{
    "disease_id": "DOID:0111024",
    "recommended_name": {
        "id": "DOID:0111024",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111024",
        "name": "cone-rod dystrophy 18",
        "description": "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15."
    },
    "synonyms": [
        {
            "id": "DOID:0111024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111024",
            "name": "CORD18",
            "description": ""
        },
        {
            "id": "MONDO:0014153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014153",
            "name": "cone-rod dystrophy 18",
            "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene."
        },
        {
            "id": "MONDO:0014153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014153",
            "name": "CORD18",
            "description": ""
        },
        {
            "id": "MONDO:0014153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014153",
            "name": "RAB28 cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014153",
            "name": "cone-rod dystrophy 18",
            "description": ""
        },
        {
            "id": "MONDO:0014153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014153",
            "name": "cone-rod dystrophy caused by mutation in RAB28",
            "description": ""
        },
        {
            "id": "MONDO:0014153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014153",
            "name": "cone-rod dystrophy type 18",
            "description": ""
        },
        {
            "id": "MIM:615374",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615374",
            "name": "Cone-rod dystrophy 18",
            "description": "Cone-rod dystrophy 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111024"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111024",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111024",
            "categories": []
        },
        {
            "id": "MONDO:0014153",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014153",
            "categories": []
        },
        {
            "id": "MIM:615374",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615374",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99KL7-1",
            "uniprot_ac": "Q99KL7",
            "uniprot_id": "RAB28_MOUSE",
            "refseq_ac": "NP_081571",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-28",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-28 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab28",
                    "type": "recommended"
                },
                {
                    "name": "2700023P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rab28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KL7-1",
            "evidence": [
                {
                    "id": "0111024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51157-1",
            "uniprot_ac": "P51157",
            "uniprot_id": "RAB28_HUMAN",
            "refseq_ac": "NP_001017979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-28",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein Rab-28",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-28 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB28",
                    "type": "recommended"
                },
                {
                    "name": "CORD18",
                    "type": "synonym"
                },
                {
                    "name": "RAB28",
                    "type": "synonym"
                }
            ],
            "record_id": "P51157-1",
            "evidence": [
                {
                    "id": "615374",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615374"
                },
                {
                    "id": "0111024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51158-1",
            "uniprot_ac": "P51158",
            "uniprot_id": "RAB28_RAT",
            "refseq_ac": "NP_446430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-28",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "rab-26",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab28",
                    "type": "recommended"
                },
                {
                    "name": "Rab28",
                    "type": "synonym"
                }
            ],
            "record_id": "P51158-1",
            "evidence": [
                {
                    "id": "0111024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111024"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111024"
}