{
    "disease_id": "DOID:0061235",
    "recommended_name": {
        "id": "DOID:0061235",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061235",
        "name": "brain small vessel disease 5 with osteoporosis",
        "description": "A brain small vessel disease characterized by onset of neurologic symptoms in adulthood. Features include cognitive decline, psychiatric disturbances, osteoporosis with frequent fractures, and cerebral infarctions associated with brain imaging abnormalities, including lacunal infarcts, microbleeds, enlarged perivascular spaces, white matter abnormalities, and brain atrophy that has_material_basis_in heterozygous mutation in the ARHGEF15 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0979880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979880",
            "name": "brain small vessel disease 5 with osteoporosis",
            "description": ""
        },
        {
            "id": "MIM:621331",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621331",
            "name": "Brain small vessel disease 5 with osteoporosis",
            "description": "Brain small vessel disease 5 with osteoporosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061235"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061235",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061235",
            "categories": []
        },
        {
            "id": "MONDO:0979880",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979880",
            "categories": []
        },
        {
            "id": "MIM:621331",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621331",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z762-1",
            "uniprot_ac": "A0A8M6Z762",
            "uniprot_id": "A0A8M6Z762_DANRE",
            "refseq_ac": "XP_017211830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 15",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arhgef15a",
                    "type": "recommended"
                },
                {
                    "name": "arhgef15a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z762-1",
            "evidence": [
                {
                    "id": "0061235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FWH6-1",
            "uniprot_ac": "Q5FWH6",
            "uniprot_id": "ARHGF_MOUSE",
            "refseq_ac": "NP_808234",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 15",
                    "type": "recommended"
                },
                {
                    "name": "E5",
                    "type": "synonym"
                },
                {
                    "name": "Ephexin-5",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor (GEF) 15",
                    "type": "synonym"
                },
                {
                    "name": "ephexin-5",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 15 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef15",
                    "type": "recommended"
                },
                {
                    "name": "Arhgef15",
                    "type": "synonym"
                },
                {
                    "name": "D130071N09",
                    "type": "synonym"
                },
                {
                    "name": "D530030K12Rik",
                    "type": "synonym"
                },
                {
                    "name": "E5",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0915",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FWH6-1",
            "evidence": [
                {
                    "id": "0061235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94989-1",
            "uniprot_ac": "O94989",
            "uniprot_id": "ARHGF_HUMAN",
            "refseq_ac": "NP_079290",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 15",
                    "type": "recommended"
                },
                {
                    "name": "E5",
                    "type": "synonym"
                },
                {
                    "name": "Ephexin-5",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor (GEF) 15",
                    "type": "synonym"
                },
                {
                    "name": "Vsm-RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "ephexin-5",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGEF15",
                    "type": "recommended"
                },
                {
                    "name": "ARGEF15",
                    "type": "synonym"
                },
                {
                    "name": "ARHGEF15",
                    "type": "synonym"
                },
                {
                    "name": "BSVD5",
                    "type": "synonym"
                },
                {
                    "name": "E5",
                    "type": "synonym"
                },
                {
                    "name": "Ephexin5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0915",
                    "type": "synonym"
                },
                {
                    "name": "Vsm-RhoGEF",
                    "type": "synonym"
                }
            ],
            "record_id": "O94989-1",
            "evidence": [
                {
                    "id": "621331",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621331"
                },
                {
                    "id": "0061235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JTU0-1",
            "uniprot_ac": "A0A0G2JTU0",
            "uniprot_id": "A0A0G2JTU0_RAT",
            "refseq_ac": "NP_001401224",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor (GEF) 15",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor 15",
                    "type": "synonym"
                },
                {
                    "name": "ephexin-5",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef15",
                    "type": "recommended"
                },
                {
                    "name": "Arhgef15",
                    "type": "synonym"
                },
                {
                    "name": "E5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JTU0-1",
            "evidence": [
                {
                    "id": "0061235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061235"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061235"
}