{
    "disease_id": "DOID:0060456",
    "recommended_name": {
        "id": "DOID:0060456",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060456",
        "name": "Schnyder corneal dystrophy",
        "description": "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0060456",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060456",
            "name": "SCCD",
            "description": ""
        },
        {
            "id": "DOID:0060456",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060456",
            "name": "Schnyder crystalline corneal dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060456",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060456",
            "name": "corneal dystrophy crystalline of Schnyder",
            "description": ""
        },
        {
            "id": "DOID:0060456",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060456",
            "name": "crystalline stromal dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060456",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060456",
            "name": "hereditary crystalline stromal dystrophy of Schnyder",
            "description": ""
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "Schnyder corneal dystrophy",
            "description": "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity."
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "SCCD",
            "description": ""
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "SCD",
            "description": ""
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "Schnyder corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "Schnyder crystalline corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "Schnyder crystalline dystrophy sine crystals",
            "description": ""
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "corneal dystrophy, Schnyder type",
            "description": ""
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "crystalline stromal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "name": "hereditary crystalline stromal dystrophy of Schnyder",
            "description": ""
        },
        {
            "id": "MIM:121800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/121800",
            "name": "Corneal dystrophy, Schnyder type",
            "description": "Corneal dystrophy, Schnyder type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060456"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060456",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060456",
            "categories": []
        },
        {
            "id": "MONDO:0007374",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007374",
            "categories": []
        },
        {
            "id": "MIM:121800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/121800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FB98-1",
            "uniprot_ac": "E7FB98",
            "uniprot_id": "UBIA1_DANRE",
            "refseq_ac": "NP_001186655",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UbiA prenyltransferase domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "Protein barolo",
                    "type": "synonym"
                },
                {
                    "name": "Protein reddish",
                    "type": "synonym"
                },
                {
                    "name": "barolo",
                    "type": "synonym"
                },
                {
                    "name": "bar",
                    "type": "synonym"
                },
                {
                    "name": "protein barolo",
                    "type": "synonym"
                },
                {
                    "name": "protein reddish",
                    "type": "synonym"
                },
                {
                    "name": "ubiA prenyltransferase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "unm t31131",
                    "type": "synonym"
                },
                {
                    "name": "unm_t31131",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ubiad1",
                    "type": "recommended"
                },
                {
                    "name": "bar",
                    "type": "synonym"
                },
                {
                    "name": "reh",
                    "type": "synonym"
                },
                {
                    "name": "ubiad1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc30e12",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FB98-1",
            "evidence": [
                {
                    "id": "0060456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DC60-1",
            "uniprot_ac": "Q9DC60",
            "uniprot_id": "UBIA1_MOUSE",
            "refseq_ac": "NP_082149",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UbiA prenyltransferase domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "transitional epithelia response protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiA prenyltransferase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ubiad1",
                    "type": "recommended"
                },
                {
                    "name": "1200002M06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tere1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiad1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DC60-1",
            "evidence": [
                {
                    "id": "0060456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5Z9-1",
            "uniprot_ac": "Q9Y5Z9",
            "uniprot_id": "UBIA1_HUMAN",
            "refseq_ac": "NP_001317279",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UbiA prenyltransferase domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "Transitional epithelial response protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transitional epithelia response protein",
                    "type": "synonym"
                },
                {
                    "name": "transitional epithelial response protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiA prenyltransferase domain-containing protein 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ubiA prenyltransferase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBIAD1",
                    "type": "recommended"
                },
                {
                    "name": "SCCD",
                    "type": "synonym"
                },
                {
                    "name": "TERE1",
                    "type": "synonym"
                },
                {
                    "name": "UBIAD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5Z9-1",
            "evidence": [
                {
                    "id": "121800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/121800"
                },
                {
                    "id": "0060456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZG27-1",
            "uniprot_ac": "D3ZG27",
            "uniprot_id": "UBIA1_RAT",
            "refseq_ac": "NP_001101463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "UbiA prenyltransferase domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "ubiA prenyltransferase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ubiad1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309588",
                    "type": "synonym"
                },
                {
                    "name": "Ubiad1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZG27-1",
            "evidence": [
                {
                    "id": "0060456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3R8-1",
            "uniprot_ac": "Q9V3R8",
            "uniprot_id": "UBIA1_DROME",
            "refseq_ac": "NP_523581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "UbiA prenyltransferase domain-containing protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5876-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein heixuedian",
                    "type": "synonym"
                },
                {
                    "name": "heix-PA",
                    "type": "synonym"
                },
                {
                    "name": "heixuedian",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)35Fc",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "heix",
                    "type": "recommended"
                },
                {
                    "name": "124/1",
                    "type": "synonym"
                },
                {
                    "name": "2L1",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS02740.7",
                    "type": "synonym"
                },
                {
                    "name": "CG5876",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5876",
                    "type": "synonym"
                },
                {
                    "name": "heix",
                    "type": "synonym"
                },
                {
                    "name": "ipa-6d",
                    "type": "synonym"
                },
                {
                    "name": "l(2)35Fc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k12401",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3R8-1",
            "evidence": [
                {
                    "id": "0060456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060456"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060456"
}