{
    "disease_id": "DOID:0111745",
    "recommended_name": {
        "id": "DOID:0111745",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111745",
        "name": "cerebellar ataxia type 43",
        "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111745",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111745",
            "name": "SCA43",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "spinocerebellar ataxia 43",
            "description": "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor."
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "MME autosomal dominant cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "SCA43",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "autosomal dominant cerebellar ataxia caused by mutation in MME",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "spinocerebellar ataxia 43",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "spinocerebellar ataxia 43; SCA43",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "spinocerebellar ataxia type 43",
            "description": ""
        },
        {
            "id": "MIM:617018",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617018",
            "name": "Spinocerebellar ataxia 43",
            "description": "Spinocerebellar ataxia 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111745"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111745",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111745",
            "categories": []
        },
        {
            "id": "MONDO:0014867",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "categories": []
        },
        {
            "id": "MIM:617018",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617018",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61391-1",
            "uniprot_ac": "Q61391",
            "uniprot_id": "NEP_MOUSE",
            "refseq_ac": "NP_001276391",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neprilysin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.11",
                    "type": "synonym"
                },
                {
                    "name": "Atriopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Enkephalinase",
                    "type": "synonym"
                },
                {
                    "name": "NEP",
                    "type": "synonym"
                },
                {
                    "name": "Neutral endopeptidase 24.11",
                    "type": "synonym"
                },
                {
                    "name": "Neutral endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "SFE",
                    "type": "synonym"
                },
                {
                    "name": "Skin fibroblast elastase",
                    "type": "synonym"
                },
                {
                    "name": "atriopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "common acute lymphoblastic leukemia antigen",
                    "type": "synonym"
                },
                {
                    "name": "enkephalinase",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin",
                    "type": "synonym"
                },
                {
                    "name": "neutral endopeptidase 24.11",
                    "type": "synonym"
                },
                {
                    "name": "skin fibroblast elastase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mme",
                    "type": "recommended"
                },
                {
                    "name": "6030454K05Rik",
                    "type": "synonym"
                },
                {
                    "name": "CALLA",
                    "type": "synonym"
                },
                {
                    "name": "CD10",
                    "type": "synonym"
                },
                {
                    "name": "Mme",
                    "type": "synonym"
                },
                {
                    "name": "NEP",
                    "type": "synonym"
                },
                {
                    "name": "SFE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61391-1",
            "evidence": [
                {
                    "id": "0111745",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08473-1",
            "uniprot_ac": "P08473",
            "uniprot_id": "NEP_HUMAN",
            "refseq_ac": "NP_000893",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neprilysin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.11",
                    "type": "synonym"
                },
                {
                    "name": "Atriopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "CALLA",
                    "type": "synonym"
                },
                {
                    "name": "Common acute lymphocytic leukemia antigen",
                    "type": "synonym"
                },
                {
                    "name": "Enkephalinase",
                    "type": "synonym"
                },
                {
                    "name": "NEP",
                    "type": "synonym"
                },
                {
                    "name": "Neutral endopeptidase 24.11",
                    "type": "synonym"
                },
                {
                    "name": "Neutral endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "SFE",
                    "type": "synonym"
                },
                {
                    "name": "Skin fibroblast elastase",
                    "type": "synonym"
                },
                {
                    "name": "atriopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "common acute lymphocytic leukemia antigen",
                    "type": "synonym"
                },
                {
                    "name": "membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin-390",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin-411",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin",
                    "type": "synonym"
                },
                {
                    "name": "neutral endopeptidase 24.11",
                    "type": "synonym"
                },
                {
                    "name": "skin fibroblast elastase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MME",
                    "type": "recommended"
                },
                {
                    "name": "CALLA",
                    "type": "synonym"
                },
                {
                    "name": "CD10",
                    "type": "synonym"
                },
                {
                    "name": "CMT2T",
                    "type": "synonym"
                },
                {
                    "name": "EPN",
                    "type": "synonym"
                },
                {
                    "name": "MME",
                    "type": "synonym"
                },
                {
                    "name": "NEP",
                    "type": "synonym"
                },
                {
                    "name": "SCA43",
                    "type": "synonym"
                },
                {
                    "name": "SFE",
                    "type": "synonym"
                }
            ],
            "record_id": "P08473-1",
            "evidence": [
                {
                    "id": "617018",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617018"
                },
                {
                    "id": "0111745",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07861-1",
            "uniprot_ac": "P07861",
            "uniprot_id": "NEP_RAT",
            "refseq_ac": "NP_036740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neprilysin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.11",
                    "type": "synonym"
                },
                {
                    "name": "Atriopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Enkephalinase",
                    "type": "synonym"
                },
                {
                    "name": "NEP",
                    "type": "synonym"
                },
                {
                    "name": "Neutral endopeptidase 24.11",
                    "type": "synonym"
                },
                {
