{
    "disease_id": "DOID:0110294",
    "recommended_name": {
        "id": "DOID:0110294",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110294",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2T",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110294",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110294",
            "name": "LGMD2T",
            "description": ""
        },
        {
            "id": "DOID:0110294",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110294",
            "name": "MDDGC14",
            "description": ""
        },
        {
            "id": "DOID:0110294",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110294",
            "name": "muscular dystrophy limb-girdle type 2T",
            "description": ""
        },
        {
            "id": "DOID:0110294",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110294",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14",
            "description": ""
        },
        {
            "id": "DOID:0110294",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110294",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2T",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency."
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "GMPPB autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "LGMD-GMPPB related",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "LGMD2T",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "MDDGC14",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "muscular dystrophy limb-girdle type 2T",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "limb-girdle muscular dystrophy type 2T",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "muscular dystrophy, limb-girdle, type 2T",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14",
            "description": ""
        },
        {
            "id": "MONDO:0014142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "name": "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related",
            "description": ""
        },
        {
            "id": "MIM:615352",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615352",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C14",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110294"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110294",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110294",
            "categories": []
        },
        {
            "id": "MONDO:0014142",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014142",
            "categories": []
        },
        {
            "id": "MIM:615352",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615352",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG1129-PD; Gmppb-PD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B, isoform D",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GTP-mannose-1-phosphate guanylyltransferase beta",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gmppb",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG1129; Dmel\\CG1129",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG1129",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1129",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1129",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Gmppb",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110294",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110294"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GTP-mannose-1-phosphate guanylyltransferase beta",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanyltransferase beta; GTP-mannose-1-phosphate guanylyltransferase beta",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gmppb",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "E430010H19",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Gmppb",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110294",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110294"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP-mannose-1-phosphate guanylyltransferase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NDP-hexose pyrophosphorylase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanylyltransferase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSA1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MPG1; SRB1; VIG9",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MPG1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PSA1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SRB1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "VIG9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110294",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110294"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5P6-1",
            "uniprot_ac": "Q9Y5P6",
            "uniprot_id": "GMPPB_HUMAN",
            "refseq_ac": "NP_037466",
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GTP-mannose-1-phosphate guanylyltransferase beta",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanyltransferase beta; GTP-mannose-1-phosphate guanylyltransferase beta; mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mannose-1-phosphate guanylyltransferase catalytic subunit beta isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GMPPB",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GMPPB",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR19; MDDGA14; MDDGB14; MDDGC14",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "GMPPB",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GMPPB/#!details"
                },
                {
                    "id": "0110294",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110294"
                },
                {
                    "id": "615352",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615352"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.13",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose pyrophosphorylase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GTP-mannose-1-phosphate guanylyltransferase beta",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gmppb",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "cb1066",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "fc79b10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "gmppl",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc79b10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92026",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110294",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110294"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A746-1",
            "uniprot_ac": "D4A746",
            "uniprot_id": "D4A746_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": "GDP-mannose pyrophosphorylase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gmppb",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0110294",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110294"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110294"
}