{
    "disease_id": "DOID:0070411",
    "recommended_name": {
        "id": "DOID:0070411",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070411",
        "name": "autosomal recessive spinocerebellar ataxia 30",
        "description": "An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15."
    },
    "synonyms": [
        {
            "id": "DOID:0070411",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070411",
            "name": "SCAR30",
            "description": ""
        },
        {
            "id": "MONDO:0030318",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030318",
            "name": "spinocerebellar ataxia, autosomal recessive 30",
            "description": ""
        },
        {
            "id": "MONDO:0030318",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030318",
            "name": "SCAR30",
            "description": ""
        },
        {
            "id": "MONDO:0030318",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030318",
            "name": "spinocerebellar ataxia, autosomal recessive 30",
            "description": ""
        },
        {
            "id": "MIM:619405",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619405",
            "name": "Spinocerebellar ataxia, autosomal recessive, 30",
            "description": "Spinocerebellar ataxia, autosomal recessive, 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070411"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070411",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070411",
            "categories": []
        },
        {
            "id": "MONDO:0030318",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030318",
            "categories": []
        },
        {
            "id": "MIM:619405",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619405",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVZ6-1",
            "uniprot_ac": "Q7ZVZ6",
            "uniprot_id": "PREP_DANRE",
            "refseq_ac": "NP_998652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presequence protease, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Pitrilysin metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "pitrilysin metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "presequence protease, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "presequence protease, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pitrm1",
                    "type": "recommended"
                },
                {
                    "name": "pitrm1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa03d09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55469",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVZ6-1",
            "evidence": [
                {
                    "id": "0070411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K411-1",
            "uniprot_ac": "Q8K411",
            "uniprot_id": "PREP_MOUSE",
            "refseq_ac": "NP_660113",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presequence protease, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Pitrilysin metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear transplantation upregulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pitrilysin metalloprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "pitrilysin metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "presequence protease, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "presequence protease, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitrm1",
                    "type": "recommended"
                },
                {
                    "name": "2310012C15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1104",
                    "type": "synonym"
                },
                {
                    "name": "MP-1",
                    "type": "synonym"
                },
                {
                    "name": "MP1",
                    "type": "synonym"
                },
                {
                    "name": "Ntup1",
                    "type": "synonym"
                },
                {
                    "name": "Pitrm1",
                    "type": "synonym"
                },
                {
                    "name": "PreP",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1104",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K411-1",
            "evidence": [
                {
                    "id": "0070411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JRX3-1",
            "uniprot_ac": "Q5JRX3",
            "uniprot_id": "PREP_HUMAN",
            "refseq_ac": "NP_001229236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presequence protease, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Metalloprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "Pitrilysin metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "PreP peptidasome",
                    "type": "synonym"
                },
                {
                    "name": "hMP1",
                    "type": "synonym"
                },
                {
                    "name": "hPreP",
                    "type": "synonym"
                },
                {
                    "name": "metalloprotease 1 (pitrilysin family)",
                    "type": "synonym"
                },
                {
                    "name": "pitrilysin metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "presequence protease, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "presequence protease, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PITRM1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1104",
                    "type": "synonym"
                },
                {
                    "name": "MP1",
                    "type": "synonym"
                },
                {
                    "name": "PITRM1",
                    "type": "synonym"
                },
                {
                    "name": "PREP",
                    "type": "synonym"
                },
                {
                    "name": "PreP",
                    "type": "synonym"
                },
                {
                    "name": "SCAR30",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JRX3-1",
            "evidence": [
                {
                    "id": "619405",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619405"
                },
                {
                    "id": "0070411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32898-1",
            "uniprot_ac": "P32898",
            "uniprot_id": "PREP_YEAST",
            "refseq_ac": "NP_010718",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presequence protease, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Metalloprotease of 112 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Pitrilysin metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "PreP",
                    "type": "synonym"
                },
                {
                    "name": "Protease M",
                    "type": "synonym"
                },
                {
                    "name": "pitrilysin family metalloprotease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYM1",
                    "type": "recommended"
                },
                {
                    "name": "CYM1",
                    "type": "synonym"
                },
                {
                    "name": "D9461.18",
                    "type": "synonym"
                },
                {
                    "name": "MOP112",
                    "type": "synonym"
                }
            ],
            "record_id": "P32898-1",
            "evidence": [
                {
                    "id": "0070411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K6D5-1",
            "uniprot_ac": "A0A0G2K6D5",
            "uniprot_id": "A0A0G2K6D5_RAT",
            "refseq_ac": "NP_001402089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presequence protease, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Pitrilysin metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "pitrilysin metallepetidase 1",
                    "type": "synonym"
                },
                {
                    "name": "pitrilysin metalloprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "presequence protease, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "presequence protease, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitrm1",
                    "type": "recommended"
                },
                {
                    "name": "Pitrm1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K6D5-1",
            "evidence": [
                {
                    "id": "0070411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9E3-1",
            "uniprot_ac": "Q9V9E3",
            "uniprot_id": "PREP_DROME",
            "refseq_ac": "NP_001036470",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presequence protease, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3107-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3107",
                    "type": "recommended"
                },
                {
                    "name": "CG3107",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3107",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3107",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9E3-1",
            "evidence": [
                {
                    "id": "0070411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070411"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070411"
}