{
    "disease_id": "DOID:0060293",
    "recommended_name": {
        "id": "DOID:0060293",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060293",
        "name": "autosomal dominant chondrodysplasia punctata",
        "description": "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance."
    },
    "synonyms": [
        {
            "id": "MONDO:0007322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007322",
            "name": "chondrodysplasia punctata, tibial-metacarpal type",
            "description": ""
        },
        {
            "id": "MONDO:0007322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007322",
            "name": "chondrodysplasia punctata, Mt type",
            "description": ""
        },
        {
            "id": "MONDO:0007322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007322",
            "name": "chondrodysplasia punctata, tibia-metacarpal type",
            "description": ""
        },
        {
            "id": "MONDO:0007321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007321",
            "name": "autosomal dominant chondrodysplasia punctata",
            "description": "Autosomal dominant form of chondrodysplasia punctata."
        },
        {
            "id": "MONDO:0007321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007321",
            "name": "chondrodysplasia punctata, Sheffield type",
            "description": ""
        },
        {
            "id": "MONDO:0007321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007321",
            "name": "chondrodysplasia punctata Sheffield type",
            "description": ""
        },
        {
            "id": "MONDO:0007321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007321",
            "name": "chondrodysplasia punctata, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007321",
            "name": "chondrodysplasia punctata due to warfarin Teratogenicity",
            "description": ""
        },
        {
            "id": "MONDO:0007321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007321",
            "name": "chondrodysplasia punctata due to Vitamin K deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011238",
            "name": "chondrodysplasia punctata, brachytelephalangic, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0011238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011238",
            "name": "brachytelephalangic chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0011238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011238",
            "name": "chondrodysplasia punctata, brachytelephalangic, autosomal",
            "description": ""
        }
    ]
}