{
    "disease_id": "DOID:0060649",
    "recommended_name": {
        "id": "DOID:0060649",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060649",
        "name": "congenital hereditary endothelial dystrophy of cornea",
        "description": "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane."
    },
    "synonyms": [
        {
            "id": "DOID:0060649",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060649",
            "name": "CHED",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "congenital hereditary endothelial dystrophy of cornea",
            "description": "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision."
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "CHED",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "CHED2",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "CHEDII",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "autosomal recessive CHED",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "autosomal recessive congenital hereditary endothelial dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "congenital hereditary endothelial dystrophy of cornea",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "congenital hereditary endothelial dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "corneal endothelial dystrophy, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "infantile hereditary endothelial dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "CHED2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "congenital hereditary endothelial dystrophy of the cornea",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "corneal dystrophy, congenital hereditary endothelial",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "corneal endothelial dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "corneal endothelial dystrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "corneal endothelial dystrophy 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "corneal endothelial dystrophy 2, autosomal recessive, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "name": "corneal endothelial dystrophy type 2",
            "description": ""
        },
        {
            "id": "MIM:217700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/217700",
            "name": "Corneal endothelial dystrophy",
            "description": "Corneal endothelial dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060649"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060649",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060649",
            "categories": []
        },
        {
            "id": "MONDO:0009019",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009019",
            "categories": []
        },
        {
            "id": "MIM:217700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/217700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T691-1",
            "uniprot_ac": "A0AB32T691",
            "uniprot_id": "A0AB32T691_DANRE",
            "refseq_ac": "XP_068068957",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 4 member 11 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 member 11 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc4a11",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-12j14.4",
                    "type": "synonym"
                },
                {
                    "name": "slc4a11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T691-1",
            "evidence": [
                {
                    "id": "0060649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AJN7-1",
            "uniprot_ac": "A2AJN7",
            "uniprot_id": "S4A11_MOUSE",
            "refseq_ac": "NP_001074631",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 4 member 11",
                    "type": "recommended"
                },
                {
                    "name": "NaBC1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium borate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "bicarbonate transporter-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate transporter-like protein 11",
                    "type": "synonym"
                },
                {
                    "name": "sodium borate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 member 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a11",
                    "type": "recommended"
                },
                {
                    "name": "BTR1",
                    "type": "synonym"
                },
                {
                    "name": "NaBC1",
                    "type": "synonym"
                },
                {
                    "name": "Slc4a11",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AJN7-1",
            "evidence": [
                {
                    "id": "0060649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NBS3-3",
            "uniprot_ac": "Q8NBS3",
            "uniprot_id": "S4A11_HUMAN",
            "refseq_ac": "NP_001167560",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 4 member 11",
                    "type": "recommended"
                },
                {
                    "name": "NaBC1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium borate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "bicarbonate transporter related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-coupled borate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 member 11 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium bicarbonate transporter-like, member 11",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium borate transporter, member 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC4A11",
                    "type": "recommended"
                },
                {
                    "name": "BTR1",
                    "type": "synonym"
                },
                {
                    "name": "CDPD1",
                    "type": "synonym"
                },
                {
                    "name": "CHED2",
                    "type": "synonym"
                },
                {
                    "name": "CHED",
                    "type": "synonym"
                },
                {
                    "name": "NABC1",
                    "type": "synonym"
                },
                {
                    "name": "SLC4A11",
                    "type": "synonym"
                },
                {
                    "name": "dJ794I6.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NBS3-3",
            "evidence": [
                {
                    "id": "217700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/217700"
                },
                {
                    "id": "0060649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53838-1",
            "uniprot_ac": "P53838",
            "uniprot_id": "BOR1_YEAST",
            "refseq_ac": "NP_014124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Boron transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Bor1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BOR1",
                    "type": "recommended"
                },
                {
                    "name": "BOR1",
                    "type": "synonym"
                },
                {
                    "name": "N0626",
                    "type": "synonym"
                }
            ],
            "record_id": "P53838-1",
            "evidence": [
                {
                    "id": "0060649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVP9-1",
            "uniprot_ac": "D3ZVP9",
            "uniprot_id": "D3ZVP9_RAT",
            "refseq_ac": "NP_001101245",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 4 member 11",
                    "type": "recommended"
                },
                {
                    "name": "Sodium borate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate transporter-like protein 11",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 member 11",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium bicarbonate transporter-like, member 11",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium borate transporter, member 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a11",
                    "type": "recommended"
                },
                {
                    "name": "Slc4a11",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZVP9-1",
            "evidence": [
                {
                    "id": "0060649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060649"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060649"
}