{
    "disease_id": "DOID:0061241",
    "recommended_name": {
        "id": "DOID:0061241",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061241",
        "name": "Stargardt disease 1",
        "description": "A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina and has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22."
    },
    "synonyms": [
        {
            "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_list": [
        "DOID:0061241"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061241",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061241",
            "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": "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"
                }
            ]
        },
        {
            "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"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061241"
}