{
    "disease_id": "DOID:0080571",
    "recommended_name": {
        "id": "DOID:0080571",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080571",
        "name": "congenital disorder of glycosylation Iu",
        "description": "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0080571",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080571",
            "name": "congenital disorder of glycosylation 1u",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital muscular dystrophy with intellectual disability and severe epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CDG syndrome type Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CDG-Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CDG1U",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CMD with intellectual disability and severe epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "DPM2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "carbohydrate deficient glycoprotein syndrome type Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital disorder of glycosylation type 1u",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital disorder of glycosylation type Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital disorder of glycosylation, type Iu",
            "description": ""
        },
        {
            "id": "MIM:615042",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615042",
            "name": "Congenital disorder of glycosylation 1U",
            "description": "Congenital disorder of glycosylation 1U"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080571"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080571",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080571",
            "categories": []
        },
        {
            "id": "MONDO:0014023",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "categories": []
        },
        {
            "id": "MIM:615042",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615042",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z324-1",
            "uniprot_ac": "Q9Z324",
            "uniprot_id": "DPM2_MOUSE",
            "refseq_ac": "NP_034203",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "recommended"
                },
                {
                    "name": "DPM synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate (beta-D) mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpm2",
                    "type": "recommended"
                },
                {
                    "name": "Dpm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z324-1",
            "evidence": [
                {
                    "id": "0080571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKY4-1",
            "uniprot_ac": "Q9UKY4",
            "uniprot_id": "POMT2_HUMAN",
            "refseq_ac": "NP_037514",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMT2",
                    "type": "recommended"
                },
                {
                    "name": "LGMD2N",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR14",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA2",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB2",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC2",
                    "type": "synonym"
                },
                {
                    "name": "POMT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKY4-1",
            "evidence": [
                {
                    "id": "0014023",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6A1-1",
            "uniprot_ac": "Q9Y6A1",
            "uniprot_id": "POMT1_HUMAN",
            "refseq_ac": "NP_001070833",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 57p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMT1",
                    "type": "recommended"
                },
                {
                    "name": "LGMD2K",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR11",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA1",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB1",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC1",
                    "type": "synonym"
                },
                {
                    "name": "POMT1",
                    "type": "synonym"
                },
                {
                    "name": "RT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6A1-1",
            "evidence": [
                {
                    "id": "0014023",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94777-1",
            "uniprot_ac": "O94777",
            "uniprot_id": "DPM2_HUMAN",
            "refseq_ac": "NP_003854",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "recommended"
                },
                {
                    "name": "DPM synthase complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "DPM synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol phosphate-mannose biosynthesis regulatory protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPM2",
                    "type": "recommended"
                },
                {
                    "name": "CDG1U",
                    "type": "synonym"
                },
                {
                    "name": "DPM2",
                    "type": "synonym"
                },
                {
                    "name": "My026",
                    "type": "synonym"
                }
            ],
            "record_id": "O94777-1",
            "evidence": [
                {
                    "id": "0014023",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014023"
                },
                {
                    "id": "615042",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615042"
                },
                {
                    "id": "DPM2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DPM2/#!details"
                },
                {
                    "id": "0080571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WZA1-1",
            "uniprot_ac": "Q8WZA1",
            "uniprot_id": "PMGT1_HUMAN",
            "refseq_ac": "NP_001230695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GnT I.2",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMGNT1",
                    "type": "recommended"
                },
                {
                    "name": "GNTI.2",
                    "type": "synonym"
                },
                {
                    "name": "GnT I.2",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2O",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR15",
                    "type": "synonym"
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                {
                    "name": "MEB",
                    "type": "synonym"
                },
                {
                    "name": "MGAT1.2",
                    "type": "synonym"
                },
                {
                    "name": "POMGNT1",
                    "type": "synonym"
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                {
                    "name": "PRO1475",
                    "type": "synonym"
                },
                {
                    "name": "RP76",
                    "type": "synonym"
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                {
                    "name": "gnT-I.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WZA1-1",
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                {
                    "id": "0014023",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z325-1",
            "uniprot_ac": "Q9Z325",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "recommended"
                },
                {
                    "name": "DPM synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate (beta-D) mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpm2",
                    "type": "recommended"
                },
                {
                    "name": "Pip5kl1",
                    "type": "recommended"
                },
                {
                    "name": "Dpm2",
                    "type": "synonym"
                },
                {
                    "name": "Pip5kl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z325-1",
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                {
                    "id": "0080571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01230-1",
            "uniprot_ac": "P01230",
            "uniprot_id": "LSHB_RAT",
            "refseq_ac": "NP_001029147",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lutropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "LH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone (lutropin) subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Lutropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "lutropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "lutropin subunit beta isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhb",
                    "type": "recommended"
                },
                {
                    "name": "Lhb",
                    "type": "synonym"
                }
            ],
            "record_id": "P01230-1",
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                    "id": "0080571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIA5-1",
            "uniprot_ac": "E1JIA5",
            "uniprot_id": "E1JIA5_DROME",
            "refseq_ac": "NP_001163338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "recommended"
                },
                {
                    "name": "CG42456-PA",
                    "type": "synonym"
                },
                {
                    "name": "CPuORF of FBgn0035436",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate mannosyltransferase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Dpm2-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpm2",
                    "type": "recommended"
                },
                {
                    "name": "CG42456",
                    "type": "synonym"
                },
                {
                    "name": "DPM2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42456",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42456",
                    "type": "synonym"
                },
                {
                    "name": "Dpm2",
                    "type": "synonym"
                },
                {
                    "name": "Dromel_CG12016_FBtr0073063_uORF",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0259933",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIA5-1",
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                {
                    "id": "0080571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35222-1",
            "uniprot_ac": "P35222",
            "uniprot_id": "CTNB1_HUMAN",
            "refseq_ac": "NP_001091679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin-associated protein), beta 1, 88kDa",
                    "type": "synonym"
                },
                {
                    "name": "catenin beta-1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTNNB1",
                    "type": "recommended"
                },
                {
                    "name": "CTNNB1",
                    "type": "synonym"
                },
                {
                    "name": "CTNNB",
                    "type": "synonym"
                },
                {
                    "name": "EVR7",
                    "type": "synonym"
                },
                {
                    "name": "MRD19",
                    "type": "synonym"
                },
                {
                    "name": "NEDSDV",
                    "type": "synonym"
                },
                {
                    "name": "PRO2286",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.35",
                    "type": "synonym"
                },
                {
                    "name": "armadillo",
                    "type": "synonym"
                }
            ],
            "record_id": "P35222-1",
            "evidence": [
                {
                    "id": "0080571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080571"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080571"
}