{
    "disease_id": "DOID:0080503",
    "recommended_name": {
        "id": "DOID:0080503",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080503",
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome",
        "description": "A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies."
    },
    "synonyms": [
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
            "description": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene."
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "PIGN-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "congenital disorder of glycosylation due to PIGN deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "inherited GPI anchor-deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "PIGN-related inherited GPI deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "MCAHS1",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies - hypotonia - seizures syndrome",
            "description": ""
        },
        {
            "id": "MIM:614080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614080",
            "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 1",
            "description": "Multiple congenital anomalies-hypotonia-seizures syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080138",
            "label": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080139",
            "label": "multiple congenital anomalies-hypotonia-seizures syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080140",
            "label": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112213",
            "label": "multiple congenital anomalies-hypotonia-seizures syndrome 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0112213",
        "DOID:0080138",
        "DOID:0080139",
        "DOID:0080503",
        "DOID:0080140"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080503",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080503",
            "categories": []
        },
        {
            "id": "MONDO:0013563",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "categories": []
        },
        {
            "id": "MIM:614080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O95427-1",
            "uniprot_ac": "O95427",
            "uniprot_id": "PIGN_HUMAN",
            "refseq_ac": "NP_036459",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "GPI-ETI",
                    "type": "synonym"
                },
                {
                    "name": "GPI-ethanolamine transferase I",
                    "type": "synonym"
                },
                {
                    "name": "MCD4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PIG-N",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class N protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class N protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGN",
                    "type": "recommended"
                },
                {
                    "name": "GPI-ETI",
                    "type": "synonym"
                },
                {
                    "name": "MCAHS1",
                    "type": "synonym"
                },
                {
                    "name": "MCAHS",
                    "type": "synonym"
                },
                {
                    "name": "MCD4",
                    "type": "synonym"
                },
                {
                    "name": "MDC4",
                    "type": "synonym"
                },
                {
                    "name": "PIG-N",
                    "type": "synonym"
                },
                {
                    "name": "PIGN",
                    "type": "synonym"
                }
            ],
            "record_id": "O95427-1",
            "evidence": [
                {
                    "id": "23556",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/23556#disease"
                },
                {
                    "id": "614080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614080"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080503"
}