{
    "disease_id": "DOID:0060063",
    "recommended_name": {
        "id": "DOID:0060063",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060063",
        "name": "sideroblastic anemia 1",
        "description": "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production."
    },
    "synonyms": [
        {
            "id": "DOID:0060063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060063",
            "name": "X-linked sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "DOID:0060063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060063",
            "name": "X-linked sideroblastic anemia",
            "description": ""
        },
        {
            "id": "DOID:0060063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060063",
            "name": "XLSA",
            "description": ""
        },
        {
            "id": "DOID:0060063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060063",
            "name": "sideroblastic anaemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "X-linked sideroblastic anemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "X-linked sideroblastic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "XLSA",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "anemia, sideroblastic, 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "sideroblastic anemia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "ANH1",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "SIDBA1",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "X chromosome-linked sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "X chromosome-linked sideroblastic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "anaemia hereditary sideroblastic",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "anaemia sex-linked hypochromic sideroblastic",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "anemia hereditary sideroblastic",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "anemia sex-linked hypochromic sideroblastic",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "anemia, sideroblastic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "erythroid 5-aminolevulinate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "hereditary iron-loading Anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "sideroblastic anaemia X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0020721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "name": "sideroblastic anemia X-linked",
            "description": ""
        },
        {
            "id": "MIM:300751",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300751",
            "name": "Anemia, sideroblastic, 1",
            "description": "Anemia, sideroblastic, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060063"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060063",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060063",
            "categories": []
        },
        {
            "id": "MONDO:0020721",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020721",
            "categories": []
        },
        {
            "id": "MIM:300751",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300751",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9YHT4-1",
            "uniprot_ac": "Q9YHT4",
            "uniprot_id": "HEM0_DANRE",
            "refseq_ac": "NP_571757",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.37",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinic acid synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "ALAS-E",
                    "type": "synonym"
                },
                {
                    "name": "Delta-ALA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "Delta-aminolevulinate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "aminolevulinate, delta-, synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "delta-ALA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "delta-ALA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "delta-aminolevulinate synthase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alas2",
                    "type": "recommended"
                },
                {
                    "name": "alas-e",
                    "type": "synonym"
                },
                {
                    "name": "alas2",
                    "type": "synonym"
                },
                {
                    "name": "cb1063",
                    "type": "synonym"
                },
                {
                    "name": "sauternes",
                    "type": "synonym"
                },
                {
                    "name": "sau",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-24f17.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9YHT4-1",
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                {
                    "id": "0060063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08680-1",
            "uniprot_ac": "P08680",
            "uniprot_id": "HEM0_MOUSE",
            "refseq_ac": "NP_001095916",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.37",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinic acid synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "ALAS-E",
                    "type": "synonym"
                },
                {
                    "name": "Delta-ALA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "Delta-aminolevulinate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "delta-ALA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "delta-aminolevulinate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "erythroid-specific ALAS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alas2",
                    "type": "recommended"
                },
                {
                    "name": "ALAS-E",
                    "type": "synonym"
                },
                {
                    "name": "ALASE",
                    "type": "synonym"
                },
                {
                    "name": "ALAS",
                    "type": "synonym"
                },
                {
                    "name": "Alas-2",
                    "type": "synonym"
                },
                {
                    "name": "Alas2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22557-1",
            "uniprot_ac": "P22557",
            "uniprot_id": "HEM0_HUMAN",
            "refseq_ac": "NP_000023",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.37",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinic acid synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "ALAS-E",
                    "type": "synonym"
                },
                {
                    "name": "Delta-ALA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "Delta-aminolevulinate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "aminolevulinate, delta-, synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "delta-ALA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "delta-ALA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "delta-aminolevulinate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "erythroid-specific delta-aminolevulinate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALAS2",
                    "type": "recommended"
                },
                {
                    "name": "ALAS-E",
                    "type": "synonym"
                },
                {
                    "name": "ALAS2",
                    "type": "synonym"
