{
    "disease_id": "DOID:0070556",
    "recommended_name": {
        "id": "DOID:0070556",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070556",
        "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1",
        "description": "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "CAMRQ syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "CAMRQ1",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "DES-VLDLR",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "VLDLR cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "VLDLR-CH",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "VLDLR-associated cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "cerebellar hypoplasia, VLDLR-associated",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "dysequilibrium syndrome-VLDLR",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
            "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene."
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "VLDLR dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "dysequilibrium syndrome caused by mutation in VLDLR",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "CAMRQ1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, congenital, and mental retardation, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:224050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224050",
            "name": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1",
            "description": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070556"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070556",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070556",
            "categories": []
        },
        {
            "id": "MONDO:0024542",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "categories": []
        },
        {
            "id": "MIM:224050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/224050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B1M8-1",
            "uniprot_ac": "A0A8M2B1M8",
            "uniprot_id": "A0A8M2B1M8_DANRE",
            "refseq_ac": "XP_005155618",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very low-density lipoprotein receptor",
                    "type": "recommended"
                },
                {
                    "name": "very low-density lipoprotein receptor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vldlr",
                    "type": "recommended"
                },
                {
                    "name": "vldlr",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55792",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B1M8-1",
            "evidence": [
                {
                    "id": "0070556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98156-1",
            "uniprot_ac": "P98156",
            "uniprot_id": "VLDLR_MOUSE",
            "refseq_ac": "NP_001154892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very low-density lipoprotein receptor",
                    "type": "recommended"
                },
                {
                    "name": "VLDL receptor",
                    "type": "synonym"
                },
                {
                    "name": "VLDL-R",
                    "type": "synonym"
                },
                {
                    "name": "very low-density lipoprotein receptor isoform b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vldlr",
                    "type": "recommended"
                },
                {
                    "name": "Vldlr",
                    "type": "synonym"
                }
            ],
            "record_id": "P98156-1",
            "evidence": [
                {
                    "id": "0070556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98155-1",
            "uniprot_ac": "P98155",
            "uniprot_id": "VLDLR_HUMAN",
            "refseq_ac": "NP_001018066",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very low-density lipoprotein receptor",
                    "type": "recommended"
                },
                {
                    "name": "VLDL receptor",
                    "type": "synonym"
                },
                {
                    "name": "VLDL-R",
                    "type": "synonym"
                },
                {
                    "name": "very low-density lipoprotein receptor isoform b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VLDLR",
                    "type": "recommended"
                },
                {
                    "name": "CAMRQ1",
                    "type": "synonym"
                },
                {
                    "name": "CARMQ1",
                    "type": "synonym"
                },
                {
                    "name": "CHRMQ1",
                    "type": "synonym"
                },
                {
                    "name": "VLDL-R",
                    "type": "synonym"
                },
                {
                    "name": "VLDLRCH",
                    "type": "synonym"
                },
                {
                    "name": "VLDLR",
                    "type": "synonym"
                }
            ],
            "record_id": "P98155-1",
            "evidence": [
                {
                    "id": "224050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/224050"
                },
                {
                    "id": "0070556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98166-1",
            "uniprot_ac": "P98166",
            "uniprot_id": "VLDLR_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very low-density lipoprotein receptor",
                    "type": "recommended"
                },
                {
                    "name": "VLDL receptor",
                    "type": "synonym"
                },
                {
                    "name": "VLDL-R",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vldlr",
                    "type": "recommended"
                }
            ],
            "record_id": "P98166-1",
            "evidence": [
                {
                    "id": "0070556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JRD0-1",
            "uniprot_ac": "A8JRD0",
            "uniprot_id": "A8JRD0_DROME",
            "refseq_ac": "NP_001097934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31094-PK",
                    "type": "synonym"
                },
                {
                    "name": "Lipophorin receptor 1, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "LpR1-PK",
                    "type": "synonym"
                },
                {
                    "name": "lipophorin receptor 1, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "lipophorin receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LpR1",
                    "type": "recommended"
                },
                {
                    "name": "CG31094",
                    "type": "synonym"
                },
                {
                    "name": "CG31095",
                    "type": "synonym"
                },
                {
                    "name": "CG4861",
                    "type": "synonym"
                },
                {
                    "name": "CG4870",
                    "type": "synonym"
                },
                {
                    "name": "CG4874",
                    "type": "synonym"
                },
                {
                    "name": "CT15569",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31094",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31094",
                    "type": "synonym"
                },
                {
                    "name": "LpR1",
                    "type": "synonym"
                },
                {
                    "name": "lpr1",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JRD0-1",
            "evidence": [
                {
                    "id": "0070556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070556"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070556"
}