{
    "disease_id": "DOID:0110660",
    "recommended_name": {
        "id": "DOID:0110660",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110660",
        "name": "congenital myasthenic syndrome 12",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110660",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110660",
            "name": "CMS12",
            "description": ""
        },
        {
            "id": "DOID:0110660",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110660",
            "name": "congenital myasthenia 12 with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "congenital myasthenic syndrome 12",
            "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene."
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "CMS12",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "GFPT1 congenital myasthenic syndromes with glycosylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "congenital myasthenic syndrome type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "myasthenia, congenital, 12, with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "myasthenic syndrome, congenital, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "myasthenic syndrome, congenital, 12",
            "description": ""
        },
        {
            "id": "MIM:610542",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610542",
            "name": "Myasthenic syndrome, congenital, 12",
            "description": "Myasthenic syndrome, congenital, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110660"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110660",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110660",
            "categories": []
        },
        {
            "id": "MONDO:0012518",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "categories": []
        },
        {
            "id": "MIM:610542",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610542",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q06210-1",
            "uniprot_ac": "Q06210",
            "uniprot_id": "GFPT1_HUMAN",
            "refseq_ac": "NP_001231639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "D-fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT 1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamine:fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Hexosephosphate aminotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine:fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "hexosephosphate aminotransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GFPT1",
                    "type": "recommended"
                },
                {
                    "name": "CMS12",
                    "type": "synonym"
                },
                {
                    "name": "CMSTA1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT 1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT1m",
                    "type": "synonym"
                },
                {
                    "name": "GFAT1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT",
                    "type": "synonym"
                },
                {
                    "name": "GFA",
                    "type": "synonym"
                },
                {
                    "name": "GFPT1L",
                    "type": "synonym"
                },
                {
                    "name": "GFPT1",
                    "type": "synonym"
                },
                {
                    "name": "GFPT",
                    "type": "synonym"
                },
                {
                    "name": "MSLG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06210-1",
            "evidence": [
                {
                    "id": "2673",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/2673#disease"
                },
                {
                    "id": "610542",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610542"
                },
                {
                    "id": "GFPT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GFPT1/#!details"
                },
                {
                    "id": "0110660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47856-1",
            "uniprot_ac": "P47856",
            "uniprot_id": "GFPT1_MOUSE",
            "refseq_ac": "NP_038556",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "D-fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT 1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamine:fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Hexosephosphate aminotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine:fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "hexosephosphate aminotransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfpt1",
                    "type": "recommended"
                },
                {
                    "name": "2810423A18Rik",
                    "type": "synonym"
                },
                {
                    "name": "GFAT1m",
                    "type": "synonym"
                },
                {
                    "name": "GFAT1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT",
                    "type": "synonym"
                },
                {
                    "name": "GFA",
                    "type": "synonym"
                },
                {
                    "name": "Gfpt1",
                    "type": "synonym"
                },
                {
                    "name": "Gfpt",
                    "type": "synonym"
                }
            ],
            "record_id": "P47856-1",
            "evidence": [
                {
                    "id": "0110660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CF18-1",
            "uniprot_ac": "P0CF18",
            "uniprot_id": "YM085_YEAST",
            "refseq_ac": "NP_013802",
            "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": "Uncharacterized protein YMR085W",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [],
            "record_id": "P0CF18-1",
            "evidence": [
                {
                    "id": "0110660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14742-1",
            "uniprot_ac": "P14742",
            "uniprot_id": "GFA1_YEAST",
            "refseq_ac": "NP_012818",
            "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": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing]",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "D-fructose-6-phosphate amidotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GFAT",
                    "type": "synonym"
                },
                {
                    "name": "Hexosephosphate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "glutamine--fructose-6-phosphate transaminase (isomerizing) GFA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GFA1",
                    "type": "recommended"
                },
                {
                    "name": "GFA1",
                    "type": "synonym"
                },
                {
                    "name": "YKL457",
                    "type": "synonym"
                }
            ],
            "record_id": "P14742-1",
            "evidence": [
                {
                    "id": "0110660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2P2R3-1",
            "uniprot_ac": "A2P2R3",
            "uniprot_id": "YM084_YEAST",
            "refseq_ac": "NP_013801",
            "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": "Putative glutamine--fructose-6-phosphate aminotransferase [isomerizing]",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "D-fructose-6-phosphate amidotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GFAT",
                    "type": "synonym"
                },
                {
                    "name": "Hexosephosphate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "putative glutamine--fructose-6-phosphate transaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [],
            "record_id": "A2P2R3-1",
            "evidence": [
                {
                    "id": "0110660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82808-1",
            "uniprot_ac": "P82808",
            "uniprot_id": "GFPT1_RAT",
            "refseq_ac": "NP_001005879",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "D-fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT 1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamine:fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Hexosephosphate aminotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine:fructose-6-phosphate amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "hexosephosphate aminotransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfpt1",
                    "type": "recommended"
                },
                {
                    "name": "GFAT1m",
                    "type": "synonym"
                },
                {
                    "name": "GFAT1",
                    "type": "synonym"
                },
                {
                    "name": "GFAT",
                    "type": "synonym"
                },
                {
                    "name": "GFA",
                    "type": "synonym"
                },
                {
                    "name": "Gfpt1",
                    "type": "synonym"
                },
                {
                    "name": "Gfpt",
                    "type": "synonym"
                }
            ],
            "record_id": "P82808-1",
            "evidence": [
                {
                    "id": "0110660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAW3-1",
            "uniprot_ac": "Q9VAW3",
            "uniprot_id": "Q9VAW3_DROME",
            "refseq_ac": "NP_651617",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "glutamine--fructose-6-phosphate transaminase (isomerizing)",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "CG1345-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gfat2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glutamine:fructose-6-phosphate aminotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "glucose-fructose amidotransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfat2",
                    "type": "recommended"
                },
                {
                    "name": "CG1345",
                    "type": "synonym"
                },
                {
                    "name": "Dmel/GFAT2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1345",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1345",
                    "type": "synonym"
                },
                {
                    "name": "GFAT2",
                    "type": "synonym"
                },
                {
                    "name": "Gfat2",
                    "type": "synonym"
                },
                {
                    "name": "gfat2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAW3-1",
            "evidence": [
                {
                    "id": "0110660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7PLC7-1",
            "uniprot_ac": "Q7PLC7",
            "uniprot_id": "Q7PLC7_DROME",
            "refseq_ac": "NP_001015157",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "glutamine--fructose-6-phosphate transaminase (isomerizing)",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.16",
                    "type": "synonym"
                },
                {
                    "name": "CG12449-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gfat1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glutamine: Fructose-6-Phosphate aminotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamine:fructose-6-phosphate aminotransferase 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "glucose-fructose amidotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "zeppelin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfat1",
                    "type": "recommended"
                },
                {
                    "name": "CG12449",
                    "type": "synonym"
                },
                {
                    "name": "CG40197",
                    "type": "synonym"
                },
                {
                    "name": "Dmel/Gfat1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12449",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12449",
                    "type": "synonym"
                },
                {
                    "name": "GFAT",
                    "type": "synonym"
                },
                {
                    "name": "Gfat1",
                    "type": "synonym"
                },
                {
                    "name": "Gfat",
                    "type": "synonym"
                },
                {
                    "name": "gfat1",
                    "type": "synonym"
                },
                {
                    "name": "gfat",
                    "type": "synonym"
                },
                {
                    "name": "zep",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7PLC7-1",
            "evidence": [
                {
                    "id": "0110660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110660"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110660"
}