{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0070439",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070439",
            "categories": []
        },
        {
            "id": "MONDO:0007630",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007630",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9PZZ1-1",
            "uniprot_ac": "E9PZZ1",
            "uniprot_id": "PRD13_MOUSE",
            "refseq_ac": "NP_001074240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm13",
                    "type": "recommended"
                },
                {
                    "name": "Prdm13",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PZZ1-1",
            "evidence": [
                {
                    "id": "0070439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LHZ5-1",
            "uniprot_ac": "A0ABK0LHZ5",
            "uniprot_id": "A0ABK0LHZ5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR/SET domain 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm13",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LHZ5-1",
            "evidence": [
                {
                    "id": "0070439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRV0-1",
            "uniprot_ac": "Q9VRV0",
            "uniprot_id": "Q9VRV0_DROME",
            "refseq_ac": "NP_648032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13296-PA",
                    "type": "synonym"
                },
                {
                    "name": "PR/SET domain 13",
                    "type": "synonym"
                },
                {
                    "name": "Prdm13-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm13",
                    "type": "recommended"
                },
                {
                    "name": "CG13296",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13296",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13296",
                    "type": "synonym"
                },
                {
                    "name": "PRDM13",
                    "type": "synonym"
                },
                {
                    "name": "Prdm13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRV0-1",
            "evidence": [
                {
                    "id": "0070439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4Q3-1",
            "uniprot_ac": "Q9H4Q3",
            "uniprot_id": "PRD13_HUMAN",
            "refseq_ac": "NP_067633",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "PR domain 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain containing 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 13",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 13",
                    "type": "synonym"
                },
                {
                    "name": "PR-domain containing protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRDM13",
                    "type": "recommended"
                },
                {
                    "name": "CDIDHH",
                    "type": "synonym"
                },
                {
                    "name": "MU-MB-20.220",
                    "type": "synonym"
                },
                {
                    "name": "PCH17",
                    "type": "synonym"
                },
                {
                    "name": "PFM10",
                    "type": "synonym"
                },
                {
                    "name": "PRDM13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4Q3-1",
            "evidence": [
                {
                    "id": "0070439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070439"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070439"
}