{
    "disease_id": "DOID:0111626",
    "recommended_name": {
        "id": "DOID:0111626",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111626",
        "name": "D-glyceric aciduria",
        "description": "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111626",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111626",
            "name": "D-glycerate kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111626",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111626",
            "name": "D-glyceric acidemia",
            "description": ""
        },
        {
            "id": "DOID:0111626",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111626",
            "name": "D-glycericacidemia",
            "description": ""
        },
        {
            "id": "DOID:0111626",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111626",
            "name": "deficiency of glycerate kinase",
            "description": ""
        },
        {
            "id": "DOID:0111626",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111626",
            "name": "non ketotic hyperglycinemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009070",
            "name": "D-glyceric aciduria",
            "description": "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21."
        },
        {
            "id": "MONDO:0009070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009070",
            "name": "D-glycerate kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009070",
            "name": "D-glyceric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0009070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009070",
            "name": "d-glyceric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009070",
            "name": "D-glycericacidemia",
            "description": ""
        },
        {
            "id": "MONDO:0009070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009070",
            "name": "non ketotic hyperglycinemia syndrome",
            "description": ""
        },
        {
            "id": "MIM:220120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220120",
            "name": "D-glyceric aciduria",
            "description": "D-glyceric aciduria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111626"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111626",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111626",
            "categories": []
        },
        {
            "id": "MONDO:0009070",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009070",
            "categories": []
        },
        {
            "id": "MIM:220120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/220120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08BL7-1",
            "uniprot_ac": "Q08BL7",
            "uniprot_id": "GLCTK_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.31",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glyctk",
                    "type": "recommended"
                },
                {
                    "name": "zgc:153346",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08BL7-1",
            "evidence": [
                {
                    "id": "0111626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8QZY2-1",
            "uniprot_ac": "Q8QZY2",
            "uniprot_id": "GLCTK_MOUSE",
            "refseq_ac": "NP_001034675",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.31",
                    "type": "synonym"
                },
                {
                    "name": "glycerate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glyctk",
                    "type": "recommended"
                },
                {
                    "name": "6230410P16Rik",
                    "type": "synonym"
                },
                {
                    "name": "C430006L12",
                    "type": "synonym"
                },
                {
                    "name": "Glyctk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QZY2-1",
            "evidence": [
                {
                    "id": "0111626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IVS8-1",
            "uniprot_ac": "Q8IVS8",
            "uniprot_id": "GLCTK_HUMAN",
            "refseq_ac": "NP_001138423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.31",
                    "type": "synonym"
                },
                {
                    "name": "HBeAg binding protein 4",
                    "type": "synonym"
                },
                {
                    "name": "HBeAg-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "HBeAg-binding protein 4",
                    "type": "synonym"
                },
                {
                    "name": "glycerate kinase isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLYCTK",
                    "type": "recommended"
                },
                {
                    "name": "GLYCTK",
                    "type": "synonym"
                },
                {
                    "name": "HBEBP2",
                    "type": "synonym"
                },
                {
                    "name": "HBEBP4",
                    "type": "synonym"
                },
                {
                    "name": "HBeAgBP4A",
                    "type": "synonym"
                },
                {
                    "name": "LP5910",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IVS8-1",
            "evidence": [
                {
                    "id": "220120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/220120"
                },
                {
                    "id": "0111626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0VGK3-1",
            "uniprot_ac": "Q0VGK3",
            "uniprot_id": "GLCTK_RAT",
            "refseq_ac": "NP_001102919",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.31",
                    "type": "synonym"
                },
                {
                    "name": "glycerate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glyctk",
                    "type": "recommended"
                },
                {
                    "name": "Glyctk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VGK3-1",
            "evidence": [
                {
                    "id": "0111626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQC4-1",
            "uniprot_ac": "Q9VQC4",
            "uniprot_id": "GLCTK_DROME",
            "refseq_ac": "NP_001259941",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.31",
                    "type": "synonym"
                },
                {
                    "name": "CG9886-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AAF51252",
                    "type": "recommended"
                },
                {
                    "name": "Glyctk",
                    "type": "recommended"
                },
                {
                    "name": "AAF51252",
                    "type": "synonym"
                },
                {
                    "name": "CG9886",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9886",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9886",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQC4-1",
            "evidence": [
                {
                    "id": "0111626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111626"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111626"
}