{
    "disease_id": "DOID:0110870",
    "recommended_name": {
        "id": "DOID:0110870",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110870",
        "name": "congenital stationary night blindness 1A",
        "description": "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4."
    },
    "synonyms": [
        {
            "id": "DOID:0110870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110870",
            "name": "CSNB1A",
            "description": ""
        },
        {
            "id": "DOID:0110870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110870",
            "name": "NBMI",
            "description": ""
        },
        {
            "id": "DOID:0110870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110870",
            "name": "complete CSNB X-linked",
            "description": ""
        },
        {
            "id": "DOID:0110870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110870",
            "name": "congenital stationary night blindness 1A X-linked",
            "description": ""
        },
        {
            "id": "DOID:0110870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110870",
            "name": "congenital stationary night blindness with myopia",
            "description": ""
        },
        {
            "id": "DOID:0110870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110870",
            "name": "hemeralopia-myopia",
            "description": ""
        },
        {
            "id": "DOID:0110870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110870",
            "name": "myopia-night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "congenital stationary night blindness 1A",
            "description": "A congenital stationary night blindness caused by variants in the X-linked NYX gene."
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "CSNB1A",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "NYX congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "NYX-related congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "congenital stationary night blindness caused by mutation in NYX",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "congenital stationary night blindness type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "hemeralopia-myopia",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "myopia-night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "night blindness, congenital stationary, type 1A",
            "description": ""
        },
        {
            "id": "MIM:310500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310500",
            "name": "Night blindness, congenital stationary, 1A",
            "description": "Night blindness, congenital stationary, 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110870"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110870",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110870",
            "categories": []
        },
        {
            "id": "MONDO:0010690",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "categories": []
        },
        {
            "id": "MIM:310500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/310500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P83503-1",
            "uniprot_ac": "P83503",
            "uniprot_id": "NYX_MOUSE",
            "refseq_ac": "NP_775591",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nyctalopin",
                    "type": "recommended"
                },
                {
                    "name": "no b wave",
                    "type": "synonym"
                },
                {
                    "name": "nyctalopin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nyx",
                    "type": "recommended"
                },
                {
                    "name": "CLNP",
                    "type": "synonym"
                },
                {
                    "name": "CSNB1",
                    "type": "synonym"
                },
                {
                    "name": "CSNB4",
                    "type": "synonym"
                },
                {
                    "name": "Nyx",
                    "type": "synonym"
                },
                {
                    "name": "nob",
                    "type": "synonym"
                }
            ],
            "record_id": "P83503-1",
            "evidence": [
                {
                    "id": "0110870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110870"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZU5-1",
            "uniprot_ac": "Q9GZU5",
            "uniprot_id": "NYX_HUMAN",
            "refseq_ac": "NP_001365406",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nyctalopin",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "nyctalopin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NYX",
                    "type": "recommended"
                },
                {
                    "name": "CLRP",
                    "type": "synonym"
                },
                {
                    "name": "CSNB1A",
                    "type": "synonym"
                },
                {
                    "name": "CSNB1",
                    "type": "synonym"
                },
                {
                    "name": "CSNB4",
                    "type": "synonym"
                },
                {
                    "name": "NBM1",
                    "type": "synonym"
                },
                {
                    "name": "NYX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZU5-1",
            "evidence": [
                {
                    "id": "310500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/310500"
                },
                {
                    "id": "0110870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110870"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0KXK8-1",
            "uniprot_ac": "A0ABK0KXK8",
            "uniprot_id": "A0ABK0KXK8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nyctalopin",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Nyx",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0KXK8-1",
            "evidence": [
                {
                    "id": "0110870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110870"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110870"
}