{
    "disease_id": "DOID:0070209",
    "recommended_name": {
        "id": "DOID:0070209",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070209",
        "name": "hereditary lymphedema ID",
        "description": "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34."
    },
    "synonyms": [
        {
            "id": "DOID:0070209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070209",
            "name": "LMPH1D",
            "description": ""
        },
        {
            "id": "MONDO:0014393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014393",
            "name": "lymphatic malformation 4",
            "description": "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene."
        },
        {
            "id": "MONDO:0014393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014393",
            "name": "VEGFC hereditary lymphedema",
            "description": ""
        },
        {
            "id": "MONDO:0014393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014393",
            "name": "hereditary lymphedema caused by mutation in VEGFC",
            "description": ""
        },
        {
            "id": "MONDO:0014393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014393",
            "name": "lymphedema, hereditary, 1D",
            "description": ""
        },
        {
            "id": "MONDO:0014393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014393",
            "name": "lymphedema, hereditary, type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0014393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014393",
            "name": "LMPH1D",
            "description": ""
        },
        {
            "id": "MIM:615907",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615907",
            "name": "Lymphatic malformation 4",
            "description": "Lymphatic malformation 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070209"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070209",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070209",
            "categories": []
        },
        {
            "id": "MONDO:0014393",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014393",
            "categories": []
        },
        {
            "id": "MIM:615907",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615907",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97953-1",
            "uniprot_ac": "P97953",
            "uniprot_id": "VEGFC_MOUSE",
            "refseq_ac": "NP_033532",
            "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 C",
                    "type": "recommended"
                },
                {
                    "name": "Flt4 ligand",
                    "type": "synonym"
                },
                {
                    "name": "Flt4-L",
                    "type": "synonym"
                },
                {
                    "name": "VEGF-C",
                    "type": "synonym"
                },
                {
                    "name": "VRP",
                    "type": "synonym"
                },
                {
                    "name": "Vascular endothelial growth factor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "flt4 ligand",
                    "type": "synonym"
                },
                {
                    "name": "flt4-L",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor C precursor",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vegfc",
                    "type": "recommended"
                },
                {
                    "name": "VEGF-C",
                    "type": "synonym"
                },
                {
                    "name": "Vegfc",
                    "type": "synonym"
                }
            ],
            "record_id": "P97953-1",
            "evidence": [
                {
                    "id": "0070209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49767-1",
            "uniprot_ac": "P49767",
            "uniprot_id": "VEGFC_HUMAN",
            "refseq_ac": "NP_005420",
            "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 C",
                    "type": "recommended"
                },
                {
                    "name": "FLT4 ligand DHM",
                    "type": "synonym"
                },
                {
                    "name": "Flt4 ligand",
                    "type": "synonym"
                },
                {
                    "name": "Flt4-L",
                    "type": "synonym"
                },
                {
                    "name": "VEGF-C",
                    "type": "synonym"
                },
                {
                    "name": "VRP",
                    "type": "synonym"
                },
                {
                    "name": "Vascular endothelial growth factor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor C preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VEGFC",
                    "type": "recommended"
                },
                {
                    "name": "Flt4-L",
                    "type": "synonym"
                },
                {
                    "name": "LMPH1D",
                    "type": "synonym"
                },
                {
                    "name": "LMPHM4",
                    "type": "synonym"
                },
                {
                    "name": "VEGFC",
                    "type": "synonym"
                },
                {
                    "name": "VRP",
                    "type": "synonym"
                }
            ],
            "record_id": "P49767-1",
            "evidence": [
                {
                    "id": "615907",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615907"
                },
                {
                    "id": "0070209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35757-1",
            "uniprot_ac": "O35757",
            "uniprot_id": "VEGFC_RAT",
            "refseq_ac": "NP_446105",
            "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 C",
                    "type": "recommended"
                },
                {
                    "name": "Flt4 ligand",
                    "type": "synonym"
                },
                {
                    "name": "Flt4-L",
                    "type": "synonym"
                },
                {
                    "name": "VEGF-C",
                    "type": "synonym"
                },
                {
                    "name": "VRP",
                    "type": "synonym"
                },
                {
                    "name": "Vascular endothelial growth factor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "flt4 ligand",
                    "type": "synonym"
                },
                {
                    "name": "flt4-L",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor C precursor",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vegfc",
                    "type": "recommended"
                },
                {
                    "name": "Vegfc",
                    "type": "synonym"
                }
            ],
            "record_id": "O35757-1",
            "evidence": [
                {
                    "id": "0070209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070209"
}
