{
    "disease_id": "DOID:0060177",
    "recommended_name": {
        "id": "DOID:0060177",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060177",
        "name": "homocarnosinosis",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0009351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009351",
            "name": "homocarnosinosis",
            "description": "Homocarnosinosis is a metabolic defect characterized 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."
        },
        {
            "id": "MONDO:0009351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009351",
            "name": "Homocarnosinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009351",
            "name": "homocarnosinosis",
            "description": ""
        }
    ]
}