{
    "disease_id": "DOID:0050792",
    "recommended_name": {
        "id": "DOID:0050792",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050792",
        "name": "multiple cutaneous and mucosal venous malformations",
        "description": "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21."
    },
    "synonyms": [
        {
            "id": "DOID:0050792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050792",
            "name": "VMCM",
            "description": ""
        },
        {
            "id": "DOID:0050792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050792",
            "name": "mucocutaneous venous malformations",
            "description": ""
        },
        {
            "id": "DOID:0050792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050792",
            "name": "cutaneomucosal venous malformation",
            "description": ""
        },
        {
            "id": "MONDO:0010842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010842",
            "name": "multiple cutaneous and mucosal venous malformations",
            "description": "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa."
        },
        {
            "id": "MONDO:0010842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010842",
            "name": "VMCM",
            "description": ""
        },
        {
            "id": "MONDO:0010842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010842",
            "name": "cutaneous and mucosal venous malformation",
            "description": ""
        },
        {
            "id": "MONDO:0010842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010842",
            "name": "VENOUS malformations, multiple cutaneous and mucosal",
            "description": ""
        },
        {
            "id": "MIM:600195",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600195",
            "name": "Dominantly inherited venous malformations",
            "description": "Dominantly inherited venous malformations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050792"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050792",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050792",
            "categories": []
        },
        {
            "id": "MONDO:0010842",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010842",
            "categories": []
        },
        {
            "id": "MIM:600195",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600195",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O73791-1",
            "uniprot_ac": "O73791",
            "uniprot_id": "TIE2_DANRE",
            "refseq_ac": "NP_571536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiopoietin-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "TEK tyrosine kinase, endothelial",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase with Ig and EGF homology domains-2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor Tie-2",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-1 receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "endothelium-specific receptor tyrosine kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase with Ig and EGF homology domains-2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor Tie-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tek",
                    "type": "recommended"
                },
                {
                    "name": "tek",
                    "type": "synonym"
                },
                {
                    "name": "tie-2",
                    "type": "synonym"
                },
                {
                    "name": "tie2",
                    "type": "synonym"
                }
            ],
            "record_id": "O73791-1",
            "evidence": [
                {
                    "id": "0050792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02858-1",
            "uniprot_ac": "Q02858",
            "uniprot_id": "TIE2_MOUSE",
            "refseq_ac": "NP_001277478",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiopoietin-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "HYK",
                    "type": "synonym"
                },
                {
                    "name": "STK1",
                    "type": "synonym"
                },
                {
                    "name": "Tunica interna endothelial cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase with Ig and EGF homology domains-2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor TEK",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor TIE-2",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-1 receptor isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "endothelial tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "endothelial-specific receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "mTIE2",
                    "type": "synonym"
                },
                {
                    "name": "p140 TEK",
                    "type": "synonym"
                },
                {
                    "name": "tunica interna endothelial cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase with Ig and EGF homology domains-2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor TEK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor TIE-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tek",
                    "type": "recommended"
                },
                {
                    "name": "Cd202b",
                    "type": "synonym"
                },
                {
                    "name": "Hyk",
                    "type": "synonym"
                },
                {
                    "name": "STK1",
                    "type": "synonym"
                },
                {
                    "name": "Tek",
                    "type": "synonym"
                },
                {
                    "name": "Tie-2",
                    "type": "synonym"
                },
                {
                    "name": "Tie2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02858-1",
            "evidence": [
                {
                    "id": "0050792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02763-1",
            "uniprot_ac": "Q02763",
            "uniprot_id": "TIE2_HUMAN",
            "refseq_ac": "NP_000450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiopoietin-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "TEK tyrosine kinase, endothelial",
                    "type": "synonym"
                },
                {
                    "name": "Tunica interna endothelial cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase with Ig and EGF homology domains-2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor TEK",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor TIE-2",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-1 receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "endothelial tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "hTIE2",
                    "type": "synonym"
                },
                {
                    "name": "p140 TEK",
                    "type": "synonym"
                },
                {
                    "name": "tunica interna endothelial cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase with Ig and EGF homology domains-2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor TEK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor TIE-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TEK",
                    "type": "recommended"
                },
                {
                    "name": "CD202B",
                    "type": "synonym"
                },
                {
                    "name": "GLC3E",
                    "type": "synonym"
                },
                {
                    "name": "TEK",
                    "type": "synonym"
                },
                {
                    "name": "TIE-2",
                    "type": "synonym"
                },
                {
                    "name": "TIE2",
                    "type": "synonym"
                },
                {
                    "name": "VMCM1",
                    "type": "synonym"
                },
                {
                    "name": "VMCM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02763-1",
            "evidence": [
                {
                    "id": "600195",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600195"
                },
                {
                    "id": "0050792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZW61-1",
            "uniprot_ac": "A0A8I5ZW61",
            "uniprot_id": "A0A8I5ZW61_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiopoietin-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tunica interna endothelial cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase with Ig and EGF homology domains-2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor TEK",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor TIE-2",
                    "type": "synonym"
                },
                {
                    "name": "p140 TEK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tek",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZW61-1",
            "evidence": [
                {
                    "id": "0050792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050792"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050792"
}