{
    "disease_id": "DOID:0070439",
    "recommended_name": {
        "id": "DOID:0070439",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070439",
        "name": "North Carolina macular dystrophy",
        "description": "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0070439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070439",
            "name": "MCDR1",
            "description": ""
        },
        {
            "id": "DOID:0070439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070439",
            "name": "NCMD",
            "description": ""
        },
        {
            "id": "DOID:0070439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070439",
            "name": "central areolar pigment epithelial dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0070439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070439",
            "name": "central retinal pigment epithelial dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0070439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070439",
            "name": "progressive foveal dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0070439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070439",
            "name": "retinal macular dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "North Carolina macular dystrophy",
            "description": "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination."
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "CAPE dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "CAPED",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "MCDR1",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "NCMD",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "North Carolina macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "North Carolina macular dystrophy, retinal 1",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "caped",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "central areolar pigment epithelial dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "central retinal pigment epithelial dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "macular dystrophy 1, North Carolina type",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "progressive foveal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "foveal dystrophy progressive",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "foveal dystrophy, progressive",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "macular dystrophy retinal 1 North Carolina type",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "macular dystrophy, retinal, 1, NORTH Carolina type",
            "description": ""
        },
        {
            "id": "MONDO:0007630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "name": "retinal pigment epithelial dystrophy central",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070439"
    ],
    "unlinked_id_list": []
}