{
    "disease_id": "DOID:0061233",
    "recommended_name": {
        "id": "DOID:0061233",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061233",
        "name": "autosomal recessive brain small vessel disease 2B",
        "description": "A brain small vessel disease characterized by the onset of neurologic abnormalities in infancy or the first years of life, including global developmental delay, impaired intellectual development with poor or absent speech, seizures, and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A2 gene on chromosome 13q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0980747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980747",
            "name": "brain small vessel disease 2B, autosomal recessive",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061233"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061233",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061233",
            "categories": []
        },
        {
            "id": "MONDO:0980747",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980747",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z838-1",
            "uniprot_ac": "A0A8M6Z838",
            "uniprot_id": "A0A8M6Z838_DANRE",
            "refseq_ac": "XP_068079648",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein col4a2",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein col4a2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col4a2",
                    "type": "recommended"
                },
                {
                    "name": "col4a2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z838-1",
            "evidence": [
                {
                    "id": "0061233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08122-1",
            "uniprot_ac": "P08122",
            "uniprot_id": "CO4A2_MOUSE",
            "refseq_ac": "NP_034062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "canstatin",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IV, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col4a2",
                    "type": "recommended"
                },
                {
                    "name": "Col4a-2",
                    "type": "synonym"
                },
                {
                    "name": "Col4a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P08122-1",
            "evidence": [
                {
                    "id": "0061233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08572-1",
            "uniprot_ac": "P08572",
            "uniprot_id": "CO4A2_HUMAN",
            "refseq_ac": "NP_001837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "canstatin",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IV) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IV) chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL4A2",
                    "type": "recommended"
                },
                {
                    "name": "BSVD2A",
                    "type": "synonym"
                },
                {
                    "name": "BSVD2B",
                    "type": "synonym"
                },
                {
                    "name": "BSVD2",
                    "type": "synonym"
                },
                {
                    "name": "COL4A2",
                    "type": "synonym"
                },
                {
                    "name": "ICH",
                    "type": "synonym"
                },
                {
                    "name": "POREN2",
                    "type": "synonym"
                }
            ],
            "record_id": "P08572-1",
            "evidence": [
                {
                    "id": "621414",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621414"
                },
                {
                    "id": "0061233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M6Q3-1",
            "uniprot_ac": "F1M6Q3",
            "uniprot_id": "F1M6Q3_RAT",
            "refseq_ac": "NP_001414185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen type IV alpha 2 chain",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 collagen type IV",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IV, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col4a2",
                    "type": "recommended"
                },
                {
                    "name": "Col4a2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M6Q3-1",
            "evidence": [
                {
                    "id": "0061233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62896-1",
            "uniprot_ac": "Q62896",
            "uniprot_id": "BET1_RAT",
            "refseq_ac": "NP_062124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BET1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "BET1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Golgi vesicular membrane-trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "golgi vesicular membrane trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "rBET1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bet1",
                    "type": "recommended"
                },
                {
                    "name": "Bet1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62896-1",
            "evidence": [
                {
                    "id": "0061233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08120-1",
            "uniprot_ac": "P08120",
            "uniprot_id": "CO4A1_DROME",
            "refseq_ac": "NP_723044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "CG4145-PA",
                    "type": "synonym"
                },
                {
                    "name": "Col4a1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Collagen type IV alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen IV alpha1",
                    "type": "synonym"
                },
                {
                    "name": "collagen IVa1",
                    "type": "synonym"
                },
                {
                    "name": "collagen IV",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IV alpha 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IV",
                    "type": "synonym"
                },
                {
                    "name": "collagenIV a1",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha3,5",
                    "type": "synonym"
                },
                {
                    "name": "preprocollagen alpha1(IV)",
                    "type": "synonym"
                },
                {
                    "name": "procollagen IV",
                    "type": "synonym"
                },
                {
                    "name": "type IV collagen, alpha-chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col4a1",
                    "type": "recommended"
                },
                {
                    "name": "CG25C",
                    "type": "synonym"
                },
                {
                    "name": "CG4145",
                    "type": "synonym"
                },
                {
                    "name": "COL4A1",
                    "type": "synonym"
                },
                {
                    "name": "CT12803",
                    "type": "synonym"
                },
                {
                    "name": "Cg25C",
                    "type": "synonym"
                },
                {
                    "name": "Cg25c",
                    "type": "synonym"
                },
                {
                    "name": "Cgc25C",
                    "type": "synonym"
                },
                {
                    "name": "Cgc25",
                    "type": "synonym"
                },
                {
                    "name": "Col IV alpha(1)",
                    "type": "synonym"
                },
                {
                    "name": "Col4A1",
                    "type": "synonym"
                },
                {
                    "name": "Col4a1",
                    "type": "synonym"
                },
                {
                    "name": "Col4alpha1",
                    "type": "synonym"
                },
                {
                    "name": "ColIValpha1",
                    "type": "synonym"
                },
                {
                    "name": "Coll IV",
                    "type": "synonym"
                },
                {
                    "name": "Coll",
                    "type": "synonym"
                },
                {
                    "name": "DCg1",
                    "type": "synonym"
                },
                {
                    "name": "Dcg-1",
                    "type": "synonym"
                },
                {
                    "name": "Dcg1",
                    "type": "synonym"
                },
                {
                    "name": "Dcg",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4145",
                    "type": "synonym"
                },
                {
                    "name": "alpha(IV)1/Cg25C",
                    "type": "synonym"
                },
                {
                    "name": "alpha1",
                    "type": "synonym"
                },
                {
                    "name": "cg25C",
                    "type": "synonym"
                },
                {
                    "name": "cg25c",
                    "type": "synonym"
                },
                {
                    "name": "col4a1",
                    "type": "synonym"
                },
                {
                    "name": "dcg1",
                    "type": "synonym"
                },
                {
                    "name": "gp125",
                    "type": "synonym"
                }
            ],
            "record_id": "P08120-1",
            "evidence": [
                {
                    "id": "0061233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061233"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061233"
}