{
    "disease_id": "DOID:0111649",
    "recommended_name": {
        "id": "DOID:0111649",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111649",
        "name": "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome",
        "description": "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111649",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111649",
            "name": "EEM syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111649",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111649",
            "name": "EEMS",
            "description": ""
        },
        {
            "id": "DOID:0111649",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111649",
            "name": "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009155",
            "name": "EEM syndrome",
            "description": "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)."
        },
        {
            "id": "MONDO:0009155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009155",
            "name": "EEM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009155",
            "name": "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009155",
            "name": "EEMS",
            "description": ""
        },
        {
            "id": "MONDO:0009155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009155",
            "name": "ectodermal dysplasia, ectrodactyly, and macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009155",
            "name": "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MIM:225280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225280",
            "name": "Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome",
            "description": "Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111649"
    ],
    "unlinked_id_list": []
}