{
    "disease_id": "DOID:0050722",
    "recommended_name": {
        "id": "DOID:0050722",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050722",
        "name": "PHGDH deficiency",
        "description": "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis."
    },
    "synonyms": [
        {
            "id": "DOID:0050722",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050722",
            "name": "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY",
            "description": ""
        },
        {
            "id": "MONDO:0011152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011152",
            "name": "PHGDH deficiency",
            "description": "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form"
        },
        {
            "id": "MONDO:0011152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011152",
            "name": "PHOSPHOGLYCERATE dehydrogenase deficiency; PHGDHD",
            "description": ""
        },
        {
            "id": "MONDO:0011152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011152",
            "name": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",
            "description": ""
        },
        {
            "id": "MONDO:0011152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011152",
            "name": "PHOSPHOGLYCERATE dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011152",
            "name": "PHGDHD",
            "description": ""
        },
        {
            "id": "MONDO:0011152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011152",
            "name": "PHGDH deficiency",
            "description": ""
        },
        {
            "id": "MIM:601815",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601815",
            "name": "Phosphoglycerate dehydrogenase deficiency",
            "description": "Phosphoglycerate dehydrogenase deficiency"
        }
    ]
}