{
    "disease_id": "DOID:0111548",
    "recommended_name": {
        "id": "DOID:0111548",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111548",
        "name": "ring dermoid of cornea",
        "description": "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "DOID:0111548",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111548",
            "name": "RDC",
            "description": ""
        },
        {
            "id": "DOID:0111548",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111548",
            "name": "ring dermoid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "ring dermoid of cornea",
            "description": "Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition."
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "Ring dermoid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "ring dermoid of cornea",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "RDC",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "RING dermoid of cornea",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "bilateral, annular limbal dermoids with corneal and conjunctival extension",
            "description": ""
        },
        {
            "id": "MIM:180550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180550",
            "name": "Ring dermoid of cornea",
            "description": "Ring dermoid of cornea"
        }
    ]
}