{
    "disease_id": "DOID:0060794",
    "recommended_name": {
        "id": "DOID:0060794",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060794",
        "name": "hypomyelinating leukodystrophy 7",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "HLD7",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "TACH syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "dentoleukoencephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "leukodystrophy with oligodontia",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "tremor-ataxia-central hypomyelination syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "4H syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "HLD7",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition",
            "description": ""
        },
        {
            "id": "MIM:607694",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607694",
            "name": "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060794"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060794",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "categories": []
        },
        {
            "id": "MONDO:0011897",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "categories": []
        },
        {
            "id": "MIM:607694",
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            "url": "https://www.omim.org/entry/607694",
            "categories": []
        }
    ],
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        {
            "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",
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                }
            ],
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                    "id": "0060794",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14802-1",
            "uniprot_ac": "O14802",
            "uniprot_id": "RPC1_HUMAN",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                {
                    "name": "DNA-directed RNA polymerase III subunit RPC1",
                    "type": "recommended"
                },
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                    "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"
                }
            ],
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                    "id": "607694",
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                {
                    "id": "0060794",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060794"
                }
            ]
        },
        {
            "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]"
                }
            ],
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                {
                    "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": "0060794",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060794"
                }
            ]
        },
        {
            "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",
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                },
                {
                    "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"
                }
            ],
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                {
                    "name": "Polr3a",
                    "type": "recommended"
                },
                {
                    "name": "Polr3a",
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                {
                    "name": "RGD1305574",
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                }
            ],
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                    "id": "0060794",
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            "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]"
                }
            ],
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                    "name": "DNA-directed RNA polymerase subunit",
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                {
                    "name": "2.7.7.6",
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                {
                    "name": "CG17209-PC",
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                {
                    "name": "Polr3A-PC",
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                },
                {
                    "name": "RNA polymerase III subunit A",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C160",
                    "type": "synonym"
                }
            ],
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                    "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",
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                },
                {
                    "name": "RpIIIC160",
                    "type": "synonym"
                },
                {
                    "name": "Rpc160",
                    "type": "synonym"
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                {
                    "name": "dC160",
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                    "id": "0060794",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060794"
}