{
    "disease_id": "DOID:0050724",
    "recommended_name": {
        "id": "DOID:0050724",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0050724",
            "name": "PSPHD",
            "description": ""
        },
        {
            "id": "DOID:0050724",
            "resource": "Disease Ontology",
            "url": "https://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 characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome."
        },
        {
            "id": "MONDO:0013531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013531",
            "name": "PSPH deficiency",
            "description": ""
        },
        {
            "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": "MIM:614023",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614023",
            "name": "Phosphoserine phosphatase deficiency",
            "description": "Phosphoserine phosphatase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050724"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050724",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050724",
            "categories": []
        },
        {
            "id": "MONDO:0013531",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013531",
            "categories": []
        },
        {
            "id": "MIM:614023",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614023",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99LS3-1",
            "uniprot_ac": "Q99LS3",
            "uniprot_id": "SERB_MOUSE",
            "refseq_ac": "NP_598661",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoserine phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoserine phosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "PSPase",
                    "type": "synonym"
                },
                {
                    "name": "PSP",
                    "type": "synonym"
                },
                {
                    "name": "phosphoserine phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psph",
                    "type": "recommended"
                },
                {
                    "name": "PSPase",
                    "type": "synonym"
                },
                {
                    "name": "PSP",
                    "type": "synonym"
                },
                {
                    "name": "Psph",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LS3-1",
            "evidence": [
                {
                    "id": "0050724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050724"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78330-1",
            "uniprot_ac": "P78330",
            "uniprot_id": "SERB_HUMAN",
            "refseq_ac": "NP_004568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoserine phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "L-3-phosphoserine phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoserine phosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "PSPase",
                    "type": "synonym"
                },
                {
                    "name": "PSP",
                    "type": "synonym"
                },
                {
                    "name": "phosphoserine phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSPH",
                    "type": "recommended"
                },
                {
                    "name": "PSPHD",
                    "type": "synonym"
                },
                {
                    "name": "PSPH",
                    "type": "synonym"
                },
                {
                    "name": "PSP",
                    "type": "synonym"
                }
            ],
            "record_id": "P78330-1",
            "evidence": [
                {
                    "id": "614023",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614023"
                },
                {
                    "id": "0050724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050724"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42941-1",
            "uniprot_ac": "P42941",
            "uniprot_id": "SERB_YEAST",
            "refseq_ac": "NP_011724",
            "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 phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoserine phosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "PSPase",
                    "type": "synonym"
                },
                {
                    "name": "PSP",
                    "type": "synonym"
                },
                {
                    "name": "phosphoserine phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SER2",
                    "type": "recommended"
                },
                {
                    "name": "G7744",
                    "type": "synonym"
                },
                {
                    "name": "SER2",
                    "type": "synonym"
                }
            ],
            "record_id": "P42941-1",
            "evidence": [
                {
                    "id": "0050724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050724"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M819-1",
            "uniprot_ac": "Q5M819",
            "uniprot_id": "SERB_RAT",
            "refseq_ac": "NP_001009679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoserine phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoserine phosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "PSPase",
                    "type": "synonym"
                },
                {
                    "name": "PSP",
                    "type": "synonym"
                },
                {
                    "name": "phosphoserine phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psph",
                    "type": "recommended"
                },
                {
                    "name": "Psph",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M819-1",
            "evidence": [
                {
                    "id": "0050724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050724"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSY6-1",
            "uniprot_ac": "Q9VSY6",
            "uniprot_id": "SERB_DROME",
            "refseq_ac": "NP_524001",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoserine phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3-phosphoserine phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "CG3705-PA",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoserine phosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "PSPase",
                    "type": "synonym"
                },
                {
                    "name": "PSP",
                    "type": "synonym"
                },
                {
                    "name": "aay-PA",
                    "type": "synonym"
                },
                {
                    "name": "astray",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aay",
                    "type": "recommended"
                },
                {
                    "name": "0423/14",
                    "type": "synonym"
                },
                {
                    "name": "24661601",
                    "type": "synonym"
                },
                {
                    "name": "Aay",
                    "type": "synonym"
                },
                {
                    "name": "CG3705",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3705",
                    "type": "synonym"
                },
                {
                    "name": "aay",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.117",
                    "type": "synonym"
                },
                {
                    "name": "astray",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSY6-1",
            "evidence": [
                {
                    "id": "0050724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050724"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050724"
}