{
    "disease_id": "DOID:0070265",
    "recommended_name": {
        "id": "DOID:0070265",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070265",
        "name": "congenital disorder of glycosylation type IIm",
        "description": "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "SLC35A2-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "congenital disorder of glycosylation type 2m",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "epileptic encephalopathy, early infantile, 22",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "developmental and epileptic encephalopathy 22",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "CDG IIm",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "CDGIIm",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "DEE22",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "EIEE22",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "SLC35A2-congenital disorder of glycosylation",
            "description": "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)."
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "CDG syndrome type IIm",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "CDG-IIm",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "CDG2M",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "SLC35A2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "SLC35A2-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "congenital disorder of glycosylation type 2m",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "congenital disorder of glycosylation type IIm",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "EIEE22",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "congenital disorder of glycosylation, type IIm",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "epileptic encephalopathy, early infantile, 22",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "epileptic encephalopathy, early infantile, 22; EIEE22",
            "description": ""
        },
        {
            "id": "MIM:300896",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300896",
            "name": "Congenital disorder of glycosylation 2M",
            "description": "Congenital disorder of glycosylation 2M"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070265"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070265",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "categories": []
        },
        {
            "id": "MONDO:0010478",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "categories": []
        },
        {
            "id": "MIM:300896",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300896",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TYL4-1",
            "uniprot_ac": "A0AB32TYL4",
            "uniprot_id": "A0AB32TYL4_DANRE",
            "refseq_ac": "XP_068079061",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-galactose translocator isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc35a2",
                    "type": "recommended"
                },
                {
                    "name": "si:bz30i22.3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-83k24.4",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-30i22.3",
                    "type": "synonym"
                },
                {
                    "name": "slc35a2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TYL4-1",
            "evidence": [
                {
                    "id": "0070265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0M8-1",
            "uniprot_ac": "Q9R0M8",
            "uniprot_id": "S35A2_MOUSE",
            "refseq_ac": "NP_001077406",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-galactose translocator",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 35 member A2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal-Tr",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose translocator isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose translocator",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose transporter",
                    "type": "synonym"
                },
                {
                    "name": "UGT",
                    "type": "synonym"
                },
                {
                    "name": "mUGT1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family (UDP-N-acetylglucosamine transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-galactose transporter) member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-galactose transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 member A2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35a2",
                    "type": "recommended"
                },
                {
                    "name": "Had-1",
                    "type": "synonym"
                },
                {
                    "name": "Had1",
                    "type": "synonym"
                },
                {
                    "name": "Sfc8",
                    "type": "synonym"
                },
                {
                    "name": "Slc35a2",
                    "type": "synonym"
                },
                {
                    "name": "UGT",
                    "type": "synonym"
                },
                {
                    "name": "Ugalt",
                    "type": "synonym"
                },
                {
                    "name": "Ugt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0M8-1",
            "evidence": [
                {
                    "id": "0070265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78381-1",
            "uniprot_ac": "P78381",
            "uniprot_id": "S35A2_HUMAN",
            "refseq_ac": "NP_001027460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-galactose translocator",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 35 member A2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal-Tr",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose translocator isoform b",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose translocator",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose transporter",
                    "type": "synonym"
                },
                {
                    "name": "UGT",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-galactose transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-galactose transporter), member A2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC35A2",
                    "type": "recommended"
                },
                {
                    "name": "CDG2M",
                    "type": "synonym"
                },
                {
                    "name": "CDGX",
                    "type": "synonym"
                },
                {
                    "name": "SLC35A2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal-Tr",
                    "type": "synonym"
                },
                {
                    "name": "UGALT",
                    "type": "synonym"
                },
                {
                    "name": "UGAT",
                    "type": "synonym"
                },
                {
                    "name": "UGT1",
                    "type": "synonym"
                },
                {
                    "name": "UGT2",
                    "type": "synonym"
                },
                {
                    "name": "UGTL",
                    "type": "synonym"
                },
                {
                    "name": "UGT",
                    "type": "synonym"
                }
            ],
            "record_id": "P78381-1",
            "evidence": [
                {
                    "id": "0010478",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010478"
                },
                {
                    "id": "300896",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300896"
                },
                {
                    "id": "SLC35A2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SLC35A2/#!details"
                },
                {
                    "id": "0070265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G5I8-1",
            "uniprot_ac": "A0A8I6G5I8",
            "uniprot_id": "A0A8I6G5I8_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": "Solute carrier family 35 member A2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35a2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6G5I8-1",
            "evidence": [
                {
                    "id": "0070265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76865-1",
            "uniprot_ac": "O76865",
            "uniprot_id": "O76865_DROME",
            "refseq_ac": "NP_001138149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2675-PB",
                    "type": "synonym"
                },
                {
                    "name": "D.melanogaster nucleotide sugar transporter",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal transporter",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose transporter, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Ugalt-PB",
                    "type": "synonym"
                },
                {
                    "name": "csat",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ugalt",
                    "type": "recommended"
                },
                {
                    "name": "CG2675",
                    "type": "synonym"
                },
                {
                    "name": "CSAT",
                    "type": "synonym"
                },
                {
                    "name": "Csat",
                    "type": "synonym"
                },
                {
                    "name": "DmNST",
                    "type": "synonym"
                },
                {
                    "name": "DmUGT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2675",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2675",
                    "type": "synonym"
                },
                {
                    "name": "EG:100G10.5",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal/UDP-GalNAc",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc",
                    "type": "synonym"
                },
                {
                    "name": "Ugalt",
                    "type": "synonym"
                },
                {
                    "name": "anon-3Bb",
                    "type": "synonym"
                },
                {
                    "name": "dNST-1",
                    "type": "synonym"
                },
                {
                    "name": "dNST-2",
                    "type": "synonym"
                },
                {
                    "name": "ugt",
                    "type": "synonym"
                }
            ],
            "record_id": "O76865-1",
            "evidence": [
                {
                    "id": "0070265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070265"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070265"
}