{
    "disease_id": "DOID:0081333",
    "recommended_name": {
        "id": "DOID:0081333",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081333",
        "name": "Wiedemann-Rautenstrauch syndrome",
        "description": "A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081333",
            "name": "Neonatal progeroid syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081333",
            "name": "PROGEROID SYNDROME, NEONATAL",
            "description": ""
        },
        {
            "id": "MONDO:0009910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009910",
            "name": "Wiedemann-Rautenstrauch syndrome",
            "description": "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism."
        },
        {
            "id": "MONDO:0009910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009910",
            "name": "Wiedemann Rautenstrauch Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009910",
            "name": "Wiedemann-Rautenstrauch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009910",
            "name": "neonatal progeroid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009910",
            "name": "Wiedemann Rautenstrauch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009910",
            "name": "progeroid syndrome neonatal",
            "description": ""
        },
        {
            "id": "MIM:264090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/264090",
            "name": "Wiedemann-Rautenstrauch syndrome",
            "description": "Wiedemann-Rautenstrauch syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081333"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081333",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081333",
            "categories": []
        },
        {
            "id": "MONDO:0009910",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009910",
            "categories": []
        },
        {
            "id": "MIM:264090",
            "database": "MIM",
            "url": "https://www.omim.org/entry/264090",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PWI3-1",
            "uniprot_ac": "A0A8M9PWI3",
            "uniprot_id": "A0A8M9PWI3_DANRE",
            "refseq_ac": "XP_021335832",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polr3a",
                    "type": "recommended"
                },
                {
                    "name": "fb81e09",
                    "type": "synonym"
                },
                {
                    "name": "im:7139382",
                    "type": "synonym"
                },
                {
                    "name": "polr3a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb81e09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PWI3-1",
            "evidence": [
                {
                    "id": "0081333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14802-1",
            "uniprot_ac": "O14802",
            "uniprot_id": "RPC1_HUMAN",
            "refseq_ac": "NP_008986",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III largest subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit A",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III 155 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C160",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit RPC155-D",
                    "type": "synonym"
                },
                {
                    "name": "RPC155",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III (DNA directed) polypeptide A, 155kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLR3A",
                    "type": "recommended"
                },
                {
                    "name": "ADDH",
                    "type": "synonym"
                },
                {
                    "name": "C160",
                    "type": "synonym"
                },
                {
                    "name": "HLD7",
                    "type": "synonym"
                },
                {
                    "name": "POLR3A",
                    "type": "synonym"
                },
                {
                    "name": "RPC155",
                    "type": "synonym"
                },
                {
                    "name": "RPC1",
                    "type": "synonym"
                },
                {
                    "name": "WDRTS",
                    "type": "synonym"
                },
                {
                    "name": "hRPC155",
                    "type": "synonym"
                }
            ],
            "record_id": "O14802-1",
            "evidence": [
                {
                    "id": "264090",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/264090"
                },
                {
                    "id": "0081333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04051-1",
            "uniprot_ac": "P04051",
            "uniprot_id": "RPC1_YEAST",
            "refseq_ac": "NP_014759",
            "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": "DNA-directed RNA polymerase III subunit RPC1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III core subunit RPO31",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III largest subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C160",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPO31",
                    "type": "recommended"
                },
                {
                    "name": "O3254",
                    "type": "synonym"
                },
                {
                    "name": "RPC160",
                    "type": "synonym"
                },
                {
                    "name": "RPC1",
                    "type": "synonym"
                },
                {
                    "name": "RPO31",
                    "type": "synonym"
                },
                {
                    "name": "YOR3254C",
                    "type": "synonym"
                }
            ],
            "record_id": "P04051-1",
            "evidence": [
                {
                    "id": "0081333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PTB6-1",
            "uniprot_ac": "E9PTB6",
            "uniprot_id": "E9PTB6_RAT",
            "refseq_ac": "NP_001401818",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC1",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III (DNA directed) polypeptide A, 155kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3a",
                    "type": "recommended"
                },
                {
                    "name": "Polr3a",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305574",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PTB6-1",
            "evidence": [
                {
                    "id": "0081333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JUY3-1",
            "uniprot_ac": "A8JUY3",
            "uniprot_id": "A8JUY3_DROME",
            "refseq_ac": "NP_001096987",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "CG17209-PC",
                    "type": "synonym"
                },
                {
                    "name": "Polr3A-PC",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit A",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3A",
                    "type": "recommended"
                },
                {
                    "name": "C160",
                    "type": "synonym"
                },
                {
                    "name": "CG17209",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17209",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17209",
                    "type": "synonym"
                },
                {
                    "name": "PolR3A",
                    "type": "synonym"
                },
                {
                    "name": "Polr3A",
                    "type": "synonym"
                },
                {
                    "name": "RPO31",
                    "type": "synonym"
                },
                {
                    "name": "RpIIIC160",
                    "type": "synonym"
                },
                {
                    "name": "Rpc160",
                    "type": "synonym"
                },
                {
                    "name": "dC160",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JUY3-1",
            "evidence": [
                {
                    "id": "0081333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081333"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081333"
}