{
    "disease_id": "DOID:0070536",
    "recommended_name": {
        "id": "DOID:0070536",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070536",
        "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",
        "description": "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070536",
            "name": "NEDHLSS",
            "description": ""
        },
        {
            "id": "MONDO:0859286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859286",
            "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",
            "description": ""
        },
        {
            "id": "MIM:620029",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620029",
            "name": "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",
            "description": "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070536"
    ],
    "unlinked_id_list": []
}