{
    "disease_id": "DOID:0060409", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013396", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013396", 
            "name": "chromosome 1p32-p31 deletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013396", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013396", 
            "name": "monosomy 1p31p32"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013396", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013396", 
            "name": "brain malformations with or without urinary tract defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013396", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013396", 
            "name": "brain malformations with or without urinary tract defects; BRMUTD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013396", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013396", 
            "name": "Del(1)(p31p32)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013396", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013396", 
            "name": "1p31p32 microdeletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013396", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013396", 
            "name": "BRMUTD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060409", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060409", 
            "name": "chromosome 1p32-p31 deletion syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060409", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060409", 
            "name": "1p31p32 microdeletion syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060409", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060409", 
            "name": "brain malformations with or without urinary tract defects"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060409", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060409", 
        "name": "NFIA-related disorder"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060409#disease-associations", 
            "id": "0060409", 
            "database": "Alliance of Genome Resources"
        }
    ]
}