{
    "disease_id": "DOID:0110290",
    "recommended_name": {
        "id": "DOID:0110290",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110290",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2X",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110290",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110290",
            "name": "LGMD2X",
            "description": ""
        },
        {
            "id": "DOID:0110290",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110290",
            "name": "muscular dystrophy, limb-girdle, type 2X",
            "description": ""
        },
        {
            "id": "MONDO:0014782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2X",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers."
        },
        {
            "id": "MONDO:0014782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "name": "BVES autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "name": "LGMD2X",
            "description": ""
        },
        {
            "id": "MONDO:0014782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES",
            "description": ""
        },
        {
            "id": "MONDO:0014782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "name": "autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 25",
            "description": ""
        },
        {
            "id": "MONDO:0014782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "name": "muscular dystrophy, limb-girdle, type 2X",
            "description": ""
        },
        {
            "id": "MONDO:0014782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "name": "muscular dystrophy, limb-girdle, type 2x",
            "description": ""
        },
        {
            "id": "MIM:616812",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616812",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 25",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110290"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110290",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110290",
            "categories": []
        },
        {
            "id": "MONDO:0014782",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014782",
            "categories": []
        },
        {
            "id": "MIM:616812",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616812",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5PQZ7-1",
            "uniprot_ac": "Q5PQZ7",
            "uniprot_id": "POPD1_DANRE",
            "refseq_ac": "NP_001001847",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Popeye domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "BVES",
                    "type": "synonym"
                },
                {
                    "name": "Blood vessel epicardial substance",
                    "type": "synonym"
                },
                {
                    "name": "Popeye protein 1",
                    "type": "synonym"
                },
                {
                    "name": "blood vessel epicardial substance",
                    "type": "synonym"
                },
                {
                    "name": "hBVES",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "popdc1",
                    "type": "recommended"
                },
                {
                    "name": "bves",
                    "type": "synonym"
                },
                {
                    "name": "hBVES",
                    "type": "synonym"
                },
                {
                    "name": "pop1",
                    "type": "synonym"
                },
                {
                    "name": "popdc1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86887",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQZ7-1",
            "evidence": [
                {
                    "id": "0110290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ES83-1",
            "uniprot_ac": "Q9ES83",
            "uniprot_id": "POPD1_MOUSE",
            "refseq_ac": "NP_077247",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Popeye domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Blood vessel epicardial substance",
                    "type": "synonym"
                },
                {
                    "name": "Popeye protein 1",
                    "type": "synonym"
                },
                {
                    "name": "blood vessel epicardial substance",
                    "type": "synonym"
                },
                {
                    "name": "mBVES",
                    "type": "synonym"
                },
                {
                    "name": "popeye 1",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain-containing protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "popeye protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Popdc1",
                    "type": "recommended"
                },
                {
                    "name": "Bves",
                    "type": "synonym"
                },
                {
                    "name": "Pop1",
                    "type": "synonym"
                },
                {
                    "name": "Popdc1",
                    "type": "synonym"
                },
                {
                    "name": "mBVES",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES83-1",
            "evidence": [
                {
                    "id": "0110290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NE79-1",
            "uniprot_ac": "Q8NE79",
            "uniprot_id": "POPD1_HUMAN",
            "refseq_ac": "NP_001186492",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Popeye domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Popeye protein 1",
                    "type": "synonym"
                },
                {
                    "name": "blood vessel epicardial substance",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POPDC1",
                    "type": "recommended"
                },
                {
                    "name": "BVES",
                    "type": "synonym"
                },
                {
                    "name": "CARICK",
                    "type": "synonym"
                },
                {
                    "name": "HBVES",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2X",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR25",
                    "type": "synonym"
                },
                {
                    "name": "POP1",
                    "type": "synonym"
                },
                {
                    "name": "POPDC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NE79-1",
            "evidence": [
                {
                    "id": "616812",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616812"
                },
                {
                    "id": "0110290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3BCU4-1",
            "uniprot_ac": "Q3BCU4",
            "uniprot_id": "POPD1_RAT",
            "refseq_ac": "NP_001071058",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Popeye domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Blood vessel epicardial substance",
                    "type": "synonym"
                },
                {
                    "name": "Popeye protein 1",
                    "type": "synonym"
                },
                {
                    "name": "blood vessel epicardial substance",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain-containing 1",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "popeye protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Popdc1",
                    "type": "recommended"
                },
                {
                    "name": "Bves",
                    "type": "synonym"
                },
                {
                    "name": "Pop1",
                    "type": "synonym"
                },
                {
                    "name": "Popdc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3BCU4-1",
            "evidence": [
                {
                    "id": "0110290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRE2-1",
            "uniprot_ac": "Q9VRE2",
            "uniprot_id": "Q9VRE2_DROME",
            "refseq_ac": "NP_608426",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bves, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Bves, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "CG32513-PA",
                    "type": "synonym"
                },
                {
                    "name": "bves, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "bves-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bves",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:SD21670",
                    "type": "synonym"
                },
                {
                    "name": "CG15448",
                    "type": "synonym"
                },
                {
                    "name": "CG1544",
                    "type": "synonym"
                },
                {
                    "name": "CG1754",
                    "type": "synonym"
                },
                {
                    "name": "CG32513",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32513",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32513",
                    "type": "synonym"
                },
                {
                    "name": "bves",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRE2-1",
            "evidence": [
                {
                    "id": "0110290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110290"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110290"
}