{
    "disease_id": "DOID:0080567",
    "recommended_name": {
        "id": "DOID:0080567",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080567",
        "name": "congenital disorder of glycosylation Ip",
        "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080567",
            "name": "congenital disorder of glycosylation 1p",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "ALG11-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)."
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "ALG11-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "ALG11-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "CDG syndrome type Ip",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "CDG-Ip",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "CDG1P",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "carbohydrate deficient glycoprotein syndrome type Ip",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "congenital disorder of glycosylation type 1p",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "congenital disorder of glycosylation type Ip",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "ALG11-CDG (CDG-Ip)",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "congenital disorder of glycosylation, type Ip",
            "description": ""
        },
        {
            "id": "MIM:613661",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613661",
            "name": "Congenital disorder of glycosylation 1P",
            "description": "Congenital disorder of glycosylation 1P"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080567"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080567",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080567",
            "categories": []
        },
        {
            "id": "MONDO:0013349",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "categories": []
        },
        {
            "id": "MIM:613661",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613661",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2TAA5-1",
            "uniprot_ac": "Q2TAA5",
            "uniprot_id": "ALG11_HUMAN",
            "refseq_ac": "NP_001004127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.131",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glycolipid 2-alpha-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "glycolipid 2-alpha-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG11",
                    "type": "recommended"
                },
                {
                    "name": "ALG11",
                    "type": "synonym"
                },
                {
                    "name": "CDG1P",
                    "type": "synonym"
                },
                {
                    "name": "GT8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2TAA5-1",
            "evidence": [
                {
                    "id": "440138",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/440138#disease"
                },
                {
                    "id": "0013349",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013349"
                },
                {
                    "id": "613661",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613661"
                },
                {
                    "id": "ALG11",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG11/#!details"
                },
                {
                    "id": "0080567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7ZW24-1",
            "uniprot_ac": "Q7ZW24",
            "uniprot_id": "ALG11_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.131",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Glycolipid 2-alpha-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alg11",
                    "type": "recommended"
                },
                {
                    "name": "fj04e04",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-1h24.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj04e04",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZW24-1",
            "evidence": [
                {
                    "id": "0080567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TZM9-1",
            "uniprot_ac": "Q3TZM9",
            "uniprot_id": "ALG11_MOUSE",
            "refseq_ac": "NP_001230090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.131",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glycolipid 2-alpha-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 11 (alpha-1,2-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 11 homolog (yeast, alpha-1,2-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "defective mannosyltransferase IV(V)",
                    "type": "synonym"
                },
                {
                    "name": "glycolipid 2-alpha-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mannosyltransferase IV(V)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg11",
                    "type": "recommended"
                },
                {
                    "name": "Alg11",
                    "type": "synonym"
                },
                {
                    "name": "B230397C21",
                    "type": "synonym"
                },
                {
                    "name": "Mmat-4(5)",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TZM9-1",
            "evidence": [
                {
                    "id": "0080567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53954-1",
            "uniprot_ac": "P53954",
            "uniprot_id": "ALG11_YEAST",
            "refseq_ac": "NP_014350",
            "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": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.131",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1,2-mannosyltransferase ALG11",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Glycolipid 2-alpha-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,2-mannosyltransferase ALG11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG11",
                    "type": "recommended"
                },
                {
                    "name": "ALG11",
                    "type": "synonym"
                },
                {
                    "name": "N2510",
                    "type": "synonym"
                },
                {
                    "name": "YNL2510W",
                    "type": "synonym"
                }
            ],
            "record_id": "P53954-1",
            "evidence": [
                {
                    "id": "0080567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCQ2-1",
            "uniprot_ac": "D3ZCQ2",
            "uniprot_id": "D3ZCQ2_RAT",
            "refseq_ac": "NP_001101871",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.131",
                    "type": "synonym"
                },
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 11 homolog (yeast, alpha-1,2-mannosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 11 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg11",
                    "type": "recommended"
                },
                {
                    "name": "Alg11",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564725",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCQ2-1",
            "evidence": [
                {
                    "id": "0080567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VP06-1",
            "uniprot_ac": "Q9VP06",
            "uniprot_id": "Q9VP06_DROME",
            "refseq_ac": "NP_001262182",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.131",
                    "type": "synonym"
                },
                {
                    "name": "A-1,2-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ALG11, alpha-1,2-mannosyltransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Alg11-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG11306-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg11",
                    "type": "recommended"
                },
                {
                    "name": "Alg11",
                    "type": "synonym"
                },
                {
                    "name": "CG11306",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11306",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11306",
                    "type": "synonym"
                },
                {
                    "name": "dAlg11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VP06-1",
            "evidence": [
                {
                    "id": "0080567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080567"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080567"
}