{
    "disease_id": "DOID:0060795",
    "recommended_name": {
        "id": "DOID:0060795",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060795",
        "name": "hypomyelinating leukodystrophy 13",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14."
    },
    "synonyms": [
        {
            "id": "DOID:0060795",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060795",
            "name": "HLD13",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "hypomyelinating leukodystrophy 13",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene."
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "HIKESHI leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "HLD13",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "hikeshi leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "hypomyelinating leukodystrophy type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "leukodystrophy caused by mutation in HIKESHI",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "leukodystrophy caused by mutation in hikeshi",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "leukodystrophy, hypomyelinating, 13",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "leukodystrophy, hypomyelinating, type 13",
            "description": ""
        },
        {
            "id": "MIM:616881",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616881",
            "name": "Leukodystrophy, hypomyelinating, 13",
            "description": "Leukodystrophy, hypomyelinating, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060795"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060795",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060795",
            "categories": []
        },
        {
            "id": "MONDO:0014813",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "categories": []
        },
        {
            "id": "MIM:616881",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616881",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q568T4-1",
            "uniprot_ac": "Q568T4",
            "uniprot_id": "HIKES_DANRE",
            "refseq_ac": "NP_001017577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Hikeshi",
                    "type": "recommended"
                },
                {
                    "name": "Hikeshi, heat shock protein nuclear import factor",
                    "type": "synonym"
                },
                {
                    "name": "protein Hikeshi",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hikeshi",
                    "type": "recommended"
                },
                {
                    "name": "hikeshi",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110091",
                    "type": "synonym"
                }
            ],
            "record_id": "Q568T4-1",
            "evidence": [
                {
                    "id": "0060795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060795"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DD02-1",
            "uniprot_ac": "Q9DD02",
            "uniprot_id": "HIKES_MOUSE",
            "refseq_ac": "NP_001278215",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Hikeshi",
                    "type": "recommended"
                },
                {
                    "name": "Lethal gene on chromosome 7 Rinchik 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "lethal gene on chromosome 7 Rinchik 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "protein Hikeshi isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein Hikeshi",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hikeshi",
                    "type": "recommended"
                },
                {
                    "name": "0610007P06Rik",
                    "type": "synonym"
                },
                {
                    "name": "1110002N09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hikeshi",
                    "type": "synonym"
                },
                {
                    "name": "L7rn6",
                    "type": "synonym"
                },
                {
                    "name": "l(7)6Rn",
                    "type": "synonym"
                },
                {
                    "name": "l7Rn6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DD02-1",
            "evidence": [
                {
                    "id": "0060795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060795"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q53FT3-1",
            "uniprot_ac": "Q53FT3",
            "uniprot_id": "HIKES_HUMAN",
            "refseq_ac": "NP_057485",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Hikeshi",
                    "type": "recommended"
                },
                {
                    "name": "Hikeshi, heat shock protein nuclear import factor",
                    "type": "synonym"
                },
                {
                    "name": "lethal, Chr 7, Rinchik 6",
                    "type": "synonym"
                },
                {
                    "name": "protein Hikeshi isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein Hikeshi",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HIKESHI",
                    "type": "recommended"
                },
                {
                    "name": "C11orf73",
                    "type": "synonym"
                },
                {
                    "name": "HIKESHI",
                    "type": "synonym"
                },
                {
                    "name": "HLD13",
                    "type": "synonym"
                },
                {
                    "name": "HSPC138",
                    "type": "synonym"
                },
                {
                    "name": "HSPC179",
                    "type": "synonym"
                },
                {
                    "name": "HSPC248",
                    "type": "synonym"
                },
                {
                    "name": "L7RN6",
                    "type": "synonym"
                },
                {
                    "name": "OPI10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q53FT3-1",
            "evidence": [
                {
                    "id": "616881",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616881"
                },
                {
                    "id": "0060795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060795"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08202-1",
            "uniprot_ac": "Q08202",
            "uniprot_id": "OPI10_YEAST",
            "refseq_ac": "NP_014610",
            "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": "Protein OPI10",
                    "type": "recommended"
                },
                {
                    "name": "Opi10p",
                    "type": "synonym"
                },
                {
                    "name": "Overproducer of inositol protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPI10",
                    "type": "recommended"
                },
                {
                    "name": "OPI10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08202-1",
            "evidence": [
                {
                    "id": "0060795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060795"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M808-1",
            "uniprot_ac": "Q5M808",
            "uniprot_id": "HIKES_RAT",
            "refseq_ac": "NP_001013919",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Hikeshi",
                    "type": "recommended"
                },
                {
                    "name": "Hikeshi, heat shock protein nuclear import factor",
                    "type": "synonym"
                },
                {
                    "name": "lethal, Chr 7, Rinchik 6",
                    "type": "synonym"
                },
                {
                    "name": "protein Hikeshi isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Hikeshi",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C11orf73 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hikeshi",
                    "type": "recommended"
                },
                {
                    "name": "Hikeshi",
                    "type": "synonym"
                },
                {
                    "name": "l7Rn6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M808-1",
            "evidence": [
                {
                    "id": "0060795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060795"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0C7-1",
            "uniprot_ac": "Q9W0C7",
            "uniprot_id": "OPI10_DROME",
            "refseq_ac": "NP_647633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein OPI10 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG13926-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13926",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13926",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0C7-1",
            "evidence": [
                {
                    "id": "0060795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060795"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060795"
}