{
    "disease_id": "DOID:0110598",
    "recommended_name": {
        "id": "DOID:0110598",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110598",
        "name": "primary ciliary dyskinesia 14",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "DOID:0110598",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110598",
            "name": "CILD14",
            "description": ""
        },
        {
            "id": "DOID:0110598",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110598",
            "name": "primary ciliary dyskinesia 14 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "primary ciliary dyskinesia 14",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene."
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "CCDC39 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "ciliary dyskinesia, primary, 14; CILD14",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "ciliary dyskinesia, primary, 14, with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "primary ciliary dyskinesia 14 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "ciliary dyskinesia, primary, type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "CILD14",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "primary ciliary dyskinesia caused by mutation in CCDC39",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "primary ciliary dyskinesia type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "ciliary dyskinesia, primary, 14",
            "description": ""
        },
        {
            "id": "MIM:613807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613807",
            "name": "Ciliary dyskinesia, primary, 14",
            "description": "Ciliary dyskinesia, primary, 14"
        }
    ]
}