{
    "disease_id": "DOID:0111404",
    "recommended_name": {
        "id": "DOID:0111404",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111404",
        "name": "Jalili syndrome",
        "description": "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111404",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111404",
            "name": "Cone rod dystrophy-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111404",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111404",
            "name": "cone-rod dystrophy and amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "Jalili syndrome",
            "description": "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term)."
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "cone rod dystrophy-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "Jalili syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "cone-Rod dystrophy and amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "cone-rod dystrophy amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "cone-rod dystrophy with amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MIM:217080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/217080",
            "name": "Jalili syndrome",
            "description": "Jalili syndrome"
        }
    ]
}