{
    "disease_id": "DOID:0111668",
    "recommended_name": {
        "id": "DOID:0111668",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111668",
        "name": "Kohlschutter-Tonz syndrome",
        "description": "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "KTZS",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "Kohlschutter's syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "amelocerebrohypohidrotic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "epilepsy and yellow teeth",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "epilepsy dementia amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "epilepsy-dementia-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "amelocerebrohypohidrotic syndrome",
            "description": "Kohlschtter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia."
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "Kohlschutter-Tonz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "amelocerebrohypohidrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "epilepsy-dementia-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "KOHLSCHUTTER-Tonz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "KTZS",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "Kohlschutter Tonz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "epilepsy dementia amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MIM:226750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226750",
            "name": "Kohlschuetter-Toenz syndrome",
            "description": "Kohlschuetter-Toenz syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111668"
    ],
    "unlinked_id_list": []
}