{
    "disease_id": "DOID:0110864",
    "recommended_name": {
        "id": "DOID:0110864",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110864",
        "name": "congenital stationary night blindness 1F",
        "description": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110864",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110864",
            "name": "CSNB1F",
            "description": ""
        },
        {
            "id": "DOID:0110864",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110864",
            "name": "congenital stationary night blindness 1F autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014026",
            "name": "congenital stationary night blindness 1F",
            "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene."
        },
        {
            "id": "MONDO:0014026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014026",
            "name": "CSNB1F",
            "description": ""
        },
        {
            "id": "MONDO:0014026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014026",
            "name": "LRIT3 congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0014026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014026",
            "name": "congenital stationary night blindness caused by mutation in LRIT3",
            "description": ""
        },
        {
            "id": "MONDO:0014026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014026",
            "name": "congenital stationary night blindness type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0014026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014026",
            "name": "night blindness, congenital stationary (complete), 1F, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014026",
            "name": "night blindness, congenital stationary, type 1F",
            "description": ""
        },
        {
            "id": "MIM:615058",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615058",
            "name": "Night blindness, congenital stationary, 1F",
            "description": "Night blindness, congenital stationary, 1F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110864"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110864",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110864",
            "categories": []
        },
        {
            "id": "MONDO:0014026",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014026",
            "categories": []
        },
        {
            "id": "MIM:615058",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615058",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "W8DXL4-1",
            "uniprot_ac": "W8DXL4",
            "uniprot_id": "LRIT3_MOUSE",
            "refseq_ac": "NP_001274153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrit3",
                    "type": "recommended"
                },
                {
                    "name": "Gm421",
                    "type": "synonym"
                },
                {
                    "name": "Lrit3",
                    "type": "synonym"
                }
            ],
            "record_id": "W8DXL4-1",
            "evidence": [
                {
                    "id": "0110864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3SXY7-1",
            "uniprot_ac": "Q3SXY7",
            "uniprot_id": "LRIT3_HUMAN",
            "refseq_ac": "NP_940908",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "fibronectin type III, immunoglobulin and leucine rich repeat domains 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat, immunoglobulin-like and transmembrane domains 3",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRIT3",
                    "type": "recommended"
                },
                {
                    "name": "CSNB1F",
                    "type": "synonym"
                },
                {
                    "name": "FIGLER4",
                    "type": "synonym"
                },
                {
                    "name": "LRIT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3SXY7-1",
            "evidence": [
                {
                    "id": "615058",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615058"
                },
                {
                    "id": "0110864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1W2Q648-1",
            "uniprot_ac": "A0A1W2Q648",
            "uniprot_id": "A0A1W2Q648_RAT",
            "refseq_ac": "XP_006232069",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat, Ig-like and transmembrane domains 3",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrit3",
                    "type": "recommended"
                },
                {
                    "name": "Lrit3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1W2Q648-1",
            "evidence": [
                {
                    "id": "0110864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110864"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110864"
}