{
    "disease_id": "DOID:0111621",
    "recommended_name": {
        "id": "DOID:0111621",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111621",
        "name": "Temtamy syndrome",
        "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 the C12ORF57 gene on chromosome 12p13.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "name": "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation",
            "description": ""
        },
        {
            "id": "DOID:0111621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "name": "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "name": "Temtamy-Shalash syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "name": "dysmorphism, corpus callosum agenesis and colobomas",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "temtamy syndrome",
            "description": "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities."
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "Temtamy-Shalash syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "temtamy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "Dysmorphism, corpus callosum agenesis and colobomas",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "TEMTYS",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum",
            "description": ""
        },
        {
            "id": "MIM:218340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218340",
            "name": "Temtamy syndrome",
            "description": "Temtamy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111621"
    ],
    "unlinked_id_list": []
}