{
    "disease_id": "DOID:0050675", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012856", 
            "name": "intellectual disability-hypotonia-facial dysmorphism syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012856", 
            "name": "intellectual disability, Birk-Barel type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012856", 
            "name": "BIRK-Barel mental retardation dysmorphism syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012856", 
            "name": "mental retardation with hypotonia and Facial Dysmorphism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012856", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012856", 
            "name": "Birk Barel mental retardation dysmorphism syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050675", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050675", 
            "name": "Birk-Barel mental retardation dysmorphism syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/612292", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:612292", 
            "name": "Birk-Barel mental retardation dysmorphism syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050675", 
        "description": "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050675", 
        "name": "Birk-Barel syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/612292", 
            "id": "612292", 
            "database": "MIM"
        }
    ]
}