{
    "disease_id": "DOID:0060746",
    "recommended_name": {
        "id": "DOID:0060746",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060746",
        "name": "basal laminar drusen",
        "description": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060746",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060746",
            "name": "cuticular drusen",
            "description": ""
        },
        {
            "id": "DOID:0060746",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060746",
            "name": "drusen of bruch membrane",
            "description": ""
        },
        {
            "id": "DOID:0060746",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060746",
            "name": "early adult-onset grouped drusen",
            "description": ""
        },
        {
            "id": "MONDO:0007472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007472",
            "name": "basal laminar drusen",
            "description": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3."
        },
        {
            "id": "MONDO:0007472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007472",
            "name": "basal laminar drusen",
            "description": ""
        },
        {
            "id": "MONDO:0007472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007472",
            "name": "drusen of Bruch membrane",
            "description": ""
        },
        {
            "id": "MIM:126700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/126700",
            "name": "Basal laminar drusen",
            "description": "Basal laminar drusen"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060746"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060746",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060746",
            "categories": []
        },
        {
            "id": "MONDO:0007472",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007472",
            "categories": []
        },
        {
            "id": "MIM:126700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/126700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N898-1",
            "uniprot_ac": "A0A8M1N898",
            "uniprot_id": "A0A8M1N898_DANRE",
            "refseq_ac": "NP_001032792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor H like 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement factor H like 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement factor H-like 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfhl1",
                    "type": "recommended"
                },
                {
                    "name": "cfhl1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-207o17.7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123186",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N898-1",
            "evidence": [
                {
                    "id": "0060746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q8B5-1",
            "uniprot_ac": "E9Q8B5",
            "uniprot_id": "E9Q8B5_MOUSE",
            "refseq_ac": "NP_001025148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor H-related 4",
                    "type": "synonym"
                },
                {
                    "name": "complement factor H-related protein C isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement factor H-related protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfhr4",
                    "type": "recommended"
                },
                {
                    "name": "Cfhr4",
                    "type": "synonym"
                },
                {
                    "name": "Cfhrc",
                    "type": "synonym"
                },
                {
                    "name": "EG214403",
                    "type": "synonym"
                },
                {
                    "name": "Gm4788",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q8B5-1",
            "evidence": [
                {
                    "id": "0060746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06909-1",
            "uniprot_ac": "P06909",
            "uniprot_id": "CFAH_MOUSE",
            "refseq_ac": "NP_034018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor H",
                    "type": "recommended"
                },
                {
                    "name": "Protein beta-1-H",
                    "type": "synonym"
                },
                {
                    "name": "complement factor H precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement factor H related protein 3A4/5G4",
                    "type": "synonym"
                },
                {
                    "name": "protein beta-1-H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfh",
                    "type": "recommended"
                },
                {
                    "name": "Cfh",
                    "type": "synonym"
                },
                {
                    "name": "Hf1",
                    "type": "synonym"
                },
                {
                    "name": "Mud-1",
                    "type": "synonym"
                },
                {
                    "name": "NOM",
                    "type": "synonym"
                },
                {
                    "name": "Sas-1",
                    "type": "synonym"
                },
                {
                    "name": "Sas1",
                    "type": "synonym"
                }
            ],
            "record_id": "P06909-1",
            "evidence": [
                {
                    "id": "0060746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08603-1",
            "uniprot_ac": "P08603",
            "uniprot_id": "CFAH_HUMAN",
            "refseq_ac": "NP_000177",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor H",
                    "type": "recommended"
                },
                {
                    "name": "H factor 1 (complement)",
                    "type": "synonym"
                },
                {
                    "name": "H factor 1",
                    "type": "synonym"
                },
                {
                    "name": "H factor 2 (complement)",
                    "type": "synonym"
                },
                {
                    "name": "adrenomedullin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "age-related maculopathy susceptibility 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1-H-globulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1H",
                    "type": "synonym"
                },
                {
                    "name": "complement factor H isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "factor H-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFH",
                    "type": "recommended"
                },
                {
                    "name": "AHUS1",
                    "type": "synonym"
                },
                {
                    "name": "AMBP1",
                    "type": "synonym"
                },
                {
                    "name": "ARMD4",
                    "type": "synonym"
                },
                {
                    "name": "ARMS1",
                    "type": "synonym"
                },
                {
                    "name": "CFHL3",
                    "type": "synonym"
                },
                {
                    "name": "CFH",
                    "type": "synonym"
                },
                {
                    "name": "FHL1",
                    "type": "synonym"
                },
                {
                    "name": "FH",
                    "type": "synonym"
                },
                {
                    "name": "HF1",
                    "type": "synonym"
                },
                {
                    "name": "HF2",
                    "type": "synonym"
                },
                {
                    "name": "HF",
                    "type": "synonym"
                },
                {
                    "name": "HUS",
                    "type": "synonym"
                }
            ],
            "record_id": "P08603-1",
            "evidence": [
                {
                    "id": "126700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/126700"
                },
                {
                    "id": "0060746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V9R2-1",
            "uniprot_ac": "G3V9R2",
            "uniprot_id": "G3V9R2_RAT",
            "refseq_ac": "NP_569093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor H",
                    "type": "recommended"
                },
                {
                    "name": "adrenomedullin binding protein-1",
                    "type": "synonym"
                },
                {
                    "name": "complement component factor H",
                    "type": "synonym"
                },
                {
                    "name": "complement factor H precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement inhibitory factor H",
                    "type": "synonym"
                },
                {
                    "name": "platelet complement factor H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfh",
                    "type": "recommended"
                },
                {
                    "name": "AMBP-1",
                    "type": "synonym"
                },
                {
                    "name": "AMBP1",
                    "type": "synonym"
                },
                {
                    "name": "Cfh",
                    "type": "synonym"
                },
                {
                    "name": "Fh",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V9R2-1",
            "evidence": [
                {
                    "id": "0060746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060746"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060746"
}