{
    "disease_id": "DOID:0060268",
    "recommended_name": {
        "id": "DOID:0060268",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060268",
        "name": "pontocerebellar hypoplasia type 2B",
        "description": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "pontocerebellar hypoplasia type 2B",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene."
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "TSEN2 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2",
            "description": ""
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "pontocerebellar hypoplasia type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "PCH2B",
            "description": ""
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "pontocerebellar hypoplasia, type 2B",
            "description": ""
        },
        {
            "id": "MIM:612389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612389",
            "name": "Pontocerebellar hypoplasia 2B",
            "description": "Pontocerebellar hypoplasia 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060268"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060268",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060268",
            "categories": []
        },
        {
            "id": "MONDO:0012890",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "categories": []
        },
        {
            "id": "MIM:612389",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612389",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P7W5-1",
            "uniprot_ac": "Q6P7W5",
            "uniprot_id": "SEN2_MOUSE",
            "refseq_ac": "NP_950198",
            "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 Sen2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease Sen2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen2",
                    "type": "recommended"
                },
                {
                    "name": "Sen2",
                    "type": "synonym"
                },
                {
                    "name": "Tsen2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P7W5-1",
            "evidence": [
                {
                    "id": "0060268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NCE0-1",
            "uniprot_ac": "Q8NCE0",
            "uniprot_id": "SEN2_HUMAN",
            "refseq_ac": "NP_001138864",
            "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 Sen2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "HsSen2",
                    "type": "synonym"
                },
                {
                    "name": "TSEN2 tRNA splicing endonuclease subunit",
                    "type": "synonym"
                },
                {
                    "name": "hsSen2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease Sen2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSEN2",
                    "type": "recommended"
                },
                {
                    "name": "PCH2B",
                    "type": "synonym"
                },
                {
                    "name": "SEN2L",
                    "type": "synonym"
                },
                {
                    "name": "SEN2",
                    "type": "synonym"
                },
                {
                    "name": "TSEN2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NCE0-1",
            "evidence": [
                {
                    "id": "612389",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612389"
                },
                {
                    "id": "0060268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16658-1",
            "uniprot_ac": "P16658",
            "uniprot_id": "SEN2_YEAST",
            "refseq_ac": "NP_013206",
            "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 SEN2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "Splicing endonuclease protein 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease subunit SEN2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease SEN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEN2",
                    "type": "recommended"
                },
                {
                    "name": "L8004.12",
                    "type": "synonym"
                },
                {
                    "name": "SEN2",
                    "type": "synonym"
                }
            ],
            "record_id": "P16658-1",
            "evidence": [
                {
                    "id": "0060268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M954-1",
            "uniprot_ac": "Q5M954",
            "uniprot_id": "SEN2_RAT",
            "refseq_ac": "NP_001014079",
            "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 Sen2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "TSEN2 tRNA splicing endonuclease subunit",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron endonuclease Sen2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-intron nuclease 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease subunit Sen2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309946",
                    "type": "synonym"
                },
                {
                    "name": "Tsen2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M954-1",
            "evidence": [
                {
                    "id": "0060268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IP11-1",
            "uniprot_ac": "Q8IP11",
            "uniprot_id": "Q8IP11_DROME",
            "refseq_ac": "NP_723994",
            "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-intron lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "CG31812-PB",
                    "type": "synonym"
                },
                {
                    "name": "Tsen2-PB",
                    "type": "synonym"
                },
                {
                    "name": "tRNA splicing endonuclease subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsen2",
                    "type": "recommended"
                },
                {
                    "name": "CG31812",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31812",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31812",
                    "type": "synonym"
                },
                {
                    "name": "TSEN2",
                    "type": "synonym"
                },
                {
                    "name": "Tsen2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IP11-1",
            "evidence": [
                {
                    "id": "0060268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060268"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060268"
}