{
    "disease_id": "DOID:0081074",
    "recommended_name": {
        "id": "DOID:0081074",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081074",
        "name": "Teebi hypertelorism syndrome 2",
        "description": "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030674",
            "name": "Teebi hypertelorism syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0030674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030674",
            "name": "TBHS2",
            "description": ""
        },
        {
            "id": "MONDO:0030674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030674",
            "name": "Teebi hypertelorism syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:619736",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619736",
            "name": "Teebi hypertelorism syndrome 2",
            "description": "Teebi hypertelorism syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081074"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081074",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081074",
            "categories": []
        },
        {
            "id": "MONDO:0030674",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030674",
            "categories": []
        },
        {
            "id": "MIM:619736",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619736",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P55288-1",
            "uniprot_ac": "P55288",
            "uniprot_id": "CAD11_MOUSE",
            "refseq_ac": "NP_033996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-11",
                    "type": "recommended"
                },
                {
                    "name": "OB-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "OSF-4",
                    "type": "synonym"
                },
                {
                    "name": "Osteoblast cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-11 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "osteoblast cadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh11",
                    "type": "recommended"
                },
                {
                    "name": "Cad-11",
                    "type": "synonym"
                },
                {
                    "name": "Cad11",
                    "type": "synonym"
                },
                {
                    "name": "Cdh11",
                    "type": "synonym"
                },
                {
                    "name": "OSF-4",
                    "type": "synonym"
                }
            ],
            "record_id": "P55288-1",
            "evidence": [
                {
                    "id": "0081074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55287-1",
            "uniprot_ac": "P55287",
            "uniprot_id": "CAD11_HUMAN",
            "refseq_ac": "NP_001295321",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-11",
                    "type": "recommended"
                },
                {
                    "name": "OB-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "OSF-4",
                    "type": "synonym"
                },
                {
                    "name": "Osteoblast cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 11, type 2, OB-cadherin (osteoblast)",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-11 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDH11",
                    "type": "recommended"
                },
                {
                    "name": "CAD11",
                    "type": "synonym"
                },
                {
                    "name": "CDH11",
                    "type": "synonym"
                },
                {
                    "name": "CDHOB",
                    "type": "synonym"
                },
                {
                    "name": "ESWS",
                    "type": "synonym"
                },
                {
                    "name": "OB",
                    "type": "synonym"
                },
                {
                    "name": "OSF-4",
                    "type": "synonym"
                },
                {
                    "name": "TBHS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P55287-1",
            "evidence": [
                {
                    "id": "619736",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619736"
                },
                {
                    "id": "0081074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAH6-1",
            "uniprot_ac": "F1MAH6",
            "uniprot_id": "F1MAH6_RAT",
            "refseq_ac": "NP_445844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin 11",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-11 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh11",
                    "type": "recommended"
                },
                {
                    "name": "Cdh11",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAH6-1",
            "evidence": [
                {
                    "id": "0081074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24298-1",
            "uniprot_ac": "Q24298",
            "uniprot_id": "CADE_DROME",
            "refseq_ac": "NP_476722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DE-cadherin",
                    "type": "recommended"
                },
                {
                    "name": "CG3722-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin-E",
                    "type": "synonym"
                },
                {
                    "name": "D-Ecadherin",
                    "type": "synonym"
                },
                {
                    "name": "D-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "DCAD2",
                    "type": "synonym"
                },
                {
                    "name": "DE cadherin",
                    "type": "synonym"
                },
                {
                    "name": "DE-cadherin/Shotgun",
                    "type": "synonym"
                },
                {
                    "name": "DEcadherin",
                    "type": "synonym"
                },
                {
                    "name": "De-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "ECadherin",
                    "type": "synonym"
                },
                {
                    "name": "Protein shotgun",
                    "type": "synonym"
                },
                {
                    "name": "Shotgun/E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "compaction defects 5",
                    "type": "synonym"
                },
                {
                    "name": "drosophila E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "drosophila epithelial cadherin",
                    "type": "synonym"
                },
                {
                    "name": "drosophila melanogaster epithelial (DE)-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "e-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "eta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "shg-PA",
