{
    "disease_id": "DOID:0111886",
    "recommended_name": {
        "id": "DOID:0111886",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111886",
        "name": "Diamond-Blackfan anemia 19",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111886",
            "name": "DBA19",
            "description": ""
        },
        {
            "id": "DOID:0111886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111886",
            "name": "RPL35-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0032669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032669",
            "name": "Diamond-Blackfan anemia 19",
            "description": ""
        },
        {
            "id": "MONDO:0032669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032669",
            "name": "DBA19",
            "description": ""
        },
        {
            "id": "MIM:618312",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618312",
            "name": "Diamond-Blackfan anemia 19",
            "description": "Diamond-Blackfan anemia 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111886"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111886",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111886",
            "categories": []
        },
        {
            "id": "MONDO:0032669",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032669",
            "categories": []
        },
        {
            "id": "MIM:618312",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618312",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8JHJ1-1",
            "uniprot_ac": "Q8JHJ1",
            "uniprot_id": "RL35_DANRE",
            "refseq_ac": "NP_775340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL29",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpl35",
                    "type": "recommended"
                },
                {
                    "name": "CHUNP6863",
                    "type": "synonym"
                },
                {
                    "name": "rpl35",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JHJ1-1",
            "evidence": [
                {
                    "id": "0111886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZWV7-1",
            "uniprot_ac": "Q6ZWV7",
            "uniprot_id": "RL35_MOUSE",
            "refseq_ac": "NP_079868",
            "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 uL29",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl35",
                    "type": "recommended"
                },
                {
                    "name": "2410039E09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZWV7-1",
            "evidence": [
                {
                    "id": "0111886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42766-1",
            "uniprot_ac": "P42766",
            "uniprot_id": "RL35_HUMAN",
            "refseq_ac": "NP_009140",
            "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 uL29",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL35",
                    "type": "recommended"
                },
                {
                    "name": "DBA19",
                    "type": "synonym"
                },
                {
                    "name": "L35",
                    "type": "synonym"
                },
                {
                    "name": "RPL35",
                    "type": "synonym"
                },
                {
                    "name": "uL29",
                    "type": "synonym"
                }
            ],
            "record_id": "P42766-1",
            "evidence": [
                {
                    "id": "618312",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618312"
                },
                {
                    "id": "0111886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CX84-1",
            "uniprot_ac": "P0CX84",
            "uniprot_id": "RL35A_YEAST",
            "refseq_ac": "NP_010145",
            "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 uL29A",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35-A",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein uL29 RPL35A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL35A",
                    "type": "recommended"
                },
                {
                    "name": "D1249",
                    "type": "synonym"
                },
                {
                    "name": "RPL35A",
                    "type": "synonym"
                },
                {
                    "name": "SOS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CX84-1",
            "evidence": [
                {
                    "id": "0111886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CX85-1",
            "uniprot_ac": "P0CX85",
            "uniprot_id": "RL35B_YEAST",
            "refseq_ac": "NP_010090",
            "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 uL29B",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35-B",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein uL29 RPL35B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL35B",
                    "type": "recommended"
                },
                {
                    "name": "D2170",
                    "type": "synonym"
                },
                {
                    "name": "RPL35B",
                    "type": "synonym"
                },
                {
                    "name": "SOS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CX85-1",
            "evidence": [
                {
                    "id": "0111886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17078-1",
            "uniprot_ac": "P17078",
            "uniprot_id": "RL35_RAT",
            "refseq_ac": "NP_997676",
            "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 uL29",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC120093238",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35l1",
                    "type": "recommended"
                },
                {
                    "name": "Rpl35",
                    "type": "recommended"
                },
                {
                    "name": "AABR07031666.1",
                    "type": "synonym"
                },
                {
                    "name": "LOC120093238",
                    "type": "synonym"
                },
                {
                    "name": "LOC686074",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35l1",
                    "type": "synonym"
                },
                {
                    "name": "Rpl35",
                    "type": "synonym"
                }
            ],
            "record_id": "P17078-1",
            "evidence": [
                {
                    "id": "0111886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M6G3-1",
            "uniprot_ac": "F1M6G3",
            "uniprot_id": "F1M6G3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL29",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl35-ps8",
                    "type": "recommended"
                },
                {
                    "name": "RGD1562863",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M6G3-1",
            "evidence": [
                {
                    "id": "0111886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W499-1",
            "uniprot_ac": "Q9W499",
            "uniprot_id": "Q9W499_DROME",
            "refseq_ac": "NP_001284900",
            "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 uL29",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L35",
                    "type": "synonym"
                },
                {
                    "name": "CG4111-PC",
                    "type": "synonym"
                },
                {
                    "name": "RpL35-PC",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1C12",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L35, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL35",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE09547",
                    "type": "synonym"
                },
                {
                    "name": "CG4111",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4111",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4111",
                    "type": "synonym"
                },
                {
                    "name": "L29",
                    "type": "synonym"
                },
                {
                    "name": "Rp L35",
                    "type": "synonym"
                },
                {
                    "name": "RpL35e",
                    "type": "synonym"
                },
                {
                    "name": "RpL35",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey157",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1C12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W499-1",
            "evidence": [
                {
                    "id": "0111886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111886"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111886"
}
