{
    "disease_id": "DOID:0090119",
    "recommended_name": {
        "id": "DOID:0090119",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090119",
        "name": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome",
        "description": "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "DOID:0090119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090119",
            "name": "AEC syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090119",
            "name": "Hay-Wells syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090119",
            "name": "ankyloblepharon-ectodermal defects-cleft lip and palate syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome",
            "description": "Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate."
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "Rapp-Hodgkins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "Aec syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "ankyloblepharon-ectodermal defects-cleft lip and palate syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "AEC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "ankyloblepharon ectodermal defects cleft lip/palate",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "Seres-Santamaria Arimany Muniz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "ankyloblepharon-ectodermal defects-cleft LIP/palate",
            "description": ""
        },
        {
            "id": "MONDO:0007124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007124",
            "name": "hay-Wells syndrome",
            "description": ""
        },
        {
            "id": "MIM:106260",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/106260",
            "name": "Ankyloblepharon-ectodermal defects-cleft lip/palate",
            "description": "Ankyloblepharon-ectodermal defects-cleft lip/palate"
        }
    ]
}
