{
    "disease_id": "DOID:0111620",
    "recommended_name": {
        "id": "DOID:0111620",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111620",
        "name": "corneal dystrophy-perceptive deafness syndrome",
        "description": "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "CDPD",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "CDPD1",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "Harboyan syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "corneal endothelial dystrophy and perceptive deafness",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "corneal dystrophy and perceptive deafness",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "corneal dystrophy with progressive deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "corneal dystrophy-perceptive deafness syndrome",
            "description": "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss."
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "CDPD",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "Harboyan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "corneal dystrophy with progressive deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "congenital corneal dystrophy, progressive sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "corneal dystrophy and perceptive deafness",
            "description": ""
        },
        {
            "id": "MIM:217400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/217400",
            "name": "Corneal dystrophy and perceptive deafness",
            "description": "Corneal dystrophy and perceptive deafness"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111620"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111620",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "categories": []
        },
        {
            "id": "MONDO:0009015",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "categories": []
        },
        {
            "id": "MIM:217400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/217400",
            "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": "0111620",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111620"
                }
            ]
        },
        {
            "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": "0111620",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111620"
                }
            ]
        },
        {
            "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": "217400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/217400"
                },
                {
                    "id": "0111620",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111620"
                }
            ]
        },
        {
            "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": "0111620",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111620"
                }
            ]
        },
        {
            "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": "0111620",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111620"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111620"
}