{
    "disease_id": "DOID:0081030",
    "recommended_name": {
        "id": "DOID:0081030",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081030",
        "name": "central conducting lymphatic anomaly",
        "description": "A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081030",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081030",
            "name": "lymphatic malformation-7",
            "description": ""
        },
        {
            "id": "MONDO:0015009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015009",
            "name": "lymphatic malformation 7",
            "description": ""
        },
        {
            "id": "MONDO:0015009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015009",
            "name": "HFASD",
            "description": ""
        },
        {
            "id": "MONDO:0015009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015009",
            "name": "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0015009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015009",
            "name": "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD",
            "description": ""
        },
        {
            "id": "MONDO:0031043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031043",
            "name": "lymphatic malformation 12",
            "description": ""
        },
        {
            "id": "MONDO:0031043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031043",
            "name": "LMPHM12",
            "description": ""
        },
        {
            "id": "MONDO:0031043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031043",
            "name": "central conducting lymphatic anomaly",
            "description": ""
        },
        {
            "id": "MONDO:0031043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031043",
            "name": "lymphatic malformation 12",
            "description": ""
        },
        {
            "id": "MIM:617300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617300",
            "name": "Lymphatic malformation 7",
            "description": "Lymphatic malformation 7"
        },
        {
            "id": "MIM:620014",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620014",
            "name": "Lymphatic malformation 12",
            "description": "Lymphatic malformation 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081030"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081030",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081030",
            "categories": []
        },
        {
            "id": "MONDO:0015009",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015009",
            "categories": []
        },
        {
            "id": "MONDO:0031043",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031043",
            "categories": []
        },
        {
            "id": "MIM:617300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617300",
            "categories": []
        },
        {
            "id": "MIM:620014",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620014",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O73875-1",
            "uniprot_ac": "O73875",
            "uniprot_id": "EPB4A_DANRE",
            "refseq_ac": "NP_571489",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-B receptor 4a",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Eph receptor B4a",
                    "type": "synonym"
                },
                {
                    "name": "Eph-like receptor tyrosine kinase rtk5",
                    "type": "synonym"
                },
                {
                    "name": "eph-like receptor tyrosine kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "eph-like receptor tyrosine kinase rtk5",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4 pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4a precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ephb4a",
                    "type": "recommended"
                },
                {
                    "name": "cb646",
                    "type": "synonym"
                },
                {
                    "name": "ephB4",
                    "type": "synonym"
                },
                {
                    "name": "ephb4a",
                    "type": "synonym"
                },
                {
                    "name": "rtk5",
                    "type": "synonym"
                }
            ],
            "record_id": "O73875-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O73878-1",
            "uniprot_ac": "O73878",
            "uniprot_id": "EPB4B_DANRE",
            "refseq_ac": "NP_571492",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-B receptor 4b",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Eph receptor B4b",
                    "type": "synonym"
                },
                {
                    "name": "Eph-like receptor tyrosine kinase rtk8",
                    "type": "synonym"
                },
                {
                    "name": "eph-like receptor tyrosine kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "eph-like receptor tyrosine kinase rtk8",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4b precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4b",
                    "type": "synonym"
                },
                {
                    "name": "unp164",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ephb4b",
                    "type": "recommended"
                },
                {
                    "name": "EphB-rtk8",
                    "type": "synonym"
                },
                {
                    "name": "cb417",
                    "type": "synonym"
                },
                {
                    "name": "ephb4b",
                    "type": "synonym"
                },
                {
                    "name": "rtk8",
                    "type": "synonym"
                }
            ],
            "record_id": "O73878-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F6NQ15-1",
            "uniprot_ac": "F6NQ15",
            "uniprot_id": "F6NQ15_DANRE",
            "refseq_ac": "NP_001314942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "MyoD family inhibitor domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "myoD family inhibitor domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mdfic",
                    "type": "recommended"
                },
                {
                    "name": "mdfic",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-262n1.4",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NQ15-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BX65-1",
            "uniprot_ac": "Q8BX65",
            "uniprot_id": "MDFIC_MOUSE",
            "refseq_ac": "NP_780297",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "MyoD family inhibitor domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "I-mfa domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Kidney cell line-derived transcript 1",
                    "type": "synonym"
                },
                {
                    "name": "kidney cell line-derived transcript 1",
                    "type": "synonym"
                },
                {
                    "name": "myoD family inhibitor domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdfic",
                    "type": "recommended"
                },
                {
                    "name": "Kdt1",
                    "type": "synonym"
                },
                {
                    "name": "Mdfic",
                    "type": "synonym"
                },
                {
                    "name": "Mdfid",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BX65-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54761-1",
            "uniprot_ac": "P54761",
            "uniprot_id": "EPHB4_MOUSE",
            "refseq_ac": "NP_034274",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-B receptor 4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Developmental kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Hepatoma transmembrane kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase MYK-1",
                    "type": "synonym"
                },
                {
                    "name": "developmental kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "hepatoma transmembrane kinase",
                    "type": "synonym"
                },
                {
                    "name": "mDK-2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase MYK-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ephb4",
                    "type": "recommended"
                },
                {
                    "name": "Ephb4",
                    "type": "synonym"
                },
                {
                    "name": "Htk",
                    "type": "synonym"
                },
                {
                    "name": "MDK2",
                    "type": "synonym"
                },
                {
                    "name": "Mdk2",
