{
    "disease_id": "DOID:0050723",
    "recommended_name": {
        "id": "DOID:0050723",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050723",
        "name": "PSAT deficiency",
        "description": "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid."
    },
    "synonyms": [
        {
            "id": "DOID:0050723",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050723",
            "name": "Phosphoserine aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012596",
            "name": "PSAT deficiency",
            "description": "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia."
        },
        {
            "id": "MONDO:0012596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012596",
            "name": "phosphoserine aminotransferase deficiency; PSATD",
            "description": ""
        },
        {
            "id": "MONDO:0012596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012596",
            "name": "phosphoserine aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012596",
            "name": "PSAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012596",
            "name": "PSATD",
            "description": ""
        },
        {
            "id": "MIM:610992",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610992",
            "name": "Phosphoserine aminotransferase deficiency",
            "description": "Phosphoserine aminotransferase deficiency"
        }
    ]
}