{
    "disease_id": "DOID:0080139", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010466", 
            "name": "epileptic encephalopathy, early infantile, 20"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010466", 
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010466", 
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2; MCAHS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010466", 
            "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010466", 
            "name": "MCAHS type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010466", 
            "name": "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010466", 
            "name": "MCAHS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010466", 
            "name": "glycosylphosphatidylinositol biosynthesis defect 4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080139", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080139", 
            "name": "early infantile epileptic encephalopathy 20"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080139", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080139", 
            "name": "glycosylphosphatidylinositol biosynthesis defect 4"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080139", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080139", 
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080139#disease-associations", 
            "id": "0080139", 
            "database": "Alliance of Genome Resources"
        }
    ]
}