{
    "disease_id": "DOID:0110625",
    "recommended_name": {
        "id": "DOID:0110625",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110625",
        "name": "primary ciliary dyskinesia 20",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110625",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110625",
            "name": "CILD20",
            "description": ""
        },
        {
            "id": "DOID:0110625",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110625",
            "name": "primary ciliary dyskinesia 20 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "primary ciliary dyskinesia 20",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene."
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "CCDC114 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "CILD20",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "ciliary dyskinesia, primary, type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "primary ciliary dyskinesia 20 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "primary ciliary dyskinesia caused by mutation in CCDC114",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "primary ciliary dyskinesia type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "ciliary dyskinesia, primary, 20",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "ciliary dyskinesia, primary, 20, with or without situs inversus",
            "description": ""
        },
        {
            "id": "MIM:615067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615067",
            "name": "Ciliary dyskinesia, primary, 20",
            "description": "Ciliary dyskinesia, primary, 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110625"
    ],
    "unlinked_id_list": []
}
