{
    "disease_id": "DOID:0080698", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "autosomal dominant Opitz G/BBB syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "ADOS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "GBBB syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "autosomal dominant Opitz BBB/G syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz GBBB syndrome, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "hypertelorism with esophageal Abnormality and hypospadias"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz GBBB syndrome, type II; GBBB2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz G/BBB syndrome, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "hypertelorism-hypospadias syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "chromosome 22Q11.2 deletion syndrome, Opitz phenotype"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz-Frias syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "GBBB2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "hypospadias-dysphagia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "autosomal dominant Opitz syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "BBB syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz oculogenitolaryngeal syndrome, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "telecanthus with associated abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "telecanthus-hypospadias syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz GBBB syndrome, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "G syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz Bbbg syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz-G syndrome, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007779", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007779", 
            "name": "Opitz GBBB syndrome, type II"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080698", 
        "description": "An Opitz-GBBB syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080698", 
        "name": "Opitz GBBB syndrome type II"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080698#disease-associations", 
            "id": "0080698", 
            "database": "Alliance of Genome Resources"
        }
    ]
}