{
    "disease_id": "DOID:0080503",
    "recommended_name": {
        "id": "DOID:0080503",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080503",
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome",
        "description": "A lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency."
    },
    "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": "multiple congenital anomalies-hypotonia-seizures syndrome",
            "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": "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-hypotonia-seizures syndrome 1; MCAHS1",
            "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": "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": "MCAHS1",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "glycosylphosphatidylinositol biosynthesis defect 3",
            "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": "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"
        }
    ]
}