{
    "disease_id": "DOID:0061234",
    "recommended_name": {
        "id": "DOID:0061234",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061234",
        "name": "brain small vessel disease 4",
        "description": "A brain small vessel disease characterized by schemic and/or hemorrhagic events in the brain that result in neurologic symptoms and deficits, progressive movement disorders, gait abnormalities, dysarthria, and cognitive decline that has_material_basis_in homozygous or compound heterozygous mutation in the NIT1 gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0979873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979873",
            "name": "brain small vessel disease 4",
            "description": ""
        },
        {
            "id": "MIM:621313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621313",
            "name": "Brain small vessel disease 4",
            "description": "Brain small vessel disease 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061234"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061234",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061234",
            "categories": []
        },
        {
            "id": "MONDO:0979873",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979873",
            "categories": []
        },
        {
            "id": "MIM:621313",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621313",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TTV2-1",
            "uniprot_ac": "A0AB32TTV2",
            "uniprot_id": "A0AB32TTV2_DANRE",
            "refseq_ac": "NP_001004638",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deaminated glutathione amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.128",
                    "type": "synonym"
                },
                {
                    "name": "Nitrilase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "deaminated glutathione amidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nit1",
                    "type": "recommended"
                },
                {
                    "name": "nit1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101630",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TTV2-1",
            "evidence": [
                {
                    "id": "0061234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDK1-1",
            "uniprot_ac": "Q8VDK1",
            "uniprot_id": "NIT1_MOUSE",
            "refseq_ac": "NP_001229509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deaminated glutathione amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.128",
                    "type": "synonym"
                },
                {
                    "name": "Nitrilase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dGSH amidase",
                    "type": "synonym"
                },
                {
                    "name": "deaminated glutathione amidase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "deaminated glutathione amidase",
                    "type": "synonym"
                },
                {
                    "name": "nitrilase homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nit1",
                    "type": "recommended"
                },
                {
                    "name": "ESTM30",
                    "type": "synonym"
                },
                {
                    "name": "Nit1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDK1-1",
            "evidence": [
                {
                    "id": "0061234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86X76-1",
            "uniprot_ac": "Q86X76",
            "uniprot_id": "NIT1_HUMAN",
            "refseq_ac": "NP_001172021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deaminated glutathione amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.128",
                    "type": "synonym"
                },
                {
                    "name": "Nitrilase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dGSH amidase",
                    "type": "synonym"
                },
                {
                    "name": "deaminated glutathione amidase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "deaminated glutathione amidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NIT1",
                    "type": "recommended"
                },
                {
                    "name": "BSVD4",
                    "type": "synonym"
                },
                {
                    "name": "NIT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86X76-1",
            "evidence": [
                {
                    "id": "621313",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621313"
                },
                {
                    "id": "0061234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47016-1",
            "uniprot_ac": "P47016",
            "uniprot_id": "NIT2_YEAST",
            "refseq_ac": "NP_012409",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deaminated glutathione amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.128",
                    "type": "synonym"
                },
                {
                    "name": "Nitrilase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dGSH amidase",
                    "type": "synonym"
                },
                {
                    "name": "putative hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NIT2",
                    "type": "recommended"
                },
                {
                    "name": "J0706",
                    "type": "synonym"
                },
                {
                    "name": "NIT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P47016-1",
            "evidence": [
                {
                    "id": "0061234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TQ94-1",
            "uniprot_ac": "Q7TQ94",
            "uniprot_id": "NIT1_RAT",
            "refseq_ac": "NP_001076049",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deaminated glutathione amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.128",
                    "type": "synonym"
                },
                {
                    "name": "Nitrilase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dGSH amidase",
                    "type": "synonym"
                },
                {
                    "name": "deaminated glutathione amidase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "deaminated glutathione amidase",
                    "type": "synonym"
                },
                {
                    "name": "nitrilase homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nit1",
                    "type": "recommended"
                },
                {
                    "name": "Nit1",
                    "type": "synonym"
                },
                {
                    "name": "rCG_20134",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TQ94-1",
            "evidence": [
                {
                    "id": "0061234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76464-1",
            "uniprot_ac": "O76464",
            "uniprot_id": "NFT1_DROME",
            "refseq_ac": "NP_525122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nitrilase and fragile histidine triad fusion protein NitFhit",
                    "type": "recommended"
                },
                {
                    "name": "AP3A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "AP3Aase",
                    "type": "synonym"
                },
                {
                    "name": "CG7067-PA",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine 5',5'''-P1,P3-triphosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Dinucleosidetriphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "NFT-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "NitFhit-PA",
                    "type": "synonym"
                },
                {
                    "name": "NitFlit",
                    "type": "synonym"
                },
                {
                    "name": "nitrilase and fragile histidine triad fusion protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NitFhit",
                    "type": "recommended"
                },
                {
                    "name": "CG7067",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7067",
                    "type": "synonym"
                },
                {
                    "name": "NitFhit",
                    "type": "synonym"
                },
                {
                    "name": "dNitFhit",
                    "type": "synonym"
                }
            ],
            "record_id": "O76464-1",
            "evidence": [
                {
                    "id": "0061234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061234"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061234"
}