{
    "disease_id": "DOID:0050950",
    "recommended_name": {
        "id": "DOID:0050950",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050950",
        "name": "autosomal recessive cerebellar ataxia",
        "description": "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance."
    },
    "synonyms": [
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "autosomal recessive spinocerebellar ataxia 2",
            "description": "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training."
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "PMPCA autosomal recessive congenital cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "SCAR2",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "autosomal recessive spinocerebellar ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "CPD3",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "CPDIII",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "cerebellar granular cell hypoplasia and mental retardation, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "spinocerebellar ataxia, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MIM:213200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/213200",
            "name": "Spinocerebellar ataxia, autosomal recessive, 2",
            "description": "Spinocerebellar ataxia, autosomal recessive, 2"
        }
    ],
    "children": [
        {
            "id": "DOID:0050754",
            "label": "early-onset ataxia with oculomotor apraxia and hypoalbuminemia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050755",
            "label": "spinocerebellar ataxia with axonal neuropathy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050946",
            "label": "Charlevoix-Saguenay spastic ataxia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050999",
            "label": "autosomal recessive spinocerebellar ataxia 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060557",
            "label": "ataxia-oculomotor apraxia 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060694",
            "label": "Cayman type cerebellar ataxia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070409",
            "label": "autosomal recessive spinocerebellar ataxia 28",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070410",
            "label": "autosomal recessive spinocerebellar ataxia 29",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070411",
            "label": "autosomal recessive spinocerebellar ataxia 30",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070412",
            "label": "autosomal recessive spinocerebellar ataxia 31",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070413",
            "label": "autosomal recessive spinocerebellar ataxia 32",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070465",
            "label": "autosomal recessive spinocerebellar ataxia with axonal neuropathy 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070558",
            "label": "autosomal recessive spinocerebellar ataxia 34",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070721",
            "label": "Valence-Farazi cerebellar ataxia syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080029",
            "label": "autosomal recessive spinocerebellar ataxia 16",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080042",
            "label": "autosomal recessive spinocerebellar ataxia 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080057",
            "label": "autosomal recessive spinocerebellar ataxia 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080058",
            "label": "autosomal recessive spinocerebellar ataxia 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080059",
            "label": "autosomal recessive spinocerebellar ataxia 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080060",
            "label": "autosomal recessive spinocerebellar ataxia 12",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080061",
            "label": "autosomal recessive spinocerebellar ataxia 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080062",
            "label": "autosomal recessive spinocerebellar ataxia 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080063",
            "label": "autosomal recessive spinocerebellar ataxia 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080064",
            "label": "autosomal recessive spinocerebellar ataxia 17",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080065",
            "label": "autosomal recessive spinocerebellar ataxia 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080066",
            "label": "autosomal recessive spinocerebellar ataxia 20",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080259",
            "label": "autosomal recessive spinocerebellar ataxia 25",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080260",
            "label": "autosomal recessive spinocerebellar ataxia 26",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081383",
            "label": "ataxia-oculomotor apraxia 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081384",
            "label": "ataxia-telangiectasia-like disorder 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081385",
            "label": "ataxia-telangiectasia-like disorder 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090115",
            "label": "spinocerebellar ataxia with axonal neuropathy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111155",
            "label": "autosomal recessive spinocerebellar ataxia 21",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111611",
            "label": "autosomal recessive spinocerebellar ataxia 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111613",
            "label": "autosomal recessive spinocerebellar ataxia 23",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111614",
            "label": "autosomal recessive spinocerebellar ataxia 22",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111615",
            "label": "autosomal recessive spinocerebellar ataxia 24",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111616",
            "label": "autosomal recessive spinocerebellar ataxia 27",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111618",
            "label": "autosomal recessive spinocerebellar ataxia 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:12704",
            "label": "ataxia telangiectasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:12705",
            "label": "Friedreich ataxia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111218",
                    "label": "Friedreich ataxia 1",
                    "link_status": true,
                    "children": []
                }
            ]
        }
    ],
    "id_list": [
        "DOID:0080063",
        "DOID:0070410",
        "DOID:0080060",
        "DOID:0080065",
        "DOID:0080064",
        "DOID:0080260",
        "DOID:0111614",
        "DOID:0090115",
        "DOID:0080057",
        "DOID:0070465",
        "DOID:12704",
        "DOID:0080029",
        "DOID:0111615",
        "DOID:0070413",
        "DOID:0081384",
        "DOID:0050946",
