{
    "disease_id": "DOID:0070266",
    "recommended_name": {
        "id": "DOID:0070266",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070266",
        "name": "congenital disorder of glycosylation type IIn",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070266",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIn",
            "description": ""
        },
        {
            "id": "DOID:0070266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070266",
            "name": "CDG IIn",
            "description": ""
        },
        {
            "id": "DOID:0070266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070266",
            "name": "CDG syndrome type IIn",
            "description": ""
        },
        {
            "id": "DOID:0070266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070266",
            "name": "CDG2N",
            "description": ""
        },
        {
            "id": "DOID:0070266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070266",
            "name": "Congenital disorder of glycosylation type 2n",
            "description": ""
        },
        {
            "id": "DOID:0070266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070266",
            "name": "SLC39A8-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070266",
            "name": "CDGIIn",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "SLC39A8-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "CDG syndrome type IIn",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "CDG-IIn",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "CDG2N",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "SLC39A8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "carbohydrate deficient glycoprotein syndrome type IIn",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "congenital disorder of glycosylation type 2n",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "congenital disorder of glycosylation type IIn",
            "description": ""
        },
        {
            "id": "MONDO:0014746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "name": "congenital disorder of glycosylation, type IIn",
            "description": ""
        },
        {
            "id": "MIM:616721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616721",
            "name": "Congenital disorder of glycosylation 2N",
            "description": "Congenital disorder of glycosylation 2N"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070266"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070266",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070266",
            "categories": []
        },
        {
            "id": "MONDO:0014746",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014746",
            "categories": []
        },
        {
            "id": "MIM:616721",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616721",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AYZ5-1",
            "uniprot_ac": "A0A8M3AYZ5",
            "uniprot_id": "A0A8M3AYZ5_DANRE",
            "refseq_ac": "XP_009305480",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal cation symporter ZIP8 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP8 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc39a8",
                    "type": "recommended"
                },
                {
                    "name": "slc39a8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AYZ5-1",
            "evidence": [
                {
                    "id": "0070266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91W10-1",
            "uniprot_ac": "Q91W10",
            "uniprot_id": "S39A8_MOUSE",
            "refseq_ac": "NP_001128621",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal cation symporter ZIP8",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 8",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-8",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 8",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP8 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP8",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a8",
                    "type": "recommended"
                },
                {
                    "name": "4933419D20Rik",
                    "type": "synonym"
                },
                {
                    "name": "BIGM103",
                    "type": "synonym"
                },
                {
                    "name": "Slc39a8",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-8",
                    "type": "synonym"
                },
                {
                    "name": "Zip8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91W10-1",
            "evidence": [
                {
                    "id": "0070266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0K1-1",
            "uniprot_ac": "Q9C0K1",
            "uniprot_id": "S39A8_HUMAN",
            "refseq_ac": "NP_001128618",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal cation symporter ZIP8",
                    "type": "recommended"
                },
                {
                    "name": "BCG induced integral membrane protein BIGM103",
                    "type": "synonym"
                },
                {
                    "name": "BCG-induced integral membrane protein in monocyte clone 103 protein",
                    "type": "synonym"
                },
                {
                    "name": "LIV-1 subfamily of ZIP zinc transporter 6",
                    "type": "synonym"
                },
                {
                    "name": "LZT-Hs6",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 8",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-8",
                    "type": "synonym"
                },
                {
                    "name": "ZRT/IRT-like protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Zinc transporter 8",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 8",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP8 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (metal ion transporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC39A8",
                    "type": "recommended"
                },
                {
                    "name": "BIGM103",
                    "type": "synonym"
                },
                {
                    "name": "CDG2N",
                    "type": "synonym"
                },
                {
                    "name": "LZT-Hs6",
                    "type": "synonym"
                },
                {
                    "name": "PP3105",
                    "type": "synonym"
                },
                {
                    "name": "SLC39A8",
                    "type": "synonym"
                },
                {
                    "name": "ZIP8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C0K1-1",
            "evidence": [
                {
                    "id": "0014746",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014746"
                },
                {
                    "id": "616721",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616721"
                },
                {
                    "id": "SLC39A8",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SLC39A8/#!details"
                },
                {
                    "id": "0070266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVQ0-1",
            "uniprot_ac": "Q5FVQ0",
            "uniprot_id": "S39A8_RAT",
            "refseq_ac": "NP_001011952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal cation symporter ZIP8",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 8",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-8",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 8",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP8 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (metal ion transporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP8",
                    "type": "synonym"
                },
                {
                    "name": "zrt- and Irt-like protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a8",
                    "type": "recommended"
                },
                {
                    "name": "Slc39a8",
                    "type": "synonym"
                },
                {
                    "name": "Zip8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVQ0-1",
            "evidence": [
                {
                    "id": "0070266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070266"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070266"
}