{
    "disease_id": "DOID:0061240",
    "recommended_name": {
        "id": "DOID:0061240",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061240",
        "name": "Stargardt disease 5",
        "description": "A stargardt disease that is characterized by onset of macular dystrophy in the fifth decade of life, with mildly reduced visual acuity and normal amplitudes on electroretinography and has_material_basis_in homozygous mutation in the RDH8 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0980722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980722",
            "name": "Stargardt disease 5",
            "description": ""
        },
        {
            "id": "MIM:621259",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621259",
            "name": "Stargardt disease 5",
            "description": "Stargardt disease 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061240"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061240",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061240",
            "categories": []
        },
        {
            "id": "MONDO:0980722",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980722",
            "categories": []
        },
        {
            "id": "MIM:621259",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621259",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9NYR8-1",
            "uniprot_ac": "Q9NYR8",
            "uniprot_id": "RDH8_HUMAN",
            "refseq_ac": "NP_056540",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinol dehydrogenase 8",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.300",
                    "type": "synonym"
                },
                {
                    "name": "Photoreceptor outer segment all-trans retinol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 28C member 2",
                    "type": "synonym"
                },
                {
                    "name": "photoreceptor outer segment all-trans retinol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 8 (all-trans)",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 8",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 28C member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RDH8",
                    "type": "recommended"
                },
                {
                    "name": "PRRDH",
                    "type": "synonym"
                },
                {
                    "name": "RDH8",
                    "type": "synonym"
                },
                {
                    "name": "SDR28C2",
                    "type": "synonym"
                },
                {
                    "name": "STGD5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYR8-1",
            "evidence": [
                {
                    "id": "621259",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621259"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061240"
}