{
    "disease_id": "DOID:0050941",
    "recommended_name": {
        "id": "DOID:0050941",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050941",
        "name": "spastic ataxia 2",
        "description": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia 2",
            "description": "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs."
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "KIF1C spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "SPAX2",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "SPG58",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "autosomal recessive spastic ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia 2",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia caused by mutation in KIF1C",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:611302",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611302",
            "name": "Spastic ataxia 2, autosomal recessive",
            "description": "Spastic ataxia 2, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050941"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050941",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050941",
            "categories": []
        },
        {
            "id": "MONDO:0012651",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "categories": []
        },
        {
            "id": "MIM:611302",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611302",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35071-1",
            "uniprot_ac": "O35071",
            "uniprot_id": "KIF1C_MOUSE",
            "refseq_ac": "NP_694743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF1C",
                    "type": "recommended"
                },
                {
                    "name": "N-3 kinsin",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 1C",
                    "type": "synonym"
                },
                {
                    "name": "kinesin superfamily protein 1C",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1C",
                    "type": "synonym"
                },
                {
                    "name": "lethal factor toxin susceptibility 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif1c",
                    "type": "recommended"
                },
                {
                    "name": "B430105J22Rik",
                    "type": "synonym"
                },
                {
                    "name": "D11Bwg1349e",
                    "type": "synonym"
                },
                {
                    "name": "Kif1c",
                    "type": "synonym"
                },
                {
                    "name": "Ltxs1",
                    "type": "synonym"
                },
                {
                    "name": "Orch3",
                    "type": "synonym"
                }
            ],
            "record_id": "O35071-1",
            "evidence": [
                {
                    "id": "0050941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43896-1",
            "uniprot_ac": "O43896",
            "uniprot_id": "KIF1C_HUMAN",
            "refseq_ac": "NP_006603",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF1C",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF1C",
                    "type": "synonym"
                },
                {
                    "name": "spastic ataxia 2 (autosomal recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF1C",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0706",
                    "type": "synonym"
                },
                {
                    "name": "KIF1C",
                    "type": "synonym"
                },
                {
                    "name": "LTXS1",
                    "type": "synonym"
                },
                {
                    "name": "SATX2",
                    "type": "synonym"
                },
                {
                    "name": "SAX2",
                    "type": "synonym"
                },
                {
                    "name": "SPAX2",
                    "type": "synonym"
                },
                {
                    "name": "SPG58",
                    "type": "synonym"
                }
            ],
            "record_id": "O43896-1",
            "evidence": [
                {
                    "id": "611302",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611302"
                },
                {
                    "id": "0050941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35787-1",
            "uniprot_ac": "O35787",
            "uniprot_id": "KIF1C_RAT",
            "refseq_ac": "NP_665884",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF1C",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-like protein KIF1D",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 1C",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1C",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif1c",
                    "type": "recommended"
                },
                {
                    "name": "Kif1c",
                    "type": "synonym"
                },
                {
                    "name": "Kif1d",
                    "type": "synonym"
                }
            ],
            "record_id": "O35787-1",
            "evidence": [
                {
                    "id": "0050941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAJ2-1",
            "uniprot_ac": "A1ZAJ2",
            "uniprot_id": "KIF1A_DROME",
            "refseq_ac": "NP_001097346",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein unc-104",
                    "type": "recommended"
                },
                {
                    "name": "CG8566-PE",
                    "type": "synonym"
                },
                {
                    "name": "D uncoordinated protein 104",
                    "type": "synonym"
                },
                {
                    "name": "DUnc104",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin4B",
                    "type": "synonym"
                },
                {
                    "name": "Protein immaculate connections",
                    "type": "synonym"
                },
                {
                    "name": "bristly",
                    "type": "synonym"
                },
                {
                    "name": "immaculate connections",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-3",
                    "type": "synonym"
                },
                {
                    "name": "unc-104 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "unc-104-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated 104",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated-104, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc-104",
                    "type": "recommended"
                },
                {
                    "name": "1B",
                    "type": "synonym"
                },
                {
                    "name": "CG8566",
                    "type": "synonym"
                },
                {
                    "name": "DUNC104",
                    "type": "synonym"
                },
                {
                    "name": "DUnc-104",
                    "type": "synonym"
                },
                {
                    "name": "DmCG8566",
                    "type": "synonym"
                },
                {
                    "name": "DmDUnc104",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp53D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8566",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8566",
                    "type": "synonym"
                },
                {
                    "name": "Dunc104",
                    "type": "synonym"
                },
                {
                    "name": "Imac",
                    "type": "synonym"
                },
                {
                    "name": "KIF 1B",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A/1B",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "Kif1a",
                    "type": "synonym"
                },
                {
                    "name": "Klp53D",
                    "type": "synonym"
                },
                {
                    "name": "Unc-104",
                    "type": "synonym"
                },
                {
                    "name": "Unc104",
                    "type": "synonym"
                },
                {
                    "name": "bris",
                    "type": "synonym"
                },
                {
                    "name": "imac",
                    "type": "synonym"
                },
                {
                    "name": "kif1a",
                    "type": "synonym"
                },
                {
                    "name": "unc-104",
                    "type": "synonym"
                },
                {
                    "name": "unc104",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAJ2-1",
            "evidence": [
                {
                    "id": "0050941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050941"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050941"
}