{
    "disease_id": "DOID:0080138", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1; MCAHS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "PIGN-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "MCAHS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "glycosylphosphatidylinositol biosynthesis defect 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "congenital disorder of glycosylation due to PIGN deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013563", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013563", 
            "name": "multiple congenital anomalies - hypotonia - seizures syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080138", 
        "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 has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080138", 
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080138#disease-associations", 
            "id": "0080138", 
            "database": "Alliance of Genome Resources"
        }
    ]
}