{
    "disease_id": "DOID:0070307", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011911", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011911", 
            "name": "Boyadjiev-Jabs syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011911", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011911", 
            "name": "CLSD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011911", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011911", 
            "name": "craniolenticulosutural dysplasia; CLSD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011911", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011911", 
            "name": "cranio-lenticulo-sutural dysplasia, CLSD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070307", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070307", 
            "name": "Boyadjiev-Jabs Syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070307", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070307", 
            "name": "cranio-lenticulo-sutural dysplasia, CLSD"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070307", 
        "description": "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070307", 
        "name": "craniolenticulosutural dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0070307#disease-associations", 
            "id": "0070307", 
            "database": "Alliance of Genome Resources"
        }
    ]
}