{
    "disease_id": "DOID:0080140",
    "recommended_name": {
        "id": "DOID:0080140",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080140",
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
        "description": "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080140",
            "name": "M syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080140",
            "name": "light fixation seizure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
            "description": "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase."
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "LFSS",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "MCAHS type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "PIGT-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "congenital disorder of glycosylation due to PIGT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "MCAHS3",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
            "description": "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase."
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "LFSS",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "MCAHS type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "PIGT-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "congenital disorder of glycosylation due to PIGT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT",
            "description": ""
        },
        {
            "id": "MONDO:0014165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "name": "MCAHS3",
            "description": ""
        },
        {
            "id": "MIM:615398",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615398",
            "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 3",
            "description": "Multiple congenital anomalies-hypotonia-seizures syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080140"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080140",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080140",
            "categories": []
        },
        {
            "id": "MONDO:0014165",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014165",
            "categories": []
        },
        {
            "id": "MIM:615398",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615398",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7V1-1",
            "uniprot_ac": "A0ACD6B7V1",
            "uniprot_id": "A0ACD6B7V1_DANRE",
            "refseq_ac": "XP_684608",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI transamidase component PIG-T isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pigt",
                    "type": "recommended"
                },
                {
                    "name": "pigt",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7V1-1",
            "evidence": [
                {
                    "id": "0080140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BXQ2-1",
            "uniprot_ac": "Q8BXQ2",
            "uniprot_id": "PIGT_MOUSE",
            "refseq_ac": "NP_598540",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI-anchor transamidase component PIGT",
                    "type": "recommended"
                },
                {
                    "name": "GPI transamidase component PIG-T",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase component PIGT isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase component PIGT",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal development-associated protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class T protein",
                    "type": "synonym"
                },
                {
                    "name": "neuronal development-associated protein 7",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class T protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigt",
                    "type": "recommended"
                },
                {
                    "name": "2510012P17Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930534E15Rik",
                    "type": "synonym"
                },
                {
                    "name": "CGI-06",
                    "type": "synonym"
                },
                {
                    "name": "NDAP",
                    "type": "synonym"
                },
                {
                    "name": "Ndap7",
                    "type": "synonym"
                },
                {
                    "name": "Pigt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BXQ2-1",
            "evidence": [
                {
                    "id": "0080140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969N2-1",
            "uniprot_ac": "Q969N2",
            "uniprot_id": "PIGT_HUMAN",
            "refseq_ac": "NP_001171657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI-anchor transamidase component PIGT",
                    "type": "recommended"
                },
                {
                    "name": "GPI transamidase component PIG-T",
                    "type": "synonym"
                },
                {
                    "name": "GPI transamidase subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase component PIGT isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase component PIGT",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class T protein",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophin-regulated neuronal development-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class T protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGT",
                    "type": "recommended"
                },
                {
                    "name": "CGI-06",
                    "type": "synonym"
                },
                {
                    "name": "MCAHS3",
                    "type": "synonym"
                },
                {
                    "name": "NDAP",
                    "type": "synonym"
                },
                {
                    "name": "PIG-T",
                    "type": "synonym"
                },
                {
                    "name": "PIGT",
                    "type": "synonym"
                },
                {
                    "name": "PNH2",
                    "type": "synonym"
                },
                {
                    "name": "PRO1379",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0163",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969N2-1",
            "evidence": [
                {
                    "id": "0014165",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014165"
                },
                {
                    "id": "615398",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615398"
                },
                {
                    "id": "PIGT",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGT/#!details"
                },
                {
                    "id": "0080140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38875-1",
            "uniprot_ac": "P38875",
            "uniprot_id": "GPI16_YEAST",
            "refseq_ac": "NP_012058",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI transamidase component GPI16",
                    "type": "recommended"
                },
                {
                    "name": "GPI-anchor transamidase subunit GPI16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI16",
                    "type": "recommended"
                },
                {
                    "name": "GPI16",
                    "type": "synonym"
                }
            ],
            "record_id": "P38875-1",
            "evidence": [
                {
                    "id": "0080140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GIH3-1",
            "uniprot_ac": "A0A8I6GIH3",
            "uniprot_id": "A0A8I6GIH3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis, class T",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigt",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GIH3-1",
            "evidence": [
                {
                    "id": "0080140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3G0-1",
            "uniprot_ac": "Q9W3G0",
            "uniprot_id": "Q9W3G0_DROME",
            "refseq_ac": "NP_572475",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11190-PA",
                    "type": "synonym"
                },
                {
                    "name": "PIG-T-PA",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis class T",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class T",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-T",
                    "type": "recommended"
                },
                {
                    "name": "27-522",
                    "type": "synonym"
                },
                {
                    "name": "CG11190",
                    "type": "synonym"
                },
                {
                    "name": "Dm*AAF46367/27-522",
                    "type": "synonym"
                },
                {
                    "name": "DmPIG-T",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11190",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11190",
                    "type": "synonym"
                },
                {
                    "name": "PIG-T",
                    "type": "synonym"
                },
                {
                    "name": "PIGT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3G0-1",
            "evidence": [
                {
                    "id": "0080140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080140"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080140"
}