{
    "disease_id": "DOID:0110618",
    "recommended_name": {
        "id": "DOID:0110618",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110618",
        "name": "primary ciliary dyskinesia 13",
        "description": "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110618",
            "name": "CILD13",
            "description": ""
        },
        {
            "id": "DOID:0110618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110618",
            "name": "primary ciliary dyskinesia 13 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "primary ciliary dyskinesia 13",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene."
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "CILD13",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "DNAAF1 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "ciliary dyskinesia, primary, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "primary ciliary dyskinesia 13",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "primary ciliary dyskinesia caused by mutation in DNAAF1",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "primary ciliary dyskinesia type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "ciliary dyskinesia, primary, 13",
            "description": ""
        },
        {
            "id": "MIM:613193",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613193",
            "name": "Ciliary dyskinesia, primary, 13",
            "description": "Ciliary dyskinesia, primary, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110618"
    ],
    "unlinked_id_list": []
}