{
    "disease_id": "DOID:0050723",
    "recommended_name": {
        "id": "DOID:0050723",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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 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": "PSAT deficiency",
            "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": "PSATD",
            "description": ""
        },
        {
            "id": "MIM:610992",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610992",
            "name": "Phosphoserine aminotransferase deficiency",
            "description": "Phosphoserine aminotransferase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050723"
    ],
    "unlinked_id_list": []
}