{
    "disease_id": "DOID:0081454",
    "recommended_name": {
        "id": "DOID:0081454",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081454",
        "name": "Dent disease 2",
        "description": "A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "MONDO:0010359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010359",
            "name": "Dent disease type 2",
            "description": "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features."
        },
        {
            "id": "MONDO:0010359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010359",
            "name": "Dent disease caused by mutation in OCRL",
            "description": ""
        },
        {
            "id": "MONDO:0010359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010359",
            "name": "Dent disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010359",
            "name": "OCRL Dent disease",
            "description": ""
        },
        {
            "id": "MONDO:0010359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010359",
            "name": "dent disease 2, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010359",
            "name": "nephrolithiasis type 2",
            "description": ""
        },
        {
            "id": "MIM:300555",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300555",
            "name": "Dent disease 2",
            "description": "Dent disease 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081454"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081454",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081454",
            "categories": []
        },
        {
            "id": "MONDO:0010359",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010359",
            "categories": []
        },
        {
            "id": "MIM:300555",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300555",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IPY6-1",
            "uniprot_ac": "A0A0R4IPY6",
            "uniprot_id": "A0A0R4IPY6_DANRE",
            "refseq_ac": "XP_009289414",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase OCRL",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.56",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate 5-phosphatase OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase OCRL isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ocrl",
                    "type": "recommended"
                },
                {
                    "name": "ocrl",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi09g03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152864",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IPY6-1",
            "evidence": [
                {
                    "id": "0081454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NVF0-1",
            "uniprot_ac": "Q6NVF0",
            "uniprot_id": "OCRL_MOUSE",
            "refseq_ac": "NP_796189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase OCRL",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.56",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate 5-phosphatase OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase OCRL",
                    "type": "synonym"
                },
                {
                    "name": "oculocerebrorenal syndrome of Lowe",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,4,5-triphosphate 5-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ocrl",
                    "type": "recommended"
                },
                {
                    "name": "9530014D17Rik",
                    "type": "synonym"
                },
                {
                    "name": "OCRL1",
                    "type": "synonym"
                },
                {
                    "name": "Ocrl1",
                    "type": "synonym"
                },
                {
                    "name": "Ocrl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NVF0-1",
            "evidence": [
                {
                    "id": "0081454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01968-1",
            "uniprot_ac": "Q01968",
            "uniprot_id": "OCRL_HUMAN",
            "refseq_ac": "NP_000267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase OCRL",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.56",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate 5-phosphatase OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "Lowe oculocerebrorenal syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase OCRL isoform a",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "oculocerebrorenal syndrome of Lowe",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,4,5-triphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol polyphosphate 5-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OCRL",
                    "type": "recommended"
                },
                {
                    "name": "DENT2",
                    "type": "synonym"
                },
                {
                    "name": "Dent-2",
                    "type": "synonym"
                },
                {
                    "name": "LOCR",
                    "type": "synonym"
                },
                {
                    "name": "OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "OCRL1",
                    "type": "synonym"
                },
                {
                    "name": "OCRL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01968-1",
            "evidence": [
                {
                    "id": "300555",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300555"
                },
                {
                    "id": "0081454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGS3-1",
            "uniprot_ac": "D3ZGS3",
            "uniprot_id": "OCRL_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase OCRL",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.56",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate 5-phosphatase OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "OCRL-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ocrl",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZGS3-1",
            "evidence": [
                {
                    "id": "0081454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46094-1",
            "uniprot_ac": "O46094",
            "uniprot_id": "O46094_DROME",
            "refseq_ac": "NP_001259153",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "inositol-polyphosphate 5-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.56",
                    "type": "synonym"
                },
                {
                    "name": "CG3573-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ocrl-PB",
                    "type": "synonym"
                },
                {
                    "name": "inositol 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "oculocerebrorenal syndrome of lowe ortholog",
                    "type": "synonym"
                },
                {
                    "name": "oculocerebrorenal syndrome of lowe, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ocrl",
                    "type": "recommended"
                },
                {
                    "name": "CG3573",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3573",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3573",
                    "type": "synonym"
                },
                {
                    "name": "EG:86E4.5",
                    "type": "synonym"
                },
                {
                    "name": "OCRL",
                    "type": "synonym"
                },
                {
                    "name": "Ocrl",
                    "type": "synonym"
                },
                {
                    "name": "dOCRL",
                    "type": "synonym"
                },
                {
                    "name": "dOcrl",
                    "type": "synonym"
                },
                {
                    "name": "docrl",
                    "type": "synonym"
                },
                {
                    "name": "ocrl",
                    "type": "synonym"
                }
            ],
            "record_id": "O46094-1",
            "evidence": [
                {
                    "id": "0081454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081454"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081454"
}