{
    "disease_id": "DOID:0080563",
    "recommended_name": {
        "id": "DOID:0080563",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080563",
        "name": "congenital disorder of glycosylation Ik",
        "description": "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080563",
            "name": "congenital disorder of glycosylation 1k",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "ALG1-congenital disorder of glycosylation",
            "description": "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)."
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "ALG1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "ALG1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "CDG syndrome type Ik",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "CDG-Ik",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "CDG1K",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "carbohydrate deficient glycoprotein syndrome type Ik",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "congenital disorder of glycosylation type 1k",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "congenital disorder of glycosylation type Ik",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "mannosyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "ALG1-CDG (CDG-Ik)",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "CDG 1K",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "congenital disorder of glycosylation, type Ik",
            "description": ""
        },
        {
            "id": "MIM:608540",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608540",
            "name": "Congenital disorder of glycosylation 1K",
            "description": "Congenital disorder of glycosylation 1K"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080563"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080563",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080563",
            "categories": []
        },
        {
            "id": "MONDO:0012052",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "categories": []
        },
        {
            "id": "MIM:608540",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608540",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BT22-1",
            "uniprot_ac": "Q9BT22",
            "uniprot_id": "ALG1_HUMAN",
            "refseq_ac": "NP_001317433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.142",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "MT-1",
                    "type": "synonym"
                },
                {
                    "name": "Mannosyltransferase-1",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "hMat-1",
                    "type": "synonym"
                },
                {
                    "name": "mannosyltransferase-1",
                    "type": "synonym"
                },
                {
                    "name": "mutant ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG1",
                    "type": "recommended"
                },
                {
                    "name": "ALG1",
                    "type": "synonym"
                },
                {
                    "name": "CDG1K",
                    "type": "synonym"
                },
                {
                    "name": "HMAT1",
                    "type": "synonym"
                },
                {
                    "name": "HMT-1",
                    "type": "synonym"
                },
                {
                    "name": "HMT1",
                    "type": "synonym"
                },
                {
                    "name": "MT-1",
                    "type": "synonym"
                },
                {
                    "name": "Mat-1",
                    "type": "synonym"
                },
                {
                    "name": "PRO1870",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0061",
                    "type": "synonym"
                },
                {
                    "name": "hMat-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BT22-1",
            "evidence": [
                {
                    "id": "56052",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/56052#disease"
                },
                {
                    "id": "0012052",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012052"
                },
                {
                    "id": "608540",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608540"
                },
                {
                    "id": "ALG1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG1/#!details"
                },
                {
                    "id": "0080563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921Q3-1",
            "uniprot_ac": "Q921Q3",
            "uniprot_id": "ALG1_MOUSE",
            "refseq_ac": "NP_663337",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.142",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 1 (beta-1,4-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4 mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg1",
                    "type": "recommended"
                },
                {
                    "name": "Alg1",
                    "type": "synonym"
                },
                {
                    "name": "HMAT1",
                    "type": "synonym"
                },
                {
                    "name": "HMT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921Q3-1",
            "evidence": [
                {
                    "id": "0080563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16661-1",
            "uniprot_ac": "P16661",
            "uniprot_id": "ALG1_YEAST",
            "refseq_ac": "NP_009668",
            "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": "Chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.142",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "chitobiosyldiphosphodolichol beta-1,4 mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG1",
                    "type": "recommended"
                },
                {
                    "name": "ALG1",
                    "type": "synonym"
                },
                {
                    "name": "YBR0906",
                    "type": "synonym"
                }
            ],
            "record_id": "P16661-1",
            "evidence": [
                {
                    "id": "0080563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A5S6-1",
            "uniprot_ac": "D4A5S6",
            "uniprot_id": "D4A5S6_RAT",
            "refseq_ac": "NP_001101734",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.142",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg1",
                    "type": "recommended"
                },
                {
                    "name": "Alg1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A5S6-1",
            "evidence": [
                {
                    "id": "0080563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEE9-1",
            "uniprot_ac": "Q9VEE9",
            "uniprot_id": "Q9VEE9_DROME",
            "refseq_ac": "NP_650662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.142",
                    "type": "synonym"
                },
                {
                    "name": "ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Alg1-PA",
                    "type": "synonym"
                },
                {
                    "name": "B-1,4-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG18012-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg1",
                    "type": "recommended"
                },
                {
                    "name": "Alg1",
                    "type": "synonym"
                },
                {
                    "name": "CG18012",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18012",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18012",
                    "type": "synonym"
                },
                {
                    "name": "dAlg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEE9-1",
            "evidence": [
                {
                    "id": "0080563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "C9J202-1",
            "uniprot_ac": "C9J202",
            "uniprot_id": "AG1L2_HUMAN",
            "refseq_ac": "NP_001129624",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative glycosyltransferase ALG1L2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 1-like 2",
                    "type": "synonym"
                },
                {
                    "name": "putative glycosyltransferase ALG1L2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG1L2",
                    "type": "recommended"
                },
                {
                    "name": "ALG1L2",
                    "type": "synonym"
                }
            ],
            "record_id": "C9J202-1",
            "evidence": [
                {
                    "id": "0080563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080563"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080563"
}