{
    "disease_id": "DOID:0050760",
    "recommended_name": {
        "id": "DOID:0050760",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050760",
        "name": "X-linked myopathy with excessive autophagy",
        "description": "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0050760",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050760",
            "name": "XMEA",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "X-linked myopathy with excessive autophagy",
            "description": "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings."
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "XMEA",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "myopathy, X-linked, with excessive autophagy, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "vacuolar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "MEAX",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "myopathy, X-linked, with excessive autophagy",
            "description": ""
        },
        {
            "id": "MIM:310440",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310440",
            "name": "Myopathy, X-linked, with excessive autophagy",
            "description": "Myopathy, X-linked, with excessive autophagy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050760"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050760",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050760",
            "categories": []
        },
        {
            "id": "MONDO:0010684",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "categories": []
        },
        {
            "id": "MIM:310440",
            "database": "MIM",
            "url": "https://www.omim.org/entry/310440",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JLV7-1",
            "uniprot_ac": "B8JLV7",
            "uniprot_id": "VMA21_DANRE",
            "refseq_ac": "NP_001189353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly integral membrane protein vma21",
                    "type": "recommended"
                },
                {
                    "name": "VMA21 vacuolar H+-ATPase homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly integral membrane protein vma21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vma21",
                    "type": "recommended"
                },
                {
                    "name": "si:ch73-26o5.1",
                    "type": "synonym"
                },
                {
                    "name": "vma21",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JLV7-1",
            "evidence": [
                {
                    "id": "0050760",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050760"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q78T54-1",
            "uniprot_ac": "Q78T54",
            "uniprot_id": "VMA21_MOUSE",
            "refseq_ac": "NP_001074825",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly integral membrane protein Vma21",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar ATPase assembly integral membrane protein Vma21 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly integral membrane protein Vma21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vma21",
                    "type": "recommended"
                },
                {
                    "name": "2610030H06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Vma21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q78T54-1",
            "evidence": [
                {
                    "id": "0050760",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050760"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3ZAQ7-1",
            "uniprot_ac": "Q3ZAQ7",
            "uniprot_id": "VMA21_HUMAN",
            "refseq_ac": "NP_001017980",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly integral membrane protein VMA21",
                    "type": "recommended"
                },
                {
                    "name": "Myopathy with excessive autophagy protein",
                    "type": "synonym"
                },
                {
                    "name": "VMA21 vacuolar H+-ATPase homolog",
                    "type": "synonym"
                },
                {
                    "name": "VMA21, vacuolar ATPase assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "myopathy with excessive autophagy protein",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly integral membrane protein VMA21 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly integral membrane protein VMA21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMA21",
                    "type": "recommended"
                },
                {
                    "name": "MEAX",
                    "type": "synonym"
                },
                {
                    "name": "VMA21",
                    "type": "synonym"
                },
                {
                    "name": "XMEA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3ZAQ7-1",
            "evidence": [
                {
                    "id": "310440",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/310440"
                },
                {
                    "id": "0050760",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050760"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41806-1",
            "uniprot_ac": "P41806",
            "uniprot_id": "VMA21_YEAST",
            "refseq_ac": "NP_011619",
            "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": "Vacuolar ATPase assembly integral membrane protein VMA21",
                    "type": "recommended"
                },
                {
                    "name": "Vma21p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMA21",
                    "type": "recommended"
                },
                {
                    "name": "VMA21",
                    "type": "synonym"
                }
            ],
            "record_id": "P41806-1",
            "evidence": [
                {
                    "id": "0050760",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050760"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZM03-1",
            "uniprot_ac": "D3ZM03",
            "uniprot_id": "D3ZM03_RAT",
            "refseq_ac": "NP_001389190",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "VMA21 vacuolar H+-ATPase homolog",
                    "type": "synonym"
                },
                {
                    "name": "VMA21, vacuolar ATPase assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar ATPase assembly factor VMA21",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly integral membrane protein VMA21 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly integral membrane protein VMA21-like",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly integral membrane protein VMA21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vma21",
                    "type": "recommended"
                },
                {
                    "name": "RGD1566155",
                    "type": "synonym"
                },
                {
                    "name": "Vma21",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZM03-1",
            "evidence": [
                {
                    "id": "0050760",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050760"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPE4-1",
            "uniprot_ac": "Q9VPE4",
            "uniprot_id": "VMA21_DROME",
            "refseq_ac": "NP_788549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly integral membrane protein VMA21 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG5969-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:GM09417",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RE53796",
                    "type": "synonym"
                },
                {
                    "name": "CG32426",
                    "type": "synonym"
                },
                {
                    "name": "CG5969",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5969",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPE4-1",
            "evidence": [
                {
                    "id": "0050760",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050760"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDZ5-1",
            "uniprot_ac": "Q9VDZ5",
            "uniprot_id": "Q9VDZ5_DROME",
            "refseq_ac": "NP_732404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly integral membrane protein VMA21 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG42359-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG5558",
                    "type": "recommended"
                },
                {
                    "name": "CG42359",
                    "type": "synonym"
                },
                {
                    "name": "CG5558",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42359",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42359",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDZ5-1",
            "evidence": [
                {
                    "id": "0050760",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050760"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050760"
}