{
    "disease_id": "DOID:0080283",
    "recommended_name": {
        "id": "DOID:0080283",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080283",
        "name": "developmental and epileptic encephalopathy 55",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "name": "early infantile epileptic encephalopathy 55",
            "description": ""
        },
        {
            "id": "DOID:0080283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "name": "glycosylphosphatidylinositol biosynthesis defect 14",
            "description": ""
        },
        {
            "id": "DOID:0080283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "name": "DEE55",
            "description": ""
        },
        {
            "id": "DOID:0080283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "name": "GPIBD14",
            "description": ""
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "developmental and epileptic encephalopathy, 55",
            "description": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "DEE55",
            "description": ""
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "EIEE55",
            "description": ""
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "developmental and epileptic encephalopathy 55",
            "description": ""
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "epileptic encephalopathy, early infantile, 55",
            "description": ""
        },
        {
            "id": "MIM:617599",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617599",
            "name": "Developmental and epileptic encephalopathy 55",
            "description": "Developmental and epileptic encephalopathy 55"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080283"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080283",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "categories": []
        },
        {
            "id": "MONDO:0033364",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "categories": []
        },
        {
            "id": "MIM:617599",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617599",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q1D2-1",
            "uniprot_ac": "A0A2R8Q1D2",
            "uniprot_id": "A0A2R8Q1D2_DANRE",
            "refseq_ac": "NP_956006",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit P",
                    "type": "recommended"
                },
                {
                    "name": "Down syndrome critical region gene 5",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit P",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pigp",
                    "type": "recommended"
                },
                {
                    "name": "dscr5",
                    "type": "synonym"
                },
                {
                    "name": "pigp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc66d08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73366",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q1D2-1",
            "evidence": [
                {
                    "id": "0080283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHG1-1",
            "uniprot_ac": "Q9JHG1",
            "uniprot_id": "PIGP_MOUSE",
            "refseq_ac": "NP_001153088",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit P",
                    "type": "recommended"
                },
                {
                    "name": "Down syndrome critical region gene c",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome critical region homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome critical region protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PIG-P",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class P protein",
                    "type": "synonym"
                },
                {
                    "name": "down syndrome critical region protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform a",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit P",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class P protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigp",
                    "type": "recommended"
                },
                {
                    "name": "Dcrc",
                    "type": "synonym"
                },
                {
                    "name": "Dscr5",
                    "type": "synonym"
                },
                {
                    "name": "Pigp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHG1-1",
            "evidence": [
                {
                    "id": "0080283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57054-1",
            "uniprot_ac": "P57054",
            "uniprot_id": "PIGP_HUMAN",
            "refseq_ac": "NP_001307409",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit P",
                    "type": "recommended"
                },
                {
                    "name": "Down syndrome critical region gene 5",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome critical region protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome critical region protein C",
                    "type": "synonym"
                },
                {
                    "name": "PIG-P",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class P protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit P",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class P",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class P protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-n-acetylglucosaminyltranferase subunit P",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-n-acetylglucosaminyltranferase subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGP",
                    "type": "recommended"
                },
                {
                    "name": "DCRC-S",
                    "type": "synonym"
                },
                {
                    "name": "DCRC",
                    "type": "synonym"
                },
                {
                    "name": "DEE55",
                    "type": "synonym"
                },
                {
                    "name": "DSCR5",
                    "type": "synonym"
                },
                {
                    "name": "DSCRC",
                    "type": "synonym"
                },
                {
                    "name": "DSRC",
                    "type": "synonym"
                },
                {
                    "name": "EIEE55",
                    "type": "synonym"
                },
                {
                    "name": "NPD010",
                    "type": "synonym"
                },
                {
                    "name": "PIG-P",
                    "type": "synonym"
                },
                {
                    "name": "PIGP",
                    "type": "synonym"
                }
            ],
            "record_id": "P57054-1",
            "evidence": [
                {
                    "id": "0033364",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0033364"
                },
                {
                    "id": "617599",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617599"
                },
                {
                    "id": "0080283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04082-1",
            "uniprot_ac": "Q04082",
            "uniprot_id": "GPI19_YEAST",
            "refseq_ac": "NP_010725",
            "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": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit GPI19",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.198",
                    "type": "synonym"
                },
                {
                    "name": "GPI-GlcNAc transferase complex subunit GPI19",
                    "type": "synonym"
                },
                {
                    "name": "GPI-GnT subunit GPI19",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase GPI19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI19",
                    "type": "recommended"
                },
                {
                    "name": "D9461.23",
                    "type": "synonym"
                },
                {
                    "name": "GPI19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04082-1",
            "evidence": [
                {
                    "id": "0080283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LBB8-1",
            "uniprot_ac": "A0ABK0LBB8",
            "uniprot_id": "A0ABK0LBB8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis, class P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigp",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LBB8-1",
            "evidence": [
                {
                    "id": "0080283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21708-1",
            "uniprot_ac": "P21708",
            "uniprot_id": "MK03_RAT",
            "refseq_ac": "NP_059043",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.24",
                    "type": "synonym"
                },
                {
                    "name": "ERK-1",
                    "type": "synonym"
                },
                {
                    "name": "ERT2",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular signal-regulated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-stimulated MAP2 kinase",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase isoform p44",
                    "type": "synonym"
                },
                {
                    "name": "MAPK 1",
                    "type": "synonym"
                },
                {
                    "name": "MAPK 3",
                    "type": "synonym"
                },
                {
                    "name": "MNK1",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule-associated protein 2 kinase",
                    "type": "synonym"
                },
                {
                    "name": "extracellular signal-regulated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "insulin-stimulated MAP2 kinase",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated protein 2 kinase",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated 3",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "p44-ERK1",
                    "type": "synonym"
                },
                {
                    "name": "p44-MAPK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mapk3",
                    "type": "recommended"
                },
                {
                    "name": "ERK1",
                    "type": "synonym"
                },
                {
                    "name": "ERT2",
                    "type": "synonym"
                },
                {
                    "name": "Erk-1",
                    "type": "synonym"
                },
                {
                    "name": "Erk1",
                    "type": "synonym"
                },
                {
                    "name": "Esrk1",
                    "type": "synonym"
                },
                {
                    "name": "MAPK1",
                    "type": "synonym"
                },
                {
                    "name": "MNK1",
                    "type": "synonym"
                },
                {
                    "name": "Mapk3",
                    "type": "synonym"
                },
                {
                    "name": "Prkm3",
                    "type": "synonym"
                },
                {
                    "name": "p44erk1",
                    "type": "synonym"
                },
                {
                    "name": "p44mapk",
                    "type": "synonym"
                },
                {
                    "name": "p44",
                    "type": "synonym"
                }
            ],
            "record_id": "P21708-1",
            "evidence": [
                {
                    "id": "0080283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080283"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080283"
}