{
    "disease_id": "DOID:0070337",
    "recommended_name": {
        "id": "DOID:0070337",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070337",
        "name": "epithelial recurrent erosion dystrophy",
        "description": "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity."
    },
    "synonyms": [
        {
            "id": "DOID:0070337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070337",
            "name": "COL17A1",
            "description": ""
        },
        {
            "id": "DOID:0070337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070337",
            "name": "ERED",
            "description": ""
        },
        {
            "id": "MONDO:0007381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007381",
            "name": "epithelial recurrent erosion dystrophy",
            "description": "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision."
        },
        {
            "id": "MONDO:0007381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007381",
            "name": "ERED",
            "description": ""
        },
        {
            "id": "MONDO:0007381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007381",
            "name": "dystrophia Helsinglandica",
            "description": ""
        },
        {
            "id": "MONDO:0007381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007381",
            "name": "dystrophia Smolandiensis",
            "description": ""
        },
        {
            "id": "MONDO:0007381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007381",
            "name": "epithelial recurrent erosion dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007381",
            "name": "recurrent hereditary corneal erosions",
            "description": ""
        },
        {
            "id": "MIM:122400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/122400",
            "name": "Epithelial recurrent erosion dystrophy",
            "description": "Epithelial recurrent erosion dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070337"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070337",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070337",
            "categories": []
        },
        {
            "id": "MONDO:0007381",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007381",
            "categories": []
        },
        {
            "id": "MIM:122400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/122400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UTE7-1",
            "uniprot_ac": "A0A8N7UTE7",
            "uniprot_id": "A0A8N7UTE7_DANRE",
            "refseq_ac": "XP_697241",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein col17a1b",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein col17a1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col17a1b",
                    "type": "recommended"
                },
                {
                    "name": "col17a1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UTE7-1",
            "evidence": [
                {
                    "id": "0070337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B6Z2-1",
            "uniprot_ac": "A0A8M2B6Z2",
            "uniprot_id": "A0A8M2B6Z2_DANRE",
            "refseq_ac": "XP_005160168",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XVII) chain",
                    "type": "recommended"
                },
                {
                    "name": "180 kDa bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "Bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XVII, alpha 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col17a1a",
                    "type": "recommended"
                },
                {
                    "name": "col17a1a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-281g13.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B6Z2-1",
            "evidence": [
                {
                    "id": "0070337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07563-1",
            "uniprot_ac": "Q07563",
            "uniprot_id": "COHA1_MOUSE",
            "refseq_ac": "NP_001277754",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XVII) chain",
                    "type": "recommended"
                },
                {
                    "name": "180 kDa bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "Bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XVII) chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XVII) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type XVII, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col17a1",
                    "type": "recommended"
                },
                {
                    "name": "BP180",
                    "type": "synonym"
                },
                {
                    "name": "Bp180",
                    "type": "synonym"
                },
                {
                    "name": "Bpag2",
                    "type": "synonym"
                },
                {
                    "name": "Bpag",
                    "type": "synonym"
                },
                {
                    "name": "Col17a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07563-1",
            "evidence": [
                {
                    "id": "0070337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMD9-1",
            "uniprot_ac": "Q9UMD9",
            "uniprot_id": "COHA1_HUMAN",
            "refseq_ac": "NP_000485",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XVII) chain",
                    "type": "recommended"
                },
                {
                    "name": "120 kDa linear IgA dermatosis antigen",
                    "type": "synonym"
                },
                {
                    "name": "180 kDa bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "97 kDa LAD antigen",
                    "type": "synonym"
                },
                {
                    "name": "97 kDa linear IgA bullous dermatosis antigen",
                    "type": "synonym"
                },
                {
                    "name": "97-LAD",
                    "type": "synonym"
                },
                {
                    "name": "Bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "LABD97",
                    "type": "synonym"
                },
                {
                    "name": "LAD-1",
                    "type": "synonym"
                },
                {
                    "name": "Linear IgA bullous disease antigen of 97 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Linear IgA disease antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha 1 type XVII collagen",
                    "type": "synonym"
                },
                {
                    "name": "bA16H23.2 (collagen, type XVII, alpha 1 (BP180))",
                    "type": "synonym"
                },
                {
                    "name": "bullous pemphigoid antigen 2 (180kD)",
                    "type": "synonym"
                },
                {
                    "name": "collagen XVII, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XVII) chain",
                    "type": "synonym"
                },
                {
                    "name": "type XVII collagen alpha-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL17A1",
                    "type": "recommended"
                },
                {
                    "name": "BA16H23.2",
                    "type": "synonym"
                },
                {
                    "name": "BP180",
                    "type": "synonym"
                },
                {
                    "name": "BPA-2",
                    "type": "synonym"
                },
                {
                    "name": "BPAG2",
                    "type": "synonym"
                },
                {
                    "name": "COL17A1",
                    "type": "synonym"
                },
                {
                    "name": "EBR2A",
                    "type": "synonym"
                },
                {
                    "name": "ERED",
                    "type": "synonym"
                },
                {
                    "name": "JEB-I",
                    "type": "synonym"
                },
                {
                    "name": "JEB4",
                    "type": "synonym"
                },
                {
                    "name": "LAD-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMD9-1",
            "evidence": [
                {
                    "id": "122400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/122400"
                },
                {
                    "id": "0070337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K449-1",
            "uniprot_ac": "A0A0G2K449",
            "uniprot_id": "A0A0G2K449_RAT",
            "refseq_ac": "NP_001402769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XVII) chain",
                    "type": "recommended"
                },
                {
                    "name": "180 kDa bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "Bullous pemphigoid antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XVII) chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XVII) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XVII, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type XVII, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col17a1",
                    "type": "recommended"
                },
                {
                    "name": "Col17a1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K449-1",
            "evidence": [
                {
                    "id": "0070337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55068-1",
            "uniprot_ac": "P55068",
            "uniprot_id": "PGCB_RAT",
            "refseq_ac": "NP_001028837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Brevican core protein",
                    "type": "recommended"
                },
                {
                    "name": "BEHAB",
                    "type": "synonym"
                },
                {
                    "name": "Brain-enriched hyaluronan-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "brain-enriched hyaluronan-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "brevican (brain specific proteoglycan in the aggrecan family)",
                    "type": "synonym"
                },
                {
                    "name": "brevican core protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "brevican core protein-like",
                    "type": "synonym"
                },
                {
                    "name": "brevican core protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcan",
                    "type": "recommended"
                },
                {
                    "name": "ALPBRE",
                    "type": "synonym"
                },
                {
                    "name": "BEHAB",
                    "type": "synonym"
                },
                {
                    "name": "Bcan",
                    "type": "synonym"
                },
                {
                    "name": "Behab",
                    "type": "synonym"
                },
                {
                    "name": "LOC100910284",
                    "type": "synonym"
                }
            ],
            "record_id": "P55068-1",
            "evidence": [
                {
                    "id": "0070337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070337"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070337"
}