{
    "disease_id": "DOID:0110287",
    "recommended_name": {
        "id": "DOID:0110287",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110287",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2S",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35."
    },
    "synonyms": [
        {
            "id": "DOID:0110287",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110287",
            "name": "LGMD2S",
            "description": ""
        },
        {
            "id": "DOID:0110287",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110287",
            "name": "muscular dystrophy, limb-girdle, type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "autosomal recessive limb-girdle muscular dystrophy type R18",
            "description": "A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures."
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "LGMD2S",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 18",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "muscular dystrophy, limb-girdle, type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "limb-girdle muscular dystrophy type 2S",
            "description": ""
        },
        {
            "id": "MIM:615356",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615356",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 18",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110287"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110287",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110287",
            "categories": []
        },
        {
            "id": "MONDO:0014144",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "categories": []
        },
        {
            "id": "MIM:615356",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615356",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1RLX4-1",
            "uniprot_ac": "Q1RLX4",
            "uniprot_id": "TPC11_DANRE",
            "refseq_ac": "NP_955920",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "FLJ12716-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein foie gras",
                    "type": "synonym"
                },
                {
                    "name": "protein foie gras",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 11",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trappc11",
                    "type": "recommended"
                },
                {
                    "name": "c4orf41",
                    "type": "synonym"
                },
                {
                    "name": "fb78g05",
                    "type": "synonym"
                },
                {
                    "name": "fgr",
                    "type": "synonym"
                },
                {
                    "name": "flj12716l",
                    "type": "synonym"
                },
                {
                    "name": "foigr",
                    "type": "synonym"
                },
                {
                    "name": "trappc11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb78g05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136723",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63684",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1RLX4-1",
            "evidence": [
                {
                    "id": "0110287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RXC1-1",
            "uniprot_ac": "B2RXC1",
            "uniprot_id": "TPC11_MOUSE",
            "refseq_ac": "NP_796214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "trafficking protein particle complex subunit 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc11",
                    "type": "recommended"
                },
                {
                    "name": "D030016E14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Trappc11",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RXC1-1",
            "evidence": [
                {
                    "id": "0110287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z392-1",
            "uniprot_ac": "Q7Z392",
            "uniprot_id": "TPC11_HUMAN",
            "refseq_ac": "NP_068761",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "foie gras homolog",
                    "type": "synonym"
                },
                {
                    "name": "gryzun homolog",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 11",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 11 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAPPC11",
                    "type": "recommended"
                },
                {
                    "name": "C4orf41",
                    "type": "synonym"
                },
                {
                    "name": "FOIGR",
                    "type": "synonym"
                },
                {
                    "name": "GRY",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2S",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR18",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z392-1",
            "evidence": [
                {
                    "id": "0014144",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014144"
                },
                {
                    "id": "615356",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615356"
                },
                {
                    "id": "0110287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K1K5-1",
            "uniprot_ac": "A0A0G2K1K5",
            "uniprot_id": "A0A0G2K1K5_RAT",
            "refseq_ac": "NP_001162586",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "trafficking protein particle complex 11",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc11",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309765",
                    "type": "synonym"
                },
                {
                    "name": "Trappc11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K1K5-1",
            "evidence": [
                {
                    "id": "0110287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRE3-1",
            "uniprot_ac": "Q8IRE3",
            "uniprot_id": "Q8IRE3_DROME",
            "refseq_ac": "NP_647785",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "CG17569-PB",
                    "type": "synonym"
                },
                {
                    "name": "gry-PB",
                    "type": "synonym"
                },
                {
                    "name": "gryzun",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 63Bd",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gry",
                    "type": "recommended"
                },
                {
                    "name": "CG17569",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17569",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17569",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC11",
                    "type": "synonym"
                },
                {
                    "name": "gryz",
                    "type": "synonym"
                },
                {
                    "name": "gry",
                    "type": "synonym"
                },
                {
                    "name": "l(3)63Bd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRE3-1",
            "evidence": [
                {
                    "id": "0110287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110287"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110287"
}