{
    "disease_id": "DOID:0080296",
    "recommended_name": {
        "id": "DOID:0080296",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080296",
        "name": "hypomyelinating leukodystrophy 14",
        "description": "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033486",
            "name": "leukodystrophy, hypomyelinating, 14",
            "description": ""
        },
        {
            "id": "MONDO:0033486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033486",
            "name": "leukodystrophy, hypomyelinating, 14",
            "description": ""
        },
        {
            "id": "MONDO:0033486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033486",
            "name": "HLD14",
            "description": ""
        },
        {
            "id": "MIM:617899",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617899",
            "name": "Leukodystrophy, hypomyelinating, 14",
            "description": "Leukodystrophy, hypomyelinating, 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080296"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080296",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080296",
            "categories": []
        },
        {
            "id": "MONDO:0033486",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033486",
            "categories": []
        },
        {
            "id": "MIM:617899",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617899",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q803Y4-1",
            "uniprot_ac": "Q803Y4",
            "uniprot_id": "UFM1_DANRE",
            "refseq_ac": "NP_997792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "ubiquitin-fold modifier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ufm1",
                    "type": "recommended"
                },
                {
                    "name": "BM-002",
                    "type": "synonym"
                },
                {
                    "name": "ubfm1",
                    "type": "synonym"
                },
                {
                    "name": "ufm1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa10f05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb72g01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55335",
                    "type": "synonym"
                }
            ],
            "record_id": "Q803Y4-1",
            "evidence": [
                {
                    "id": "0080296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61961-1",
            "uniprot_ac": "P61961",
            "uniprot_id": "UFM1_MOUSE",
            "refseq_ac": "NP_080711",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "ubiquitin-fold modifier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufm1",
                    "type": "recommended"
                },
                {
                    "name": "1810045K17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm10726",
                    "type": "synonym"
                },
                {
                    "name": "Ufm1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61961-1",
            "evidence": [
                {
                    "id": "0080296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61960-1",
            "uniprot_ac": "P61960",
            "uniprot_id": "UFM1_HUMAN",
            "refseq_ac": "NP_001273632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "ubiquitin-fold modifier 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UFM1",
                    "type": "recommended"
                },
                {
                    "name": "BM-002",
                    "type": "synonym"
                },
                {
                    "name": "C13orf20",
                    "type": "synonym"
                },
                {
                    "name": "HLD14",
                    "type": "synonym"
                },
                {
                    "name": "UFM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61960-1",
            "evidence": [
                {
                    "id": "617899",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617899"
                },
                {
                    "id": "0080296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BJP3-1",
            "uniprot_ac": "Q5BJP3",
            "uniprot_id": "UFM1_RAT",
            "refseq_ac": "NP_001119552",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "ubiquitin-fold modifier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufm1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1304890",
                    "type": "synonym"
                },
                {
                    "name": "Ufm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BJP3-1",
            "evidence": [
                {
                    "id": "0080296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYH2-1",
            "uniprot_ac": "A8DYH2",
            "uniprot_id": "UFM1_DROME",
            "refseq_ac": "NP_001097354",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "CG34191-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-fold modifier 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ufm1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufm1",
                    "type": "recommended"
                },
                {
                    "name": "CG34191",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34191",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34191",
                    "type": "synonym"
                },
                {
                    "name": "UFM1",
                    "type": "synonym"
                },
                {
                    "name": "Ufm1",
                    "type": "synonym"
                },
                {
                    "name": "dUFM1",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYH2-1",
            "evidence": [
                {
                    "id": "0080296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080296"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080296"
}