{
    "disease_id": "DOID:0111051",
    "recommended_name": {
        "id": "DOID:0111051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111051",
        "name": "platelet-type bleeding disorder 18",
        "description": "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111051",
            "name": "BDPLT18",
            "description": ""
        },
        {
            "id": "DOID:0111051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111051",
            "name": "bleeding disorder due to CalDAG-GEFI deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111051",
            "name": "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "name": "platelet-type bleeding disorder 18",
            "description": "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported."
        },
        {
            "id": "MONDO:0014386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "name": "BDPLT18",
            "description": ""
        },
        {
            "id": "MONDO:0014386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "name": "RASGRP2 inherited bleeding disorder, platelet-type",
            "description": ""
        },
        {
            "id": "MONDO:0014386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "name": "bleeding disorder due to CalDAG-GEFI deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "name": "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "name": "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2",
            "description": ""
        },
        {
            "id": "MONDO:0014386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "name": "platelet-type bleeding disorder 18",
            "description": ""
        },
        {
            "id": "MONDO:0014386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "name": "bleeding disorder, platelet-type, 18",
            "description": ""
        },
        {
            "id": "MIM:615888",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615888",
            "name": "Bleeding disorder, platelet-type, 18",
            "description": "Bleeding disorder, platelet-type, 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111051"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111051",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111051",
            "categories": []
        },
        {
            "id": "MONDO:0014386",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014386",
            "categories": []
        },
        {
            "id": "MIM:615888",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615888",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TAP0-1",
            "uniprot_ac": "A0A8N7TAP0",
            "uniprot_id": "A0A8N7TAP0_DANRE",
            "refseq_ac": "XP_685135",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAS guanyl-releasing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rasgrp2",
                    "type": "recommended"
                },
                {
                    "name": "rasgrp2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TAP0-1",
            "evidence": [
                {
                    "id": "0111051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QUG9-1",
            "uniprot_ac": "Q9QUG9",
            "uniprot_id": "GRP2_MOUSE",
            "refseq_ac": "NP_035372",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAS guanyl-releasing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CalDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "Calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "F25B3.3 kinase like protein",
                    "type": "synonym"
                },
                {
                    "name": "F25B3.3 kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "RAP 1A protein-specific guanine nucleotide exchange factor 1",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl-releasing protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rasgrp2",
                    "type": "recommended"
                },
                {
                    "name": "CDC25L",
                    "type": "synonym"
                },
                {
                    "name": "CalDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "Caldaggef1",
                    "type": "synonym"
                },
                {
                    "name": "Rasgrp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QUG9-1",
            "evidence": [
                {
                    "id": "0111051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7LDG7-1",
            "uniprot_ac": "Q7LDG7",
            "uniprot_id": "GRP2_HUMAN",
            "refseq_ac": "NP_001092140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAS guanyl-releasing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CalDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "Calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "Cdc25-like protein",
                    "type": "synonym"
                },
                {
                    "name": "F25B3.3 kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl nucleotide-releasing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl releasing protein 2 (calcium and DAG-regulated)",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl-releasing protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "calcium and diacylglycerol-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "cdc25-like protein",
                    "type": "synonym"
                },
                {
                    "name": "guanine exchange factor MCG7",
                    "type": "synonym"
                },
                {
                    "name": "hCDC25L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RASGRP2",
                    "type": "recommended"
                },
                {
                    "name": "CALDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "CDC25L",
                    "type": "synonym"
                },
                {
                    "name": "MCG7",
                    "type": "synonym"
                },
                {
                    "name": "RASGRP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7LDG7-1",
            "evidence": [
                {
                    "id": "615888",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615888"
                },
                {
                    "id": "0111051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07866-1",
            "uniprot_ac": "P07866",
            "uniprot_id": "LTE1_YEAST",
            "refseq_ac": "NP_009378",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide exchange factor LTE1",
                    "type": "recommended"
                },
                {
                    "name": "Low temperature essential protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic regulator LTE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LTE1",
                    "type": "recommended"
                },
                {
                    "name": "EIS4",
                    "type": "synonym"
                },
                {
                    "name": "LTE1",
                    "type": "synonym"
                },
                {
                    "name": "MSI2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07866-1",
            "evidence": [
                {
                    "id": "0111051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A0A6-1",
            "uniprot_ac": "D4A0A6",
            "uniprot_id": "D4A0A6_RAT",
            "refseq_ac": "NP_001000973",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 1609",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr1609",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr1609",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or4k6",
                    "type": "recommended"
                },
                {
                    "name": "Olr1609",
                    "type": "synonym"
                },
                {
                    "name": "Or4k6",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A0A6-1",
            "evidence": [
                {
                    "id": "0111051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C643-1",
            "uniprot_ac": "P0C643",
            "uniprot_id": "GRP2_RAT",
            "refseq_ac": "NP_001076446",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAS guanyl-releasing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CalDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "Calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl releasing protein 2 (calcium and DAG-regulated)",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl-releasing protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "calDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rasgrp2",
                    "type": "recommended"
                },
                {
                    "name": "Rasgrp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C643-1",
            "evidence": [
                {
                    "id": "0111051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111051"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111051"
}