{
    "disease_id": "DOID:0110596",
    "recommended_name": {
        "id": "DOID:0110596",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110596",
        "name": "primary ciliary dyskinesia 21",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110596",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110596",
            "name": "CILD21",
            "description": ""
        },
        {
            "id": "DOID:0110596",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110596",
            "name": "primary ciliary dyskinesia 21 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "primary ciliary dyskinesia 21",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene."
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "ciliary dyskinesia, primary, 21; CILD21",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "ciliary dyskinesia, primary, type 21",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "DRC1 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "CILD21",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "ciliary dyskinesia, primary, 21",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "primary ciliary dyskinesia 21 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "primary ciliary dyskinesia type 21",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "primary ciliary dyskinesia caused by mutation in DRC1",
            "description": ""
        },
        {
            "id": "MONDO:0014123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014123",
            "name": "ciliary dyskinesia, primary, 21, without situs inversus",
            "description": ""
        },
        {
            "id": "MIM:615294",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615294",
            "name": "Ciliary dyskinesia, primary, 21",
            "description": "Ciliary dyskinesia, primary, 21"
        }
    ]
}
