{
    "disease_id": "DOID:0110118",
    "recommended_name": {
        "id": "DOID:0110118",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110118",
        "name": "Leber congenital amaurosis 16",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0110118",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110118",
            "name": "LCA16",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "Leber congenital amaurosis 16",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene."
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "KCNJ13 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "LCA16",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "Leber congenital amaurosis 16",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "Leber congenital amaurosis caused by mutation in KCNJ13",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "Leber congenital amaurosis type 16",
            "description": ""
        },
        {
            "id": "MIM:614186",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614186",
            "name": "Leber congenital amaurosis 16",
            "description": "Leber congenital amaurosis 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110118"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110118",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110118",
            "categories": []
        },
        {
            "id": "MONDO:0013613",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "categories": []
        },
        {
            "id": "MIM:614186",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614186",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HB00-1",
            "uniprot_ac": "A0AC58HB00",
            "uniprot_id": "A0AC58HB00_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 13 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj13",
                    "type": "recommended"
                },
                {
                    "name": "kir7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HB00-1",
            "evidence": [
                {
                    "id": "0110118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86046-1",
            "uniprot_ac": "P86046",
            "uniprot_id": "KCJ13_MOUSE",
            "refseq_ac": "NP_001103697",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 13",
                    "type": "recommended"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 13",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj13",
                    "type": "recommended"
                },
                {
                    "name": "100040591",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj13",
                    "type": "synonym"
                },
                {
                    "name": "Kir7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P86046-1",
            "evidence": [
                {
                    "id": "0110118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60928-1",
            "uniprot_ac": "O60928",
            "uniprot_id": "KCJ13_HUMAN",
            "refseq_ac": "NP_001165887",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 13",
                    "type": "recommended"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 13",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 13 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J, member 13",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ13",
                    "type": "recommended"
                },
                {
                    "name": "KCNJ13",
                    "type": "synonym"
                },
                {
                    "name": "KIR1.4",
                    "type": "synonym"
                },
                {
                    "name": "KIR7.1",
                    "type": "synonym"
                },
                {
                    "name": "LCA16",
                    "type": "synonym"
                },
                {
                    "name": "SVD",
                    "type": "synonym"
                }
            ],
            "record_id": "O60928-1",
            "evidence": [
                {
                    "id": "614186",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614186"
                },
                {
                    "id": "0110118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70617-1",
            "uniprot_ac": "O70617",
            "uniprot_id": "KCJ13_RAT",
            "refseq_ac": "NP_446060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 13",
                    "type": "recommended"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 13",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 13",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 13",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj13",
                    "type": "recommended"
                },
                {
                    "name": "Kcnj13",
                    "type": "synonym"
                },
                {
                    "name": "Kir7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "O70617-1",
            "evidence": [
                {
                    "id": "0110118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110118"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110118"
}