{
    "disease_id": "DOID:0080470",
    "recommended_name": {
        "id": "DOID:0080470",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080470",
        "name": "developmental and epileptic encephalopathy 36",
        "description": "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23."
    },
    "synonyms": [
        {
            "id": "DOID:0080470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080470",
            "name": "congenital disorder of glycosylation, type Is",
            "description": ""
        },
        {
            "id": "DOID:0080470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080470",
            "name": "early infantile epileptic encephalopathy 36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "developmental and epileptic encephalopathy, 36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "ALG13-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "CDG syndrome type Is",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "CDG-Is",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "CDG1S",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "DEE36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "EIEE36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "congenital disorder of glycosylation type 1s",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "congenital disorder of glycosylation type Is",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "developmental and epileptic encephalopathy 36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "epileptic encephalopathy, early infantile, 36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "congenital disorder of glycosylation, type Is",
            "description": ""
        },
        {
            "id": "MIM:300884",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300884",
            "name": "Developmental and epileptic encephalopathy 36",
            "description": "Developmental and epileptic encephalopathy 36"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080470"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080470",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080470",
            "categories": []
        },
        {
            "id": "MONDO:0010472",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "categories": []
        },
        {
            "id": "MIM:300884",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300884",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9NP73-1",
            "uniprot_ac": "Q9NP73",
            "uniprot_id": "ALG13_HUMAN",
            "refseq_ac": "NP_001034299",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.141",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Glycosyltransferase 28 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase 28 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic stem/progenitor cells protein MDS031",
                    "type": "synonym"
                },
                {
                    "name": "putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain containing 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG13",
                    "type": "recommended"
                },
                {
                    "name": "ALG13",
                    "type": "synonym"
                },
                {
                    "name": "CDG1S",
                    "type": "synonym"
                },
                {
                    "name": "CXorf45",
                    "type": "synonym"
                },
                {
                    "name": "DEE36",
                    "type": "synonym"
                },
                {
                    "name": "EIEE36",
                    "type": "synonym"
                },
                {
                    "name": "GLT28D1",
                    "type": "synonym"
                },
                {
                    "name": "MDS031",
                    "type": "synonym"
                },
                {
                    "name": "TDRD13",
                    "type": "synonym"
                },
                {
                    "name": "YGL047W",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NP73-1",
            "evidence": [
                {
                    "id": "79868",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/79868#disease"
                },
                {
                    "id": "0010472",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010472"
                },
                {
                    "id": "300884",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300884"
                },
                {
                    "id": "0080470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58I980-1",
            "uniprot_ac": "A0AC58I980",
            "uniprot_id": "A0AC58I980_DANRE",
            "refseq_ac": "XP_073790788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.141",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit alg13",
                    "type": "synonym"
                },
                {
                    "name": "putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alg13",
                    "type": "recommended"
                },
                {
                    "name": "alg13",
                    "type": "synonym"
                },
                {
                    "name": "otul",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I980-1",
            "evidence": [
                {
                    "id": "0080470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D8C3-1",
            "uniprot_ac": "Q9D8C3",
            "uniprot_id": "ALG13_MOUSE",
            "refseq_ac": "NP_080523",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13",
                    "type": "recommended"
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                {
                    "name": "2.4.1.141",
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                {
                    "name": "Asparagine-linked glycosylation 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase 28 domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase 28 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg13",
                    "type": "recommended"
                },
                {
                    "name": "2810046O15Rik",
                    "type": "synonym"
                },
                {
                    "name": "4833435D08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Alg13",
                    "type": "synonym"
                },
                {
                    "name": "Glt28d1",
                    "type": "synonym"
                },
                {
                    "name": "MDS031",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D8C3-1",
            "evidence": [
                {
                    "id": "0080470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53178-1",
            "uniprot_ac": "P53178",
            "uniprot_id": "ALG13_YEAST",
            "refseq_ac": "NP_011468",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.141",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 13",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase catalytic subunit ALG13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG13",
                    "type": "recommended"
                },
                {
                    "name": "ALG13",
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                }
            ],
            "record_id": "P53178-1",
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                    "id": "0080470",
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        },
        {
            "uniprot_canonical_ac": "Q5I0K7-1",
            "uniprot_ac": "Q5I0K7",
            "uniprot_id": "ALG13_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13",
                    "type": "recommended"
                },
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                    "name": "2.4.1.141",
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                {
                    "name": "Asparagine-linked glycosylation 13 homolog",
                    "type": "synonym"
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            ],
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                    "name": "Alg13",
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                    "id": "0080470",
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            ]
        },
        {
            "uniprot_canonical_ac": "P10383-1",
            "uniprot_ac": "P10383",
            "uniprot_id": "OTU_DROME",
            "refseq_ac": "NP_001259332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deubiquitinase otu",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.-",
                    "type": "synonym"
                },
                {
                    "name": "CG12743-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein ovarian tumor",
                    "type": "synonym"
                },
                {
                    "name": "otu-PD",
                    "type": "synonym"
                },
                {
                    "name": "ovarian tumor, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "ovarian tumor",
                    "type": "synonym"
                },
                {
                    "name": "ovarian tumour",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "otu",
                    "type": "recommended"
                },
                {
                    "name": "CG12743",
                    "type": "synonym"
                },
                {
                    "name": "DROOTUA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12743",
                    "type": "synonym"
                },
                {
                    "name": "K",
                    "type": "synonym"
                },
                {
                    "name": "OTU",
                    "type": "synonym"
                },
                {
                    "name": "Otu",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)231",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)23l",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)M101",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)jA265",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)otu",
                    "type": "synonym"
                },
                {
                    "name": "otu",
                    "type": "synonym"
                }
            ],
            "record_id": "P10383-1",
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                {
                    "id": "0080470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAP1-1",
            "uniprot_ac": "Q9VAP1",
            "uniprot_id": "Q9VAP1_DROME",
            "refseq_ac": "NP_651673",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG13",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.141",
                    "type": "synonym"
                },
                {
                    "name": "Alg13 UDP-N-acetylglucosaminyltransferase subunit",
                    "type": "synonym"
                },
                {
                    "name": "Alg13-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG14512-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg13",
                    "type": "recommended"
                },
                {
                    "name": "Alg13",
                    "type": "synonym"
                },
                {
                    "name": "CG14512",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG14512",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG14512",
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                },
                {
                    "name": "dAlg13",
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                }
            ],
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                {
                    "id": "0080470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080470"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080470"
}