{
    "disease_id": "DOID:0070441",
    "recommended_name": {
        "id": "DOID:0070441",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070441",
        "name": "retinal macular dystrophy 4",
        "description": "A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070441",
            "name": "MCDR4",
            "description": ""
        },
        {
            "id": "MONDO:0859568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859568",
            "name": "macular dystrophy, retinal, 4",
            "description": ""
        },
        {
            "id": "MIM:619977",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619977",
            "name": "Macular dystrophy, retinal, 4",
            "description": "Macular dystrophy, retinal, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070441"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070441",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070441",
            "categories": []
        },
        {
            "id": "MONDO:0859568",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859568",
            "categories": []
        },
        {
            "id": "MIM:619977",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619977",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PDC0-1",
            "uniprot_ac": "A0A8M9PDC0",
            "uniprot_id": "A0A8M9PDC0_DANRE",
            "refseq_ac": "XP_021322479",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetranectin",
                    "type": "synonym"
                },
                {
                    "name": "tetranectin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clec3ba",
                    "type": "recommended"
                },
                {
                    "name": "clec3ba",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PDC0-1",
            "evidence": [
                {
                    "id": "0070441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F0Y1-1",
            "uniprot_ac": "E7F0Y1",
            "uniprot_id": "E7F0Y1_DANRE",
            "refseq_ac": "XP_003200569",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetranectin",
                    "type": "synonym"
                },
                {
                    "name": "tetranectin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clec3bb",
                    "type": "recommended"
                },
                {
                    "name": "clec3bb",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F0Y1-1",
            "evidence": [
                {
                    "id": "0070441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43025-1",
            "uniprot_ac": "P43025",
            "uniprot_id": "TETN_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetranectin",
                    "type": "recommended"
                },
                {
                    "name": "C-type lectin domain family 3 member B",
                    "type": "synonym"
                },
                {
                    "name": "Plasminogen kringle 4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TN",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clec3b",
                    "type": "recommended"
                },
                {
                    "name": "Tna",
                    "type": "synonym"
                }
            ],
            "record_id": "P43025-1",
            "evidence": [
                {
                    "id": "0070441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05452-1",
            "uniprot_ac": "P05452",
            "uniprot_id": "TETN_HUMAN",
            "refseq_ac": "NP_003269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetranectin",
                    "type": "recommended"
                },
                {
                    "name": "C-type lectin domain family 3 member B",
                    "type": "synonym"
                },
                {
                    "name": "Plasminogen kringle 4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TN",
                    "type": "synonym"
                },
                {
                    "name": "plasminogen kringle 4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "tetranectin (plasminogen-binding protein)",
                    "type": "synonym"
                },
                {
                    "name": "tetranectin isoform 1precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLEC3B",
                    "type": "recommended"
                },
                {
                    "name": "CLEC3B",
                    "type": "synonym"
                },
                {
                    "name": "MCDR4",
                    "type": "synonym"
                },
                {
                    "name": "TNA",
                    "type": "synonym"
                },
                {
                    "name": "TN",
                    "type": "synonym"
                }
            ],
            "record_id": "P05452-1",
            "evidence": [
                {
                    "id": "619977",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619977"
                },
                {
                    "id": "0070441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070441"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070441"
}