{
    "disease_id": "DOID:0090016",
    "recommended_name": {
        "id": "DOID:0090016",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090016",
        "name": "chromosome 5q deletion syndrome",
        "description": "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q."
    },
    "synonyms": [
        {
            "id": "DOID:0090016",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090016",
            "name": "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality",
            "description": ""
        },
        {
            "id": "DOID:0090016",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090016",
            "name": "5q- syndrome, refractory macrocytic anemia due to 5q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome associated with isolated del(5q)",
            "description": "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)"
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5Q minus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5Q- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5q- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5q- syndrome, refractory macrocytic anaemia due to 5q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "chromosome 5q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "macrocytic anemia, refractory, due to 5q deletion, somatic",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome with 5q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome with isolated del(5q)",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5q syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "MAR",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "refractory macrocytic anaemia due to 5q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "refractory macrocytic anemia due to 5q deletion",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090016"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090016",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090016",
            "categories": []
        },
        {
            "id": "MONDO:0007925",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90XE6-1",
            "uniprot_ac": "Q90XE6",
            "uniprot_id": "KLF1_DANRE",
            "refseq_ac": "NP_571011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kruppel-like factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor d",
                    "type": "synonym"
                },
                {
                    "name": "erythroid krueppel-like transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "klf1",
                    "type": "recommended"
                },
                {
                    "name": "eklf",
                    "type": "synonym"
                },
                {
                    "name": "klf1",
                    "type": "synonym"
                },
                {
                    "name": "klfd",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194069",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90XE6-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62264-1",
            "uniprot_ac": "P62264",
            "uniprot_id": "RS14_MOUSE",
            "refseq_ac": "NP_065625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS11",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S14",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps14",
                    "type": "recommended"
                },
                {
                    "name": "2600014J02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rps14",
                    "type": "synonym"
                }
            ],
            "record_id": "P62264-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46099-1",
            "uniprot_ac": "P46099",
            "uniprot_id": "KLF1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Krueppel-like factor 1",
                    "type": "recommended"
                },
                {
                    "name": "EKLF",
                    "type": "synonym"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klf1",
                    "type": "recommended"
                },
                {
                    "name": "Elkf",
                    "type": "synonym"
                }
            ],
            "record_id": "P46099-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39516-1",
            "uniprot_ac": "P39516",
            "uniprot_id": "RS14B_YEAST",
            "refseq_ac": "NP_012344",
            "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": "Small ribosomal subunit protein uS11B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S14-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein uS11 RPS14B",
                    "type": "synonym"
                },
                {
                    "name": "RP59B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS14B",
                    "type": "recommended"
                },
                {
                    "name": "CRY2",
                    "type": "synonym"
                },
                {
                    "name": "J0354",
                    "type": "synonym"
                },
                {
                    "name": "RPS14B",
                    "type": "synonym"
                }
            ],
            "record_id": "P39516-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06367-1",
            "uniprot_ac": "P06367",
            "uniprot_id": "RS14A_YEAST",
            "refseq_ac": "NP_009960",
            "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": "Small ribosomal subunit protein uS11A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S14-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein uS11 RPS14A",
                    "type": "synonym"
                },
                {
                    "name": "RP59A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS14A",
                    "type": "recommended"
                },
                {
                    "name": "CRY1",
                    "type": "synonym"
                },
                {
                    "name": "RPL59",
                    "type": "synonym"
                },
                {
                    "name": "RPS14A",
                    "type": "synonym"
                },
                {
                    "name": "YCR31C",
                    "type": "synonym"
                }
            ],
            "record_id": "P06367-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13471-1",
            "uniprot_ac": "P13471",
            "uniprot_id": "RS14_RAT",
            "refseq_ac": "NP_073163",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS11",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S14",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps14",
                    "type": "recommended"
                },
                {
                    "name": "Rps14",
                    "type": "synonym"
                }
            ],
            "record_id": "P13471-1",
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                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A290-1",
            "uniprot_ac": "D4A290",
            "uniprot_id": "D4A290_RAT",
            "refseq_ac": "XP_038962486",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS11",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S14",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS11-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC120101650",
                    "type": "recommended"
                },
                {
                    "name": "LOC120101650",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A290-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6F3-1",
