{
    "disease_id": "DOID:0070721",
    "recommended_name": {
        "id": "DOID:0070721",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070721",
        "name": "Valence-Farazi cerebellar ataxia syndrome",
        "description": "An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070721",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070721",
            "name": "VAFCAS",
            "description": ""
        },
        {
            "id": "MONDO:0980707",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980707",
            "name": "Valence-Farazi cerebellar ataxia syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070721"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070721",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070721",
            "categories": []
        },
        {
            "id": "MONDO:0980707",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980707",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2VWA4-1",
            "uniprot_ac": "Q2VWA4",
            "uniprot_id": "SKOR2_HUMAN",
            "refseq_ac": "NP_001032891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SKI family transcriptional corepressor 2",
                    "type": "recommended"
                },
                {
                    "name": "Functional Smad-suppressing element on chromosome 18",
                    "type": "synonym"
                },
                {
                    "name": "Fussel-18",
                    "type": "synonym"
                },
                {
                    "name": "LBX1 corepressor 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Ladybird homeobox corepressor 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "SKI family transcriptional corepressor 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "functional Smad-suppressing element on chromosome 18",
                    "type": "synonym"
                },
                {
                    "name": "functional smad suppressing element 18",
                    "type": "synonym"
                },
                {
                    "name": "fussel-18",
                    "type": "synonym"
                },
                {
                    "name": "ladybird homeobox corepressor 1-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SKOR2",
                    "type": "recommended"
                },
                {
                    "name": "CH18515",
                    "type": "synonym"
                },
                {
                    "name": "CORL2",
                    "type": "synonym"
                },
                {
                    "name": "FUSSEL18",
                    "type": "synonym"
                },
                {
                    "name": "SKOR2",
                    "type": "synonym"
                },
                {
                    "name": "VAFCAS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2VWA4-1",
            "evidence": [
                {
                    "id": "621386",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621386"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070721"
}