{
    "disease_id": "DOID:0111621", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009033", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009033", 
            "name": "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009033", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009033", 
            "name": "Dysmorphism, corpus callosum agenesis and colobomas"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009033", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009033", 
            "name": "TEMTAMY syndrome; TEMTYS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009033", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009033", 
            "name": "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009033", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009033", 
            "name": "Temtamy-Shalash syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009033", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009033", 
            "name": "TEMTYS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009033", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009033", 
            "name": "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111621", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111621", 
            "name": "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111621", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111621", 
            "name": "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111621", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111621", 
            "name": "Temtamy-Shalash syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111621", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111621", 
            "name": "dysmorphism, corpus callosum agenesis and colobomas"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111621", 
        "description": "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111621", 
        "name": "Temtamy syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111621#disease-associations", 
            "id": "0111621", 
            "database": "Alliance of Genome Resources"
        }
    ]
}