{
    "disease_id": "DOID:0060266",
    "recommended_name": {
        "id": "DOID:0060266",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060266",
        "name": "pontocerebellar hypoplasia type 1B",
        "description": "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "pontocerebellar hypoplasia type 1B",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene."
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "EXOSC3 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3",
            "description": ""
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "pontocerebellar hypoplasia type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "PCH1B",
            "description": ""
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "pontocerebellar hypoplasia, type 1B",
            "description": ""
        },
        {
            "id": "MIM:614678",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614678",
            "name": "Pontocerebellar hypoplasia 1B",
            "description": "Pontocerebellar hypoplasia 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060266"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060266",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060266",
            "categories": []
        },
        {
            "id": "MONDO:0013853",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "categories": []
        },
        {
            "id": "MIM:614678",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614678",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7TQK4-1",
            "uniprot_ac": "Q7TQK4",
            "uniprot_id": "EXOS3_MOUSE",
            "refseq_ac": "NP_079789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exosome complex component RRP40",
                    "type": "recommended"
                },
                {
                    "name": "3.1.13.-",
                    "type": "synonym"
                },
                {
                    "name": "Exosome component 3",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 40",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP40 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP40",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex exonuclease RRP40",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA-processing protein 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Exosc3",
                    "type": "recommended"
                },
                {
                    "name": "2310005D06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Exosc3",
                    "type": "synonym"
                },
                {
                    "name": "Rrp40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TQK4-1",
            "evidence": [
                {
                    "id": "0060266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQT5-1",
            "uniprot_ac": "Q9NQT5",
            "uniprot_id": "EXOS3_HUMAN",
            "refseq_ac": "NP_001002269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exosome complex component RRP40",
                    "type": "recommended"
                },
                {
                    "name": "Exosome component 3",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 40",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP40 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP40",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex exonuclease RRP40",
                    "type": "synonym"
                },
                {
                    "name": "p10",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA-processing protein 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EXOSC3",
                    "type": "recommended"
                },
                {
                    "name": "CGI-102",
                    "type": "synonym"
                },
                {
                    "name": "EXOSC3",
                    "type": "synonym"
                },
                {
                    "name": "PCH1B",
                    "type": "synonym"
                },
                {
                    "name": "RRP40",
                    "type": "synonym"
                },
                {
                    "name": "Rrp40p",
                    "type": "synonym"
                },
                {
                    "name": "bA3J10.7",
                    "type": "synonym"
                },
                {
                    "name": "hRrp-40",
                    "type": "synonym"
                },
                {
                    "name": "p10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQT5-1",
            "evidence": [
                {
                    "id": "614678",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614678"
                },
                {
                    "id": "0060266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08285-1",
            "uniprot_ac": "Q08285",
            "uniprot_id": "RRP40_YEAST",
            "refseq_ac": "NP_014499",
            "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": "Exosome complex component RRP40",
                    "type": "recommended"
                },
                {
                    "name": "Ribosomal RNA-processing protein 40",
                    "type": "synonym"
                },
                {
                    "name": "exosome non-catalytic core subunit RRP40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRP40",
                    "type": "recommended"
                },
                {
                    "name": "MTR14",
                    "type": "synonym"
                },
                {
                    "name": "RRP40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08285-1",
            "evidence": [
                {
                    "id": "0060266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZT51-1",
            "uniprot_ac": "D3ZT51",
            "uniprot_id": "D3ZT51_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exosome complex component RRP40",
                    "type": "recommended"
                },
                {
                    "name": "Exosome component 3",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Exosc3",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZT51-1",
            "evidence": [
                {
                    "id": "0060266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPX7-1",
            "uniprot_ac": "Q8IPX7",
            "uniprot_id": "EXOS3_DROME",
            "refseq_ac": "NP_001285565",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exosome complex component RRP40",
                    "type": "recommended"
                },
                {
                    "name": "CG31938-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 40",
                    "type": "synonym"
                },
                {
                    "name": "Rrp40-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA processing 40, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rrp40",
                    "type": "recommended"
                },
                {
                    "name": "CG31938",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31938",
                    "type": "synonym"
                },
                {
                    "name": "Rrp40",
                    "type": "synonym"
                },
                {
                    "name": "dRrp40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPX7-1",
            "evidence": [
                {
                    "id": "0060266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060266"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060266"
}