{
    "disease_id": "DOID:0081121",
    "recommended_name": {
        "id": "DOID:0081121",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081121",
        "name": "inclusion body myopathy and brain white matter abnormalities",
        "description": "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081121",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081121",
            "name": "multisystem proteinopathy 6",
            "description": ""
        },
        {
            "id": "MONDO:0850514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0850514",
            "name": "inclusion body myopathy and brain white matter abnormalities",
            "description": ""
        },
        {
            "id": "MIM:619733",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619733",
            "name": "Inclusion body myopathy and brain white matter abnormalities",
            "description": "Inclusion body myopathy and brain white matter abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081121"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081121",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081121",
            "categories": []
        },
        {
            "id": "MONDO:0850514",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0850514",
            "categories": []
        },
        {
            "id": "MIM:619733",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619733",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PC84-1",
            "uniprot_ac": "A0A8M1PC84",
            "uniprot_id": "A0A8M1PC84_DANRE",
            "refseq_ac": "NP_861431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Annexin",
                    "type": "recommended"
                },
                {
                    "name": "ANX XIb",
                    "type": "synonym"
                },
                {
                    "name": "annexin 11b",
                    "type": "synonym"
                },
                {
                    "name": "annexin A11b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anxa11b",
                    "type": "recommended"
                },
                {
                    "name": "anx11b",
                    "type": "synonym"
                },
                {
                    "name": "anxa11b",
                    "type": "synonym"
                },
                {
                    "name": "cb755",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh0376",
                    "type": "synonym"
                },
                {
                    "name": "zeh0376",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PC84-1",
            "evidence": [
                {
                    "id": "0081121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8A4V2-1",
            "uniprot_ac": "B8A4V2",
            "uniprot_id": "B8A4V2_DANRE",
            "refseq_ac": "NP_861430",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Annexin",
                    "type": "recommended"
                },
                {
                    "name": "annexin A11a isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anxa11a",
                    "type": "recommended"
                },
                {
                    "name": "ANX-XIa",
                    "type": "synonym"
                },
                {
                    "name": "anx11a",
                    "type": "synonym"
                },
                {
                    "name": "anxa11a",
                    "type": "synonym"
                },
                {
                    "name": "fc09a11",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb401",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc09a11",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A4V2-1",
            "evidence": [
                {
                    "id": "0081121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97384-1",
            "uniprot_ac": "P97384",
            "uniprot_id": "ANX11_MOUSE",
            "refseq_ac": "NP_038497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Annexin A11",
                    "type": "recommended"
                },
                {
                    "name": "Annexin A11 (Annexin XI) (Calcyclin-associated annexin 50) (CAP-50)",
                    "type": "synonym"
                },
                {
                    "name": "Annexin XI",
                    "type": "synonym"
                },
                {
                    "name": "Annexin-11",
                    "type": "synonym"
                },
                {
                    "name": "CAP-50",
                    "type": "synonym"
                },
                {
                    "name": "Calcyclin-associated annexin 50",
                    "type": "synonym"
                },
                {
                    "name": "annexin A11",
                    "type": "synonym"
                },
                {
                    "name": "annexin XI",
                    "type": "synonym"
                },
                {
                    "name": "annexin-11",
                    "type": "synonym"
                },
                {
                    "name": "calcyclin-associated annexin 50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Anxa11",
                    "type": "recommended"
                },
                {
                    "name": "100039484",
                    "type": "synonym"
                },
                {
                    "name": "100039503",
                    "type": "synonym"
                },
                {
                    "name": "A830099O17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Anx11",
                    "type": "synonym"
                },
                {
                    "name": "Anxa11",
                    "type": "synonym"
                },
                {
                    "name": "Gm2260",
                    "type": "synonym"
                },
                {
                    "name": "Gm2274",
                    "type": "synonym"
                }
            ],
            "record_id": "P97384-1",
            "evidence": [
                {
                    "id": "0081121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50995-1",
            "uniprot_ac": "P50995",
            "uniprot_id": "ANX11_HUMAN",
            "refseq_ac": "NP_001148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Annexin A11",
                    "type": "recommended"
                },
                {
                    "name": "56 kDa autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "Annexin XI",
                    "type": "synonym"
                },
                {
                    "name": "Annexin-11",
                    "type": "synonym"
                },
                {
                    "name": "CAP-50",
                    "type": "synonym"
                },
                {
                    "name": "Calcyclin-associated annexin 50",
                    "type": "synonym"
                },
                {
                    "name": "annexin A11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "annexin XI",
                    "type": "synonym"
                },
                {
                    "name": "annexin-11",
                    "type": "synonym"
                },
                {
                    "name": "calcyclin-associated annexin 50",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANXA11",
                    "type": "recommended"
                },
                {
                    "name": "ALS23",
                    "type": "synonym"
                },
                {
                    "name": "ANX11",
                    "type": "synonym"
                },
                {
                    "name": "ANXA11",
                    "type": "synonym"
                },
                {
                    "name": "CAP-50",
                    "type": "synonym"
                },
                {
                    "name": "CAP50",
                    "type": "synonym"
                },
                {
                    "name": "IBMWMA",
                    "type": "synonym"
                }
            ],
            "record_id": "P50995-1",
            "evidence": [
                {
                    "id": "619733",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619733"
                },
                {
                    "id": "0081121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FLB7-1",
            "uniprot_ac": "F7FLB7",
            "uniprot_id": "F7FLB7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Annexin",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Anxa11",
                    "type": "recommended"
                }
            ],
            "record_id": "F7FLB7-1",
            "evidence": [
                {
                    "id": "0081121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXG4-1",
            "uniprot_ac": "Q9VXG4",
            "uniprot_id": "ANX11_DROME",
            "refseq_ac": "NP_001259614",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Annexin B11",
                    "type": "recommended"
                },
                {
                    "name": "AnxB11-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG9968-PC",
                    "type": "synonym"
                },
                {
                    "name": "annexin B11, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "annexin B11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AnxB11",
                    "type": "recommended"
                },
                {
                    "name": "ANXB11",
                    "type": "synonym"
                },
                {
                    "name": "AnxB11",
                    "type": "synonym"
                },
                {
                    "name": "Anxb11",
                    "type": "synonym"
                },
                {
                    "name": "Axb11",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH16395",
                    "type": "synonym"
                },
                {
                    "name": "CG9968",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9968",
                    "type": "synonym"
                },
                {
                    "name": "annexin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXG4-1",
            "evidence": [
                {
                    "id": "0081121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081121"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081121"
}