{
    "disease_id": "DOID:0060290", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011365", 
            "name": "blepharophimosis - intellectual disability syndrome, SBBYS type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011365", 
            "name": "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011365", 
            "name": "Young-Simpson syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011365", 
            "name": "Ohdo syndrome, SBBYS variant; SBBYSS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011365", 
            "name": "Ohdo syndrome, SBBYS variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011365", 
            "name": "Say-Barber-Biesecker-Young-Simpson syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011365", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011365", 
            "name": "SBBYSS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060290", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060290", 
            "name": "Ohdo syndrome, SBBYS Variant"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060290", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060290", 
            "name": "Say-Barber-Biesecker-Young-Simpson syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/603736", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:603736", 
            "name": "Ohdo syndrome, SBBYS variant"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060290", 
        "description": "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060290", 
        "name": "blepharophimosis-intellectual disability syndrome, SBBYS type"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/603736", 
            "id": "603736", 
            "database": "MIM"
        }
    ]
}