{
    "disease_id": "DOID:0111790",
    "recommended_name": {
        "id": "DOID:0111790",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111790",
        "name": "congenital nystagmus 1",
        "description": "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0111790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111790",
            "name": "NYS1",
            "description": ""
        },
        {
            "id": "DOID:0111790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111790",
            "name": "X-linked infantile nystagmus 1",
            "description": ""
        },
        {
            "id": "DOID:0111790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111790",
            "name": "congenital motor nystagmus 1",
            "description": ""
        },
        {
            "id": "MONDO:0010693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010693",
            "name": "nystagmus 1, congenital, X-linked",
            "description": "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene."
        },
        {
            "id": "MONDO:0010693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010693",
            "name": "FRMD7 congenital nystagmus",
            "description": ""
        },
        {
            "id": "MONDO:0010693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010693",
            "name": "congenital nystagmus caused by mutation in FRMD7",
            "description": ""
        },
        {
            "id": "MONDO:0010693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010693",
            "name": "nystagmus 1, congenital, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010693",
            "name": "NYS1",
            "description": ""
        },
        {
            "id": "MONDO:0010693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010693",
            "name": "Nystagmus 1, congenital, X- linked",
            "description": ""
        },
        {
            "id": "MONDO:0010693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010693",
            "name": "Nystagmus, infantile idiopathic",
            "description": ""
        },
        {
            "id": "MIM:310700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310700",
            "name": "Nystagmus 1, congenital, X-linked",
            "description": "Nystagmus 1, congenital, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111790"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111790",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111790",
            "categories": []
        },
        {
            "id": "MONDO:0010693",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010693",
            "categories": []
        },
        {
            "id": "MIM:310700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/310700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BL62-1",
            "uniprot_ac": "A0A8M2BL62",
            "uniprot_id": "A0A8M2BL62_DANRE",
            "refseq_ac": "XP_005173955",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frmd7",
                    "type": "recommended"
                },
                {
                    "name": "frmd7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153674",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BL62-1",
            "evidence": [
                {
                    "id": "0111790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AD83-1",
            "uniprot_ac": "A2AD83",
            "uniprot_id": "FRMD7_MOUSE",
            "refseq_ac": "NP_001177261",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmd7",
                    "type": "recommended"
                },
                {
                    "name": "EG665849",
                    "type": "synonym"
                },
                {
                    "name": "Frmd7",
                    "type": "synonym"
                },
                {
                    "name": "Gm1533",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AD83-1",
            "evidence": [
                {
                    "id": "0111790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZUT3-1",
            "uniprot_ac": "Q6ZUT3",
            "uniprot_id": "FRMD7_HUMAN",
            "refseq_ac": "NP_001293122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "FERM domain-containing protein 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FERM domain-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRMD7",
                    "type": "recommended"
                },
                {
                    "name": "FRMD7",
                    "type": "synonym"
                },
                {
                    "name": "NYS1",
                    "type": "synonym"
                },
                {
                    "name": "NYS",
                    "type": "synonym"
                },
                {
                    "name": "XIPAN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZUT3-1",
            "evidence": [
                {
                    "id": "310700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/310700"
                },
                {
                    "id": "0111790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M1Y3-1",
            "uniprot_ac": "F1M1Y3",
            "uniprot_id": "F1M1Y3_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": "FERM domain containing 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmd7",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M1Y3-1",
            "evidence": [
                {
                    "id": "0111790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JQT5-1",
            "uniprot_ac": "A8JQT5",
            "uniprot_id": "A8JQT5_DROME",
            "refseq_ac": "NP_001097685",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Moesin/ezrin/radixin homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "CG44193-PG",
                    "type": "synonym"
                },
                {
                    "name": "Cdep-PG",
                    "type": "synonym"
                },
                {
                    "name": "Chondrocyte-derived ezrin-like domain containing protein ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Chondrocyte-derived ezrin-like domain containing protein, isoform G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdep",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT26639",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH50880",
                    "type": "synonym"
                },
                {
                    "name": "CDEP",
                    "type": "synonym"
                },
                {
                    "name": "CG1283",
                    "type": "synonym"
                },
                {
                    "name": "CG2008",
                    "type": "synonym"
                },
                {
                    "name": "CG31536",
                    "type": "synonym"
                },
                {
                    "name": "CG34306",
                    "type": "synonym"
                },
                {
                    "name": "CG44193",
                    "type": "synonym"
                },
                {
                    "name": "Cdep",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44193",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44193",
                    "type": "synonym"
                },
                {
                    "name": "cdep",
                    "type": "synonym"
                },
                {
                    "name": "i23",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JQT5-1",
            "evidence": [
                {
                    "id": "0111790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111790"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111790"
}