{
    "disease_id": "DOID:0080139",
    "recommended_name": {
        "id": "DOID:0080139",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080139",
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2",
        "description": "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0080139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080139",
            "name": "early infantile epileptic encephalopathy 20",
            "description": ""
        },
        {
            "id": "DOID:0080139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080139",
            "name": "glycosylphosphatidylinositol biosynthesis defect 4",
            "description": ""
        },
        {
            "id": "DOID:0080139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080139",
            "name": "developmental and epileptic encephalopathy 20",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2",
            "description": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene."
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "DEE20",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "GPIBD4",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "MCAHS type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "MCAHS2",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "developmental and epileptic encephalopathy 20",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "epileptic encephalopathy, early infantile, 20",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "glycosylphosphatidylinositol biosynthesis defect 4",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA",
            "description": ""
        },
        {
            "id": "MIM:300868",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300868",
            "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 2",
            "description": "Multiple congenital anomalies-hypotonia-seizures syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080139"
    ],
    "unlinked_id_list": []
}