{
    "disease_id": "DOID:0050817",
    "recommended_name": {
        "id": "DOID:0050817",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050817",
        "name": "Stargardt disease",
        "description": "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness."
    },
    "synonyms": [
        {
            "id": "DOID:0050817",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050817",
            "name": "STARGARDT DISEASE 1",
            "description": ""
        },
        {
            "id": "MONDO:0009549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009549",
            "name": "severe early-childhood-onset retinal dystrophy",
            "description": "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy."
        },
        {
            "id": "MONDO:0009549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009549",
            "name": "EOSRD",
            "description": ""
        },
        {
            "id": "MONDO:0009549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009549",
            "name": "SECORD",
            "description": ""
        },
        {
            "id": "MONDO:0009549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009549",
            "name": "Stargardt disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009549",
            "name": "early-onset severe retinal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009549",
            "name": "STGD1",
            "description": ""
        },
        {
            "id": "MONDO:0009549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009549",
            "name": "Stargardt disease 1",
            "description": ""
        },
        {
            "id": "MIM:248200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248200",
            "name": "Stargardt disease 1",
            "description": "Stargardt disease 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061238",
            "label": "Stargardt disease 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061239",
            "label": "Stargardt disease 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061240",
            "label": "Stargardt disease 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061241",
            "label": "Stargardt disease 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0061238",
        "DOID:0061240",
        "DOID:0061239",
        "DOID:0050817",
        "DOID:0061241"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050817",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050817",
            "categories": []
        },
        {
            "id": "MONDO:0009549",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009549",
            "categories": []
        },
        {
            "id": "MIM:248200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/248200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R045-1",
            "uniprot_ac": "F1R045",
            "uniprot_id": "F1R045_DANRE",
            "refseq_ac": "XP_021322694",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P-type phospholipid transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific phospholipid-transporting ATPase ABCA4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abca4b",
                    "type": "recommended"
                },
                {
                    "name": "abca4b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R045-1",
            "evidence": [
                {
                    "id": "0050817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQC4-1",
            "uniprot_ac": "Q9EQC4",
            "uniprot_id": "ELOV4_MOUSE",
            "refseq_ac": "NP_683743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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": "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": "Elovl4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQC4-1",
            "evidence": [
                {
                    "id": "0050817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35600-1",
            "uniprot_ac": "O35600",
            "uniprot_id": "ABCA4_MOUSE",
            "refseq_ac": "NP_031404",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal-specific phospholipid-transporting ATPase ABCA4",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette 10",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 4",
                    "type": "synonym"
                },
                {
                    "name": "RIM ABC transporter",
                    "type": "synonym"
                },
                {
                    "name": "RIM protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinal-specific ATP-binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "Rim protein",
                    "type": "synonym"
                },
                {
                    "name": "RmP",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific ATP-binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific phospholipid-transporting ATPase ABCA4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abca4",
                    "type": "recommended"
                },
                {
                    "name": "Abc10",
                    "type": "synonym"
                },
                {
                    "name": "Abca4",
                    "type": "synonym"
                },
                {
                    "name": "Abcr",
                    "type": "synonym"
                },
                {
                    "name": "D430003I15Rik",
                    "type": "synonym"
                },
                {
                    "name": "RmP",
                    "type": "synonym"
                }
            ],
            "record_id": "O35600-1",
            "evidence": [
                {
                    "id": "0050817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78363-1",
            "uniprot_ac": "P78363",
            "uniprot_id": "ABCA4_HUMAN",
            "refseq_ac": "NP_000341",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal-specific phospholipid-transporting ATPase ABCA4",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter, retinal-specific",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding transporter, retina-specific",
                    "type": "synonym"
                },
                {
                    "name": "RIM ABC transporter",
                    "type": "synonym"
                },
                {
                    "name": "RIM proteinv",
                    "type": "synonym"
                },
                {
                    "name": "RIM protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinal-specific ATP-binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "RmP",
                    "type": "synonym"
                },
                {
                    "name": "Stargardt disease protein",
                    "type": "synonym"
                },
                {
                    "name": "photoreceptor rim protein",
                    "type": "synonym"
                },
                {
