",
                    "type": "recommended"
                },
                {
                    "name": "CHTD7",
                    "type": "synonym"
                },
                {
                    "name": "FLT-4",
                    "type": "synonym"
                },
                {
                    "name": "FLT41",
                    "type": "synonym"
                },
                {
                    "name": "FLT4",
                    "type": "synonym"
                },
                {
                    "name": "LMPH1A",
                    "type": "synonym"
                },
                {
                    "name": "LMPHM1",
                    "type": "synonym"
                },
                {
                    "name": "PCL",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR-3",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR3",
                    "type": "synonym"
                }
            ],
            "record_id": "P35916-2",
            "evidence": [
                {
                    "id": "153100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/153100"
                },
                {
                    "id": "0070210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZT1-1",
            "uniprot_ac": "Q91ZT1",
            "uniprot_id": "VGFR3_RAT",
            "refseq_ac": "NP_446104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vascular endothelial growth factor receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FLT-4",
                    "type": "synonym"
                },
                {
                    "name": "FMS-like tyrosine kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Fms-like tyrosine kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor FLT4",
                    "type": "synonym"
                },
                {
                    "name": "VEGFR-3",
                    "type": "synonym"
                },
                {
                    "name": "fms-related tyrosine kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor FLT4",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor receptor 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor receptor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flt4",
                    "type": "recommended"
                },
                {
                    "name": "Flt-4",
                    "type": "synonym"
                },
                {
                    "name": "Flt4",
                    "type": "synonym"
                },
                {
                    "name": "Vegfr3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZT1-1",
            "evidence": [
                {
                    "id": "0070210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17988-1",
            "uniprot_ac": "P17988",
            "uniprot_id": "ST1A1_RAT",
            "refseq_ac": "NP_114022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase 1A1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ASTIV",
                    "type": "synonym"
                },
                {
                    "name": "Aryl sulfotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "Aryl sulfotransferase cytosolic, 1A, phenol-preferring, member 3",
                    "type": "synonym"
                },
                {
                    "name": "Aryl sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Minoxidil sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Mx-ST",
                    "type": "synonym"
                },
                {
                    "name": "PST-1",
                    "type": "synonym"
                },
                {
                    "name": "Phenol sulfotransferase 1a1",
                    "type": "synonym"
                },
                {
                    "name": "Phenol sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "ST1A1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfokinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-ester sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "aryl sulfotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "minoxidil sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "sulfokinase",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 1A1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase family 1A, phenol-preferring, member 1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase family, cytosolic, 1A, phenol preferring",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1",
                    "type": "synonym"
                },
                {
                    "name": "sulphotransferase family cytosolic 1A phenol-prefering member 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-ester sulfotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sult1a1",
                    "type": "recommended"
                },
                {
                    "name": "ASTIV",
                    "type": "synonym"
                },
                {
                    "name": "Mx-ST",
                    "type": "synonym"
                },
                {
                    "name": "PST-1",
                    "type": "synonym"
                },
                {
                    "name": "St1a1",
                    "type": "synonym"
                },
                {
                    "name": "Stm",
                    "type": "synonym"
                },
                {
                    "name": "Stp1",
                    "type": "synonym"
                },
                {
                    "name": "Sult1a1",
                    "type": "synonym"
                },
                {
                    "name": "Sult1a3",
                    "type": "synonym"
                }
            ],
            "record_id": "P17988-1",
            "evidence": [
                {
                    "id": "0070210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070210"
                }
            ]
        },
        {
            "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]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG8222-PJ",
                    "type": "synonym"
                },
                {
                    "name": "PDGF receptor",
                    "type": "synonym"
                },
                {
                    "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"
                },
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "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"
                },
                {
                    "name": "PVR",
                    "type": "synonym"
                },
                {
                    "name": "PvR",
                    "type": "synonym"
                },
                {
                    "name": "Pvr",
                    "type": "synonym"
                },
                {
                    "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"
                },
                {
                    "name": "stai",
                    "type": "synonym"
                },
                {
                    "name": "vgr1",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JHB7-1",
            "evidence": [
                {
                    "id": "0070210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070210"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070210"
}
