{
    "disease_id": "DOID:0110868",
    "recommended_name": {
        "id": "DOID:0110868",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110868",
        "name": "congenital stationary night blindness 1D",
        "description": "A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110868",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110868",
            "name": "CSNB1D",
            "description": ""
        },
        {
            "id": "DOID:0110868",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110868",
            "name": "congenital stationary night blindness 1D autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "name": "congenital stationary night blindness 1D",
            "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene."
        },
        {
            "id": "MONDO:0013450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "name": "CSNB1D",
            "description": ""
        },
        {
            "id": "MONDO:0013450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "name": "SLC24A1 congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0013450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "name": "congenital stationary night blindness 1D",
            "description": ""
        },
        {
            "id": "MONDO:0013450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "name": "congenital stationary night blindness caused by mutation in SLC24A1",
            "description": ""
        },
        {
            "id": "MONDO:0013450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "name": "congenital stationary night blindness type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0013450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "name": "night blindness, congenital stationary (complete), 1D, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "name": "night blindness, congenital stationary, type 1D",
            "description": ""
        },
        {
            "id": "MIM:613830",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613830",
            "name": "Night blindness, congenital stationary, 1D",
            "description": "Night blindness, congenital stationary, 1D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110868"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110868",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110868",
            "categories": []
        },
        {
            "id": "MONDO:0013450",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013450",
            "categories": []
        },
        {
            "id": "MIM:613830",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613830",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AJK7-1",
            "uniprot_ac": "A0A8M3AJK7",
            "uniprot_id": "A0A8M3AJK7_DANRE",
            "refseq_ac": "XP_009291877",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger 1",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Retinal rod Na-Ca+K exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 24 member 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc24a1",
                    "type": "recommended"
                },
                {
                    "name": "slc24a1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AJK7-1",
            "evidence": [
                {
                    "id": "0110868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WD8-1",
            "uniprot_ac": "Q91WD8",
            "uniprot_id": "NCKX1_MOUSE",
            "refseq_ac": "NP_659062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger 1",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Retinal rod Na-Ca+K exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 24 member 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod Na-Ca+K exchanger",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 24 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc24a1",
                    "type": "recommended"
                },
                {
                    "name": "Nckx1",
                    "type": "synonym"
                },
                {
                    "name": "Slc24a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WD8-1",
            "evidence": [
                {
                    "id": "0110868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60721-1",
            "uniprot_ac": "O60721",
            "uniprot_id": "NCKX1_HUMAN",
            "refseq_ac": "NP_001287962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger 1",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Na/Ca-K exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "Retinal rod Na-Ca+K exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 24 member 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod Na+/Ca+/K+ exchanger",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 1 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 24 (sodium/potassium/calcium exchanger), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC24A1",
                    "type": "recommended"
                },
                {
                    "name": "CSNB1D",
                    "type": "synonym"
                },
                {
                    "name": "HsT17412",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0702",
                    "type": "synonym"
                },
                {
                    "name": "NCKX1",
                    "type": "synonym"
                },
                {
                    "name": "NCKX",
                    "type": "synonym"
                },
                {
                    "name": "RODX",
                    "type": "synonym"
                },
                {
                    "name": "SLC24A1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60721-1",
            "evidence": [
                {
                    "id": "613830",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613830"
                },
                {
                    "id": "0110868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZM6-1",
            "uniprot_ac": "Q9QZM6",
            "uniprot_id": "NCKX1_RAT",
            "refseq_ac": "NP_064475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger 1",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Retinal rod Na-Ca+K exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 24 member 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal Na/Ca,K exchanger",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod Na-Ca+K exchanger",
                    "type": "synonym"
                },
                {
                    "name": "sodium/calcium/potassium exchanger",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 24 (sodium/potassium/calcium exchanger), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc24a1",
                    "type": "recommended"
                },
                {
                    "name": "Nckx1",
                    "type": "synonym"
                },
                {
                    "name": "Slc24a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZM6-1",
            "evidence": [
                {
                    "id": "0110868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U6A0-1",
            "uniprot_ac": "Q9U6A0",
            "uniprot_id": "NCKX_DROME",
            "refseq_ac": "NP_001188761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger Nckx30C",
                    "type": "recommended"
                },
                {
                    "name": "CG18660-PE",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein Nckx30C",
                    "type": "synonym"
                },
                {
                    "name": "Nckx30C, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Nckx30C-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nckx30C",
                    "type": "recommended"
                },
                {
                    "name": "CG18660",
                    "type": "synonym"
                },
                {
                    "name": "CG4106",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18660",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18660",
                    "type": "synonym"
                },
                {
                    "name": "NcKX30C",
                    "type": "synonym"
                },
                {
                    "name": "NcKx30C",
                    "type": "synonym"
                },
                {
                    "name": "NckX30C",
                    "type": "synonym"
                },
                {
                    "name": "Nckx30C",
                    "type": "synonym"
                },
                {
                    "name": "Nckx30c",
                    "type": "synonym"
                },
                {
                    "name": "Nck",
                    "type": "synonym"
                },
                {
                    "name": "potassium-dependent sodium/calcium",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U6A0-1",
            "evidence": [
                {
                    "id": "0110868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110868"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110868"
}