{
    "disease_id": "DOID:0080206",
    "recommended_name": {
        "id": "DOID:0080206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080206",
        "name": "congenital anomalies of the kidney and urinary tract 1",
        "description": "A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0080206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080206",
            "name": "CAKUT1",
            "description": ""
        },
        {
            "id": "DOID:0080206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080206",
            "name": "congenital anomalies of kidney and urinary tract 1",
            "description": ""
        },
        {
            "id": "MONDO:0012561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012561",
            "name": "congenital anomalies of kidney and urinary tract 1",
            "description": "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene."
        },
        {
            "id": "MONDO:0012561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012561",
            "name": "CAKUT1",
            "description": ""
        },
        {
            "id": "MONDO:0012561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012561",
            "name": "DSTYK congenital anomaly of kidney and urinary tract",
            "description": ""
        },
        {
            "id": "MONDO:0012561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012561",
            "name": "congenital anomalies of kidney and urinary tract 1",
            "description": ""
        },
        {
            "id": "MONDO:0012561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012561",
            "name": "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK",
            "description": ""
        },
        {
            "id": "MONDO:0012561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012561",
            "name": "renal hypodysplasia, nonsyndromic, 1",
            "description": ""
        },
        {
            "id": "MIM:610805",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610805",
            "name": "Congenital anomalies of the kidney and urinary tract 1",
            "description": "Congenital anomalies of the kidney and urinary tract 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080206"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080206",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080206",
            "categories": []
        },
        {
            "id": "MONDO:0012561",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012561",
            "categories": []
        },
        {
            "id": "MIM:610805",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610805",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4VSN1-1",
            "uniprot_ac": "Q4VSN1",
            "uniprot_id": "DUSTY_DANRE",
            "refseq_ac": "NP_991190",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual serine/threonine and tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "Dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "dual serine/threonine and tyrosine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "receptor interacting protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dstyk",
                    "type": "recommended"
                },
                {
                    "name": "dstyk",
                    "type": "synonym"
                },
                {
                    "name": "ripk5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136421",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4VSN1-1",
            "evidence": [
                {
                    "id": "0080206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XUX1-1",
            "uniprot_ac": "Q6XUX1",
            "uniprot_id": "DUSTY_MOUSE",
            "refseq_ac": "NP_766104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual serine/threonine and tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "Dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "dual serine/threonine and tyrosine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "receptor interacting protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dstyk",
                    "type": "recommended"
                },
                {
                    "name": "A930019K20Rik",
                    "type": "synonym"
                },
                {
                    "name": "C430014H23Rik",
                    "type": "synonym"
                },
                {
                    "name": "C820013G01",
                    "type": "synonym"
                },
                {
                    "name": "Dstyk",
                    "type": "synonym"
                },
                {
                    "name": "Ripk5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XUX1-1",
            "evidence": [
                {
                    "id": "0080206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XUX3-1",
            "uniprot_ac": "Q6XUX3",
            "uniprot_id": "DUSTY_HUMAN",
            "refseq_ac": "NP_056190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual serine/threonine and tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "Dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "RIP-homologous kinase",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "SgK496",
                    "type": "synonym"
                },
                {
                    "name": "Sugen kinase 496",
                    "type": "synonym"
                },
                {
                    "name": "dual serine/threonine and tyrosine protein kinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "sgK496",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 23 (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "sugen kinase 496",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSTYK",
                    "type": "recommended"
                },
                {
                    "name": "CAKUT1",
                    "type": "synonym"
                },
                {
                    "name": "DSTYK",
                    "type": "synonym"
                },
                {
                    "name": "DustyPK",
                    "type": "synonym"
                },
                {
                    "name": "HDCMD38P",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0472",
                    "type": "synonym"
                },
                {
                    "name": "RHDNS1",
                    "type": "synonym"
                },
                {
                    "name": "RIP5",
                    "type": "synonym"
                },
                {
                    "name": "RIPK5",
                    "type": "synonym"
                },
                {
                    "name": "SGK496",
                    "type": "synonym"
                },
                {
                    "name": "SPG23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XUX3-1",
            "evidence": [
                {
                    "id": "610805",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610805"
                },
                {
                    "id": "0080206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XUX2-1",
            "uniprot_ac": "Q6XUX2",
            "uniprot_id": "DUSTY_RAT",
            "refseq_ac": "NP_955750",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual serine/threonine and tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "Dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "dual serine/threonine and tyrosine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "receptor interacting protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dstyk",
                    "type": "recommended"
                },
                {
                    "name": "Dstyk",
                    "type": "synonym"
                },
                {
                    "name": "DustyPK",
                    "type": "synonym"
                },
                {
                    "name": "Ripk5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XUX2-1",
            "evidence": [
                {
                    "id": "0080206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080206"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080206"
}