{
    "disease_id": "DOID:0060792",
    "recommended_name": {
        "id": "DOID:0060792",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060792",
        "name": "hypomyelinating leukodystrophy 11",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060792",
            "name": "HLD11",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "hypomyelinating leukodystrophy 11",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene."
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "HLD11",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "POLR1C leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "hypomyelinating leukodystrophy type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "leukodystrophy caused by mutation in POLR1C",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "leukodystrophy, hypomyelinating, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "leukodystrophy, hypomyelinating, 11",
            "description": ""
        },
        {
            "id": "MIM:616494",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616494",
            "name": "Leukodystrophy, hypomyelinating, 11",
            "description": "Leukodystrophy, hypomyelinating, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060792"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060792",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060792",
            "categories": []
        },
        {
            "id": "MONDO:0014666",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "categories": []
        },
        {
            "id": "MIM:616494",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616494",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52432-1",
            "uniprot_ac": "P52432",
            "uniprot_id": "RPAC1_MOUSE",
            "refseq_ac": "NP_033111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC1",
                    "type": "recommended"
                },
                {
                    "name": "AC40",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit C",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III 40 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase 1-1 (40 kDa subunit)",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC1",
                    "type": "synonym"
                },
                {
                    "name": "RPA40",
                    "type": "synonym"
                },
                {
                    "name": "RPC40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1c",
                    "type": "recommended"
                },
                {
                    "name": "40kDa",
                    "type": "synonym"
                },
                {
                    "name": "Polr1c",
                    "type": "synonym"
                },
                {
                    "name": "Polr1e",
                    "type": "synonym"
                },
                {
                    "name": "RPA40",
                    "type": "synonym"
                },
                {
                    "name": "Rpo1-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P52432-1",
            "evidence": [
                {
                    "id": "0060792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15160-1",
            "uniprot_ac": "O15160",
            "uniprot_id": "RPAC1_HUMAN",
            "refseq_ac": "NP_001305805",
            "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 polymerases I and III subunit RPAC1",
                    "type": "recommended"
                },
                {
                    "name": "AC40",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit C",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III 40 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit C",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC1",
                    "type": "synonym"
                },
                {
                    "name": "RPA39",
                    "type": "synonym"
                },
                {
                    "name": "RPA40",
                    "type": "synonym"
                },
                {
                    "name": "RPC40",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I polypeptide C, 30kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I subunit C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLR1C",
                    "type": "recommended"
                },
                {
                    "name": "AC40",
                    "type": "synonym"
                },
                {
                    "name": "HLD11",
                    "type": "synonym"
                },
                {
                    "name": "POLR1C",
                    "type": "synonym"
                },
                {
                    "name": "POLR1E",
                    "type": "synonym"
                },
                {
                    "name": "RPA39",
                    "type": "synonym"
                },
                {
                    "name": "RPA40",
                    "type": "synonym"
                },
                {
                    "name": "RPA5",
                    "type": "synonym"
                },
                {
                    "name": "RPAC1",
                    "type": "synonym"
                },
                {
                    "name": "RPC40",
                    "type": "synonym"
                },
                {
                    "name": "TCS3",
                    "type": "synonym"
                }
            ],
            "record_id": "O15160-1",
            "evidence": [
                {
                    "id": "616494",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616494"
                },
                {
                    "id": "0060792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07703-1",
            "uniprot_ac": "P07703",
            "uniprot_id": "RPAC1_YEAST",
            "refseq_ac": "NP_015435",
            "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 polymerases I and III subunit RPAC1",
                    "type": "recommended"
                },
                {
                    "name": "AC40",
                    "type": "synonym"
                },
                {
                    "name": "C37",
                    "type": "synonym"
                },
                {
                    "name": "C40",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase core subunit RPC40",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III 40 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPC40",
                    "type": "recommended"
                },
                {
                    "name": "P8283.18",
                    "type": "synonym"
                },
                {
                    "name": "RPC40",
                    "type": "synonym"
                },
                {
                    "name": "RPC5",
                    "type": "synonym"
                }
            ],
            "record_id": "P07703-1",
            "evidence": [
                {
                    "id": "0060792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMX3-1",
            "uniprot_ac": "Q9VMX3",
            "uniprot_id": "Q9VMX3_DROME",
            "refseq_ac": "NP_608885",
            "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 polymerases I and III subunit RPAC1",
                    "type": "recommended"
                },
                {
                    "name": "CG3756-PA",
                    "type": "synonym"
                },
                {
                    "name": "Polr1C-PA",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I and III subunit C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1C",
                    "type": "recommended"
                },
                {
                    "name": "AC40",
                    "type": "synonym"
                },
                {
                    "name": "CG3756",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3756",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3756",
                    "type": "synonym"
                },
                {
                    "name": "POLR1C",
                    "type": "synonym"
                },
                {
                    "name": "Polr1C",
                    "type": "synonym"
                },
                {
                    "name": "RPC40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMX3-1",
            "evidence": [
                {
                    "id": "0060792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060792"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060792"
}