{
    "disease_id": "DOID:0060177", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009351", 
            "description": "Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.", 
            "resource": "MONDO", 
            "id": "MONDO:0009351", 
            "name": "homocarnosinosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009351", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009351", 
            "name": "Homocarnosinase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009351", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009351", 
            "name": "homocarnosinosis"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060177", 
        "description": "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060177", 
        "name": "homocarnosinosis"
    }
}