{
    "disease_id": "DOID:0111980",
    "recommended_name": {
        "id": "DOID:0111980",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111980",
        "name": "immunodeficiency 64",
        "description": "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0111980",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111980",
            "name": "IMD64",
            "description": ""
        },
        {
            "id": "MONDO:0032803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032803",
            "name": "immunodeficiency 64",
            "description": ""
        },
        {
            "id": "MONDO:0032803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032803",
            "name": "IMD64",
            "description": ""
        },
        {
            "id": "MIM:618534",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618534",
            "name": "Immunodeficiency 64 with lymphoproliferation",
            "description": "Immunodeficiency 64 with lymphoproliferation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111980"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111980",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111980",
            "categories": []
        },
        {
            "id": "MONDO:0032803",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032803",
            "categories": []
        },
        {
            "id": "MIM:618534",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618534",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z1S3-1",
            "uniprot_ac": "Q9Z1S3",
            "uniprot_id": "GRP1_MOUSE",
            "refseq_ac": "NP_035376",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "CalDAG-GEFII",
                    "type": "synonym"
                },
                {
                    "name": "Calcium and DAG-regulated guanine nucleotide exchange factor II",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl-releasing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ras guanyl-releasing protein",
                    "type": "synonym"
                },
                {
                    "name": "calcium and DAG-regulated guanine nucleotide exchange factor II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rasgrp1",
                    "type": "recommended"
                },
                {
                    "name": "Rasgrp1",
                    "type": "synonym"
                },
                {
                    "name": "Rasgrp",
                    "type": "synonym"
                },
                {
                    "name": "calDAG-GEFII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1S3-1",
            "evidence": [
                {
                    "id": "0111980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95267-1",
            "uniprot_ac": "O95267",
            "uniprot_id": "GRP1_HUMAN",
            "refseq_ac": "NP_001122074",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAS guanyl-releasing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CalDAG-GEFII",
                    "type": "synonym"
                },
                {
                    "name": "Calcium and DAG-regulated guanine nucleotide exchange factor II",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl nucleotide-releasing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl releasing protein 1 (calcium and DAG-regulated)",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl-releasing protein 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Ras guanyl-releasing protein",
                    "type": "synonym"
                },
                {
                    "name": "calcium and DAG-regulated guanine nucleotide exchange factor II",
                    "type": "synonym"
                },
                {
                    "name": "calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor, calcium- and DAG-regulated, Rap1A",
                    "type": "synonym"
                },
                {
                    "name": "ras activator RasGRP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RASGRP1",
                    "type": "recommended"
                },
                {
                    "name": "CALDAG-GEFII",
                    "type": "synonym"
                },
                {
                    "name": "CALDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "IMD64",
                    "type": "synonym"
                },
                {
                    "name": "RASGRP1",
                    "type": "synonym"
                },
                {
                    "name": "RASGRP",
                    "type": "synonym"
                }
            ],
            "record_id": "O95267-1",
            "evidence": [
                {
                    "id": "618534",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618534"
                },
                {
                    "id": "0111980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111980"
                }
            ]
        },
        {
            "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": "0111980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1K8-1",
            "uniprot_ac": "Q9R1K8",
            "uniprot_id": "GRP1_RAT",
            "refseq_ac": "NP_062084",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "CalDAG-GEF1",
                    "type": "synonym"
                },
                {
                    "name": "CalDAG-GEFII",
                    "type": "synonym"
                },
                {
                    "name": "Calcium and DAG-regulated guanine nucleotide exchange factor II",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl releasing protein 1 (calcium and DAG-regulated)",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl-releasing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ras guanyl-releasing protein",
                    "type": "synonym"
                },
                {
                    "name": "calDAG-GEFII",
                    "type": "synonym"
                },
                {
                    "name": "calcium and DAG-regulated guanine nucleotide exchange factor II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rasgrp1",
                    "type": "recommended"
                },
                {
                    "name": "Rasgrp1",
                    "type": "synonym"
                },
                {
                    "name": "Rasgrp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1K8-1",
            "evidence": [
                {
                    "id": "0111980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00254-1",
            "uniprot_ac": "O00254",
            "uniprot_id": "PAR3_HUMAN",
            "refseq_ac": "NP_001243495",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteinase-activated receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "Coagulation factor II receptor-like 2 (protease-actovated receptor 3)",
                    "type": "synonym"
                },
                {
                    "name": "Coagulation factor II receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "PAR-3",
                    "type": "synonym"
                },
                {
                    "name": "Thrombin receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "protease-activated receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "proteinase-activated receptor 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "proteinase-activated receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "thrombin receptor-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F2RL2",
                    "type": "recommended"
                },
                {
                    "name": "F2RL2",
                    "type": "synonym"
                },
                {
                    "name": "PAR-3",
                    "type": "synonym"
                },
                {
                    "name": "PAR3",
                    "type": "synonym"
                }
            ],
            "record_id": "O00254-1",
            "evidence": [
                {
                    "id": "0111980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111980"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111980"
}