{
    "disease_id": "DOID:0061094",
    "recommended_name": {
        "id": "DOID:0061094",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061094",
        "name": "immunodeficiency 129",
        "description": "A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14."
    },
    "synonyms": [
        {
            "id": "MONDO:0032666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032666",
            "name": "epidermodysplasia verruciformis, susceptibility to, 4",
            "description": ""
        },
        {
            "id": "MONDO:0032666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032666",
            "name": "EV4",
            "description": ""
        },
        {
            "id": "MIM:618307",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618307",
            "name": "Immunodeficiency 129",
            "description": "Immunodeficiency 129"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061094"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061094",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061094",
            "categories": []
        },
        {
            "id": "MONDO:0032666",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032666",
            "categories": []
        },
        {
            "id": "MIM:618307",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618307",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R1D2-1",
            "uniprot_ac": "F1R1D2",
            "uniprot_id": "F1R1D2_DANRE",
            "refseq_ac": "NP_001314902",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related GTP-binding protein RhoH",
                    "type": "recommended"
                },
                {
                    "name": "ras homolog gene family, member H",
                    "type": "synonym"
                },
                {
                    "name": "ras-like protein Rhoh",
                    "type": "synonym"
                },
                {
                    "name": "rho-related GTP-binding protein RhoH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rhoh",
                    "type": "recommended"
                },
                {
                    "name": "rhoh",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R1D2-1",
            "evidence": [
                {
                    "id": "0061094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D3G9-1",
            "uniprot_ac": "Q9D3G9",
            "uniprot_id": "RHOH_MOUSE",
            "refseq_ac": "NP_001074574",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related GTP-binding protein RhoH",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras homolog gene family, member H",
                    "type": "synonym"
                },
                {
                    "name": "rho-related GTP-binding protein RhoH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhoh",
                    "type": "recommended"
                },
                {
                    "name": "5830400A04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arhh",
                    "type": "synonym"
                },
                {
                    "name": "Rhoh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D3G9-1",
            "evidence": [
                {
                    "id": "0061094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15669-1",
            "uniprot_ac": "Q15669",
            "uniprot_id": "RHOH_HUMAN",
            "refseq_ac": "NP_001265288",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related GTP-binding protein RhoH",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein TTF",
                    "type": "synonym"
                },
                {
                    "name": "TTF, translocation three four",
                    "type": "synonym"
                },
                {
                    "name": "Translocation three four protein",
                    "type": "synonym"
                },
                {
                    "name": "ras homolog gene family, member H",
                    "type": "synonym"
                },
                {
                    "name": "rho-related GTP-binding protein RhoH precursor",
                    "type": "synonym"
                },
                {
                    "name": "rho-related GTP-binding protein RhoH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RHOH",
                    "type": "recommended"
                },
                {
                    "name": "ARHH",
                    "type": "synonym"
                },
                {
                    "name": "IMD129",
                    "type": "synonym"
                },
                {
                    "name": "RHOH",
                    "type": "synonym"
                },
                {
                    "name": "TTF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15669-1",
            "evidence": [
                {
                    "id": "618307",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618307"
                },
                {
                    "id": "0061094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BJZ5-1",
            "uniprot_ac": "Q5BJZ5",
            "uniprot_id": "Q5BJZ5_RAT",
            "refseq_ac": "NP_001013448",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related GTP-binding protein RhoH",
                    "type": "recommended"
                },
                {
                    "name": "ras homolog gene family, member H",
                    "type": "synonym"
                },
                {
                    "name": "rho-related GTP-binding protein RhoH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhoh",
                    "type": "recommended"
                },
                {
                    "name": "Rhoh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BJZ5-1",
            "evidence": [
                {
                    "id": "0061094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061094"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061094"
}