{
    "disease_id": "DOID:0080561",
    "recommended_name": {
        "id": "DOID:0080561",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080561",
        "name": "congenital disorder of glycosylation Ii",
        "description": "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080561",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080561",
            "name": "congenital disorder of glycosylation 1i",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "ALG2-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive."
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "ALG2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "ALG2-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "CDG 1I",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "CDG Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "CDG syndrome type Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "CDG1I",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "carbohydrate deficient glycoprotein syndrome type Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "congenital disorder of glycosylation type 1i",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "congenital disorder of glycosylation type Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "congenital disorder of glycosylation, type Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "mannosyltransferase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "ALG2-CDG (CDG-II)",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1I",
            "description": ""
        },
        {
            "id": "MIM:607906",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607906",
            "name": "Congenital disorder of glycosylation 1I",
            "description": "Congenital disorder of glycosylation 1I"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080561"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080561",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080561",
            "categories": []
        },
        {
            "id": "MONDO:0011933",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "categories": []
        },
        {
            "id": "MIM:607906",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607906",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H553-1",
            "uniprot_ac": "Q9H553",
            "uniprot_id": "ALG2_HUMAN",
            "refseq_ac": "NP_149078",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,3/1,6-mannosyltransferase ALG2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.132",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.257",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3-mannosyltransferase ALG2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3/1,6-mannosyltransferase ALG2",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast ALG2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG2",
                    "type": "recommended"
                },
                {
                    "name": "ALG2",
                    "type": "synonym"
                },
                {
                    "name": "CDG1I",
                    "type": "synonym"
                },
                {
                    "name": "CDGIi",
                    "type": "synonym"
                },
                {
                    "name": "CMS14",
                    "type": "synonym"
                },
                {
                    "name": "CMSTA3",
                    "type": "synonym"
                },
                {
                    "name": "NET38",
                    "type": "synonym"
                },
                {
                    "name": "PRO1298",
                    "type": "synonym"
                },
                {
                    "name": "hALPG2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H553-1",
            "evidence": [
                {
                    "id": "85365",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/85365#disease"
                },
                {
                    "id": "0011933",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011933"
                },
                {
                    "id": "607906",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607906"
                },
                {
                    "id": "0080561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NFU6-1",
            "uniprot_ac": "A0A8M1NFU6",
            "uniprot_id": "A0A8M1NFU6_DANRE",
            "refseq_ac": "NP_001098406",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,3/1,6-mannosyltransferase ALG2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.132",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.257",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3/1,6-mannosyltransferase ALG2",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2 (alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alg2",
                    "type": "recommended"
                },
                {
                    "name": "alg2",
                    "type": "synonym"
                },
                {
                    "name": "im:7145131",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NFU6-1",
            "evidence": [
                {
                    "id": "0080561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBE8-1",
            "uniprot_ac": "Q9DBE8",
            "uniprot_id": "ALG2_MOUSE",
            "refseq_ac": "NP_064382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,3/1,6-mannosyltransferase ALG2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.132",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.257",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3-mannosyltransferase ALG2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3/1,6-mannosyltransferase ALG2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3/1,6-mannosyltransferase ALG2",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2 (alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg2",
                    "type": "recommended"
                },
                {
                    "name": "1110018A23Rik",
                    "type": "synonym"
                },
                {
                    "name": "1300013N08Rik",
                    "type": "synonym"
                },
                {
                    "name": "ALPG2",
                    "type": "synonym"
                },
                {
                    "name": "Alg2",
                    "type": "synonym"
                },
                {
                    "name": "CDGIi",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-5081",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBE8-1",
            "evidence": [
                {
                    "id": "0080561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43636-1",
            "uniprot_ac": "P43636",
            "uniprot_id": "ALG2_YEAST",
            "refseq_ac": "NP_011450",
            "glycoprotein": "yes",
            "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-1,3/1,6-mannosyltransferase ALG2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.132",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.257",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-dolichol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG2",
                    "type": "recommended"
                },
                {
                    "name": "ALG2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43636-1",
            "evidence": [
                {
                    "id": "0080561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6U3-1",
            "uniprot_ac": "G3V6U3",
            "uniprot_id": "G3V6U3_RAT",
            "refseq_ac": "NP_001094180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,3/1,6-mannosyltransferase ALG2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.132",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.257",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3-mannosyltransferase ALG2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3/1,6-mannosyltransferase ALG2",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg2",
                    "type": "recommended"
                },
                {
                    "name": "Alg2",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6U3-1",
            "evidence": [
                {
                    "id": "0080561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZU8-1",
            "uniprot_ac": "Q9VZU8",
            "uniprot_id": "Q9VZU8_DROME",
            "refseq_ac": "NP_647772",
            "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-1,3/1,6-mannosyltransferase ALG2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.132",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.257",
                    "type": "synonym"
                },
                {
                    "name": "A-1,3/A-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ALG2, alpha-1,3/1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Alg2-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG1291-PA",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg2",
                    "type": "recommended"
                },
                {
                    "name": "Alg2",
                    "type": "synonym"
                },
                {
                    "name": "CG1291",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1291",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1291",
                    "type": "synonym"
                },
                {
                    "name": "dAlg2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZU8-1",
            "evidence": [
                {
                    "id": "0080561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080561"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080561"
}