{
    "disease_id": "DOID:0070397",
    "recommended_name": {
        "id": "DOID:0070397",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070397",
        "name": "hypomyelinating leukodystrophy 23",
        "description": "A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life."
    },
    "synonyms": [
        {
            "id": "DOID:0070397",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070397",
            "name": "HLD23",
            "description": ""
        },
        {
            "id": "MONDO:0030514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030514",
            "name": "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030514",
            "name": "HLD23",
            "description": ""
        },
        {
            "id": "MIM:619688",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619688",
            "name": "Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy",
            "description": "Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070397"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070397",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070397",
            "categories": []
        },
        {
            "id": "MONDO:0030514",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030514",
            "categories": []
        },
        {
            "id": "MIM:619688",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619688",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PXZ7-1",
            "uniprot_ac": "A0A8M9PXZ7",
            "uniprot_id": "A0A8M9PXZ7_DANRE",
            "refseq_ac": "NP_001430222",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF220a isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF220a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnf220a",
                    "type": "recommended"
                },
                {
                    "name": "rnf220a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153254",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PXZ7-1",
            "evidence": [
                {
                    "id": "0070397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070397"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PDX6-1",
            "uniprot_ac": "Q6PDX6",
            "uniprot_id": "RN220_MOUSE",
            "refseq_ac": "NP_001297658",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Rnf220",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Rnf220 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Rnf220",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 220",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Rnf220",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf220",
                    "type": "recommended"
                },
                {
                    "name": "4732477A13",
                    "type": "synonym"
                },
                {
                    "name": "4931406I20Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730503K05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rnf220",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PDX6-1",
            "evidence": [
                {
                    "id": "0070397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070397"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VTB9-1",
            "uniprot_ac": "Q5VTB9",
            "uniprot_id": "RN220_HUMAN",
            "refseq_ac": "NP_001306885",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF220",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF220 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF220",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 220",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF220",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF220",
                    "type": "recommended"
                },
                {
                    "name": "C1orf164",
                    "type": "synonym"
                },
                {
                    "name": "HLD23",
                    "type": "synonym"
                },
                {
                    "name": "RNF220",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VTB9-1",
            "evidence": [
                {
                    "id": "619688",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619688"
                },
                {
                    "id": "0070397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070397"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AQ97-1",
            "uniprot_ac": "A0A8I6AQ97",
            "uniprot_id": "A0A8I6AQ97_RAT",
            "refseq_ac": "NP_001425233",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF220",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF220 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF220",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 220",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF220",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf220",
                    "type": "recommended"
                },
                {
                    "name": "Rnf220",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AQ97-1",
            "evidence": [
                {
                    "id": "0070397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070397"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCV3-1",
            "uniprot_ac": "Q9VCV3",
            "uniprot_id": "Q9VCV3_DROME",
            "refseq_ac": "NP_651088",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4813-PA",
                    "type": "synonym"
                },
                {
                    "name": "RNF220-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ring finger protein 220",
                    "type": "synonym"
                },
                {
                    "name": "ring finger protein 220",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf220",
                    "type": "recommended"
                },
                {
                    "name": "CG4813",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4813",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4813",
                    "type": "synonym"
                },
                {
                    "name": "RNF220",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCV3-1",
            "evidence": [
                {
                    "id": "0070397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070397"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070397"
}