{
    "disease_id": "DOID:0081441",
    "recommended_name": {
        "id": "DOID:0081441",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081441",
        "name": "Nicolaides-Baraitser syndrome",
        "description": "A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0081441",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081441",
            "name": "Intellectual disability-sparse hair-brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081441",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081441",
            "name": "SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "intellectual disability-sparse hair-brachydactyly syndrome",
            "description": "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now."
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "Nicolaides-Baraitser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "SMARCA2-related BAFopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "intellectual disability-sparse hair-brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "NBs",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "NCBRS",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "NICOLAIDES-Baraitser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "sparse hair and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "sparse hair and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:601358",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601358",
            "name": "Nicolaides-Baraitser syndrome",
            "description": "Nicolaides-Baraitser syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081441"
    ],
    "unlinked_id_list": []
}