{
    "disease_id": "DOID:0080849",
    "recommended_name": {
        "id": "DOID:0080849",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080849",
        "name": "ocular motor apraxia, Cogan type",
        "description": "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements."
    },
    "synonyms": [
        {
            "id": "MONDO:0009764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "name": "ocular motor apraxia, Cogan type",
            "description": "Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type."
        },
        {
            "id": "MONDO:0009764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "name": "oculomotor apraxia, Cogan type",
            "description": ""
        },
        {
            "id": "MONDO:0009764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "name": "oculomotor apraxia, congenital, Cogan-type",
            "description": ""
        },
        {
            "id": "MONDO:0009764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "name": "COMA",
            "description": ""
        },
        {
            "id": "MONDO:0009764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "name": "Cogan's syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "name": "congenital oculomotor apraxia",
            "description": ""
        },
        {
            "id": "MONDO:0009764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "name": "oculomotor apraxia Cogan type",
            "description": ""
        },
        {
            "id": "MONDO:0009764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "name": "saccade initiation failure congenital",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080849"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080849",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080849",
            "categories": []
        },
        {
            "id": "MONDO:0009764",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009764",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B4A1-1",
            "uniprot_ac": "A0A8M2B4A1",
            "uniprot_id": "A0A8M2B4A1_DANRE",
            "refseq_ac": "XP_005157551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell adhesion molecule DSCAML1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cell adhesion molecule DSCAML1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dscaml1",
                    "type": "recommended"
                },
                {
                    "name": "dscaml1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B4A1-1",
            "evidence": [
                {
                    "id": "0080849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4VA61-1",
            "uniprot_ac": "Q4VA61",
            "uniprot_id": "DSCL1_MOUSE",
            "refseq_ac": "NP_001074739",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell adhesion molecule DSCAML1",
                    "type": "recommended"
                },
                {
                    "name": "Down syndrome cell adhesion molecule like 1",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome cell adhesion molecule-like protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell adhesion molecule DSCAML1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cell adhesion molecule DSCAML1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dscaml1",
                    "type": "recommended"
                },
                {
                    "name": "4921507G06Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930435C18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dscaml1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1132",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4VA61-1",
            "evidence": [
                {
                    "id": "0080849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZPL7-1",
            "uniprot_ac": "D3ZPL7",
            "uniprot_id": "D3ZPL7_RAT",
            "refseq_ac": "NP_001101611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell adhesion molecule DSCAML1",
                    "type": "recommended"
                },
                {
                    "name": "Down syndrome cell adhesion molecule-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome cell adhesion molecule-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cell adhesion molecule DSCAML1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dscaml1",
                    "type": "recommended"
                },
                {
                    "name": "Dscaml1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KSE9-1",
            "uniprot_ac": "Q7KSE9",
            "uniprot_id": "Q7KSE9_DROME",
            "refseq_ac": "NP_996226",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31190-PE",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome cell adhesion molecule 3, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Dscam3-PE",
                    "type": "synonym"
                },
                {
                    "name": "down syndrome cell adhesion molecule 3, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dscam3",
                    "type": "recommended"
                },
                {
                    "name": "CG12536",
                    "type": "synonym"
                },
                {
                    "name": "CG31190",
                    "type": "synonym"
                },
                {
                    "name": "CG8106",
                    "type": "synonym"
                },
                {
                    "name": "CT33960",
                    "type": "synonym"
                },
                {
                    "name": "DSCAM",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31190",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31190",
                    "type": "synonym"
                },
                {
                    "name": "Dscam-like",
                    "type": "synonym"
                },
                {
                    "name": "Dscam3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KSE9-1",
            "evidence": [
                {
                    "id": "0080849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PHS6-1",
            "uniprot_ac": "M9PHS6",
            "uniprot_id": "M9PHS6_DROME",
            "refseq_ac": "NP_001261571",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42330-PI",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome cell adhesion molecule 4, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome cell adhesion molecule 4, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "Dscam4-PI",
                    "type": "synonym"
                },
                {
                    "name": "down syndrome cell adhesion molecule 4, isoform I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dscam4",
                    "type": "recommended"
                },
                {
                    "name": "CG13672",
                    "type": "synonym"
                },
                {
                    "name": "CG18630",
                    "type": "synonym"
                },
                {
                    "name": "CG33274",
                    "type": "synonym"
                },
                {
                    "name": "CG42330",
                    "type": "synonym"
                },
                {
                    "name": "CG7060",
                    "type": "synonym"
                },
                {
                    "name": "CT21829",
                    "type": "synonym"
                },
                {
                    "name": "DSCAM",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42330",
                    "type": "synonym"
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                    "name": "Dmel_CG42330",
