{
    "disease_id": "DOID:0111883",
    "recommended_name": {
        "id": "DOID:0111883",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111883",
        "name": "Diamond-Blackfan anemia 5",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0111883",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111883",
            "name": "DBA5",
            "description": ""
        },
        {
            "id": "DOID:0111883",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111883",
            "name": "RPL35A-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "Diamond-Blackfan anemia 5",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene."
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "Diamond-Blackfan Anaemia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "Diamond-Blackfan Anemia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPL35A",
            "description": ""
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "Diamond-Blackfan anemia 5",
            "description": ""
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "Diamond-Blackfan anemia caused by mutation in RPL35A",
            "description": ""
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "RPL35A Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "RPL35A Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "name": "DBA5",
            "description": ""
        },
        {
            "id": "MIM:612528",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612528",
            "name": "Diamond-Blackfan anemia 5",
            "description": "Diamond-Blackfan anemia 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111883"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111883",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111883",
            "categories": []
        },
        {
            "id": "MONDO:0012925",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012925",
            "categories": []
        },
        {
            "id": "MIM:612528",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612528",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O55142-1",
            "uniprot_ac": "O55142",
            "uniprot_id": "RL35A_MOUSE",
            "refseq_ac": "NP_001123956",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL33",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35a",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl35a",
                    "type": "recommended"
                },
                {
                    "name": "2810431L15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35a",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35",
                    "type": "synonym"
                }
            ],
            "record_id": "O55142-1",
            "evidence": [
                {
                    "id": "0111883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18077-1",
            "uniprot_ac": "P18077",
            "uniprot_id": "RL35A_HUMAN",
            "refseq_ac": "NP_000987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL33",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35a",
                    "type": "synonym"
                },
                {
                    "name": "Cell growth-inhibiting gene 33 protein",
                    "type": "synonym"
                },
                {
                    "name": "cell growth-inhibiting gene 33 protein",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL35A",
                    "type": "recommended"
                },
                {
                    "name": "DBA5",
                    "type": "synonym"
                },
                {
                    "name": "GIG33",
                    "type": "synonym"
                },
                {
                    "name": "L35A",
                    "type": "synonym"
                },
                {
                    "name": "RPL35A",
                    "type": "synonym"
                },
                {
                    "name": "eL33",
                    "type": "synonym"
                }
            ],
            "record_id": "P18077-1",
            "evidence": [
                {
                    "id": "612528",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612528"
                },
                {
                    "id": "0111883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05744-1",
            "uniprot_ac": "P05744",
            "uniprot_id": "RL33A_YEAST",
            "refseq_ac": "NP_015182",
            "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": "Large ribosomal subunit protein eL33A",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L33-A",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL33 RPL33A",
                    "type": "synonym"
                },
                {
                    "name": "L37",
                    "type": "synonym"
                },
                {
                    "name": "RP47",
                    "type": "synonym"
                },
                {
                    "name": "YL37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL33A",
                    "type": "recommended"
                },
                {
                    "name": "GCD17",
                    "type": "synonym"
                },
                {
                    "name": "LPI4W",
                    "type": "synonym"
                },
                {
                    "name": "P2625",
                    "type": "synonym"
                },
                {
                    "name": "RPL33A",
                    "type": "synonym"
                },
                {
                    "name": "RPL37A",
                    "type": "synonym"
                }
            ],
            "record_id": "P05744-1",
            "evidence": [
                {
                    "id": "0111883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41056-1",
            "uniprot_ac": "P41056",
            "uniprot_id": "RL33B_YEAST",
            "refseq_ac": "NP_014877",
            "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": "Large ribosomal subunit protein eL33B",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L33-B",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL33 RPL33B",
                    "type": "synonym"
                },
                {
                    "name": "L37",
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                },
                {
                    "name": "RP47",
                    "type": "synonym"
                },
                {
                    "name": "YL37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL33B",
                    "type": "recommended"
                },
                {
                    "name": "O5224",
                    "type": "synonym"
                },
                {
                    "name": "RPL33B",
                    "type": "synonym"
                },
                {
                    "name": "RPL37B",
                    "type": "synonym"
                }
            ],
            "record_id": "P41056-1",
            "evidence": [
                {
                    "id": "0111883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8L2QJQ6-1",
            "uniprot_ac": "A0A8L2QJQ6",
            "uniprot_id": "A0A8L2QJQ6_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL33",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC134486984",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35al11",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35al2",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35al5",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35al6",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35al8",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35a",
                    "type": "recommended"
                },
                {
                    "name": "LOC103690996",
                    "type": "synonym"
                },
                {
                    "name": "LOC108348509",
                    "type": "synonym"
                },
                {
                    "name": "LOC108349835",
                    "type": "synonym"
                },
                {
                    "name": "LOC108350427",
                    "type": "synonym"
                },
                {
                    "name": "LOC108351058",
                    "type": "synonym"
                },
                {
                    "name": "LOC108351255",
                    "type": "synonym"
                },
                {
                    "name": "LOC108351377",
                    "type": "synonym"
                },
                {
                    "name": "LOC134486984",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35a-ps6",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35a-ps7",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35a-ps8",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35al1",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35al2",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35al5",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35al6",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35al7",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35al8",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35a",
                    "type": "synonym"
                },
                {
                    "name": "Rps35al1",
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                }
            ],
            "record_id": "A0A8L2QJQ6-1",
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                {
                    "id": "0111883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111883"
                }
            ]
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        {
            "uniprot_canonical_ac": "A0A8I6GLI9-1",
            "uniprot_ac": "A0A8I6GLI9",
            "uniprot_id": "A0A8I6GLI9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL33",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl35al10",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35al3",
                    "type": "recommended"
                },
                {
                    "name": "LOC108352207",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35al3",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35al7",
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                }
            ],
            "record_id": "A0A8I6GLI9-1",
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                {
                    "id": "0111883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNB9-1",
            "uniprot_ac": "Q9VNB9",
            "uniprot_id": "Q9VNB9_DROME",
            "refseq_ac": "NP_649539",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL33",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35a",
                    "type": "synonym"
                },
                {
                    "name": "CG2099-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpL35A-PA",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L35A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL35A",
                    "type": "recommended"
                },
                {
                    "name": "CG2099",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2099",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2099",
                    "type": "synonym"
                },
                {
                    "name": "L33e",
                    "type": "synonym"
                },
                {
                    "name": "L35a",
                    "type": "synonym"
                },
                {
                    "name": "Rp L35A",
                    "type": "synonym"
                },
                {
                    "name": "RpL35A",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35A",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNB9-1",
            "evidence": [
                {
                    "id": "0111883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111883"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111883"
}