                    "name": "retina-specific ABC transporter",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific ATP-binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific phospholipid-transporting ATPase ABCA4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific phospholipid-transporting ATPase ABCA4",
                    "type": "synonym"
                },
                {
                    "name": "stargardt disease protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCA4",
                    "type": "recommended"
                },
                {
                    "name": "ABC10",
                    "type": "synonym"
                },
                {
                    "name": "ABCA4",
                    "type": "synonym"
                },
                {
                    "name": "ABCR",
                    "type": "synonym"
                },
                {
                    "name": "ARMD2",
                    "type": "synonym"
                },
                {
                    "name": "CORD3",
                    "type": "synonym"
                },
                {
                    "name": "FFM",
                    "type": "synonym"
                },
                {
                    "name": "RMP",
                    "type": "synonym"
                },
                {
                    "name": "RP19",
                    "type": "synonym"
                },
                {
                    "name": "STGD1",
                    "type": "synonym"
                },
                {
                    "name": "STGD",
                    "type": "synonym"
                }
            ],
            "record_id": "P78363-1",
            "evidence": [
                {
                    "id": "248200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248200"
                },
                {
                    "id": "0050817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQW8-1",
            "uniprot_ac": "Q9NQW8",
            "uniprot_id": "CNGB3_HUMAN",
            "refseq_ac": "NP_061971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel beta-3",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel beta-3",
                    "type": "synonym"
                },
                {
                    "name": "Cone photoreceptor cGMP-gated channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel beta-3",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel modulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated cation channel beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel beta 3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel modulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNGB3",
                    "type": "recommended"
                },
                {
                    "name": "ACHM1",
                    "type": "synonym"
                },
                {
                    "name": "CNGB3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQW8-1",
            "evidence": [
                {
                    "id": "248200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACH5-1",
            "uniprot_ac": "D4ACH5",
            "uniprot_id": "D4ACH5_RAT",
            "refseq_ac": "NP_001178725",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation of very long chain fatty acids protein 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": "Very long chain 3-ketoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 4",
                    "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": "elongation of very long chain fatty acids-like 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elovl4",
                    "type": "recommended"
                },
                {
                    "name": "ELOVL4",
                    "type": "synonym"
                },
                {
                    "name": "Elovl4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ACH5-1",
            "evidence": [
                {
                    "id": "0050817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JG15-1",
            "uniprot_ac": "X2JG15",
            "uniprot_id": "X2JG15_DROME",
            "refseq_ac": "NP_001285513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34120-PE",
                    "type": "synonym"
                },
                {
                    "name": "Lipid droplet defective, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "ldd-PE",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet defective, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ldd",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT04622",
                    "type": "synonym"
                },
                {
                    "name": "CG1819",
                    "type": "synonym"
                },
                {
                    "name": "CG32516",
                    "type": "synonym"
                },
                {
                    "name": "CG34120",
                    "type": "synonym"
                },
                {
                    "name": "DmCG1819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34120",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34120",
                    "type": "synonym"
                },
                {
                    "name": "ldd",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JG15-1",
            "evidence": [
                {
                    "id": "0050817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNR0-1",
            "uniprot_ac": "A8JNR0",
            "uniprot_id": "A8JNR0_DROME",
            "refseq_ac": "NP_001097580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation of very long chain fatty acids protein",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "CG11801-PB",
                    "type": "synonym"
                },
                {
                    "name": "Elo68beta-PB",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain 3-oxoacyl-CoA synthase",
                    "type": "synonym"
                },
                {
                    "name": "elongase 68beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elo68beta",
                    "type": "recommended"
                },
                {
                    "name": "CG11801",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11801",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11801",
                    "type": "synonym"
                },
                {
                    "name": "Elo68beta",
                    "type": "synonym"
                },
                {
                    "name": "elo68beta",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNR0-1",
            "evidence": [
                {
                    "id": "0050817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050817"
                }
            ]
        },
        {
            "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": "0050817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050817"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050817"
}