{
    "disease_id": "DOID:0060273",
    "recommended_name": {
        "id": "DOID:0060273",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060273",
        "name": "pontocerebellar hypoplasia type 4",
        "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "pontocerebellar hypoplasia type 4",
            "description": "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death."
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "PCH4",
            "description": ""
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "fatal infantile encephalopathy with olivopontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "olivopontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "encephalopathy fatal infantile with olivopontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "pontocerebellar hypoplasia, type 4",
            "description": ""
        },
        {
            "id": "MIM:225753",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225753",
            "name": "Pontocerebellar hypoplasia 4",
            "description": "Pontocerebellar hypoplasia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060273"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060273",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060273",
            "categories": []
        },
        {
            "id": "MONDO:0009166",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "categories": []
        },
        {
            "id": "MIM:225753",
            "database": "MIM",
            "url": "https://www.omim.org/entry/225753",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C2A2-1",
            "uniprot_ac": "Q8C2A2",
            "uniprot_id": "SEN54_MOUSE",
            "refseq_ac": "NP_083833",
            "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 Sen54",
                    "type": "recommended"
                },
                {
                    "name": "likely ortholog of H. sapiens SEN54L",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease 54 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease Sen54",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen54",
                    "type": "recommended"
                },
                {
                    "name": "0610034P02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sen54",
                    "type": "synonym"
                },
                {
                    "name": "Tsen54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C2A2-1",
            "evidence": [
                {
                    "id": "0060273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z6J9-1",
            "uniprot_ac": "Q7Z6J9",
            "uniprot_id": "SEN54_HUMAN",
            "refseq_ac": "NP_997229",
            "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 Sen54",
                    "type": "recommended"
                },
                {
                    "name": "HsSEN54",
                    "type": "synonym"
                },
                {
                    "name": "SEN54 homolog",
                    "type": "synonym"
                },
                {
                    "name": "TSEN54 tRNA splicing endonuclease subunit",
                    "type": "synonym"
                },
                {
                    "name": "hsSen54",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease Sen54",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSEN54",
                    "type": "recommended"
                },
                {
                    "name": "PCH2A",
                    "type": "synonym"
                },
                {
                    "name": "PCH4",
                    "type": "synonym"
                },
                {
                    "name": "PCH5",
                    "type": "synonym"
                },
                {
                    "name": "SEN54L",
                    "type": "synonym"
                },
                {
                    "name": "SEN54",
                    "type": "synonym"
                },
                {
                    "name": "TSEN54",
                    "type": "synonym"
                },
                {
                    "name": "sen54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z6J9-1",
            "evidence": [
                {
                    "id": "225753",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/225753"
                },
                {
                    "id": "0060273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02825-1",
            "uniprot_ac": "Q02825",
            "uniprot_id": "SEN54_YEAST",
            "refseq_ac": "NP_015242",
            "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-splicing endonuclease subunit SEN54",
                    "type": "recommended"
                },
                {
                    "name": "Splicing endonuclease of 54 kDa",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease subunit SEN54",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease SEN54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEN54",
                    "type": "recommended"
                },
                {
                    "name": "LPF3C",
                    "type": "synonym"
                },
                {
                    "name": "SEN54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02825-1",
            "evidence": [
                {
                    "id": "0060273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AEJ0-1",
            "uniprot_ac": "A0A8I6AEJ0",
            "uniprot_id": "A0A8I6AEJ0_RAT",
            "refseq_ac": "XP_038942804",
            "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 54",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen54 isoform X4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen54",
                    "type": "recommended"
                },
                {
                    "name": "Tsen54",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AEJ0-1",
            "evidence": [
                {
                    "id": "0060273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTV4-1",
            "uniprot_ac": "Q9VTV4",
            "uniprot_id": "Q9VTV4_DROME",
            "refseq_ac": "NP_648559",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5626-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tsen54-PA",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease subunit 54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen54",
                    "type": "recommended"
                },
                {
                    "name": "CG5626",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5626",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5626",
                    "type": "synonym"
                },
                {
                    "name": "TSEN54",
                    "type": "synonym"
                },
                {
                    "name": "Tsen54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTV4-1",
            "evidence": [
                {
                    "id": "0060273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060273"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060273"
}