{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009365", 
            "name": "hydrolethalus syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009365", 
            "name": "hydrolethalus syndrome 1; HLS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009365", 
            "name": "HYLS1 hydrolethalus syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009365", 
            "name": "hydrolethalus syndrome caused by mutation in HYLS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009365", 
            "name": "HLS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009365", 
            "name": "hydrolethalus syndrome type 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050779", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050779", 
            "name": "Salonen-Herva-Norio syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/236680", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:236680", 
            "name": "Hydrolethalus syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050779", 
        "description": "A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050779", 
        "name": "hydrolethalus syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/236680", 
            "id": "236680", 
            "database": "MIM"
        }
    ]
}