{
    "disease_id": "DOID:0110607",
    "recommended_name": {
        "id": "DOID:0110607",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110607",
        "name": "primary ciliary dyskinesia 28",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110607",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110607",
            "name": "CILD28",
            "description": ""
        },
        {
            "id": "DOID:0110607",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110607",
            "name": "primary ciliary dyskinesia 28 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "primary ciliary dyskinesia 28",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene."
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "primary ciliary dyskinesia caused by mutation in SPAG1",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "primary ciliary dyskinesia 28 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "primary ciliary dyskinesia type 28",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "ciliary dyskinesia, primary, 28",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "ciliary dyskinesia, primary, 28; CILD28",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "ciliary dyskinesia, primary, 28, with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "SPAG1 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "CILD28",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "ciliary dyskinesia, primary, type 28",
            "description": ""
        },
        {
            "id": "MIM:615505",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615505",
            "name": "Ciliary dyskinesia, primary, 28",
            "description": "Ciliary dyskinesia, primary, 28"
        }
    ]
}