{
    "disease_id": "DOID:0050724",
    "recommended_name": {
        "id": "DOID:0050724",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050724",
        "name": "PSPH deficiency",
        "description": "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine."
    },
    "synonyms": [
        {
            "id": "DOID:0050724",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050724",
            "name": "PSPHD",
            "description": ""
        },
        {
            "id": "DOID:0050724",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050724",
            "name": "Phosphoserine phosphatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013531",
            "name": "PSPH deficiency",
            "description": "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)."
        },
        {
            "id": "MONDO:0013531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013531",
            "name": "PSPHD",
            "description": ""
        },
        {
            "id": "MONDO:0013531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013531",
            "name": "phosphoserine phosphatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013531",
            "name": "3-phosphoserine phosphatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013531",
            "name": "phosphoserine phosphatase deficiency; PSPHD",
            "description": ""
        },
        {
            "id": "MIM:614023",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614023",
            "name": "Phosphoserine phosphatase deficiency",
            "description": "Phosphoserine phosphatase deficiency"
        }
    ]
}