{
    "disease_id": "DOID:0111853",
    "recommended_name": {
        "id": "DOID:0111853",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111853",
        "name": "primary ciliary dyskinesia 40",
        "description": "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12."
    },
    "synonyms": [
        {
            "id": "DOID:0111853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111853",
            "name": "CILD40",
            "description": ""
        },
        {
            "id": "DOID:0111853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111853",
            "name": "primary ciliary dyskinesia 40 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0032664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032664",
            "name": "ciliary dyskinesia, primary, 40",
            "description": ""
        },
        {
            "id": "MONDO:0032664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032664",
            "name": "CILD40",
            "description": ""
        },
        {
            "id": "MIM:618300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618300",
            "name": "Ciliary dyskinesia, primary, 40",
            "description": "Ciliary dyskinesia, primary, 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111853"
    ],
    "unlinked_id_list": []
}