{
    "disease_id": "DOID:0080265",
    "recommended_name": {
        "id": "DOID:0080265",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080265",
        "name": "RENI syndrome",
        "description": "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080265",
            "name": "nephrotic syndrome type 14",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "nephrotic syndrome 14",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "RENI syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "SPLIS",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "familial steroid-resistant nephrotic syndrome with adrenal insufficiency",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "nephrotic syndrome 14",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "nephrotic syndrome, type 14",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "renal, endocrine, neurologic and immune syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "sphingosine phosphate lyase insufficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0033203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "name": "NPHS14",
            "description": ""
        },
        {
            "id": "MIM:617575",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617575",
            "name": "RENI syndrome",
            "description": "RENI syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080265"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080265",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080265",
            "categories": []
        },
        {
            "id": "MONDO:0033203",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033203",
            "categories": []
        },
        {
            "id": "MIM:617575",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617575",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A2R8Q3N8",
            "uniprot_id": "A0A2R8Q3N8_DANRE",
            "refseq_ac": "XP_005156777",
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                {
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "sphinganine-1-phosphate aldolase",
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                    "name": "sgpl1",
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                },
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                    "name": "sgpl1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162153",
                    "type": "synonym"
                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080265"
                }
            ]
        },
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            "uniprot_ac": "Q8R0X7",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "type": "synonym"
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                    "name": "SP-lyase 1",
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                    "type": "synonym"
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                    "name": "Sphingosine-1-phosphate aldolase",
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                    "type": "synonym"
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                {
                    "name": "sphingosine-1-phosphate lyase 1",
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                {
                    "name": "Sgpl1",
                    "type": "recommended"
                },
                {
                    "name": "D10Xrf456",
                    "type": "synonym"
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                    "name": "S1PL",
                    "type": "synonym"
                },
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                    "name": "Sgpl1",
                    "type": "synonym"
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                {
                    "name": "Spl",
                    "type": "synonym"
                }
            ],
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                    "id": "0080265",
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        },
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            "uniprot_canonical_ac": "O95470-1",
            "uniprot_ac": "O95470",
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            "refseq_ac": "NP_003892",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
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                    "type": "recommended"
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                    "type": "synonym"
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                    "type": "synonym"
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                {
                    "name": "SPL 1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine-1-phosphate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "hSPL",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate lyase 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SGPL1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1252",
                    "type": "synonym"
                },
                {
                    "name": "NPHS14",
                    "type": "synonym"
                },
                {
                    "name": "RENI",
                    "type": "synonym"
                },
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                    "name": "S1PL",
                    "type": "synonym"
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                    "name": "SGPL1",
                    "type": "synonym"
                },
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                    "id": "0080265",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05567-1",
            "uniprot_ac": "Q05567",
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            "refseq_ac": "NP_010580",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingosine-1-phosphate lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.2.-",
                    "type": "synonym"
                },
                {
                    "name": "4.1.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Bestowed of sphingosine tolerance 1",
                    "type": "synonym"
                },
                {
                    "name": "S1PL",
                    "type": "synonym"
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                {
                    "name": "SP-lyase",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine-1-phosphate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "sphinganine-1-phosphate aldolase DPL1",
                    "type": "synonym"
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                {
                    "name": "ySPL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPL1",
                    "type": "recommended"
                },
                {
                    "name": "BST1",
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                },
                {
                    "name": "D9819.5",
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                    "name": "DPL1",
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                    "id": "0080265",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080265"
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        },
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            "uniprot_canonical_ac": "Q8CHN6-1",
            "uniprot_ac": "Q8CHN6",
            "uniprot_id": "SGPL1_RAT",
            "refseq_ac": "NP_775139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                    "name": "Sphingosine-1-phosphate lyase 1",
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                    "name": "Sgpl1",
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                    "name": "Spgl1",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
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                    "name": "CG8946-PA",
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                    "name": "Sphingosine-1-phosphate lyase, isoform A",
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                    "name": "sphinganine-1-phosphate lyase",
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                    "name": "sphingosine-1-phosphate lyase",
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                    "name": "Sply",
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                    "name": "Dmel\\CG8946",
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                {
                    "name": "anon-WO0142479.5",
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                    "name": "l(2)05091",
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                    "name": "spl",
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                    "id": "0080265",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080265"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080265"
}