{
    "disease_id": "DOID:0110972",
    "recommended_name": {
        "id": "DOID:0110972",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110972",
        "name": "brachydactyly type E1",
        "description": "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110972",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110972",
            "name": "BDE1",
            "description": ""
        },
        {
            "id": "MONDO:0007223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007223",
            "name": "brachydactyly type E1",
            "description": "Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene."
        },
        {
            "id": "MONDO:0007223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007223",
            "name": "brachydactyly, type E1",
            "description": ""
        },
        {
            "id": "MONDO:0007223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007223",
            "name": "brachydactyly type E caused by mutation in HOXD13",
            "description": ""
        },
        {
            "id": "MONDO:0007223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007223",
            "name": "HOXD13 brachydactyly type E",
            "description": ""
        },
        {
            "id": "MONDO:0007223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007223",
            "name": "brachydactyly, type E1; BDE1",
            "description": ""
        },
        {
            "id": "MONDO:0007223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007223",
            "name": "BDE1",
            "description": ""
        },
        {
            "id": "MONDO:0007223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007223",
            "name": "brachydactyly, type E",
            "description": ""
        },
        {
            "id": "MIM:113300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/113300",
            "name": "Brachydactyly E1",
            "description": "Brachydactyly E1"
        }
    ]
}