{
    "disease_id": "DOID:0060797",
    "recommended_name": {
        "id": "DOID:0060797",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060797",
        "name": "hypomyelinating leukodystrophy 8",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060797",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060797",
            "name": "HLD8",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene."
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "HLD8",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "POLR3B leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "endosteal sclerosis-cerebellar hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "leukodystrophy caused by mutation in POLR3B",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene."
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "HLD8",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "POLR3B leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "endosteal sclerosis-cerebellar hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "leukodystrophy caused by mutation in POLR3B",
            "description": ""
        },
        {
            "id": "MONDO:0013722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "name": "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MIM:614381",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614381",
            "name": "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060797"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060797",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060797",
            "categories": []
        },
        {
            "id": "MONDO:0013722",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013722",
            "categories": []
        },
        {
            "id": "MIM:614381",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614381",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QQA2-1",
            "uniprot_ac": "F1QQA2",
            "uniprot_id": "F1QQA2_DANRE",
            "refseq_ac": "XP_021323450",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polr3b",
                    "type": "recommended"
                },
                {
                    "name": "polr3b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QQA2-1",
            "evidence": [
                {
                    "id": "0060797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59470-1",
            "uniprot_ac": "P59470",
            "uniprot_id": "RPC2_MOUSE",
            "refseq_ac": "NP_081699",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "C128",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III 127.6 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit B",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit RPC2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3b",
                    "type": "recommended"
                },
                {
                    "name": "2700078H01Rik",
                    "type": "synonym"
                },
                {
                    "name": "A330032P03Rik",
                    "type": "synonym"
                },
                {
                    "name": "C128",
                    "type": "synonym"
                },
                {
                    "name": "Polr3b",
                    "type": "synonym"
                },
                {
                    "name": "RPC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P59470-1",
            "evidence": [
                {
                    "id": "0060797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NW08-1",
            "uniprot_ac": "Q9NW08",
            "uniprot_id": "RPC2_HUMAN",
            "refseq_ac": "NP_001154180",
            "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 RPC2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "C128",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III 127.6 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit B",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C2",
                    "type": "synonym"
                },
                {
                    "name": "interphase nucleus and mitotic apparatus associated protein",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III (DNA directed) polypeptide B",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III subunit B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLR3B",
                    "type": "recommended"
                },
                {
                    "name": "C128",
                    "type": "synonym"
                },
                {
                    "name": "CMT1I",
                    "type": "synonym"
                },
                {
                    "name": "HLD8",
                    "type": "synonym"
                },
                {
                    "name": "INMAP",
                    "type": "synonym"
                },
                {
                    "name": "POLR3B",
                    "type": "synonym"
                },
                {
                    "name": "RPC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NW08-1",
            "evidence": [
                {
                    "id": "614381",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614381"
                },
                {
                    "id": "0060797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22276-1",
            "uniprot_ac": "P22276",
            "uniprot_id": "RPC2_YEAST",
            "refseq_ac": "NP_014850",
            "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 RPC2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "C128",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III 130 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III core subunit RET1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RET1",
                    "type": "recommended"
                },
                {
                    "name": "PDS2",
                    "type": "synonym"
                },
                {
                    "name": "RET1",
                    "type": "synonym"
                },
                {
                    "name": "RPC128",
                    "type": "synonym"
                },
                {
                    "name": "RPC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P22276-1",
            "evidence": [
                {
                    "id": "0060797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L8N3-1",
            "uniprot_ac": "A0ABK0L8N3",
            "uniprot_id": "A0ABK0L8N3_RAT",
            "refseq_ac": "NP_001178807",
            "glycoprotein": "no",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC2",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III (DNA directed) polypeptide B",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III subunit B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3b",
                    "type": "recommended"
                },
                {
                    "name": "Polr3b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565311",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L8N3-1",
            "evidence": [
                {
                    "id": "0060797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25167-1",
            "uniprot_ac": "P25167",
            "uniprot_id": "RPC2_DROME",
            "refseq_ac": "NP_523706",
            "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 III subunit RPC2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "C128",
                    "type": "synonym"
                },
                {
                    "name": "CG8344-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III 128 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit B",
                    "type": "synonym"
                },
                {
                    "name": "Polr3B-PA",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III 128kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit B",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase IIIb",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3B",
                    "type": "recommended"
                },
                {
                    "name": "C128",
                    "type": "synonym"
                },
                {
                    "name": "CG8344",
                    "type": "synonym"
                },
                {
                    "name": "DmRP128",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8344",
                    "type": "synonym"
                },
                {
                    "name": "Polr3B",
                    "type": "synonym"
                },
                {
                    "name": "RET1",
                    "type": "synonym"
                },
                {
                    "name": "RP128",
                    "type": "synonym"
                },
                {
                    "name": "RPC2",
                    "type": "synonym"
                },
                {
                    "name": "Rp128",
                    "type": "synonym"
                },
                {
                    "name": "RpIII128",
                    "type": "synonym"
                }
            ],
            "record_id": "P25167-1",
            "evidence": [
                {
                    "id": "0060797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060797"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060797"
}