{
    "disease_id": "DOID:0060409",
    "recommended_name": {
        "id": "DOID:0060409",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060409",
        "name": "NFIA-related disorder",
        "description": "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia."
    },
    "synonyms": [
        {
            "id": "DOID:0060409",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060409",
            "name": "chromosome 1p32-p31 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060409",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060409",
            "name": "1p31p32 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060409",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060409",
            "name": "brain malformations with or without urinary tract defects",
            "description": ""
        },
        {
            "id": "DOID:0060409",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060409",
            "name": "Chromosome 1, Monosomy 1p32",
            "description": ""
        },
        {
            "id": "MONDO:0100478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100478",
            "name": "brain malformations with or without urinary tract defects",
            "description": "A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures."
        },
        {
            "id": "MIM:613735",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613735",
            "name": "Brain malformations with or without urinary tract defects",
            "description": "Brain malformations with or without urinary tract defects"
        }
    ]
}