{
    "disease_id": "DOID:0111233",
    "recommended_name": {
        "id": "DOID:0111233",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111233",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A14",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111233",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111233",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related",
            "description": ""
        },
        {
            "id": "DOID:0111233",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111233",
            "name": "MDDGA14",
            "description": ""
        },
        {
            "id": "DOID:0111233",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111233",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14",
            "description": ""
        },
        {
            "id": "MONDO:0014140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014140",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
            "description": ""
        },
        {
            "id": "MONDO:0014140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014140",
            "name": "muscle-eye-brain-GMPPB related",
            "description": ""
        },
        {
            "id": "MONDO:0014140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014140",
            "name": "MDDGA14",
            "description": ""
        },
        {
            "id": "MONDO:0014140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014140",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14",
            "description": ""
        },
        {
            "id": "MIM:615350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615350",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111233"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111233",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111233",
            "categories": []
        },
        {
            "id": "MONDO:0014140",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014140",
            "categories": []
        },
        {
            "id": "MIM:615350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DBU5-1",
            "uniprot_ac": "Q6DBU5",
            "uniprot_id": "GMPPB_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B",
                    "type": "synonym"
                },
                {
                    "name": "GTP-mannose-1-phosphate guanylyltransferase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gmppb",
                    "type": "recommended"
                },
                {
                    "name": "cb1066",
                    "type": "synonym"
                },
                {
                    "name": "fc79b10",
                    "type": "synonym"
                },
                {
                    "name": "gmppl",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc79b10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92026",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DBU5-1",
            "evidence": [
                {
                    "id": "0111233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BTZ7-1",
            "uniprot_ac": "Q8BTZ7",
            "uniprot_id": "GMPPB_MOUSE",
            "refseq_ac": "NP_808578",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B",
                    "type": "synonym"
                },
                {
                    "name": "GTP-mannose-1-phosphate guanylyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gmppb",
                    "type": "recommended"
                },
                {
                    "name": "E430010H19",
                    "type": "synonym"
                },
                {
                    "name": "Gmppb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BTZ7-1",
            "evidence": [
                {
                    "id": "0111233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5P6-1",
            "uniprot_ac": "Q9Y5P6",
            "uniprot_id": "GMPPB_HUMAN",
            "refseq_ac": "NP_068806",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B",
                    "type": "synonym"
                },
                {
                    "name": "GTP-mannose-1-phosphate guanylyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanylyltransferase catalytic subunit beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GMPPB",
                    "type": "recommended"
                },
                {
                    "name": "GMPPB",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR19",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA14",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB14",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5P6-1",
            "evidence": [
                {
                    "id": "0014140",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014140"
                },
                {
                    "id": "615350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615350"
                },
                {
                    "id": "GMPPB",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GMPPB/#!details"
                },
                {
                    "id": "0111233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41940-1",
            "uniprot_ac": "P41940",
            "uniprot_id": "MPG1_YEAST",
            "refseq_ac": "NP_010228",
            "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": "Mannose-1-phosphate guanyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-mannose-1-phosphate guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "NDP-hexose pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSA1",
                    "type": "recommended"
                },
                {
                    "name": "MPG1",
                    "type": "synonym"
                },
                {
                    "name": "PSA1",
                    "type": "synonym"
                },
                {
                    "name": "SRB1",
                    "type": "synonym"
                },
                {
                    "name": "VIG9",
                    "type": "synonym"
                }
            ],
            "record_id": "P41940-1",
            "evidence": [
                {
                    "id": "0111233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7JZB4-1",
            "uniprot_ac": "Q7JZB4",
            "uniprot_id": "GMPPB_DROME",
            "refseq_ac": "NP_001189177",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "type": "synonym"
                },
                {
                    "name": "CG1129-PD",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B",
                    "type": "synonym"
                },
                {
                    "name": "GTP-mannose-1-phosphate guanylyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "Gmppb-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gmppb",
                    "type": "recommended"
                },
                {
                    "name": "CG1129",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1129",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1129",
                    "type": "synonym"
                },
                {
                    "name": "Gmppb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7JZB4-1",
            "evidence": [
                {
                    "id": "0111233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111233"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111233"
}