{
    "disease_id": "DOID:0080559",
    "recommended_name": {
        "id": "DOID:0080559",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080559",
        "name": "congenital disorder of glycosylation Ig",
        "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080559",
            "name": "ALG12-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "DOID:0080559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080559",
            "name": "congenital disorder of glycosylation 1g",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "ALG12-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)."
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "ALG12-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "ALG12-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "CDG syndrome type Ig",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "CDG-Ig",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "CDG1G",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "CDGIg",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "carbohydrate deficient glycoprotein syndrome type Ig",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "congenital disorder of glycosylation type 1g",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "congenital disorder of glycosylation type Ig",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "mannosyltransferase 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "ALG12-CDG (CDG-Ig)",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "CDG 1G",
            "description": ""
        },
        {
            "id": "MONDO:0011783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "name": "congenital disorder of glycosylation, type Ig",
            "description": ""
        },
        {
            "id": "MIM:607143",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607143",
            "name": "Congenital disorder of glycosylation 1G",
            "description": "Congenital disorder of glycosylation 1G"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080559"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080559",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080559",
            "categories": []
        },
        {
            "id": "MONDO:0011783",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011783",
            "categories": []
        },
        {
            "id": "MIM:607143",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607143",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BV10-1",
            "uniprot_ac": "Q9BV10",
            "uniprot_id": "ALG12_HUMAN",
            "refseq_ac": "NP_077010",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.260",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosyltransferase ALG12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Membrane protein SB87",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man dependent alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1, 6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6- mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "hALG12",
                    "type": "synonym"
                },
                {
                    "name": "mannosyltransferase ALG12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein SB87",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG12",
                    "type": "recommended"
                },
                {
                    "name": "ALG12",
                    "type": "synonym"
                },
                {
                    "name": "CDG1G",
                    "type": "synonym"
                },
                {
                    "name": "ECM39",
                    "type": "synonym"
                },
                {
                    "name": "PP14673",
                    "type": "synonym"
                },
                {
                    "name": "hALG12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BV10-1",
            "evidence": [
                {
                    "id": "79087",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/79087#disease"
                },
                {
                    "id": "0011783",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011783"
                },
                {
                    "id": "607143",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607143"
                },
                {
                    "id": "ALG12",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG12/#!details"
                },
                {
                    "id": "0080559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDB2-1",
            "uniprot_ac": "Q8VDB2",
            "uniprot_id": "ALG12_MOUSE",
            "refseq_ac": "NP_001135829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.260",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosyltransferase ALG12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1, 6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mannosyltransferase ALG12 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg12",
                    "type": "recommended"
                },
                {
                    "name": "Alg12",
                    "type": "synonym"
                },
                {
                    "name": "ECM39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDB2-1",
            "evidence": [
                {
                    "id": "0080559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53730-1",
            "uniprot_ac": "P53730",
            "uniprot_id": "ALG12_YEAST",
            "refseq_ac": "NP_014427",
            "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": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.260",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 12",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular mutant protein 39",
                    "type": "synonym"
                },
                {
                    "name": "Mannosyltransferase ALG12",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG12",
                    "type": "recommended"
                },
                {
                    "name": "ALG12",
                    "type": "synonym"
                },
                {
                    "name": "ECM39",
                    "type": "synonym"
                },
                {
                    "name": "N3265",
                    "type": "synonym"
                }
            ],
            "record_id": "P53730-1",
            "evidence": [
                {
                    "id": "0080559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH78-1",
            "uniprot_ac": "Q9VH78",
            "uniprot_id": "ALG12_DROME",
            "refseq_ac": "NP_649939",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.260",
                    "type": "synonym"
                },
                {
                    "name": "Alg12 alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Alg12-PA",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG8412-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosyltransferase ALG12 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg12",
                    "type": "recommended"
                },
                {
                    "name": "Alg12",
                    "type": "synonym"
                },
                {
                    "name": "CG8412",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8412",
                    "type": "synonym"
                },
                {
                    "name": "dAlg12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH78-1",
            "evidence": [
                {
                    "id": "0080559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080559"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080559"
}