{
    "disease_id": "DOID:0111953",
    "recommended_name": {
        "id": "DOID:0111953",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111953",
        "name": "immunodeficiency 23",
        "description": "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "CID due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "IMD23",
            "description": ""
        },
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "PGM3-CDG",
            "description": ""
        },
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "PGM3-related congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "combined immunodeficiency due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "CID due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "IMD23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "PGM3-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "PGM3-EXACT congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "combined immunodeficiency due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "combined inflammatory and immunologic defect",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency with hyper IgE and cognitive impairment",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency-vasculitis-myoclonus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "phosphoglucomutase 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "phosphoglucomutase deficiency type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "CID due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "IMD23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "PGM3-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "PGM3-EXACT congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "combined immunodeficiency due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "combined inflammatory and immunologic defect",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency with hyper IgE and cognitive impairment",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency-vasculitis-myoclonus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "phosphoglucomutase 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "phosphoglucomutase deficiency type 3",
            "description": ""
        },
        {
            "id": "MIM:615816",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615816",
            "name": "Immunodeficiency 23",
            "description": "Immunodeficiency 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111953"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111953",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "categories": []
        },
        {
            "id": "MONDO:0014353",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "categories": []
        },
        {
            "id": "MIM:615816",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615816",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CYR6-1",
            "uniprot_ac": "Q9CYR6",
            "uniprot_id": "AGM1_MOUSE",
            "refseq_ac": "NP_001157218",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoacetylglucosamine mutase",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Acetylglucosamine phosphomutase",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-P mutase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-phosphate mutase",
                    "type": "synonym"
                },
                {
                    "name": "PAGM",
                    "type": "synonym"
                },
                {
                    "name": "PGM 3",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucomutase-3",
                    "type": "synonym"
                },
                {
                    "name": "acetylglucosamine phosphomutase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoacetylglucosamine mutase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoacetylglucosamine mutase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgm3",
                    "type": "recommended"
                },
                {
                    "name": "2810473H05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Agm1",
                    "type": "synonym"
                },
                {
                    "name": "PAGM",
                    "type": "synonym"
                },
                {
                    "name": "Pgm-3",
                    "type": "synonym"
                },
                {
                    "name": "Pgm3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CYR6-1",
            "evidence": [
                {
                    "id": "0111953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95394-1",
            "uniprot_ac": "O95394",
            "uniprot_id": "AGM1_HUMAN",
            "refseq_ac": "NP_001186846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoacetylglucosamine mutase",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Acetylglucosamine phosphomutase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-phosphate mutase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-phosphate mutase",
                    "type": "synonym"
                },
                {
                    "name": "PAGM",
                    "type": "synonym"
                },
                {
                    "name": "PGM 3",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucomutase-3",
                    "type": "synonym"
                },
                {
                    "name": "acetylglucosamine phosphomutase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoacetylglucosamine mutase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoacetylglucosamine mutase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGM3",
                    "type": "recommended"
                },
                {
                    "name": "AGM1",
                    "type": "synonym"
                },
                {
                    "name": "IMD23",
                    "type": "synonym"
                },
                {
                    "name": "PAGM",
                    "type": "synonym"
                },
                {
                    "name": "PGM 3",
                    "type": "synonym"
                },
                {
                    "name": "PGM3",
                    "type": "synonym"
                }
            ],
            "record_id": "O95394-1",
            "evidence": [
                {
                    "id": "0014353",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014353"
                },
                {
                    "id": "615816",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615816"
                },
                {
                    "id": "PGM3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PGM3/#!details"
                },
                {
                    "id": "0111953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38628-1",
            "uniprot_ac": "P38628",
            "uniprot_id": "AGM1_YEAST",
            "refseq_ac": "NP_010856",
            "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": "Phosphoacetylglucosamine mutase",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Acetylglucosamine phosphomutase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-phosphate mutase",
                    "type": "synonym"
                },
                {
                    "name": "PAGM",
                    "type": "synonym"
                },
                {
                    "name": "PGM-complementing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoacetylglucosamine mutase PCM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCM1",
                    "type": "recommended"
                },
                {
                    "name": "AGM1",
                    "type": "synonym"
                },
                {
                    "name": "PCM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38628-1",
            "evidence": [
                {
                    "id": "0111953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYN0-1",
            "uniprot_ac": "B2RYN0",
            "uniprot_id": "B2RYN0_RAT",
            "refseq_ac": "NP_001388122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoacetylglucosamine mutase",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Acetylglucosamine phosphomutase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-phosphate mutase",
                    "type": "synonym"
                },
                {
                    "name": "PAGM",
                    "type": "synonym"
                },
                {
                    "name": "phosphoacetylglucosamine mutase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgm3",
                    "type": "recommended"
                },
                {
                    "name": "Pgm3",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYN0-1",
            "evidence": [
                {
                    "id": "0111953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTZ4-1",
            "uniprot_ac": "Q9VTZ4",
            "uniprot_id": "Q9VTZ4_DROME",
            "refseq_ac": "NP_648588",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoacetylglucosamine mutase",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Acetylglucosamine phosphomutase",
                    "type": "synonym"
                },
                {
                    "name": "CG10627-PA",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-phosphate mutase",
                    "type": "synonym"
                },
                {
                    "name": "PAGM",
                    "type": "synonym"
                },
                {
                    "name": "nesthocker",
                    "type": "synonym"
                },
                {
                    "name": "nst-PA",
                    "type": "synonym"
                },
                {
                    "name": "phosphoacetylglucosamine mutase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nst",
                    "type": "recommended"
                },
                {
                    "name": "CG10627",
                    "type": "synonym"
                },
                {
                    "name": "DPgm3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10627",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10627",
                    "type": "synonym"
                },
                {
                    "name": "PGM3",
                    "type": "synonym"
                },
                {
                    "name": "Pgm3",
                    "type": "synonym"
                },
                {
                    "name": "nst",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTZ4-1",
            "evidence": [
                {
                    "id": "0111953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111953"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111953"
}