{
    "disease_id": "DOID:0110297",
    "recommended_name": {
        "id": "DOID:0110297",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110297",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2K",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)."
    },
    "synonyms": [
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1",
            "description": ""
        },
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "LGMD2K",
            "description": ""
        },
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "MDDGC1",
            "description": ""
        },
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "muscular dystrophy limb-girdle type 2K",
            "description": ""
        },
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "limb-girdle muscular dystrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2K",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported."
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "LGMD-POMT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "LGMD2K",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "MDDGC1",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "limb-girdle muscular dystrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "limb-girdle muscular dystrophy - intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "limb-girdle muscular dystrophy type 2K",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1",
            "description": ""
        },
        {
            "id": "MIM:609308",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609308",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110297"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110297",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "categories": []
        },
        {
            "id": "MONDO:0012248",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "categories": []
        },
        {
            "id": "MIM:609308",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609308",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QF89-1",
            "uniprot_ac": "F1QF89",
            "uniprot_id": "POMT1_DANRE",
            "refseq_ac": "NP_001041532",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pomt1",
                    "type": "recommended"
                },
                {
                    "name": "pomt1",
                    "type": "synonym"
                },
                {
                    "name": "zPOMT1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153731",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QF89-1",
            "evidence": [
                {
                    "id": "0110297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R2R1-1",
            "uniprot_ac": "Q8R2R1",
            "uniprot_id": "POMT1_MOUSE",
            "refseq_ac": "NP_660127",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomt1",
                    "type": "recommended"
                },
                {
                    "name": "Pomt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2R1-1",
            "evidence": [
                {
                    "id": "0110297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6A1-1",
            "uniprot_ac": "Q9Y6A1",
            "uniprot_id": "POMT1_HUMAN",
            "refseq_ac": "NP_001070833",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 57p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMT1",
                    "type": "recommended"
                },
                {
                    "name": "LGMD2K",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR11",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA1",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB1",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC1",
                    "type": "synonym"
                },
                {
                    "name": "POMT1",
                    "type": "synonym"
                },
                {
                    "name": "RT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6A1-1",
            "evidence": [
                {
                    "id": "609308",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609308"
                },
                {
                    "id": "POMT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details"
                },
                {
                    "id": "0110297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46971-1",
            "uniprot_ac": "P46971",
            "uniprot_id": "PMT4_YEAST",
            "refseq_ac": "NP_012677",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose-protein mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMT4",
                    "type": "recommended"
                },
                {
                    "name": "J2176",
                    "type": "synonym"
                },
                {
                    "name": "PMT4",
                    "type": "synonym"
                }
            ],
            "record_id": "P46971-1",
            "evidence": [
                {
                    "id": "0110297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99PR0-1",
            "uniprot_ac": "Q99PR0",
            "uniprot_id": "POMT1_RAT",
            "refseq_ac": "NP_445858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomt1",
                    "type": "recommended"
                },
                {
                    "name": "Pomt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PR0-1",
            "evidence": [
                {
                    "id": "0110297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTK2-1",
            "uniprot_ac": "Q9VTK2",
            "uniprot_id": "POMT1_DROME",
            "refseq_ac": "NP_524025",
            "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-mannosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "CG6097-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein rotated abdomen",
                    "type": "synonym"
                },
                {
                    "name": "dPOMT1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila protein O-mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "rotated abdomen",
                    "type": "synonym"
                },
                {
                    "name": "rt-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rt",
                    "type": "recommended"
                },
                {
                    "name": "CG6097",
                    "type": "synonym"
                },
                {
                    "name": "DPOMT1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6097",
                    "type": "synonym"
                },
                {
                    "name": "POMT-1",
                    "type": "synonym"
                },
                {
                    "name": "POMT1",
                    "type": "synonym"
                },
                {
                    "name": "Rot_abd",
                    "type": "synonym"
                },
                {
                    "name": "Rt",
                    "type": "synonym"
                },
                {
                    "name": "dPOMT1",
                    "type": "synonym"
                },
                {
                    "name": "dPomt1",
                    "type": "synonym"
                },
                {
                    "name": "fs(3)neo1",
                    "type": "synonym"
                },
                {
                    "name": "pomt",
                    "type": "synonym"
                },
                {
                    "name": "roa",
                    "type": "synonym"
                },
                {
                    "name": "rt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTK2-1",
            "evidence": [
                {
                    "id": "0110297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110297"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110297"
}