{
    "disease_id": "DOID:0080556",
    "recommended_name": {
        "id": "DOID:0080556",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080556",
        "name": "congenital disorder of glycosylation Id",
        "description": "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "DOID:0080556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080556",
            "name": "congenital disorder of glycosylation 1d",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "ALG3-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)."
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "ALG3-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "ALG3-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDG syndrome type Id",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDG-Id",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDG1D",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDGId",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "carbohydrate deficient glycoprotein syndrome type Id",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "congenital disorder of glycosylation type 1d",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "congenital disorder of glycosylation type Id",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "mannosyltransferase 6 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "ALG3-CDG (CDG-Id)",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDG 1D",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDGS4 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "carbohydrate-deficient glycoprotein syndrome type IV (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "congenital disorder of glycosylation, type Id",
            "description": ""
        },
        {
            "id": "MIM:601110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601110",
            "name": "Congenital disorder of glycosylation 1D",
            "description": "Congenital disorder of glycosylation 1D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080556"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080556",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080556",
            "categories": []
        },
        {
            "id": "MONDO:0010998",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "categories": []
        },
        {
            "id": "MIM:601110",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601110",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q92685-1",
            "uniprot_ac": "Q92685",
            "uniprot_id": "ALG3_HUMAN",
            "refseq_ac": "NP_001006942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.258",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man-dependent alpha(1-3)-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Not56-like protein",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate deficient glycoprotein syndrome type IV",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man-dependent alpha(1-3)-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG3",
                    "type": "recommended"
                },
                {
                    "name": "ALG3",
                    "type": "synonym"
                },
                {
                    "name": "CDG1D",
                    "type": "synonym"
                },
                {
                    "name": "CDGS4",
                    "type": "synonym"
                },
                {
                    "name": "CDGS6",
                    "type": "synonym"
                },
                {
                    "name": "D16Ertd36e",
                    "type": "synonym"
                },
                {
                    "name": "NOT56L",
                    "type": "synonym"
                },
                {
                    "name": "NOT",
                    "type": "synonym"
                },
                {
                    "name": "Not56",
                    "type": "synonym"
                },
                {
                    "name": "not",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92685-1",
            "evidence": [
                {
                    "id": "10195",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/10195#disease"
                },
                {
                    "id": "0010998",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010998"
                },
                {
                    "id": "601110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601110"
                },
                {
                    "id": "ALG3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG3/#!details"
                },
                {
                    "id": "0080556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TWS8-1",
            "uniprot_ac": "A0AB32TWS8",
            "uniprot_id": "A0AB32TWS8_DANRE",
            "refseq_ac": "XP_068080239",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.258",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man-dependent alpha(1-3)-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alg3",
                    "type": "recommended"
                },
                {
                    "name": "alg3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112396",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TWS8-1",
            "evidence": [
                {
                    "id": "0080556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K2A8-1",
            "uniprot_ac": "Q8K2A8",
            "uniprot_id": "ALG3_MOUSE",
            "refseq_ac": "NP_666051",
            "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(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.258",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man-dependent alpha(1-3)-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,3-mannosyltransferase ALG3",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 3 (alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man-dependent alpha(1-3)-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "not56-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg3",
                    "type": "recommended"
                },
                {
                    "name": "Alg3",
                    "type": "synonym"
                },
                {
                    "name": "D16Ertd36e",
                    "type": "synonym"
                },
                {
                    "name": "not",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K2A8-1",
            "evidence": [
                {
                    "id": "0080556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38179-1",
            "uniprot_ac": "P38179",
            "uniprot_id": "ALG3_YEAST",
            "refseq_ac": "NP_009471",
            "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(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.258",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man-dependent alpha(1-3)-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "HM-1 killer toxin resistance protein",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichol alpha-1,3-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG3",
                    "type": "recommended"
                },
                {
                    "name": "ALG3",
                    "type": "synonym"
                },
                {
                    "name": "RHK1",
                    "type": "synonym"
                },
                {
                    "name": "YBL0720",
                    "type": "synonym"
                }
            ],
            "record_id": "P38179-1",
            "evidence": [
                {
                    "id": "0080556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M8K7-1",
            "uniprot_ac": "F1M8K7",
            "uniprot_id": "F1M8K7_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": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.258",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Man-dependent alpha(1-3)-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg3",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M8K7-1",
            "evidence": [
                {
                    "id": "0080556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27333-1",
            "uniprot_ac": "Q27333",
            "uniprot_id": "ALG3_DROME",
            "refseq_ac": "NP_523829",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-P-Man:Man5GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase Alg3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.258",
                    "type": "synonym"
                },
                {
                    "name": "ALG3, alpha-1,3- mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Alg3-PA",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1,3-mannosyltransferase Alg3",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-Linked Glycosylation-3",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG4084-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lethal(2)neighbor of tid protein",
                    "type": "synonym"
                },
                {
                    "name": "Lethal(2)tumorous imaginal discs",
                    "type": "synonym"
                },
                {
                    "name": "NOT45",
                    "type": "synonym"
                },
                {
                    "name": "NOT56",
                    "type": "synonym"
                },
                {
                    "name": "alpha1,3-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "l(2)tumorous disc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)tumorous imaginal discs",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) neighbor of tid",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2) neighbour of 1(2)tid",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2) tumorous imaginal discs",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)neighbour of tid",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)tumorous imaginal discs",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg3",
                    "type": "recommended"
                },
                {
                    "name": "1(2) not",
                    "type": "synonym"
                },
                {
                    "name": "ALG3",
                    "type": "synonym"
                },
                {
                    "name": "Alg3",
                    "type": "synonym"
                },
                {
                    "name": "CG4084",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4084",
                    "type": "synonym"
                },
                {
                    "name": "L(2)NOT",
                    "type": "synonym"
                },
                {
                    "name": "NOT",
                    "type": "synonym"
                },
                {
                    "name": "alg3",
                    "type": "synonym"
                },
                {
                    "name": "cDNA 10F",
                    "type": "synonym"
                },
                {
                    "name": "dAlg3",
                    "type": "synonym"
                },
                {
                    "name": "l(2)not",
                    "type": "synonym"
                },
                {
                    "name": "l(2)td",
                    "type": "synonym"
                },
                {
                    "name": "l(2)tid",
                    "type": "synonym"
                },
                {
                    "name": "l(2)tud",
                    "type": "synonym"
                },
                {
                    "name": "ntid",
                    "type": "synonym"
                },
                {
                    "name": "tid",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27333-1",
            "evidence": [
                {
                    "id": "0080556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080556"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080556"
}