{
    "disease_id": "DOID:0060773",
    "recommended_name": {
        "id": "DOID:0060773",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060773",
        "name": "cleft lip-palate-ectodermal dysplasia syndrome",
        "description": "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060773",
            "name": "CLPED1",
            "description": ""
        },
        {
            "id": "DOID:0060773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060773",
            "name": "Margarita type of ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060773",
            "name": "Zlotogora-Zilberman-Tenenbaum syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060773",
            "name": "cleft lip/palate-syndactyly-pili torti syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060773",
            "name": "syndactyly-ectodermal dysplasia-cleft/lip palate",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "cleft lip/palate-ectodermal dysplasia syndrome",
            "description": "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability."
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "Zlotogora-Ogur syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "cleft lip/palate-ectodermal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "cleft lip/palate-syndactyly-pili torti syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "syndactyly-ectodermal dysplasia-cleft/lip palate",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "Bustos Simosa pinto Cisternas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "CLEPD",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "CLPED1",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "ED4",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "Zlotogora syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "autosomal recessive ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "cleft lip/palate-syndactyly-pili torti",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "ectodermal dysplasia margarita island type",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "ectodermal dysplasia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0009151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "name": "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly",
            "description": ""
        },
        {
            "id": "MIM:225060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225060",
            "name": "Ectodermal dysplasia, Margarita Island type",
            "description": "Ectodermal dysplasia, Margarita Island type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060773"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060773",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060773",
            "categories": []
        },
        {
            "id": "MONDO:0009151",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009151",
            "categories": []
        },
        {
            "id": "MIM:225060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/225060",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0A8M2B818",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Nectin 1a",
                    "type": "recommended"
                },
                {
                    "name": "nectin 1a",
                    "type": "synonym"
                },
                {
                    "name": "nectin-1a",
                    "type": "synonym"
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                {
                    "name": "poliovirus receptor-related 1a",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nectin1a",
                    "type": "recommended"
                },
                {
                    "name": "nectin1a",
                    "type": "synonym"
                },
                {
                    "name": "pvrl1a",
                    "type": "synonym"
                }
            ],
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                    "id": "0060773",
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                }
            ]
        },
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Nectin 1b",
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                {
                    "name": "nectin 1b precursor",
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                },
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                    "name": "nectin 1",
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                    "name": "nectin-1b",
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                {
                    "name": "poliovirus receptor-related 1b",
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            ],
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                    "name": "nectin1b",
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                {
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                {
                    "name": "pvrl1b",
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                    "id": "0060773",
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        },
        {
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Nectin-1",
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                    "name": "Herpes virus entry mediator C",
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                },
                {
                    "name": "Herpesvirus entry mediator C",
                    "type": "synonym"
                },
                {
                    "name": "HveC",
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                    "name": "Nectin cell adhesion molecule 1",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "herpes virus entry mediator C",
                    "type": "synonym"
                },
                {
                    "name": "herpesvirus entry mediator C",
                    "type": "synonym"
                },
                {
                    "name": "nectin-1 alpha",
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                },
                {
                    "name": "nectin-1 delta",
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                },
                {
                    "name": "nectin-1 precursor",
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                {
                    "name": "poliovirus receptor-related protein 1",
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            ],
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                    "name": "Nectin1",
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                {
                    "name": "Cd111",
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                },
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                    "name": "HIgR",
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                {
                    "name": "HveC",
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                },
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                    "name": "Hvec",
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                    "name": "Nectin1",
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                },
                {
                    "name": "PRR1",
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                {
                    "name": "PRR",
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                },
                {
                    "name": "Prr1",
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                    "name": "Pvrl1",
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                    "id": "0060773",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q15223-1",
            "uniprot_ac": "Q15223",
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            "refseq_ac": "NP_002846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Nectin-1",
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                {
                    "name": "Herpesvirus Ig-like receptor",
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                    "name": "Poliovirus receptor-related protein 1",
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                    "name": "ectodermal dysplasia 4 (Margarita Island type)",
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                {
                    "name": "herpes simplex virus type 1 sensitivity",
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                {
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                    "name": "herpesvirus Ig-like receptor",
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                    "name": "ED4",
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                    "name": "NECTIN1",
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                    "name": "OFC7",
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                    "name": "PRR",
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                    "name": "PVRL1",
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                    "name": "PVRR1",
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                    "name": "PVRR",
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                    "name": "SK-12",
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                    "name": "nectin-1",
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                    "id": "225060",
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                    "id": "0060773",
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        },
        {
            "uniprot_canonical_ac": "F1LNP8-1",
            "uniprot_ac": "F1LNP8",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
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                    "name": "Poliovirus receptor-related protein 1",
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                    "name": "nectin)",
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                    "name": "nectin-1 precursor",
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                    "name": "poliovirus receptor-related 1 (herpesvirus entry mediator C",
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                    "name": "poliovirus receptor-related protein 1",
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                    "name": "Nectin1",
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                    "id": "0060773",
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            "uniprot_canonical_ac": "P15278-1",
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                    "name": "Drosophila melanogaster",
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                    "name": "Fasciclin III",
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                    "name": "Fasciclin-3",
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                    "name": "Fasciclin-III",
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                    "name": "fasiciclin III",
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                {
                    "name": "fasicilin III",
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                    "name": "fasiclin III",
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                    "name": "Fas",
                    "type": "synonym"
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                {
                    "name": "fas III",
                    "type": "synonym"
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                    "name": "fas-III",
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                    "name": "fascIII",
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                    "id": "0060773",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060773"
}