{
    "disease_id": "DOID:0061267",
    "recommended_name": {
        "id": "DOID:0061267",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061267",
        "name": "lethal congenital contracture syndrome 11",
        "description": "A lethal congenital contracture syndrome characterized by multiple flexion and extension joint contractures resulting from reduced or absent fetal movements that has_material_basis_in homozygous or compound heterozygous mutation in the GLDN gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "name": "lethal congenital contracture syndrome 11",
            "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene."
        },
        {
            "id": "MONDO:0014965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "name": "GLDN lethal congenital contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "name": "LCCS11",
            "description": ""
        },
        {
            "id": "MONDO:0014965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "name": "lethal congenital contracture syndrome 11",
            "description": ""
        },
        {
            "id": "MONDO:0014965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "name": "lethal congenital contracture syndrome 11; LCCS11",
            "description": ""
        },
        {
            "id": "MONDO:0014965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "name": "lethal congenital contracture syndrome caused by mutation in GLDN",
            "description": ""
        },
        {
            "id": "MONDO:0014965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "name": "lethal congenital contracture syndrome type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "name": "lethal congenital contracture arthrogryposis-11",
            "description": ""
        },
        {
            "id": "MIM:617194",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617194",
            "name": "Lethal congenital contracture syndrome 11",
            "description": "Lethal congenital contracture syndrome 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061267"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061267",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061267",
            "categories": []
        },
        {
            "id": "MONDO:0014965",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014965",
            "categories": []
        },
        {
            "id": "MIM:617194",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617194",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6ZMI3-1",
            "uniprot_ac": "Q6ZMI3",
            "uniprot_id": "GLDN_HUMAN",
            "refseq_ac": "NP_001317226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gliomedin",
                    "type": "recommended"
                },
                {
                    "name": "collomin",
                    "type": "synonym"
                },
                {
                    "name": "colmedin",
                    "type": "synonym"
                },
                {
                    "name": "gliomedin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLDN",
                    "type": "recommended"
                },
                {
                    "name": "CLOM",
                    "type": "synonym"
                },
                {
                    "name": "COLM",
                    "type": "synonym"
                },
                {
                    "name": "CRG-L2",
                    "type": "synonym"
                },
                {
                    "name": "CRGL2",
                    "type": "synonym"
                },
                {
                    "name": "GLDN",
                    "type": "synonym"
                },
                {
                    "name": "LCCS11",
                    "type": "synonym"
                },
                {
                    "name": "PRO34011",
                    "type": "synonym"
                },
                {
                    "name": "UNC-112",
                    "type": "synonym"
                },
                {
                    "name": "UNC-122",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZMI3-1",
            "evidence": [
                {
                    "id": "617194",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617194"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061267"
}