{
    "disease_id": "DOID:0050774",
    "recommended_name": {
        "id": "DOID:0050774",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050774",
        "name": "rapadilino syndrome",
        "description": "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "rapadilino syndrome",
            "description": "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence."
        },
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "rapadilino syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate",
            "description": ""
        },
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "radial and patellar aplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "radial and patellar hypoplasia",
            "description": ""
        },
        {
            "id": "MIM:266280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266280",
            "name": "RAPADILINO syndrome",
            "description": "RAPADILINO syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050774"
    ],
    "unlinked_id_list": []
}