{
    "disease_id": "DOID:0060959",
    "recommended_name": {
        "id": "DOID:0060959",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060959",
        "name": "orofaciodigital syndrome II",
        "description": "An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33."
    },
    "synonyms": [
        {
            "id": "DOID:0060959",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060959",
            "name": "Mohr syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060959",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060959",
            "name": "Oral-facial-digital syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "orofaciodigital syndrome type II",
            "description": "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas."
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "MOHR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "Mohr syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "OFD2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "oral-facial-digital syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "OFD syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "oral facial digital syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "oral facial digital syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "orofaciodigital syndrome II",
            "description": ""
        },
        {
            "id": "MIM:252100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252100",
            "name": "Orofaciodigital syndrome 2",
            "description": "Orofaciodigital syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060959"
    ],
    "unlinked_id_list": []
}