{
    "disease_id": "DOID:0050722",
    "recommended_name": {
        "id": "DOID:0050722",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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 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": "PHGDH deficiency",
            "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": "MIM:601815",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601815",
            "name": "Phosphoglycerate dehydrogenase deficiency",
            "description": "Phosphoglycerate dehydrogenase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050722"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050722",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050722",
            "categories": []
        },
        {
            "id": "MONDO:0011152",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011152",
            "categories": []
        },
        {
            "id": "MIM:601815",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601815",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QEY8-1",
            "uniprot_ac": "F1QEY8",
            "uniprot_id": "F1QEY8_DANRE",
            "refseq_ac": "NP_955871",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.95",
                    "type": "synonym"
                },
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "phgdh",
                    "type": "recommended"
                },
                {
                    "name": "fb38f06",
                    "type": "synonym"
                },
                {
                    "name": "phgdh",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb38f06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65956",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QEY8-1",
            "evidence": [
                {
                    "id": "0050722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61753-1",
            "uniprot_ac": "Q61753",
            "uniprot_id": "SERA_MOUSE",
            "refseq_ac": "NP_058662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.95",
                    "type": "synonym"
                },
                {
                    "name": "3-PGDH",
                    "type": "synonym"
                },
                {
                    "name": "3-phosphoglycerate dehyrogenase",
                    "type": "synonym"
                },
                {
                    "name": "A10",
                    "type": "synonym"
                },
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phgdh",
                    "type": "recommended"
                },
                {
                    "name": "3-PGDH",
                    "type": "synonym"
                },
                {
                    "name": "3PGDH",
                    "type": "synonym"
                },
                {
                    "name": "4930479N23",
                    "type": "synonym"
                },
                {
                    "name": "A10",
                    "type": "synonym"
                },
                {
                    "name": "PGAD",
                    "type": "synonym"
                },
                {
                    "name": "PGDH",
                    "type": "synonym"
                },
                {
                    "name": "PGD",
                    "type": "synonym"
                },
                {
                    "name": "Phgdh",
                    "type": "synonym"
                },
                {
                    "name": "SERA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61753-1",
            "evidence": [
                {
                    "id": "0050722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43175-1",
            "uniprot_ac": "O43175",
            "uniprot_id": "SERA_HUMAN",
            "refseq_ac": "NP_006614",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.399",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.95",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-PGDH",
                    "type": "synonym"
                },
                {
                    "name": "3-phosphoglycerate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 113",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHGDH",
                    "type": "recommended"
                },
                {
                    "name": "3-PGDH",
                    "type": "synonym"
                },
                {
                    "name": "3PGDH",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-113",
                    "type": "synonym"
                },
                {
                    "name": "NLS1",
                    "type": "synonym"
                },
                {
                    "name": "NLS",
                    "type": "synonym"
                },
                {
                    "name": "PDG",
                    "type": "synonym"
                },
                {
                    "name": "PGAD",
                    "type": "synonym"
                },
                {
                    "name": "PGDH3",
                    "type": "synonym"
                },
                {
                    "name": "PGDH",
                    "type": "synonym"
                },
                {
                    "name": "PGD",
                    "type": "synonym"
                },
                {
                    "name": "PHGDHD",
                    "type": "synonym"
                },
                {
                    "name": "PHGDH",
                    "type": "synonym"
                },
                {
                    "name": "SERA",
                    "type": "synonym"
                }
            ],
            "record_id": "O43175-1",
            "evidence": [
                {
                    "id": "601815",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601815"
                },
                {
                    "id": "0050722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40054-1",
            "uniprot_ac": "P40054",
            "uniprot_id": "SERA_YEAST",
            "refseq_ac": "NP_011004",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-3-phosphoglycerate dehydrogenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.399",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.95",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-PGDH 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate dehydrogenase SER3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SER3",
                    "type": "recommended"
                },
                {
                    "name": "SER3",
                    "type": "synonym"
                }
            ],
            "record_id": "P40054-1",
            "evidence": [
                {
                    "id": "0050722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40510-1",
            "uniprot_ac": "P40510",
            "uniprot_id": "SER33_YEAST",
            "refseq_ac": "NP_012191",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-3-phosphoglycerate dehydrogenase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.399",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.95",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-PGDH 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate dehydrogenase SER33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SER33",
                    "type": "recommended"
                },
                {
                    "name": "SER33",
                    "type": "synonym"
                }
            ],
            "record_id": "P40510-1",
            "evidence": [
                {
                    "id": "0050722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08651-1",
            "uniprot_ac": "O08651",
            "uniprot_id": "SERA_RAT",
            "refseq_ac": "NP_113808",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.95",
                    "type": "synonym"
                },
                {
                    "name": "3-PGDH",
                    "type": "synonym"
                },
                {
                    "name": "3-phosphoglycerate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phgdh",
                    "type": "recommended"
                },
                {
                    "name": "Phgdh",
                    "type": "synonym"
                }
            ],
            "record_id": "O08651-1",
            "evidence": [
                {
                    "id": "0050722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKI8-1",
            "uniprot_ac": "Q9VKI8",
            "uniprot_id": "Q9VKI8_DROME",
            "refseq_ac": "NP_609496",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-3-phosphoglycerate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "CG6287-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phgdh",
                    "type": "recommended"
                },
                {
                    "name": "CG6287",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6287",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6287",
                    "type": "synonym"
                },
                {
                    "name": "GH26",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKI8-1",
            "evidence": [
                {
                    "id": "0050722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050722"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050722"
}