{
    "disease_id": "DOID:0050816",
    "recommended_name": {
        "id": "DOID:0050816",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050816",
        "name": "urofacial syndrome",
        "description": "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding."
    },
    "synonyms": [
        {
            "id": "DOID:0050816",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050816",
            "name": "Ochoa syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050816",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050816",
            "name": "hydronephrosis with peculiar facial expression",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "urofacial syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "urofacial syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "hydronephrosis with peculiar Facial expression",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "Ochoa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "UFS1",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "urofacial syndrome 1; UFS1",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "inverted smile and occult neuropathic bladder",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "facial palsy, partial, with urinary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "urofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "urofacial syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "urofacial syndrome 2",
            "description": "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene."
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "LRIG2 Ochoa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "UFS2",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "urofacial syndrome 2; UFS2",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "Ochoa syndrome caused by mutation in LRIG2",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "urofacial syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "urofacial syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:236730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236730",
            "name": "Urofacial syndrome 1",
            "description": "Urofacial syndrome 1"
        },
        {
            "id": "MIM:615112",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615112",
            "name": "Urofacial syndrome 2",
            "description": "Urofacial syndrome 2"
        }
    ]
}
