{
    "disease_id": "DOID:0111044",
    "recommended_name": {
        "id": "DOID:0111044",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111044",
        "name": "gray platelet syndrome",
        "description": "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0111044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "name": "BDPLT4",
            "description": ""
        },
        {
            "id": "DOID:0111044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "name": "GPS",
            "description": ""
        },
        {
            "id": "DOID:0111044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "name": "platelet alpha-granule deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "name": "platelet-type bleeding disorder 4",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "gray platelet syndrome",
            "description": "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear."
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "Alpha storage pool deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "BDPLT4",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "GPS",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "gray platelet syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "platelet alpha-granule deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins",
            "description": ""
        },
        {
            "id": "MIM:139090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/139090",
            "name": "Gray platelet syndrome",
            "description": "Gray platelet syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111044"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111044",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "categories": []
        },
        {
            "id": "MONDO:0007686",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "categories": []
        },
        {
            "id": "MIM:139090",
            "database": "MIM",
            "url": "https://www.omim.org/entry/139090",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FBX7-1",
            "uniprot_ac": "E7FBX7",
            "uniprot_id": "E7FBX7_DANRE",
            "refseq_ac": "XP_005161190",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein Gfi-1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gfi1b",
                    "type": "recommended"
                },
                {
                    "name": "gfi1b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-231o6.2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FBX7-1",
            "evidence": [
                {
                    "id": "0111044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FAW3-1",
            "uniprot_ac": "E7FAW3",
            "uniprot_id": "NBEL2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurobeachin-like protein 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "nbeal2",
                    "type": "recommended"
                }
            ],
            "record_id": "E7FAW3-1",
            "evidence": [
                {
                    "id": "0111044",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZQA0-1",
            "uniprot_ac": "Q6ZQA0",
            "uniprot_id": "NBEL2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurobeachin-like protein 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Nbeal2",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0540",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZQA0-1",
            "evidence": [
                {
                    "id": "0111044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70237-1",
            "uniprot_ac": "O70237",
            "uniprot_id": "GFI1B_MOUSE",
            "refseq_ac": "NP_032140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein Gfi-1b",
                    "type": "recommended"
                },
                {
                    "name": "Growth factor independent protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1b isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfi1b",
                    "type": "recommended"
                },
                {
                    "name": "Gfi-1B",
                    "type": "synonym"
                },
                {
                    "name": "Gfi1b",
                    "type": "synonym"
                }
            ],
            "record_id": "O70237-1",
            "evidence": [
                {
                    "id": "0111044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZNJ1-1",
            "uniprot_ac": "Q6ZNJ1",
            "uniprot_id": "NBEL2_HUMAN",
            "refseq_ac": "NP_055990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurobeachin-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "neurobeachin-like protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neurobeachin-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NBEAL2",
                    "type": "recommended"
                },
                {
                    "name": "BDPLT4",
                    "type": "synonym"
                },
                {
                    "name": "GPS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0540",
                    "type": "synonym"
                },
                {
                    "name": "NBEAL2",
                    "type": "synonym"
                },
                {
                    "name": "PRO290",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZNJ1-1",
            "evidence": [
                {
                    "id": "139090",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/139090"
                },
                {
                    "id": "0111044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8XL46-1",
            "uniprot_ac": "A0A8J8XL46",
            "uniprot_id": "A0A8J8XL46_RAT",
            "refseq_ac": "XP_006233851",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth factor independent 1B transcriptional repressor",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfi1b",
                    "type": "recommended"
                },
                {
                    "name": "Gfi1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8J8XL46-1",
            "evidence": [
                {
                    "id": "0111044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A0G8-1",
            "uniprot_ac": "A0A8I6A0G8",
            "uniprot_id": "A0A8I6A0G8_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": "Neurobeachin-like protein 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Nbeal2",
                    "type": "recommended"
                },
                {
                    "name": "Nbeal2-ps1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A0G8-1",
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                {
                    "id": "0111044",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM77-1",
            "uniprot_ac": "Q9VM77",
            "uniprot_id": "Q9VM77_DROME",
            "refseq_ac": "NP_001285692",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31632-PB",
                    "type": "synonym"
                },
                {
                    "name": "Senseless-2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Senseless-2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sens-2-PB",
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                {
                    "name": "senseless-2, isoform B",
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                }
            ],
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                    "name": "sens-2",
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                    "name": "CG11243",
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                },
                {
                    "name": "CG17373",
                    "type": "synonym"
                },
                {
                    "name": "CG31632",
                    "type": "synonym"
                },
                {
                    "name": "D.m Sens-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31632",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31632",
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                    "name": "Sens-2",
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                    "name": "sens-2",
                    "type": "synonym"
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                {
                    "name": "sens2",
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                {
                    "id": "0111044",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9MRV7-1",
            "uniprot_ac": "M9MRV7",
            "uniprot_id": "M9MRV7_DROME",
            "refseq_ac": "NP_001189048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Neurobeachin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG43367-PC",
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                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG1295",
                    "type": "recommended"
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                    "name": "CG1295",
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                },
                {
                    "name": "CG1308",
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                },
                {
                    "name": "CG1332",
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                },
                {
                    "name": "CG43367",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43367",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG43367",
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            ],
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                {
                    "id": "0111044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VTD9-1",
            "uniprot_ac": "Q5VTD9",
            "uniprot_id": "GFI1B_HUMAN",
            "refseq_ac": "NP_001128503",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein Gfi-1b",
                    "type": "recommended"
                },
                {
                    "name": "Growth factor independent protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "Potential regulator of CDKN1A translocated in CML",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent 1B transcription repressor",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1b isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GFI1B",
                    "type": "recommended"
                },
                {
                    "name": "BDPLT17",
                    "type": "synonym"
                },
                {
                    "name": "GFI1B",
                    "type": "synonym"
                },
                {
                    "name": "ZNF163B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VTD9-1",
            "evidence": [
                {
                    "id": "0111044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111044"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111044"
}