{
    "disease_id": "DOID:0110975",
    "recommended_name": {
        "id": "DOID:0110975",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110975",
        "name": "brachydactyly type B2",
        "description": "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110975",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110975",
            "name": "BDB2",
            "description": ""
        },
        {
            "id": "MONDO:0012658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012658",
            "name": "brachydactyly type B2",
            "description": "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness."
        },
        {
            "id": "MONDO:0012658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012658",
            "name": "BDB2",
            "description": ""
        },
        {
            "id": "MONDO:0012658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012658",
            "name": "brachydactyly, type B2",
            "description": ""
        },
        {
            "id": "MONDO:0012658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012658",
            "name": "brachydactyly, type B2; BDB2",
            "description": ""
        },
        {
            "id": "MIM:611377",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611377",
            "name": "Brachydactyly B2",
            "description": "Brachydactyly B2"
        }
    ]
}