                    "type": "synonym"
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                    "name": "Dscam4",
                    "type": "synonym"
                }
            ],
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                    "id": "0080849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E9H9-1",
            "uniprot_ac": "Q0E9H9",
            "uniprot_id": "DSCA1_DROME",
            "refseq_ac": "NP_001036491",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell adhesion molecule Dscam1",
                    "type": "recommended"
                },
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                    "name": "CG17800-PY",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome cell adhesion molecule homolog",
                    "type": "synonym"
                },
                {
                    "name": "Down's syndrome cell adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "Dscam1-PY",
                    "type": "synonym"
                },
                {
                    "name": "down syndrome cell adhesion molecule 1, isoform Y",
                    "type": "synonym"
                },
                {
                    "name": "down syndrome cell adhesion molecule",
                    "type": "synonym"
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                {
                    "name": "down syndrome cell-adhesion molecule",
                    "type": "synonym"
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                {
                    "name": "drosophila down syndrome cell adhesion molecule 1",
                    "type": "synonym"
                },
                {
                    "name": "dscam",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)43Bc",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dscam1",
                    "type": "recommended"
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                {
                    "name": "43Bc",
                    "type": "synonym"
                },
                {
                    "name": "CG17800",
                    "type": "synonym"
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                {
                    "name": "CT39257",
                    "type": "synonym"
                },
                {
                    "name": "DSCAM1",
                    "type": "synonym"
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                {
                    "name": "DSCAM",
                    "type": "synonym"
                },
                {
                    "name": "DScam",
                    "type": "synonym"
                },
                {
                    "name": "DmDscam",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:13579",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:13612",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG17800",
                    "type": "synonym"
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                    "name": "Dmel_CG17800",
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                    "name": "Dscam-hv",
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                    "name": "Dscam1",
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                {
                    "name": "Dscam",
                    "type": "synonym"
                },
                {
                    "name": "Dsm",
                    "type": "synonym"
                },
                {
                    "name": "Neu1",
                    "type": "synonym"
                },
                {
                    "name": "dScam",
                    "type": "synonym"
                },
                {
                    "name": "dscam1",
                    "type": "synonym"
                },
                {
                    "name": "dscam",
                    "type": "synonym"
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                {
                    "name": "l(2)05518",
                    "type": "synonym"
                },
                {
                    "name": "l(2)43Bc",
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                },
                {
                    "name": "p270",
                    "type": "synonym"
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            ],
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                {
                    "id": "0080849",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS29-1",
            "uniprot_ac": "Q9VS29",
            "uniprot_id": "DSCL_DROME",
            "refseq_ac": "NP_001036588",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Cell adhesion molecule Dscam2",
                    "type": "recommended"
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                    "name": "CG42256-PI",
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                {
                    "name": "Down syndrome cell adhesion molecule-like protein Dscam2",
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                    "name": "Dscam2",
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                    "name": "BcDNA:AT03867",
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                },
                {
                    "name": "CG14828",
                    "type": "synonym"
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                    "name": "CG17742",
                    "type": "synonym"
                },
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                    "name": "CG32387",
                    "type": "synonym"
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                    "name": "CG32389",
                    "type": "synonym"
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                    "name": "CG42256",
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                    "name": "CG8618",
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                    "type": "synonym"
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                    "type": "synonym"
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "DSCAM",
                    "type": "synonym"
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                    "name": "Dmel\\CG42256",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG42256",
                    "type": "synonym"
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                    "name": "Dscam-like",
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                    "name": "Dscam2",
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                    "id": "0080849",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080849"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q8TD84-1",
            "uniprot_ac": "Q8TD84",
            "uniprot_id": "DSCL1_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Cell adhesion molecule DSCAML1",
                    "type": "recommended"
                },
                {
                    "name": "Down syndrome cell adhesion molecule 2",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome cell adhesion molecule-like protein 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DSCAML1",
                    "type": "recommended"
                },
                {
                    "name": "DSCAM2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1132",
                    "type": "synonym"
                }
            ],
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                    "id": "0080849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080849"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080849"
}