{
    "disease_id": "DOID:0110976",
    "recommended_name": {
        "id": "DOID:0110976",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110976",
        "name": "brachydactyly type E2",
        "description": "A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p."
    },
    "synonyms": [
        {
            "id": "DOID:0110976",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110976",
            "name": "BDE2",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "brachydactyly type E2",
            "description": "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene."
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "BDE2",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "PTHLH brachydactyly type E",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "brachydactyly, type E2",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "brachydactyly type E caused by mutation in PTHLH",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "brachydactyly, type E2; BDE2",
            "description": ""
        },
        {
            "id": "MIM:613382",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613382",
            "name": "Brachydactyly E2",
            "description": "Brachydactyly E2"
        }
    ]
}