{
    "disease_id": "DOID:0060275",
    "recommended_name": {
        "id": "DOID:0060275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060275",
        "name": "pontocerebellar hypoplasia type 6",
        "description": "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "pontocerebellar hypoplasia type 6",
            "description": "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis."
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "PCH6",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "RARS2 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "fatal infantile encephalopathy with mitochondrial respiratory chain defects",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "pontocerebellar hypoplasia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "encephalopathy fatal infantile with mitochondrial respiratory chain defects",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "pontocerebellar hypoplasia, type 6",
            "description": ""
        },
        {
            "id": "MIM:611523",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611523",
            "name": "Pontocerebellar hypoplasia 6",
            "description": "Pontocerebellar hypoplasia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060275"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060275",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060275",
            "categories": []
        },
        {
            "id": "MONDO:0012683",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "categories": []
        },
        {
            "id": "MIM:611523",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611523",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AVZ0-1",
            "uniprot_ac": "A0A8M3AVZ0",
            "uniprot_id": "A0A8M3AVZ0_DANRE",
            "refseq_ac": "XP_009292803",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable arginine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "probable arginine--tRNA ligase, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rars2",
                    "type": "recommended"
                },
                {
                    "name": "CH73-317M8.1",
                    "type": "synonym"
                },
                {
                    "name": "rars2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63702",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AVZ0-1",
            "evidence": [
                {
                    "id": "0060275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U186-1",
            "uniprot_ac": "Q3U186",
            "uniprot_id": "SYRM_MOUSE",
            "refseq_ac": "NP_852071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable arginine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "argRS",
                    "type": "synonym"
                },
                {
                    "name": "arginine--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "arginyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "probable arginine--tRNA ligase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "probable arginine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable arginyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rars2",
                    "type": "recommended"
                },
                {
                    "name": "1500002I10Rik",
                    "type": "synonym"
                },
                {
                    "name": "PRO1992",
                    "type": "synonym"
                },
                {
                    "name": "Rars2",
                    "type": "synonym"
                },
                {
                    "name": "Rarsl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U186-1",
            "evidence": [
                {
                    "id": "0060275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T160-1",
            "uniprot_ac": "Q5T160",
            "uniprot_id": "SYRM_HUMAN",
            "refseq_ac": "NP_064716",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable arginine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "probable arginine--tRNA ligase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "probable arginine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable arginyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RARS2",
                    "type": "recommended"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "DALRD2",
                    "type": "synonym"
                },
                {
                    "name": "PCH6",
                    "type": "synonym"
                },
                {
                    "name": "PRO1992",
                    "type": "synonym"
                },
                {
                    "name": "RARS2",
                    "type": "synonym"
                },
                {
                    "name": "RARSL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T160-1",
            "evidence": [
                {
                    "id": "611523",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611523"
                },
                {
                    "id": "0060275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38714-1",
            "uniprot_ac": "P38714",
            "uniprot_id": "SYRM_YEAST",
            "refseq_ac": "NP_011959",
            "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": "Arginine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "arginine--tRNA ligase MSR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSR1",
                    "type": "recommended"
                },
                {
                    "name": "MSR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38714-1",
            "evidence": [
                {
                    "id": "0060275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05506-1",
            "uniprot_ac": "Q05506",
            "uniprot_id": "SYRC_YEAST",
            "refseq_ac": "",
            "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": "Arginine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D9651.10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05506-1",
            "evidence": [
                {
                    "id": "0060275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FFR1-1",
            "uniprot_ac": "F7FFR1",
            "uniprot_id": "F7FFR1_RAT",
            "refseq_ac": "XP_006238048",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable arginine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "probable arginine--tRNA ligase, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rars2",
                    "type": "recommended"
                },
                {
                    "name": "Rars2",
                    "type": "synonym"
                },
                {
                    "name": "Rarsl",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FFR1-1",
            "evidence": [
                {
                    "id": "0060275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060275"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060275"
}