{
    "disease_id": "DOID:0112224",
    "recommended_name": {
        "id": "DOID:0112224",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112224",
        "name": "chondrodysplasia with joint dislocations gPAPP type",
        "description": "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12."
    },
    "synonyms": [
        {
            "id": "DOID:0112224",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112224",
            "name": "gPAPP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013561",
            "name": "chondrodysplasia with joint dislocations, gPAPP type",
            "description": ""
        },
        {
            "id": "MONDO:0013561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013561",
            "name": "chondrodysplasia with joint dislocations, gPAPP type",
            "description": ""
        },
        {
            "id": "MONDO:0013561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013561",
            "name": "gPAPP deficiency",
            "description": ""
        },
        {
            "id": "MIM:614078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614078",
            "name": "Chondrodysplasia with joint dislocations, GPAPP type",
            "description": "Chondrodysplasia with joint dislocations, GPAPP type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112224"
    ],
    "unlinked_id_list": []
}