{
    "disease_id": "DOID:0081175",
    "recommended_name": {
        "id": "DOID:0081175",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081175",
        "name": "short stature, hearing loss, retinitis pigmentosa, and distinctive facies",
        "description": "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0044634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044634",
            "name": "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044634",
            "name": "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044634",
            "name": "short stature, hearing loss, retinitis pigmentosa, and distinctive facies",
            "description": ""
        },
        {
            "id": "MIM:617763",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617763",
            "name": "Short stature, hearing loss, retinitis pigmentosa, and distinctive facies",
            "description": "Short stature, hearing loss, retinitis pigmentosa, and distinctive facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081175"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081175",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081175",
            "categories": []
        },
        {
            "id": "MONDO:0044634",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044634",
            "categories": []
        },
        {
            "id": "MIM:617763",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617763",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W3K6-1",
            "uniprot_ac": "F8W3K6",
            "uniprot_id": "F8W3K6_DANRE",
            "refseq_ac": "NP_001017572",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exosome complex component RRP4",
                    "type": "recommended"
                },
                {
                    "name": "Exosome component 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "exosc2",
                    "type": "recommended"
                },
                {
                    "name": "exosc2",
                    "type": "synonym"
                },
                {
                    "name": "fa97b01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa97b01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110117",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W3K6-1",
            "evidence": [
                {
                    "id": "0081175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VBV3-1",
            "uniprot_ac": "Q8VBV3",
            "uniprot_id": "EXOS2_MOUSE",
            "refseq_ac": "NP_659135",
            "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 RRP4",
                    "type": "recommended"
                },
                {
                    "name": "Exosome component 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP4",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex exonuclease RRP4",
                    "type": "synonym"
                },
                {
                    "name": "homolog of Yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Exosc2",
                    "type": "recommended"
                },
                {
                    "name": "Exosc2",
                    "type": "synonym"
                },
                {
                    "name": "Rrp4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VBV3-1",
            "evidence": [
                {
                    "id": "0081175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13868-1",
            "uniprot_ac": "Q13868",
            "uniprot_id": "EXOS2_HUMAN",
            "refseq_ac": "NP_001269637",
            "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 RRP4",
                    "type": "recommended"
                },
                {
                    "name": "Exosome component 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP4",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex exonuclease RRP4",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA-processing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EXOSC2",
                    "type": "recommended"
                },
                {
                    "name": "EXOSC2",
                    "type": "synonym"
                },
                {
                    "name": "RRP4",
                    "type": "synonym"
                },
                {
                    "name": "Rrp4p",
                    "type": "synonym"
                },
                {
                    "name": "SHRF",
                    "type": "synonym"
                },
                {
                    "name": "hRrp4p",
                    "type": "synonym"
                },
                {
                    "name": "p7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13868-1",
            "evidence": [
                {
                    "id": "617763",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617763"
                },
                {
                    "id": "0081175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38792-1",
            "uniprot_ac": "P38792",
            "uniprot_id": "RRP4_YEAST",
            "refseq_ac": "NP_011936",
            "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 RRP4",
                    "type": "recommended"
                },
                {
                    "name": "Ribosomal RNA-processing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "exosome non-catalytic core subunit RRP4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRP4",
                    "type": "recommended"
                },
                {
                    "name": "RRP4",
                    "type": "synonym"
                }
            ],
            "record_id": "P38792-1",
            "evidence": [
                {
                    "id": "0081175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZBP3-1",
            "uniprot_ac": "D3ZBP3",
            "uniprot_id": "D3ZBP3_RAT",
            "refseq_ac": "NP_001102422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exosome complex component RRP4",
                    "type": "recommended"
                },
                {
                    "name": "Exosome component 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex component RRP4",
                    "type": "synonym"
                },
                {
                    "name": "exosome complex exonuclease RRP4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Exosc2",
                    "type": "recommended"
                },
                {
                    "name": "Exosc2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZBP3-1",
            "evidence": [
                {
                    "id": "0081175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1M9-1",
            "uniprot_ac": "Q9W1M9",
            "uniprot_id": "Q9W1M9_DROME",
            "refseq_ac": "NP_001286771",
            "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 RRP4",
                    "type": "recommended"
                },
                {
                    "name": "CG3931-PB",
                    "type": "synonym"
                },
                {
                    "name": "Exosome component 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal RNA-processing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Rrp4, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rrp4-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rrp4",
                    "type": "recommended"
                },
                {
                    "name": "CG3931",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3931",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3931",
                    "type": "synonym"
                },
                {
                    "name": "RRP4",
                    "type": "synonym"
                },
                {
                    "name": "Rrp4",
                    "type": "synonym"
                },
                {
                    "name": "dRrp4",
                    "type": "synonym"
                },
                {
                    "name": "rrp4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1M9-1",
            "evidence": [
                {
                    "id": "0081175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081175"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081175"
}