{
    "disease_id": "DOID:0060451",
    "recommended_name": {
        "id": "DOID:0060451",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060451",
        "name": "Meesmann corneal dystrophy",
        "description": "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium."
    },
    "synonyms": [
        {
            "id": "DOID:0060451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060451",
            "name": "MECD",
            "description": ""
        },
        {
            "id": "DOID:0060451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060451",
            "name": "Stocker-Holt dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060451",
            "name": "juvenile hereditary epithelial dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0020791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020791",
            "name": "corneal dystrophy, Meesmann, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020791",
            "name": "MECD1",
            "description": ""
        },
        {
            "id": "MIM:122100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/122100",
            "name": "Corneal dystrophy, Meesmann 1",
            "description": "Corneal dystrophy, Meesmann 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080670",
            "label": "Meesmann corneal dystrophy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080671",
            "label": "Meesmann corneal dystrophy 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080671",
        "DOID:0060451",
        "DOID:0080670"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060451",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060451",
            "categories": []
        },
        {
            "id": "MONDO:0020791",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020791",
            "categories": []
        },
        {
            "id": "MIM:122100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/122100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99456-1",
            "uniprot_ac": "Q99456",
            "uniprot_id": "K1C12_HUMAN",
            "refseq_ac": "NP_000214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 12",
                    "type": "recommended"
                },
                {
                    "name": "CK-12",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-12",
                    "type": "synonym"
                },
                {
                    "name": "K12",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-12",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-12",
                    "type": "synonym"
                },
                {
                    "name": "keratin 12, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT12",
                    "type": "recommended"
                },
                {
                    "name": "K12",
                    "type": "synonym"
                },
                {
                    "name": "KRT12",
                    "type": "synonym"
                },
                {
                    "name": "MECD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99456-1",
            "evidence": [
                {
                    "id": "122100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/122100"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060451"
}
