{
    "disease_id": "DOID:0060065",
    "recommended_name": {
        "id": "DOID:0060065",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060065",
        "name": "autosomal recessive pyridoxine-refractory sideroblastic anemia 2",
        "description": "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060065",
            "name": "pyridoxine-refractory autosomal recessive sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "DOID:0060065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060065",
            "name": "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2",
            "description": ""
        },
        {
            "id": "DOID:0060065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060065",
            "name": "pyridoxine-refractory autosomal recessive sideroblastic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0008785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008785",
            "name": "sideroblastic anemia 2",
            "description": ""
        },
        {
            "id": "MONDO:0008785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008785",
            "name": "SIDBA2",
            "description": ""
        },
        {
            "id": "MONDO:0008785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008785",
            "name": "pyridoxine refractory sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0008785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008785",
            "name": "pyridoxine refractory sideroblastic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0008785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008785",
            "name": "sideroblastic anaemia pyridoxine-refractory autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008785",
            "name": "sideroblastic anemia pyridoxine-refractory autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:205950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/205950",
            "name": "Anemia, sideroblastic, 2, pyridoxine-refractory",
            "description": "Anemia, sideroblastic, 2, pyridoxine-refractory"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060065"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060065",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060065",
            "categories": []
        },
        {
            "id": "MONDO:0008785",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008785",
            "categories": []
        },
        {
            "id": "MIM:205950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/205950",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08CI8-1",
            "uniprot_ac": "Q08CI8",
            "uniprot_id": "S238A_DANRE",
            "refseq_ac": "NP_001070070",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glycine transporter A",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 38-A",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glycine transporter A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a38a",
                    "type": "recommended"
                },
                {
                    "name": "slc25a38a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153036",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08CI8-1",
            "evidence": [
                {
                    "id": "0060065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CAT2-1",
            "uniprot_ac": "P0CAT2",
            "uniprot_id": "S238B_DANRE",
            "refseq_ac": "NP_001189387",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glycine transporter B",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 38-B",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glycine transporter B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a38b",
                    "type": "recommended"
                },
                {
                    "name": "SLC25A38",
                    "type": "synonym"
                },
                {
                    "name": "slc25a38b",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CAT2-1",
            "evidence": [
                {
                    "id": "0060065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91XD8-1",
            "uniprot_ac": "Q91XD8",
            "uniprot_id": "S2538_MOUSE",
            "refseq_ac": "NP_659042",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glycine transporter",
                    "type": "recommended"
                },
                {
                    "name": "Appoptosin",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 38",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glycine transporter isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glycine transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a38",
                    "type": "recommended"
                },
                {
                    "name": "Slc25a38",
                    "type": "synonym"
                },
                {
                    "name": "appoptosin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XD8-1",
            "evidence": [
                {
                    "id": "0060065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96DW6-1",
            "uniprot_ac": "Q96DW6",
            "uniprot_id": "S2538_HUMAN",
            "refseq_ac": "NP_060345",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glycine transporter",
                    "type": "recommended"
                },
                {
                    "name": "Appoptosin",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial glycine transporter GlyC",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 38",
                    "type": "synonym"
                },
                {
                    "name": "appoptosin",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glycine transporter GlyC",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glycine transporter isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A38",
                    "type": "recommended"
                },
                {
                    "name": "SIDBA2",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A38",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96DW6-1",
            "evidence": [
                {
                    "id": "205950",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/205950"
                },
                {
                    "id": "0060065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07534-1",
            "uniprot_ac": "Q07534",
            "uniprot_id": "S2538_YEAST",
            "refseq_ac": "NP_010164",
            "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": "Mitochondrial glycine transporter",
                    "type": "recommended"
                },
                {
                    "name": "Hem25p",
                    "type": "synonym"
                },
                {
                    "name": "Heme biosynthesis protein of SLC25 family",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 38 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HEM25",
                    "type": "recommended"
                },
                {
                    "name": "HEM25",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07534-1",
            "evidence": [
                {
                    "id": "0060065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499U1-1",
            "uniprot_ac": "Q499U1",
            "uniprot_id": "S2538_RAT",
            "refseq_ac": "NP_001025203",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glycine transporter",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 38",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glycine transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a38",
                    "type": "recommended"
                },
                {
                    "name": "RGD1311914",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A38",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a38",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499U1-1",
            "evidence": [
                {
                    "id": "0060065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060065"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060065"
}