{
    "disease_id": "DOID:0111170",
    "recommended_name": {
        "id": "DOID:0111170",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111170",
        "name": "autosomal dominant sensory ataxia 1",
        "description": "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8."
    },
    "synonyms": [
        {
            "id": "DOID:0111170",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111170",
            "name": "ADSA",
            "description": ""
        },
        {
            "id": "DOID:0111170",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111170",
            "name": "SNAX1",
            "description": ""
        },
        {
            "id": "MONDO:0012166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012166",
            "name": "autosomal dominant sensory ataxia 1",
            "description": "Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene."
        },
        {
            "id": "MONDO:0012166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012166",
            "name": "ADSA",
            "description": ""
        },
        {
            "id": "MONDO:0012166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012166",
            "name": "RNF170 hereditary ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012166",
            "name": "SNAX1",
            "description": ""
        },
        {
            "id": "MONDO:0012166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012166",
            "name": "hereditary ataxia caused by mutation in RNF170",
            "description": ""
        },
        {
            "id": "MONDO:0012166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012166",
            "name": "ataxia, sensory, 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:608984",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608984",
            "name": "Ataxia, sensory, 1, autosomal dominant",
            "description": "Ataxia, sensory, 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111170"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111170",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111170",
            "categories": []
        },
        {
            "id": "MONDO:0012166",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012166",
            "categories": []
        },
        {
            "id": "MIM:608984",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608984",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SZN2-1",
            "uniprot_ac": "Q7SZN2",
            "uniprot_id": "RN170_DANRE",
            "refseq_ac": "NP_999915",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 170",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF170",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnf170",
                    "type": "recommended"
                },
                {
                    "name": "rnf170",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65779",
                    "type": "synonym"
                },
                {
                    "name": "zgc:76995",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SZN2-1",
            "evidence": [
                {
                    "id": "0111170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CBG9-1",
            "uniprot_ac": "Q8CBG9",
            "uniprot_id": "RN170_MOUSE",
            "refseq_ac": "NP_001344221",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF170 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 170",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF170",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf170",
                    "type": "recommended"
                },
                {
                    "name": "6720407G21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rnf170",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CBG9-1",
            "evidence": [
                {
                    "id": "0111170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96K19-1",
            "uniprot_ac": "Q96K19",
            "uniprot_id": "RN170_HUMAN",
            "refseq_ac": "NP_001153695",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF170 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "synonym"
                },
                {
                    "name": "Putative LAG1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 170",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF170",
                    "type": "synonym"
                },
                {
                    "name": "putative LAG1-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF170",
                    "type": "recommended"
                },
                {
                    "name": "ADSA",
                    "type": "synonym"
                },
                {
                    "name": "RNF170",
                    "type": "synonym"
                },
                {
                    "name": "SNAX1",
                    "type": "synonym"
                },
                {
                    "name": "SPG85",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96K19-1",
            "evidence": [
                {
                    "id": "608984",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608984"
                },
                {
                    "id": "0111170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZKY1-1",
            "uniprot_ac": "A0A8I5ZKY1",
            "uniprot_id": "A0A8I5ZKY1_RAT",
            "refseq_ac": "XP_006253391",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF170 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 170",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF170",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf170",
                    "type": "recommended"
                },
                {
                    "name": "Rnf170",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZKY1-1",
            "evidence": [
                {
                    "id": "0111170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111170"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111170"
}