                    "name": "Neutral endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "SFE",
                    "type": "synonym"
                },
                {
                    "name": "Skin fibroblast elastase",
                    "type": "synonym"
                },
                {
                    "name": "atriopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "membrane metallo-endopeptidase (neutral endopeptidase/enkephalinase)",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin",
                    "type": "synonym"
                },
                {
                    "name": "neutral endopeptidase 24.11",
                    "type": "synonym"
                },
                {
                    "name": "skin fibroblast elastase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mme",
                    "type": "recommended"
                },
                {
                    "name": "CD10",
                    "type": "synonym"
                },
                {
                    "name": "Mme",
                    "type": "synonym"
                },
                {
                    "name": "Nep",
                    "type": "synonym"
                },
                {
                    "name": "SFE",
                    "type": "synonym"
                }
            ],
            "record_id": "P07861-1",
            "evidence": [
                {
                    "id": "0111745",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T062-1",
            "uniprot_ac": "Q8T062",
            "uniprot_id": "NEP4_DROME",
            "refseq_ac": "NP_001262773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neprilysin-4",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.11",
                    "type": "synonym"
                },
                {
                    "name": "CG4058-PC",
                    "type": "synonym"
                },
                {
                    "name": "Nep4-PC",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin 4, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin 4",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nep4",
                    "type": "recommended"
                },
                {
                    "name": "CG4058",
                    "type": "synonym"
                },
                {
                    "name": "DmeNEP4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4058",
                    "type": "synonym"
                },
                {
                    "name": "NEP4",
                    "type": "synonym"
                },
                {
                    "name": "Nep4A",
                    "type": "synonym"
                },
                {
                    "name": "Nep4",
                    "type": "synonym"
                },
                {
                    "name": "dNEP4",
                    "type": "synonym"
                },
                {
                    "name": "nep4B",
                    "type": "synonym"
                },
                {
                    "name": "nep4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T062-1",
            "evidence": [
                {
                    "id": "0111745",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W436-1",
            "uniprot_ac": "Q9W436",
            "uniprot_id": "NEP_DROME",
            "refseq_ac": "NP_001284925",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neprilysin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.11",
                    "type": "synonym"
                },
                {
                    "name": "CG5905-PC",
                    "type": "synonym"
                },
                {
                    "name": "Nep1-PC",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nep1",
                    "type": "recommended"
                },
                {
                    "name": "CG5894",
                    "type": "synonym"
                },
                {
                    "name": "CG5905",
                    "type": "synonym"
                },
                {
                    "name": "CG5914",
                    "type": "synonym"
                },
                {
                    "name": "DmeNEP1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5905",
                    "type": "synonym"
                },
                {
                    "name": "NEP1",
                    "type": "synonym"
                },
                {
                    "name": "NEP",
                    "type": "synonym"
                },
                {
                    "name": "Nep1",
                    "type": "synonym"
                },
                {
                    "name": "dNEP1",
                    "type": "synonym"
                },
                {
                    "name": "nep1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W436-1",
            "evidence": [
                {
                    "id": "0111745",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K692-1",
            "uniprot_ac": "A0A0B4K692",
            "uniprot_id": "NEP2_DROME",
            "refseq_ac": "NP_001246914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neprilysin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.11",
                    "type": "synonym"
                },
                {
                    "name": "CG9761-PB",
                    "type": "synonym"
                },
                {
                    "name": "Nep2-PB",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin 2",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nep2",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH07643",
                    "type": "synonym"
                },
                {
                    "name": "CG9761",
                    "type": "synonym"
                },
                {
                    "name": "DmNEP2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9761",
                    "type": "synonym"
                },
                {
                    "name": "NEP2",
                    "type": "synonym"
                },
                {
                    "name": "Nep2",
                    "type": "synonym"
                },
                {
                    "name": "dNEP2",
                    "type": "synonym"
                },
                {
                    "name": "nep2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K692-1",
            "evidence": [
                {
                    "id": "0111745",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14656-1",
            "uniprot_ac": "O14656",
            "uniprot_id": "TOR1A_HUMAN",
            "refseq_ac": "NP_000104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-1A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Torsin ATPase-1A",
                    "type": "synonym"
                },
                {
                    "name": "Torsin family 1 member A",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 1, torsion (autosomal dominant",
                    "type": "synonym"
                },
                {
                    "name": "torsin A)",
                    "type": "synonym"
                },
                {
                    "name": "torsin ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "torsin ATPase-1A",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOR1A",
                    "type": "recommended"
                },
                {
                    "name": "AMC5",
                    "type": "synonym"
                },
                {
                    "name": "DQ2",
                    "type": "synonym"
                },
                {
                    "name": "DYT1",
                    "type": "synonym"
                },
                {
                    "name": "TA",
                    "type": "synonym"
                },
                {
                    "name": "TOR1A",
                    "type": "synonym"
                },
                {
                    "name": "TORA",
                    "type": "synonym"
                }
            ],
            "record_id": "O14656-1",
            "evidence": [
                {
                    "id": "0111745",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111745"
}