{
    "disease_id": "DOID:0060470", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "Amish infantile epilepsy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "salt and pepper mental retardation syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "salt and pepper developmental regression syndrome; SPDRS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "SPDRS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "epilepsy syndrome, infantile-onset symptomatic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "GM3 synthase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012189", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012189", 
            "name": "salt and pepper developmental regression syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060470", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060470", 
            "name": "salt & pepper syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060470", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060470", 
            "name": "salt-and-pepper syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060470", 
        "description": "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060470", 
        "name": "salt and pepper syndrome"
    }, 
    "evidence": [
        {
            "url": "https://glycosmos.org/glycogenes/show?source=kegg&gene_id=8869", 
            "id": "8869", 
            "database": "GlyCosmos"
        }
    ]
}