{
    "disease_id": "DOID:0070258",
    "recommended_name": {
        "id": "DOID:0070258",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070258",
        "name": "congenital disorder of glycosylation type IIf",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15."
    },
    "synonyms": [
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070258",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIf",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070258",
            "name": "CDG IIf",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070258",
            "name": "CDG2F",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070258",
            "name": "CMP-sialic acid transporter deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070258",
            "name": "SLC35A1-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070258",
            "name": "CDGIIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "SLC35A1-congenital disorder of glycosylation",
            "description": "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage."
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CDG syndrome type IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CDG-IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CDG2F",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CMP-sialic acid transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "SLC35A1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "SLC35A1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "carbohydrate deficient glycoprotein syndrome type IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "congenital disorder of glycosylation type 2f",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "congenital disorder of glycosylation type IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "SLC35A1-CDG (CDG-IIf)",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "congenital disorder of glycosylation, type IIf",
            "description": ""
        },
        {
            "id": "MIM:603585",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603585",
            "name": "Congenital disorder of glycosylation 2F",
            "description": "Congenital disorder of glycosylation 2F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070258"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070258",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070258",
            "categories": []
        },
        {
            "id": "MONDO:0011342",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "categories": []
        },
        {
            "id": "MIM:603585",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603585",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P78382-1",
            "uniprot_ac": "P78382",
            "uniprot_id": "S35A1_HUMAN",
            "refseq_ac": "NP_001161870",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CMP-sialic acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "CMP-SA-Tr",
                    "type": "synonym"
                },
                {
                    "name": "CMP-Sia-Tr",
                    "type": "synonym"
                },
                {
                    "name": "CMP-sialic acid transporter isoform b",
                    "type": "synonym"
                },
                {
                    "name": "CST",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 35 member A1",
                    "type": "synonym"
                },
                {
                    "name": "mutated CMP-sialic acid transporter A1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (CMP-sialic acid transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (CMP-sialic acid transporter), member A1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-galactose transporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC35A1",
                    "type": "recommended"
                },
                {
                    "name": "CDG2F",
                    "type": "synonym"
                },
                {
                    "name": "CMPST",
                    "type": "synonym"
                },
                {
                    "name": "CST",
                    "type": "synonym"
                },
                {
                    "name": "SLC35A1",
                    "type": "synonym"
                },
                {
                    "name": "hCST",
                    "type": "synonym"
                }
            ],
            "record_id": "P78382-1",
            "evidence": [
                {
                    "id": "10559",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/10559#disease"
                },
                {
                    "id": "0011342",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011342"
                },
                {
                    "id": "603585",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603585"
                },
                {
                    "id": "SLC35A1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SLC35A1/#!details"
                },
                {
                    "id": "0070258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61420-1",
            "uniprot_ac": "Q61420",
            "uniprot_id": "S35A1_MOUSE",
            "refseq_ac": "NP_036025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CMP-sialic acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "CMP-SA-Tr",
                    "type": "synonym"
                },
                {
                    "name": "CMP-Sia-Tr",
                    "type": "synonym"
                },
                {
                    "name": "CMP-sialic acid transporter isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "CMP-sialic acid transporter",
                    "type": "synonym"
                },
                {
                    "name": "CST",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 35 member A1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 member A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35a1",
                    "type": "recommended"
                },
                {
                    "name": "CMP-SA-Tr",
                    "type": "synonym"
                },
                {
                    "name": "CMP-Sia-Tr",
                    "type": "synonym"
                },
                {
                    "name": "CST",
                    "type": "synonym"
                },
                {
                    "name": "Slc35a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61420-1",
            "evidence": [
                {
                    "id": "0070258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JZH4-1",
            "uniprot_ac": "A0A0G2JZH4",
            "uniprot_id": "A0A0G2JZH4_RAT",
            "refseq_ac": "NP_001101394",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CMP-sialic acid transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 35 member A1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (CMP-sialic acid transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (CMP-sialic acid transporter), member A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35a1",
                    "type": "recommended"
                },
                {
                    "name": "Slc35a1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JZH4-1",
            "evidence": [
                {
                    "id": "0070258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070258"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070258"
}