                    "type": "synonym"
                },
                {
                    "name": "shotgun",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shg",
                    "type": "recommended"
                },
                {
                    "name": "CADH",
                    "type": "synonym"
                },
                {
                    "name": "CG3722",
                    "type": "synonym"
                },
                {
                    "name": "CT12481",
                    "type": "synonym"
                },
                {
                    "name": "CadE",
                    "type": "synonym"
                },
                {
                    "name": "Cadh",
                    "type": "synonym"
                },
                {
                    "name": "Cad",
                    "type": "synonym"
                },
                {
                    "name": "D E-cad",
                    "type": "synonym"
                },
                {
                    "name": "D-CAD2",
                    "type": "synonym"
                },
                {
                    "name": "D-cad",
                    "type": "synonym"
                },
                {
                    "name": "DCAD2",
                    "type": "synonym"
                },
                {
                    "name": "DCAD",
                    "type": "synonym"
                },
                {
                    "name": "DCad2",
                    "type": "synonym"
                },
                {
                    "name": "DCad",
                    "type": "synonym"
                },
                {
                    "name": "DE Cadh",
                    "type": "synonym"
                },
                {
                    "name": "DE Cad",
                    "type": "synonym"
                },
                {
                    "name": "DE-CAD2",
                    "type": "synonym"
                },
                {
                    "name": "DE-CAD",
                    "type": "synonym"
                },
                {
                    "name": "DE-Cad2",
                    "type": "synonym"
                },
                {
                    "name": "DE-Cadherin",
                    "type": "synonym"
                },
                {
                    "name": "DE-Cadh",
                    "type": "synonym"
                },
                {
                    "name": "DE-Cad",
                    "type": "synonym"
                },
                {
                    "name": "DE-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "DE-cadh",
                    "type": "synonym"
                },
                {
                    "name": "DE-cad",
                    "type": "synonym"
                },
                {
                    "name": "DECAD",
                    "type": "synonym"
                },
                {
                    "name": "DECadh",
                    "type": "synonym"
                },
                {
                    "name": "DECad",
                    "type": "synonym"
                },
                {
                    "name": "DEC",
                    "type": "synonym"
                },
                {
                    "name": "DE[cyto]",
                    "type": "synonym"
                },
                {
                    "name": "DEcad",
                    "type": "synonym"
                },
                {
                    "name": "DE",
                    "type": "synonym"
                },
                {
                    "name": "De-Cad",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3722",
                    "type": "synonym"
                },
                {
                    "name": "E-CAD",
                    "type": "synonym"
                },
                {
                    "name": "E-Cadherin",
                    "type": "synonym"
                },
                {
                    "name": "E-Cadh",
                    "type": "synonym"
                },
                {
                    "name": "E-Cad",
                    "type": "synonym"
                },
                {
                    "name": "E-Ca",
                    "type": "synonym"
                },
                {
                    "name": "E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "E-cad",
                    "type": "synonym"
                },
                {
                    "name": "ECAD",
                    "type": "synonym"
                },
                {
                    "name": "ECad2",
                    "type": "synonym"
                },
                {
                    "name": "ECadherin",
                    "type": "synonym"
                },
                {
                    "name": "ECadh",
                    "type": "synonym"
                },
                {
                    "name": "ECad",
                    "type": "synonym"
                },
                {
                    "name": "Ecad",
                    "type": "synonym"
                },
                {
                    "name": "N-cad",
                    "type": "synonym"
                },
                {
                    "name": "Shg",
                    "type": "synonym"
                },
                {
                    "name": "Shotgun",
                    "type": "synonym"
                },
                {
                    "name": "cadh",
                    "type": "synonym"
                },
                {
                    "name": "cad",
                    "type": "synonym"
                },
                {
                    "name": "com5",
                    "type": "synonym"
                },
                {
                    "name": "dE-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "dEcad",
                    "type": "synonym"
                },
                {
                    "name": "de-cad",
                    "type": "synonym"
                },
                {
                    "name": "e-cad",
                    "type": "synonym"
                },
                {
                    "name": "ecad",
                    "type": "synonym"
                },
                {
                    "name": "gp150",
                    "type": "synonym"
                },
                {
                    "name": "l(2)10469",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k03401",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10220",
                    "type": "synonym"
                },
                {
                    "name": "shg/DE-Cad",
                    "type": "synonym"
                },
                {
                    "name": "shg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24298-1",
            "evidence": [
                {
                    "id": "0081074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081074"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081074"
}