{
    "disease_id": "DOID:0060438", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007204", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007204", 
            "name": "Cole-Carpenter syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007204", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007204", 
            "name": "CLCRP1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007204", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007204", 
            "name": "Cole-Carpenter syndrome caused by mutation in P4HB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007204", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007204", 
            "name": "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007204", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007204", 
            "name": "P4HB Cole-Carpenter syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007204", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007204", 
            "name": "COLE-CARPENTER syndrome 1; CLCRP1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007204", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007204", 
            "name": "Cole-Carpenter syndrome type 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060438", 
        "description": "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060438", 
        "name": "Cole-Carpenter syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060438#disease-associations", 
            "id": "0060438", 
            "database": "Alliance of Genome Resources"
        }
    ]
}