{
    "disease_id": "DOID:0111216",
    "recommended_name": {
        "id": "DOID:0111216",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111216",
        "name": "autosomal recessive centronuclear myopathy",
        "description": "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance."
    },
    "synonyms": [
        {
            "id": "DOID:0111216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111216",
            "name": "AR-CNM",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0111220",
            "label": "centronuclear myopathy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111221",
            "label": "centronuclear myopathy 6 with fiber-type disproportion",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111222",
            "label": "centronuclear myopathy 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111222",
        "DOID:0111216",
        "DOID:0111221",
        "DOID:0111220"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111216",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111216",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P56213-1",
            "uniprot_ac": "P56213",
            "uniprot_id": "ALR_MOUSE",
            "refseq_ac": "NP_075527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAD-linked sulfhydryl oxidase ALR",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.2",
                    "type": "synonym"
                },
                {
                    "name": "Augmenter of liver regeneration",
                    "type": "synonym"
                },
                {
                    "name": "FAD-linked sulfhydryl oxidase ALR isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "FAD-linked sulfhydryl oxidase ALR",
                    "type": "synonym"
                },
                {
                    "name": "augmenter of liver regeneration",
                    "type": "synonym"
                },
                {
                    "name": "growth factor, erv1-like (augmenter of liver regeneration)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfer",
                    "type": "recommended"
                },
                {
                    "name": "Alr",
                    "type": "synonym"
                },
                {
                    "name": "ERV1",
                    "type": "synonym"
                },
                {
                    "name": "Gfer",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-0663",
                    "type": "synonym"
                }
            ],
            "record_id": "P56213-1",
            "evidence": [
                {
                    "id": "0111216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27882-1",
            "uniprot_ac": "P27882",
            "uniprot_id": "ERV1_YEAST",
            "refseq_ac": "NP_011543",
            "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": "Mitochondrial FAD-linked sulfhydryl oxidase ERV1",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.2",
                    "type": "synonym"
                },
                {
                    "name": "14 kDa regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "Essential for respiration and vegetative growth protein 1",
                    "type": "synonym"
                },
                {
                    "name": "flavin-linked sulfhydryl oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERV1",
                    "type": "recommended"
                },
                {
                    "name": "ERV1",
                    "type": "synonym"
                }
            ],
            "record_id": "P27882-1",
            "evidence": [
                {
                    "id": "0111216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63042-1",
            "uniprot_ac": "Q63042",
            "uniprot_id": "ALR_RAT",
            "refseq_ac": "NP_037354",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAD-linked sulfhydryl oxidase ALR",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.2",
                    "type": "synonym"
                },
                {
                    "name": "Augmenter of liver regeneration",
                    "type": "synonym"
                },
                {
                    "name": "FAD-linked sulfhydryl oxidase ALR-like",
                    "type": "synonym"
                },
                {
                    "name": "FAD-linked sulfhydryl oxidase ALR",
                    "type": "synonym"
                },
                {
                    "name": "growth factor, erv1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "growth factor, erv1-like (augmenter of liver regeneration)",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor IF-2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfer",
                    "type": "recommended"
                },
                {
                    "name": "ALR",
                    "type": "synonym"
                },
                {
                    "name": "Alr",
                    "type": "synonym"
                },
                {
                    "name": "Gfer",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63042-1",
            "evidence": [
                {
                    "id": "0111216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55789-1",
            "uniprot_ac": "P55789",
            "uniprot_id": "ALR_HUMAN",
            "refseq_ac": "NP_005253",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAD-linked sulfhydryl oxidase ALR",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.2",
                    "type": "synonym"
                },
                {
                    "name": "Augmenter of liver regeneration",
                    "type": "synonym"
                },
                {
                    "name": "ERV1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "FAD-linked sulfhydryl oxidase ALR",
                    "type": "synonym"
                },
                {
                    "name": "Hepatopoietin",
                    "type": "synonym"
                },
                {
                    "name": "erv1-like growth factor",
                    "type": "synonym"
                },
                {
                    "name": "hERV1",
                    "type": "synonym"
                },
                {
                    "name": "hepatic regenerative stimulation substance",
                    "type": "synonym"
                },
                {
                    "name": "hepatopoietin protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GFER",
                    "type": "recommended"
                },
                {
                    "name": "ALR",
                    "type": "synonym"
                },
                {
                    "name": "ERV1",
                    "type": "synonym"
                },
                {
                    "name": "GFER",
                    "type": "synonym"
                },
                {
                    "name": "HERV1",
                    "type": "synonym"
                },
                {
                    "name": "HPO1",
                    "type": "synonym"
                },
                {
                    "name": "HPO2",
                    "type": "synonym"
                },
                {
                    "name": "HPO",
                    "type": "synonym"
                },
                {
                    "name": "HSS",
                    "type": "synonym"
                },
                {
                    "name": "MMCHD",
                    "type": "synonym"
                },
                {
                    "name": "MPMCD",
                    "type": "synonym"
                }
            ],
            "record_id": "P55789-1",
            "evidence": [
                {
                    "id": "0111216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111216"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111216"
}