{
    "disease_id": "DOID:0111240",
    "recommended_name": {
        "id": "DOID:0111240",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111240",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A2",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111240",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111240",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2",
            "description": ""
        },
        {
            "id": "DOID:0111240",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111240",
            "name": "MDDGA2",
            "description": ""
        },
        {
            "id": "DOID:0111240",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111240",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2",
            "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation."
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "MDDGA2",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "muscle-eye-brain-POMT2 related",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2",
            "description": ""
        },
        {
            "id": "MIM:613150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613150",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111240"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111240",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111240",
            "categories": []
        },
        {
            "id": "MONDO:0013154",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "categories": []
        },
        {
            "id": "MIM:613150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9W5D4-1",
            "uniprot_ac": "Q9W5D4",
            "uniprot_id": "POMT2_DROME",
            "refseq_ac": "NP_001259102",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG12311-PB; tw-PB; protein O-mannosyltransferase 2; tricky-dickey; twist; twisted; twisted abdomen",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DmPOMT2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein twisted",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dPOMT2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "twisted, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tw",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG12311; Dmel\\CG12311; DmPOMT2; dPomt2; dPOMT2; DPOMT2; EG:34F3.7; POMT-2; Pomt2; POMT2; Tw",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG12311",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DPOMT2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DmPOMT2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12311",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12311",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "EG:34F3.7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "POMT-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "POMT2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Pomt2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tw",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dPOMT2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dPomt2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tw",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111240",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGQ4-1",
            "uniprot_ac": "Q8BGQ4",
            "uniprot_id": "POMT2_MOUSE",
            "refseq_ac": "NP_700464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomt2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Pomt2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111240",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42934-1",
            "uniprot_ac": "P42934",
            "uniprot_id": "PMT6_YEAST",
            "refseq_ac": "NP_011715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose-protein mannosyltransferase PMT6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMT6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "G7722",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PMT6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111240",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31382-1",
            "uniprot_ac": "P31382",
            "uniprot_id": "PMT2_YEAST",
            "refseq_ac": "NP_009379",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose-protein mannosyltransferase PMT2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMT2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "FUN25",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FUN25",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PMT2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111240",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47190-1",
            "uniprot_ac": "P47190",
            "uniprot_id": "PMT3_YEAST",
            "refseq_ac": "NP_014966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose-protein mannosyltransferase PMT3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMT3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "O6148",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PMT3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111240",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKY4-1",
            "uniprot_ac": "Q9UKY4",
            "uniprot_id": "POMT2_HUMAN",
            "refseq_ac": "NP_037514",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMT2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "LGMD2N; LGMDR14; MDDGA2; MDDGB2; MDDGC2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "POMT2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "POMT2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details"
                },
                {
                    "id": "0111240",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111240"
                },
                {
                    "id": "613150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1Q8R9-1",
            "uniprot_ac": "F1Q8R9",
            "uniprot_id": "POMT2_DANRE",
            "refseq_ac": "NP_001038498",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pomt2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "im:7153045; zgc:158749; zPOMT2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pomt2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111240",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14U74-1",
            "uniprot_ac": "Q14U74",
            "uniprot_id": "Q14U74_RAT",
            "refseq_ac": "NP_001040579",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomt2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Pomt2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111240",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111240"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111240"
}