{
    "disease_id": "DOID:0070255",
    "recommended_name": {
        "id": "DOID:0070255",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070255",
        "name": "congenital disorder of glycosylation type IIc",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070255",
            "name": "CDG IIc",
            "description": ""
        },
        {
            "id": "DOID:0070255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070255",
            "name": "CDG2C",
            "description": ""
        },
        {
            "id": "DOID:0070255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070255",
            "name": "CDGIIc",
            "description": ""
        },
        {
            "id": "DOID:0070255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070255",
            "name": "Rambam-Hasharon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "leukocyte adhesion deficiency type II",
            "description": "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit."
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "CDG IIc",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "CDG syndrome type IIc",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "CDG-IIc",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "CDG2C",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "CDGIIc",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "LAD-II",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "LAD2",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "RHS",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "Rambam-Hasharon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "SLC35C1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "lad-II",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "lad-type II",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "leukocyte adhesion deficiency type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "leukocyte adhesion deficiency type II",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "leukocyte adhesion deficiency, type II",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "sialyl-Lewis X defect",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "CDG 2C",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "SLC35C1-CDG (CDG-IIc)",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "congenital disorder of glycosylation type IIC",
            "description": ""
        },
        {
            "id": "MONDO:0009953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "name": "congenital disorder of glycosylation, type IIc",
            "description": ""
        },
        {
            "id": "MIM:266265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266265",
            "name": "Congenital disorder of glycosylation 2C",
            "description": "Congenital disorder of glycosylation 2C"
        }
    ],
    "children": [],
    "id_list": [
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    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070255",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070255",
            "categories": []
        },
        {
            "id": "MONDO:0009953",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009953",
            "categories": []
        },
        {
            "id": "MIM:266265",
            "database": "MIM",
            "url": "https://www.omim.org/entry/266265",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q96A29",
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                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
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                }
            ],
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                    "type": "recommended"
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                {
                    "name": "CDG2C",
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                },
                {
                    "name": "FUCT1",
                    "type": "synonym"
                },
                {
                    "name": "SLC35C1",
                    "type": "synonym"
                }
            ],
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                    "id": "55343",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/55343#disease"
                },
                {
                    "id": "0009953",
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                    "url": "https://monarchinitiative.org/disease/MONDO:0009953"
                },
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                    "url": "https://www.omim.org/entry/266265"
                },
                {
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                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SLC35C1/#!details"
                },
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                    "id": "0070255",
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                }
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "type": "recommended"
                },
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                    "name": "fc03b12",
                    "type": "synonym"
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                {
                    "name": "slc35c1",
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                {
                    "name": "wu:fc03b12",
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                },
                {
                    "name": "zgc:101867",
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                    "id": "0070255",
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Solute carrier family 35 member C1",
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                {
                    "name": "multispan transmembrane protein fuct1",
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            ],
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                {
                    "name": "Slc35c1",
                    "type": "recommended"
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                {
                    "name": "E430007K15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fuct1",
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                },
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                {
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                    "name": "GDP-mannose 4,6 dehydratase",
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                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
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                    "type": "synonym"
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                {
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            "uniprot_ac": "A0ABK0LPT0",
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            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
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                {
                    "name": "Solute carrier family 35 member C1",
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                    "name": "Drosophila melanogaster",
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                }
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                {
                    "name": "Neuronally altered carbohydrate",
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                },
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070255"
}