{
    "disease_id": "DOID:0112359",
    "recommended_name": {
        "id": "DOID:0112359",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112359",
        "name": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",
        "description": "A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0112359",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112359",
            "name": "CAKUTHED",
            "description": ""
        },
        {
            "id": "MONDO:0060549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060549",
            "name": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0060549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060549",
            "name": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0060549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060549",
            "name": "CAKUTHED",
            "description": ""
        },
        {
            "id": "MIM:617641",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617641",
            "name": "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",
            "description": "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112359"
    ],
    "unlinked_id_list": []
}