                },
                {
                    "name": "ALASE",
                    "type": "synonym"
                },
                {
                    "name": "ANH1",
                    "type": "synonym"
                },
                {
                    "name": "ASB",
                    "type": "synonym"
                },
                {
                    "name": "SIDBA1",
                    "type": "synonym"
                },
                {
                    "name": "XLDPP",
                    "type": "synonym"
                },
                {
                    "name": "XLEPP",
                    "type": "synonym"
                },
                {
                    "name": "XLSA",
                    "type": "synonym"
                }
            ],
            "record_id": "P22557-1",
            "evidence": [
                {
                    "id": "300751",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300751"
                },
                {
                    "id": "0060063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09950-1",
            "uniprot_ac": "P09950",
            "uniprot_id": "HEM1_YEAST",
            "refseq_ac": "NP_010518",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-aminolevulinate synthase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.37",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "Delta-ALA synthase",
                    "type": "synonym"
                },
                {
                    "name": "Delta-aminolevulinate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HEM1",
                    "type": "recommended"
                },
                {
                    "name": "CYD1",
                    "type": "synonym"
                },
                {
                    "name": "HEM1",
                    "type": "synonym"
                },
                {
                    "name": "OLE3",
                    "type": "synonym"
                },
                {
                    "name": "YD9934.16",
                    "type": "synonym"
                }
            ],
            "record_id": "P09950-1",
            "evidence": [
                {
                    "id": "0060063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63147-1",
            "uniprot_ac": "Q63147",
            "uniprot_id": "HEM0_RAT",
            "refseq_ac": "NP_037329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.37",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinic acid synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "ALAS-E",
                    "type": "synonym"
                },
                {
                    "name": "Aminolevulinate synthase 2, delta",
                    "type": "synonym"
                },
                {
                    "name": "Delta-ALA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "Delta-aminolevulinate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "aminolevulinate, delta-, synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "aminolevulinic acid synthase 2, erythroid-like",
                    "type": "synonym"
                },
                {
                    "name": "aminolevulinic acid synthase 2, erythroid",
                    "type": "synonym"
                },
                {
                    "name": "delta-ALA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "delta-ALA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "delta-aminolevulinate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "erythroid-specific delta-aminolevulinate synthase ALAS-E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alas2",
                    "type": "recommended"
                },
                {
                    "name": "Alas2",
                    "type": "synonym"
                },
                {
                    "name": "Alase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63147-1",
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                {
                    "id": "0060063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O18680-1",
            "uniprot_ac": "O18680",
            "uniprot_id": "O18680_DROME",
            "refseq_ac": "NP_477281",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-aminolevulinate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.37",
                    "type": "synonym"
                },
                {
                    "name": "5-aminolevulinic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "Alas-PA",
                    "type": "synonym"
                },
                {
                    "name": "Alas/50-Aminolevulinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "CG3017-PA",
                    "type": "synonym"
                },
                {
                    "name": "Delta-ALA synthase",
                    "type": "synonym"
                },
                {
                    "name": "Delta-aminolevulinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "aminolevulinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "delta-Aminolevulinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "delta-aminolevulinic acid synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alas",
                    "type": "recommended"
                },
                {
                    "name": "ALAS",
                    "type": "synonym"
                },
                {
                    "name": "Alas",
                    "type": "synonym"
                },
                {
                    "name": "CG3017",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3017",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3017",
                    "type": "synonym"
                },
                {
                    "name": "alas",
                    "type": "synonym"
                },
                {
                    "name": "dALAS",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16740-1",
            "uniprot_ac": "Q16740",
            "uniprot_id": "CLPP_HUMAN",
            "refseq_ac": "NP_006003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.92",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent protease ClpAP, proteolytic subunit, human",
                    "type": "synonym"
                },
                {
                    "name": "Caseinolytic mitochondrial matrix peptidase proteolytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "ClpP caseinolytic peptidase ATP-dependent, proteolytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "Endopeptidase Clp",
                    "type": "synonym"
                },
                {
                    "name": "endopeptidase Clp",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-dependent Clp protease proteolytic subunit, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLPP",
                    "type": "recommended"
                },
                {
                    "name": "CLPP",
                    "type": "synonym"
                },
                {
                    "name": "DFNB81",
                    "type": "synonym"
                },
                {
                    "name": "PRLTS3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16740-1",
            "evidence": [
                {
                    "id": "0060063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060063"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060063"
}