{
    "disease_id": "DOID:0070529",
    "recommended_name": {
        "id": "DOID:0070529",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070529",
        "name": "Sifrim-Hitz-Weiss syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31."
    },
    "synonyms": [
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "CHD4 Neurodevelopmental Disorder",
            "description": ""
        },
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "CHD4-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "CHD4-related neurodevelopmental syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "SIHIWES",
            "description": ""
        },
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "Sifrim-Hitz-Weiss syndrome",
            "description": "A rare multiple congenital anomalies/dysmorphic syndrome due to CHD4 gene mutations. It is characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence). Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males)."
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "CHD4-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "SIHIWES",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "Sifrim-Hitz-Weiss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "Sifrim-Hitz-Weiss syndrome; SIHIWES",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MIM:617159",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617159",
            "name": "Sifrim-Hitz-Weiss syndrome",
            "description": "Sifrim-Hitz-Weiss syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070529"
    ],
    "unlinked_id_list": []
}