{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0050723",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050723",
            "categories": []
        },
        {
            "id": "MONDO:0012596",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012596",
            "categories": []
        },
        {
            "id": "MIM:610992",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610992",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99K85-1",
            "uniprot_ac": "Q99K85",
            "uniprot_id": "SERC_MOUSE",
            "refseq_ac": "NP_803155",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoserine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.52",
                    "type": "synonym"
                },
                {
                    "name": "EPIP",
                    "type": "synonym"
                },
                {
                    "name": "Endometrial progesterone-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "PSAT",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohydroxythreonine aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "endometrial progesterone-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphohydroxythreonine aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoserine aminotransferase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psat1",
                    "type": "recommended"
                },
                {
                    "name": "D8Ertd814e",
                    "type": "synonym"
                },
                {
                    "name": "EPIP",
                    "type": "synonym"
                },
                {
                    "name": "PSA",
                    "type": "synonym"
                },
                {
                    "name": "Psat1",
                    "type": "synonym"
                },
                {
                    "name": "Psat",
                    "type": "synonym"
                },
                {
                    "name": "Psa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99K85-1",
            "evidence": [
                {
                    "id": "0050723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y617-1",
            "uniprot_ac": "Q9Y617",
            "uniprot_id": "SERC_HUMAN",
            "refseq_ac": "NP_066977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoserine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.52",
                    "type": "synonym"
                },
                {
                    "name": "PSAT",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohydroxythreonine aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "endometrial progesterone-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphohydroxythreonine aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoserine aminotransferase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoserine transaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSAT1",
                    "type": "recommended"
                },
                {
                    "name": "EPIP",
                    "type": "synonym"
                },
                {
                    "name": "NLS2",
                    "type": "synonym"
                },
                {
                    "name": "PSAT1",
                    "type": "synonym"
                },
                {
                    "name": "PSATD",
                    "type": "synonym"
                },
                {
                    "name": "PSAT",
                    "type": "synonym"
                },
                {
                    "name": "PSA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y617-1",
            "evidence": [
                {
                    "id": "610992",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610992"
                },
                {
                    "id": "0050723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33330-1",
            "uniprot_ac": "P33330",
            "uniprot_id": "SERC_YEAST",
            "refseq_ac": "NP_014827",
            "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": "Phosphoserine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.52",
                    "type": "synonym"
                },
                {
                    "name": "O-phospho-L-serine:2-oxoglutarate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "PSAT",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohydroxythreonine aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Serine requiring protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SER1",
                    "type": "recommended"
                },
                {
                    "name": "ADE9",
                    "type": "synonym"
                },
                {
                    "name": "SER1",
                    "type": "synonym"
                },
                {
                    "name": "SERC",
                    "type": "synonym"
                }
            ],
            "record_id": "P33330-1",
            "evidence": [
                {
                    "id": "0050723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KAC0-1",
            "uniprot_ac": "A0A0G2KAC0",
            "uniprot_id": "A0A0G2KAC0_RAT",
            "refseq_ac": "XP_063143070",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoserine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.52",
                    "type": "synonym"
                },
                {
                    "name": "phosphoserine aminotransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psat1",
                    "type": "recommended"
                },
                {
                    "name": "Psa1",
                    "type": "synonym"
                },
                {
                    "name": "Psat1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KAC0-1",
            "evidence": [
                {
                    "id": "0050723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAN0-1",
            "uniprot_ac": "Q9VAN0",
            "uniprot_id": "SERC_DROME",
            "refseq_ac": "NP_652046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoserine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.52",
                    "type": "synonym"
                },
                {
                    "name": "CG11899-PA",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohydroxythreonine aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psat",
                    "type": "recommended"
                },
                {
                    "name": "39C10S",
                    "type": "synonym"
                },
                {
                    "name": "CG11899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11899",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:39C10S",
                    "type": "synonym"
                },
                {
                    "name": "Ov8",
                    "type": "synonym"
                },
                {
                    "name": "anon-sts29",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAN0-1",
            "evidence": [
                {
                    "id": "0050723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050723"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050723"
}