{
    "disease_id": "DOID:0060376",
    "recommended_name": {
        "id": "DOID:0060376",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060376",
        "name": "Joubert syndrome with orofaciodigital defect",
        "description": "A Joubert syndrome that is characterized by orofaciodigital defect."
    },
    "synonyms": [
        {
            "id": "DOID:0060376",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060376",
            "name": "OFD6",
            "description": ""
        },
        {
            "id": "DOID:0060376",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060376",
            "name": "Varadi syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060376",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060376",
            "name": "Varadi-Papp syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060376",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060376",
            "name": "orofaciodigital syndrome VI",
            "description": ""
        },
        {
            "id": "DOID:0060376",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060376",
            "name": "Polydactyly cleft lip palate psychomotor retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "orofaciodigital syndrome type 6",
            "description": "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly."
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "OFD6",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "Varadi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "Varadi-Papp syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "Joubert syndrome with orofaciodigital defect",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "oral-facial-digital syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "orofaciodigital syndrome VI",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "orofaciodigital syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "orofaciodigital syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "polydactyly cleft lip palate psychomotor retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "Vradi-Papp syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "oral-Facial-digital syndrome, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "Vradi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "Joubert syndrome with oral-facial-digital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "polydactyly - cleft lip/palate - psychomotor retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "polydactyly-cleft lip/palate-psychomotor retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "Ofds 6",
            "description": ""
        },
        {
            "id": "MONDO:0010176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010176",
            "name": "orofaciodigital syndrome VI; OFD6",
            "description": ""
        },
        {
            "id": "MIM:277170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277170",
            "name": "Orofaciodigital syndrome 6",
            "description": "Orofaciodigital syndrome 6"
        }
    ]
}