{
    "disease_id": "DOID:0081276",
    "recommended_name": {
        "id": "DOID:0081276",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081276",
        "name": "cerebellar atrophy, visual impairment, and psychomotor retardation",
        "description": "A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0081276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081276",
            "name": "CAVIPMR",
            "description": ""
        },
        {
            "id": "MONDO:0014811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014811",
            "name": "cerebellar atrophy, visual impairment, and psychomotor retardation;",
            "description": ""
        },
        {
            "id": "MONDO:0014811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014811",
            "name": "CAVIPMR",
            "description": ""
        },
        {
            "id": "MIM:616875",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616875",
            "name": "Cerebellar atrophy, visual impairment, and psychomotor retardation",
            "description": "Cerebellar atrophy, visual impairment, and psychomotor retardation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081276"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081276",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081276",
            "categories": []
        },
        {
            "id": "MONDO:0014811",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014811",
            "categories": []
        },
        {
            "id": "MIM:616875",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616875",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PDY1-1",
            "uniprot_ac": "A0A8M9PDY1",
            "uniprot_id": "A0A8M9PDY1_DANRE",
            "refseq_ac": "XP_021329317",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER membrane protein complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "ER membrane protein complex subunit 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "emc1",
                    "type": "recommended"
                },
                {
                    "name": "emc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PDY1-1",
            "evidence": [
                {
                    "id": "0081276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C7X2-1",
            "uniprot_ac": "Q8C7X2",
            "uniprot_id": "EMC1_MOUSE",
            "refseq_ac": "NP_001034289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER membrane protein complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "ER membrane protein complex subunit 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "novel DUF1620 domain containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emc1",
                    "type": "recommended"
                },
                {
                    "name": "2700016F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Emc1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0090",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C7X2-1",
            "evidence": [
                {
                    "id": "0081276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N766-1",
            "uniprot_ac": "Q8N766",
            "uniprot_id": "EMC1_HUMAN",
            "refseq_ac": "NP_001258356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER membrane protein complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "ER membrane protein complex subunit 1 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMC1",
                    "type": "recommended"
                },
                {
                    "name": "CAVIPMR",
                    "type": "synonym"
                },
                {
                    "name": "EMC1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0090",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0263",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N766-1",
            "evidence": [
                {
                    "id": "616875",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616875"
                },
                {
                    "id": "0081276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25574-1",
            "uniprot_ac": "P25574",
            "uniprot_id": "EMC1_YEAST",
            "refseq_ac": "NP_009884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER membrane protein complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Emc1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMC1",
                    "type": "recommended"
                },
                {
                    "name": "EMC1",
                    "type": "synonym"
                },
                {
                    "name": "YCL315",
                    "type": "synonym"
                },
                {
                    "name": "YCL45C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25574-1",
            "evidence": [
                {
                    "id": "0081276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A994-1",
            "uniprot_ac": "D4A994",
            "uniprot_id": "D4A994_RAT",
            "refseq_ac": "NP_001102160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER membrane protein complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "ER membrane protein complex subunit 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emc1",
                    "type": "recommended"
                },
                {
                    "name": "Emc1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310427",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A994-1",
            "evidence": [
                {
                    "id": "0081276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHY6-1",
            "uniprot_ac": "Q9VHY6",
            "uniprot_id": "Q9VHY6_DROME",
            "refseq_ac": "NP_001287215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER membrane protein complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CG2943-PB",
                    "type": "synonym"
                },
                {
                    "name": "EMC1-PB",
                    "type": "synonym"
                },
                {
                    "name": "ER membrane protein complex 1",
                    "type": "synonym"
                },
                {
                    "name": "ER membrane protein complex subunit 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum membrane protein complex 1",
                    "type": "synonym"
                },
                {
                    "name": "subunit 1 of EMC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMC1",
                    "type": "recommended"
                },
                {
                    "name": "CG2943",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2943",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2943",
                    "type": "synonym"
                },
                {
                    "name": "EMC1",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs09f06",
                    "type": "synonym"
                },
                {
                    "name": "emc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHY6-1",
            "evidence": [
                {
                    "id": "0081276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081276"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081276"
}