            "uniprot_ac": "G3V6F3",
            "uniprot_id": "G3V6F3_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": "KLF transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klf1",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V6F3-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "C0HKA0-1",
            "uniprot_ac": "C0HKA0",
            "uniprot_id": "RS14A_DROME",
            "refseq_ac": "NP_524884",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS11A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S14a",
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                },
                {
                    "name": "40S ribosomal protein S14",
                    "type": "synonym"
                },
                {
                    "name": "CG1524-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpS14a-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S14a, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS14a",
                    "type": "recommended"
                },
                {
                    "name": "CG1524",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1524",
                    "type": "synonym"
                },
                {
                    "name": "RPS14A",
                    "type": "synonym"
                },
                {
                    "name": "Rp S14a",
                    "type": "synonym"
                },
                {
                    "name": "RpS14A",
                    "type": "synonym"
                },
                {
                    "name": "RpS14a",
                    "type": "synonym"
                },
                {
                    "name": "RpS14",
                    "type": "synonym"
                },
                {
                    "name": "S11",
                    "type": "synonym"
                },
                {
                    "name": "S14a",
                    "type": "synonym"
                },
                {
                    "name": "S14",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey115",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey131",
                    "type": "synonym"
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                {
                    "name": "anon-EST:Posey154",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey77",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.136",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.138",
                    "type": "synonym"
                },
                {
                    "name": "rpS14A",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "C0HKA1-1",
            "uniprot_ac": "C0HKA1",
            "uniprot_id": "RS14B_DROME",
            "refseq_ac": "NP_001284995",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS11B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S14b",
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                    "name": "CG1527-PB",
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                },
                {
                    "name": "RpS14b-PB",
                    "type": "synonym"
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                {
                    "name": "ribosomal protein S14b, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "RpS14b",
                    "type": "recommended"
                },
                {
                    "name": "CG1527",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1527",
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                {
                    "name": "Dmel_CG1527",
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                {
                    "name": "RPS14B",
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                },
                {
                    "name": "RpS14B",
                    "type": "synonym"
                },
                {
                    "name": "RpS14b",
                    "type": "synonym"
                },
                {
                    "name": "RpS14",
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                {
                    "name": "S11",
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                },
                {
                    "name": "S14b",
                    "type": "synonym"
                },
                {
                    "name": "S14",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey115",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey131",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey154",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey77",
                    "type": "synonym"
                },
                {
                    "name": "rpS14B",
                    "type": "synonym"
                }
            ],
            "record_id": "C0HKA1-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13351-1",
            "uniprot_ac": "Q13351",
            "uniprot_id": "KLF1_HUMAN",
            "refseq_ac": "NP_006554",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Krueppel-like factor 1",
                    "type": "recommended"
                },
                {
                    "name": "EKLF",
                    "type": "synonym"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "erythroid Kruppel-like factor",
                    "type": "synonym"
                },
                {
                    "name": "erythroid krueppel-like transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "erythroid-specific transcription factor EKLF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLF1",
                    "type": "recommended"
                },
                {
                    "name": "CDAN4A",
                    "type": "synonym"
                },
                {
                    "name": "CDAN4B",
                    "type": "synonym"
                },
                {
                    "name": "EKLF/KLF1",
                    "type": "synonym"
                },
                {
                    "name": "EKLF",
                    "type": "synonym"
                },
                {
                    "name": "KLF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13351-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62263-1",
            "uniprot_ac": "P62263",
            "uniprot_id": "RS14_HUMAN",
            "refseq_ac": "NP_001020241",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS11",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S14",
                    "type": "synonym"
                },
                {
                    "name": "emetine resistance",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS14",
                    "type": "recommended"
                },
                {
                    "name": "EMTB",
                    "type": "synonym"
                },
                {
                    "name": "PRO2640",
                    "type": "synonym"
                },
                {
                    "name": "RPS14",
                    "type": "synonym"
                },
                {
                    "name": "S14",
                    "type": "synonym"
                },
                {
                    "name": "uS11",
                    "type": "synonym"
                }
            ],
            "record_id": "P62263-1",
            "evidence": [
                {
                    "id": "0090016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090016"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090016"
}