{
    "disease_id": "DOID:0070062",
    "recommended_name": {
        "id": "DOID:0070062",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070062",
        "name": "Arboleda-Tham syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "MRD32",
            "description": ""
        },
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "autosomal dominant mental retardation 32",
            "description": ""
        },
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "autosomal dominant non-syndromic intellectual disability 32",
            "description": ""
        },
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "ARTHS",
            "description": ""
        },
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",
            "description": "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described."
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "Arboleda-Tham syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "KAT6A Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "MRD32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "autosomal dominant intellectual disability 32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "intellectual disability, autosomal dominant type 32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "mental retardation, autosomal dominant type 32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "intellectual disability, autosomal dominant 32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "mental retardation, autosomal dominant 32",
            "description": ""
        },
        {
            "id": "MIM:616268",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616268",
            "name": "Arboleda-Tham syndrome",
            "description": "Arboleda-Tham syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070062"
    ],
    "unlinked_id_list": []
}