        "DOID:0070411",
        "DOID:0080061",
        "DOID:0050755",
        "DOID:0080059",
        "DOID:0080066",
        "DOID:0111155",
        "DOID:0070558",
        "DOID:0050950",
        "DOID:0111618",
        "DOID:0080259",
        "DOID:0050754",
        "DOID:0070409",
        "DOID:12705",
        "DOID:0060694",
        "DOID:0050999",
        "DOID:0111218",
        "DOID:0070721",
        "DOID:0060557",
        "DOID:0081385",
        "DOID:0070412",
        "DOID:0111613",
        "DOID:0081383",
        "DOID:0111616",
        "DOID:0080058",
        "DOID:0080062",
        "DOID:0080042",
        "DOID:0111611"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050950",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050950",
            "categories": []
        },
        {
            "id": "MONDO:0008943",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "categories": []
        },
        {
            "id": "MIM:213200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/213200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q803Y4-1",
            "uniprot_ac": "Q803Y4",
            "uniprot_id": "UFM1_DANRE",
            "refseq_ac": "NP_997792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "ubiquitin-fold modifier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ufm1",
                    "type": "recommended"
                },
                {
                    "name": "BM-002",
                    "type": "synonym"
                },
                {
                    "name": "ubfm1",
                    "type": "synonym"
                },
                {
                    "name": "ufm1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa10f05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb72g01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55335",
                    "type": "synonym"
                }
            ],
            "record_id": "Q803Y4-1",
            "evidence": [
                {
                    "id": "0050950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1N3E4-1",
            "uniprot_ac": "A0A8M1N3E4",
            "uniprot_id": "A0A8M1N3E4_DANRE",
            "refseq_ac": "NP_001007456",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thg1l",
                    "type": "recommended"
                },
                {
                    "name": "thg1l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101609",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N3E4-1",
            "evidence": [
                {
                    "id": "0050950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61961-1",
            "uniprot_ac": "P61961",
            "uniprot_id": "UFM1_MOUSE",
            "refseq_ac": "NP_080711",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "ubiquitin-fold modifier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufm1",
                    "type": "recommended"
                },
                {
                    "name": "1810045K17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm10726",
                    "type": "synonym"
                },
                {
                    "name": "Ufm1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61961-1",
            "evidence": [
                {
                    "id": "0050950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CY52-1",
            "uniprot_ac": "Q9CY52",
            "uniprot_id": "THG1_MOUSE",
            "refseq_ac": "NP_001074438",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "interphase cyctoplasmic foci protein 45",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thg1l",
                    "type": "recommended"
                },
                {
                    "name": "Thg1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CY52-1",
            "evidence": [
                {
                    "id": "0050950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q10713-1",
            "uniprot_ac": "Q10713",
            "uniprot_id": "MPPA_HUMAN",
            "refseq_ac": "NP_001269873",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial-processing peptidase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-MPP",
                    "type": "synonym"
                },
                {
                    "name": "Cerebellar ataxia-1",
                    "type": "synonym"
                },
                {
                    "name": "Inactive zinc metalloprotease alpha",
                    "type": "synonym"
                },
                {
                    "name": "P-55",
                    "type": "synonym"
                },
                {
                    "name": "cerebellar ataxia 1 (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "inactive zinc metalloprotease alpha",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate-5-phosphatase, 72 kD",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial matrix processing protease, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "peptidase, mitochondrial processing alpha subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMPCA",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-MPP",
                    "type": "synonym"
                },
                {
                    "name": "CLA1",
                    "type": "synonym"
                },
                {
                    "name": "CPD3",
                    "type": "synonym"
                },
                {
                    "name": "INPP5E",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0123",
                    "type": "synonym"
                },
                {
                    "name": "MAS2",
                    "type": "synonym"
                },
                {
                    "name": "MPPA",
                    "type": "synonym"
                },
                {
                    "name": "P-55",
                    "type": "synonym"
                },
                {
                    "name": "PMPCA",
                    "type": "synonym"
                },
                {
                    "name": "SCAR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q10713-1",
            "evidence": [
                {
                    "id": "213200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/213200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53215-1",
            "uniprot_ac": "P53215",
            "uniprot_id": "THG1_YEAST",
            "refseq_ac": "NP_011538",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "tRNA guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THG1",
                    "type": "recommended"
                },
                {
                    "name": "THG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53215-1",
            "evidence": [
                {
                    "id": "0050950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BJP3-1",
            "uniprot_ac": "Q5BJP3",
            "uniprot_id": "UFM1_RAT",
            "refseq_ac": "NP_001119552",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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}