{
    "disease_id": "DOID:0060559",
    "recommended_name": {
        "id": "DOID:0060559",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060559",
        "name": "lethal congenital contracture syndrome 1",
        "description": "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0060559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060559",
            "name": "LCCS1",
            "description": ""
        },
        {
            "id": "DOID:0060559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060559",
            "name": "multiple contracture syndrome, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal congenital contracture syndrome 1",
            "description": "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies."
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "GLE1 lethal congenital contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "Herva disease",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "LCCS1",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal congenital contracture syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal congenital contracture syndrome caused by mutation in GLE1",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal congenital contracture syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "multiple contracture syndrome, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal autosomal recessive syndrome of multiple congenital contractures",
            "description": ""
        },
        {
            "id": "MIM:253310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253310",
            "name": "Lethal congenital contracture syndrome 1",
            "description": "Lethal congenital contracture syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060559"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060559",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060559",
            "categories": []
        },
        {
            "id": "MONDO:0009670",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "categories": []
        },
        {
            "id": "MIM:253310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DRB1-1",
            "uniprot_ac": "Q6DRB1",
            "uniprot_id": "GLE1_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": "mRNA export factor GLE1",
                    "type": "recommended"
                },
                {
                    "name": "GLE1 RNA export mediator",
                    "type": "synonym"
                },
                {
                    "name": "GLE1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin GLE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gle1",
                    "type": "recommended"
                },
                {
                    "name": "gle1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DRB1-1",
            "evidence": [
                {
                    "id": "0060559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R322-1",
            "uniprot_ac": "Q8R322",
            "uniprot_id": "GLE1_MOUSE",
            "refseq_ac": "NP_083199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "mRNA export factor GLE1",
                    "type": "recommended"
                },
                {
                    "name": "GLE1 RNA export mediator",
                    "type": "synonym"
                },
                {
                    "name": "GLE1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin GLE1",
                    "type": "synonym"
                },
                {
                    "name": "mRNA export factor GLE1",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin GLE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gle1",
                    "type": "recommended"
                },
                {
                    "name": "4933405K21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gle1l",
                    "type": "synonym"
                },
                {
                    "name": "Gle1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R322-1",
            "evidence": [
                {
                    "id": "0060559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q53GS7-1",
            "uniprot_ac": "Q53GS7",
            "uniprot_id": "GLE1_HUMAN",
            "refseq_ac": "NP_001003722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "mRNA export factor GLE1",
                    "type": "recommended"
                },
                {
                    "name": "GLE1 RNA export mediator homolog",
                    "type": "synonym"
                },
                {
                    "name": "GLE1 RNA export mediator",
                    "type": "synonym"
                },
                {
                    "name": "GLE1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "GLE1-like, RNA export mediator",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin GLE1",
                    "type": "synonym"
                },
                {
                    "name": "hGLE1",
                    "type": "synonym"
                },
                {
                    "name": "mRNA export factor GLE1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mRNA export factor GLE1",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin GLE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLE1",
                    "type": "recommended"
                },
                {
                    "name": "CAAHC",
                    "type": "synonym"
                },
                {
                    "name": "CAAHD",
                    "type": "synonym"
                },
                {
                    "name": "GLE1L",
                    "type": "synonym"
                },
                {
                    "name": "GLE1",
                    "type": "synonym"
                },
                {
                    "name": "LCCS1",
                    "type": "synonym"
                },
                {
                    "name": "LCCS",
                    "type": "synonym"
                },
                {
                    "name": "hGLE1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q53GS7-1",
            "evidence": [
                {
                    "id": "253310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/253310"
                },
                {
                    "id": "0060559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12315-1",
            "uniprot_ac": "Q12315",
            "uniprot_id": "GLE1_YEAST",
            "refseq_ac": "NP_010074",
            "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": "mRNA export factor GLE1",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear pore protein GLE1",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin GLE1",
                    "type": "synonym"
                },
                {
                    "name": "RNA export factor GLE1",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin GLE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLE1",
                    "type": "recommended"
                },
                {
                    "name": "BRR3",
                    "type": "synonym"
                },
                {
                    "name": "D1049",
                    "type": "synonym"
                },
                {
                    "name": "GLE1",
                    "type": "synonym"
                },
                {
                    "name": "NLE2",
                    "type": "synonym"
                },
                {
                    "name": "RSS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12315-1",
            "evidence": [
                {
                    "id": "0060559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KLN4-1",
            "uniprot_ac": "Q4KLN4",
            "uniprot_id": "GLE1_RAT",
            "refseq_ac": "NP_001020902",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "mRNA export factor GLE1",
                    "type": "recommended"
                },
                {
                    "name": "GLE1 RNA export mediator homolog",
                    "type": "synonym"
                },
                {
                    "name": "GLE1 RNA export mediator-like (yeast",
                    "type": "synonym"
                },
                {
                    "name": "GLE1 RNA export mediator",
                    "type": "synonym"
                },
                {
                    "name": "GLE1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin GLE1",
                    "type": "synonym"
                },
                {
                    "name": "mRNA export factor GLE1",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin GLE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gle1",
                    "type": "recommended"
                },
                {
                    "name": "Gle1l",
                    "type": "synonym"
                },
                {
                    "name": "Gle1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KLN4-1",
            "evidence": [
                {
                    "id": "0060559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M6G0-1",
            "uniprot_ac": "F1M6G0",
            "uniprot_id": "F1M6G0_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": "mRNA export factor GLE1",
                    "type": "recommended"
                },
                {
                    "name": "GLE1 RNA export mediator",
                    "type": "synonym"
                },
                {
                    "name": "GLE1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin GLE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gle1l1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565693",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M6G0-1",
            "evidence": [
                {
                    "id": "0060559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K222-1",
            "uniprot_ac": "A0A0G2K222",
            "uniprot_id": "A0A0G2K222_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": "mRNA export factor GLE1",
                    "type": "recommended"
                },
                {
                    "name": "GLE1 RNA export mediator",
                    "type": "synonym"
                },
                {
                    "name": "GLE1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin GLE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gle1-ps1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K222-1",
            "evidence": [
                {
                    "id": "0060559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4W1-1",
            "uniprot_ac": "Q9V4W1",
            "uniprot_id": "GLE1_DROME",
            "refseq_ac": "NP_610400",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "mRNA export factor Gle1",
                    "type": "recommended"
                },
                {
                    "name": "CG14749-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gle1 RNA export mediator",
                    "type": "synonym"
                },
                {
                    "name": "Gle1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Gle1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gle1",
                    "type": "recommended"
                },
                {
                    "name": "CG14749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14749",
                    "type": "synonym"
                },
                {
                    "name": "GLE1",
                    "type": "synonym"
                },
                {
                    "name": "Gle1",
                    "type": "synonym"
                },
                {
                    "name": "Gle",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4W1-1",
            "evidence": [
                {
                    "id": "0060559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060559"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060559"
}