{
    "disease_id": "DOID:0061238",
    "recommended_name": {
        "id": "DOID:0061238",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061238",
        "name": "Stargardt disease 3",
        "description": "A stargardt disease that is characterized by macular pigmentary changes and yellow flecks and macular retinal pigment epithelium defects and has_material_basis_in heterozygous mutation in the ELOVL4 gene on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0010819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010819",
            "name": "Stargardt disease 3",
            "description": ""
        },
        {
            "id": "MONDO:0010819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010819",
            "name": "Stargardt disease 3",
            "description": ""
        },
        {
            "id": "MONDO:0010819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010819",
            "name": "Stargardt disease type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010819",
            "name": "STGD3",
            "description": ""
        },
        {
            "id": "MIM:600110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600110",
            "name": "Stargardt disease 3",
            "description": "Stargardt disease 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061238"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061238",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061238",
            "categories": []
        },
        {
            "id": "MONDO:0010819",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010819",
            "categories": []
        },
        {
            "id": "MIM:600110",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600110",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9GZR5-1",
            "uniprot_ac": "Q9GZR5",
            "uniprot_id": "ELOV4_HUMAN",
            "refseq_ac": "NP_073563",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very long chain fatty acid elongase 4",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase ELOVL4",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL FA elongase 4",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL fatty acid elongase 4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation of very long chain fatty acids protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-ketoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 118",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids protein 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-ketoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-oxoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELOVL4",
                    "type": "recommended"
                },
                {
                    "name": "ADMD",
                    "type": "synonym"
                },
                {
                    "name": "CT118",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL4",
                    "type": "synonym"
                },
                {
                    "name": "ISQMR",
                    "type": "synonym"
                },
                {
                    "name": "SCA34",
                    "type": "synonym"
                },
                {
                    "name": "STGD2",
                    "type": "synonym"
                },
                {
                    "name": "STGD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZR5-1",
            "evidence": [
                {
                    "id": "600110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600110"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061238"
}