                    "type": "synonym"
                },
                {
                    "name": "Myk1",
                    "type": "synonym"
                },
                {
                    "name": "Tyro11",
                    "type": "synonym"
                },
                {
                    "name": "b2b2412Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "P54761-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54760-1",
            "uniprot_ac": "P54760",
            "uniprot_id": "EPHB4_HUMAN",
            "refseq_ac": "NP_004435",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-B receptor 4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Hepatoma transmembrane kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase TYRO11",
                    "type": "synonym"
                },
                {
                    "name": "ephrin receptor EphB4",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "hepatoma transmembrane kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase TYRO11",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor HTK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPHB4",
                    "type": "recommended"
                },
                {
                    "name": "CMAVM2",
                    "type": "synonym"
                },
                {
                    "name": "EPHB4",
                    "type": "synonym"
                },
                {
                    "name": "HFASD",
                    "type": "synonym"
                },
                {
                    "name": "HTK",
                    "type": "synonym"
                },
                {
                    "name": "LMPHM7",
                    "type": "synonym"
                },
                {
                    "name": "MYK1",
                    "type": "synonym"
                },
                {
                    "name": "TYRO11",
                    "type": "synonym"
                }
            ],
            "record_id": "P54760-1",
            "evidence": [
                {
                    "id": "617300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617300"
                },
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P1T7-2",
            "uniprot_ac": "Q9P1T7",
            "uniprot_id": "MDFIC_HUMAN",
            "refseq_ac": "NP_001159817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "MyoD family inhibitor domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "I-mfa domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "hIC",
                    "type": "synonym"
                },
                {
                    "name": "myoD family inhibitor domain-containing protein isoform p32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MDFIC",
                    "type": "recommended"
                },
                {
                    "name": "HIC",
                    "type": "synonym"
                },
                {
                    "name": "LMPHM12",
                    "type": "synonym"
                },
                {
                    "name": "MDFIC1",
                    "type": "synonym"
                },
                {
                    "name": "MDFIC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P1T7-2",
            "evidence": [
                {
                    "id": "620014",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620014"
                },
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RDA4-1",
            "uniprot_ac": "M0RDA4",
            "uniprot_id": "M0RDA4_RAT",
            "refseq_ac": "XP_003751205",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-B receptor 4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Hepatoma transmembrane kinase",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-B receptor 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ephb4",
                    "type": "recommended"
                },
                {
                    "name": "Ephb4",
                    "type": "synonym"
                },
                {
                    "name": "LOC686310",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RDA4-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVM7-1",
            "uniprot_ac": "D3ZVM7",
            "uniprot_id": "D3ZVM7_RAT",
            "refseq_ac": "NP_001099138",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MyoD family inhibitor domain containing protein",
                    "type": "synonym"
                },
                {
                    "name": "MyoD family inhibitor domain containing",
                    "type": "synonym"
                },
                {
                    "name": "kidney cell line derived transcript 1",
                    "type": "synonym"
                },
                {
                    "name": "myoD family inhibitor domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdfic",
                    "type": "recommended"
                },
                {
                    "name": "Kdt1",
                    "type": "synonym"
                },
                {
                    "name": "Mdfic",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZVM7-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05696-1",
            "uniprot_ac": "P05696",
            "uniprot_id": "KPCA_RAT",
            "refseq_ac": "NP_001386228",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C alpha type",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "PKC-A",
                    "type": "synonym"
                },
                {
                    "name": "PKC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C alpha type isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C alpha type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkca",
                    "type": "recommended"
                },
                {
                    "name": "Pkca",
                    "type": "synonym"
                },
                {
                    "name": "Prkca",
                    "type": "synonym"
                }
            ],
            "record_id": "P05696-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4E5-1",
            "uniprot_ac": "Q9V4E5",
            "uniprot_id": "Q9V4E5_DROME",
            "refseq_ac": "NP_524625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein-tyrosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG1511-PC",
                    "type": "synonym"
                },
                {
                    "name": "Eph kinase",
                    "type": "synonym"
                },
                {
                    "name": "Eph receptor tyrosine kinase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Eph receptor",
                    "type": "synonym"
                },
                {
                    "name": "Eph-PC",
                    "type": "synonym"
                },
                {
                    "name": "Erythropoietin-producing human",
                    "type": "synonym"
                },
                {
                    "name": "drosophila eph",
                    "type": "synonym"
                },
                {
                    "name": "ephrin receptors",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma cell line",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eph",
                    "type": "recommended"
                },
                {
                    "name": "CG1511",
                    "type": "synonym"
                },
                {
                    "name": "CT3831",
                    "type": "synonym"
                },
                {
                    "name": "DEK",
                    "type": "synonym"
                },
                {
                    "name": "Dek7",
                    "type": "synonym"
                },
                {
                    "name": "Dek",
                    "type": "synonym"
                },
                {
                    "name": "Deph",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1511",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1511",
                    "type": "synonym"
                },
                {
                    "name": "EPH",
                    "type": "synonym"
                },
                {
                    "name": "Ek7",
                    "type": "synonym"
                },
                {
                    "name": "Eph",
                    "type": "synonym"
                },
                {
                    "name": "RPTK Dek7",
                    "type": "synonym"
                },
                {
                    "name": "dek",
                    "type": "synonym"
                },
                {
                    "name": "eph",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.923",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4E5-1",
            "evidence": [
                {
                    "id": "0081030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081030"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081030"
}