{
    "disease_id": "DOID:0060269",
    "recommended_name": {
        "id": "DOID:0060269",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060269",
        "name": "pontocerebellar hypoplasia type 2C",
        "description": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "pontocerebellar hypoplasia type 2C",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene."
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "TSEN34 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34",
            "description": ""
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "PCH2C",
            "description": ""
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "pontocerebellar hypoplasia, type 2C",
            "description": ""
        },
        {
            "id": "MIM:612390",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612390",
            "name": "Pontocerebellar hypoplasia 2C",
            "description": "Pontocerebellar hypoplasia 2C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060269"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060269",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060269",
            "categories": []
        },
        {
            "id": "MONDO:0012891",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "categories": []
        },
        {
            "id": "MIM:612390",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612390",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q0E8E7-1",
            "uniprot_ac": "Q0E8E7",
            "uniprot_id": "Q0E8E7_DROME",
            "refseq_ac": "NP_001036605",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG33260-PC; Tsen34-PC",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease subunit 34",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG13470; CG33260; Dmel\\CG33260; TSEN34",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG13470",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG33260",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33260",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33260",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TSEN34",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tsen34",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060269",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BMZ5-1",
            "uniprot_ac": "Q8BMZ5",
            "uniprot_id": "SEN34_MOUSE",
            "refseq_ac": "NP_001157676",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte receptor cluster member 5 homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte receptor cluster (LRC) member 5; tRNA-splicing endonuclease subunit Sen34; tRNA-intron endonuclease Sen34; leukocyte receptor cluster member 5 homolog; tRNA splicing endonuclease 34 homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease Sen34",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34 isoform a",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "0610027F08Rik; Leng5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Leng5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Sen34",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tsen34",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060269",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39707-1",
            "uniprot_ac": "P39707",
            "uniprot_id": "SEN34_YEAST",
            "refseq_ac": "NP_009405",
            "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": "tRNA-splicing endonuclease subunit SEN34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Splicing endonuclease of 34 kDa",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease subunit SEN34",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease SEN34",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEN34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "FUN4",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FUN4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SEN34",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060269",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BSV6-1",
            "uniprot_ac": "Q9BSV6",
            "uniprot_id": "SEN34_HUMAN",
            "refseq_ac": "NP_001070914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HsSen34",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte receptor cluster member 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte receptor cluster (LRC) member 5; tRNA-splicing endonuclease subunit Sen34; CTD-3093M3.1; tRNA-intron endonuclease Sen34; leukocyte receptor cluster member 5; TSEN34 tRNA splicing endonuclease subunit",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease Sen34",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSEN34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "LENG5; PCH2C; SEN34; SEN34L",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LENG5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SEN34",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TSEN34",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060269",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060269"
                },
                {
                    "id": "612390",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2BIL9-1",
            "uniprot_ac": "A2BIL9",
            "uniprot_id": "A2BIL9_DANRE",
            "refseq_ac": "NP_001373676",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease 34 homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-203b8.3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-203b8.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tsen34",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060269",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIB7-1",
            "uniprot_ac": "Q5XIB7",
            "uniprot_id": "Q5XIB7_RAT",
            "refseq_ac": "NP_001006969",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte receptor cluster (LRC) member 5; tRNA splicing endonuclease 34 homolog; TSEN34 tRNA splicing endonuclease subunit; tRNA splicing endonuclease subunit 34-like 1; tRNA-splicing endonuclease subunit Sen34-like",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen34",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen34",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "LENG5; SEN34; Tsen34l1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Tsen34",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060269",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060269"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060269"
}