{
    "disease_id": "DOID:0080564",
    "recommended_name": {
        "id": "DOID:0080564",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080564",
        "name": "congenital disorder of glycosylation Il",
        "description": "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080564",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080564",
            "name": "congenital disorder of glycosylation 1l",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "ALG9-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)."
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "ALG9-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "ALG9-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "CDG syndrome type IL",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "CDG-IL",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "CDG1L",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "carbohydrate deficient glycoprotein syndrome type 1L",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "congenital disorder of glycosylation type 1L",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "mannosyltransferase 7-9 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "ALG9-CDG (CDG-IL)",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "CDG 1L",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "carbohydrate deficient glycoprotein syndrome type IL",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "congenital disorder of glycosylation type IL",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "congenital disorder of glycosylation, type IL",
            "description": ""
        },
        {
            "id": "MIM:608776",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608776",
            "name": "Congenital disorder of glycosylation 1L",
            "description": "Congenital disorder of glycosylation 1L"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080564"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080564",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080564",
            "categories": []
        },
        {
            "id": "MONDO:0012117",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "categories": []
        },
        {
            "id": "MIM:608776",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608776",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H6U8-1",
            "uniprot_ac": "Q9H6U8",
            "uniprot_id": "ALG9_HUMAN",
            "refseq_ac": "NP_001071158",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,2-mannosyltransferase ALG9",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.259",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.261",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 9 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Disrupted in bipolar disorder protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,2-mannosyltransferase ALG9 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,2-mannosyltransferase ALG9",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 9 alpha-12-mannosyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 9 homolog",
                    "type": "synonym"
                },
                {
                    "name": "disrupted in bipolar affective disorder 1",
                    "type": "synonym"
                },
                {
                    "name": "disrupted in bipolar disorder protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man dependent alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "loss of heterozygosity, 11, chromosomal region 1 gene J product",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG9",
                    "type": "recommended"
                },
                {
                    "name": "ALG9",
                    "type": "synonym"
                },
                {
                    "name": "CDG1L",
                    "type": "synonym"
                },
                {
                    "name": "DIBD1",
                    "type": "synonym"
                },
                {
                    "name": "GIKANIS",
                    "type": "synonym"
                },
                {
                    "name": "LOH11CR1J",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H6U8-1",
            "evidence": [
                {
                    "id": "79796",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/79796#disease"
                },
                {
                    "id": "0012117",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012117"
                },
                {
                    "id": "608776",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608776"
                },
                {
                    "id": "ALG9",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG9/#!details"
                },
                {
                    "id": "0080564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AZY9-1",
            "uniprot_ac": "A0A8M3AZY9",
            "uniprot_id": "A0A8M3AZY9_DANRE",
            "refseq_ac": "XP_009300116",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,2-mannosyltransferase ALG9 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alg9",
                    "type": "recommended"
                },
                {
                    "name": "alg9",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63820",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AZY9-1",
            "evidence": [
                {
                    "id": "0080564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDI9-1",
            "uniprot_ac": "Q8VDI9",
            "uniprot_id": "ALG9_MOUSE",
            "refseq_ac": "NP_598742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,2-mannosyltransferase ALG9",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.259",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.261",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,2-mannosyltransferase ALG9",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 9 protein",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 9 homolog",
                    "type": "synonym"
                },
                {
                    "name": "disrupted in bipolar disorder 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "disrupted in bipolar disorder protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg9",
                    "type": "recommended"
                },
                {
                    "name": "8230402H15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Alg9",
                    "type": "synonym"
                },
                {
                    "name": "B430313H07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dibd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDI9-1",
            "evidence": [
                {
                    "id": "0080564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53868-1",
            "uniprot_ac": "P53868",
            "uniprot_id": "ALG9_YEAST",
            "refseq_ac": "NP_014180",
            "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": "Alpha-1,2-mannosyltransferase ALG9",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.259",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.261",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG9",
                    "type": "recommended"
                },
                {
                    "name": "ALG9",
                    "type": "synonym"
                },
                {
                    "name": "N1295",
                    "type": "synonym"
                }
            ],
            "record_id": "P53868-1",
            "evidence": [
                {
                    "id": "0080564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LJG1-1",
            "uniprot_ac": "A0ABK0LJG1",
            "uniprot_id": "A0ABK0LJG1_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": "Mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg9",
                    "type": "recommended"
                },
                {
                    "name": "Fdxacb1",
                    "type": "recommended"
                },
                {
                    "name": "Alg9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LJG1-1",
            "evidence": [
                {
                    "id": "0080564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBV8-1",
            "uniprot_ac": "Q9VBV8",
            "uniprot_id": "ALG9_DROME",
            "refseq_ac": "NP_651353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,2-mannosyltransferase Alg9",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.259",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.261",
                    "type": "synonym"
                },
                {
                    "name": "ALG9, alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Alg9-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG11851-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man8GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg9",
                    "type": "recommended"
                },
                {
                    "name": "Alg9",
                    "type": "synonym"
                },
                {
                    "name": "CG11851",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11851",
                    "type": "synonym"
                },
                {
                    "name": "alg9",
                    "type": "synonym"
                },
                {
                    "name": "dAlg9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBV8-1",
            "evidence": [
                {
                    "id": "0080564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080564"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080564"
}