{
    "disease_id": "DOID:0080384",
    "recommended_name": {
        "id": "DOID:0080384",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080384",
        "name": "nephrotic syndrome type 6",
        "description": "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0013619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013619",
            "name": "nephrotic syndrome, type 6",
            "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene."
        },
        {
            "id": "MONDO:0013619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013619",
            "name": "PTPRO nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013619",
            "name": "nephrotic syndrome caused by mutation in PTPRO",
            "description": ""
        },
        {
            "id": "MONDO:0013619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013619",
            "name": "nephrotic syndrome, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013619",
            "name": "NPHS6",
            "description": ""
        },
        {
            "id": "MIM:614196",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614196",
            "name": "Nephrotic syndrome 6",
            "description": "Nephrotic syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080384"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080384",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080384",
            "categories": []
        },
        {
            "id": "MONDO:0013619",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013619",
            "categories": []
        },
        {
            "id": "MIM:614196",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614196",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9Q612-1",
            "uniprot_ac": "E9Q612",
            "uniprot_id": "PTPRO_MOUSE",
            "refseq_ac": "NP_035346",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-type tyrosine-protein phosphatase O",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Glomerular epithelial protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PTP-U2",
                    "type": "synonym"
                },
                {
                    "name": "PTPase U2",
                    "type": "synonym"
                },
                {
                    "name": "Protein tyrosine phosphatase U2",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP-O",
                    "type": "synonym"
                },
                {
                    "name": "glomerular epithelial protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase U2",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase, non-receptor type 15",
                    "type": "synonym"
                },
                {
                    "name": "receptor protein tyrosine phosphatase RO",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase O isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptpro",
                    "type": "recommended"
                },
                {
                    "name": "D28",
                    "type": "synonym"
                },
                {
                    "name": "GLEPP1",
                    "type": "synonym"
                },
                {
                    "name": "PTPBK",
                    "type": "synonym"
                },
                {
                    "name": "PTPROt",
                    "type": "synonym"
                },
                {
                    "name": "PTPU2",
                    "type": "synonym"
                },
                {
                    "name": "PTPoc",
                    "type": "synonym"
                },
                {
                    "name": "PTPphi",
                    "type": "synonym"
                },
                {
                    "name": "Ptpn15",
                    "type": "synonym"
                },
                {
                    "name": "Ptpro",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP-O",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q612-1",
            "evidence": [
                {
                    "id": "0080384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080384"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16827-1",
            "uniprot_ac": "Q16827",
            "uniprot_id": "PTPRO_HUMAN",
            "refseq_ac": "NP_002839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-type tyrosine-protein phosphatase O",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Glomerular epithelial protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PTP phi",
                    "type": "synonym"
                },
                {
                    "name": "PTP-U2",
                    "type": "synonym"
                },
                {
                    "name": "PTPase U2",
                    "type": "synonym"
                },
                {
                    "name": "Protein tyrosine phosphatase U2",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP-O",
                    "type": "synonym"
                },
                {
                    "name": "glomerular epithelial protein 1",
                    "type": "synonym"
                },
                {
                    "name": "osteoclastic transmembrane protein-tyrosine phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphotyrosine phosphatase U2",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase PTP-U2",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase O isoform b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTPRO",
                    "type": "recommended"
                },
                {
                    "name": "GLEPP1",
                    "type": "synonym"
                },
                {
                    "name": "NPHS6",
                    "type": "synonym"
                },
                {
                    "name": "PTP-OC",
                    "type": "synonym"
                },
                {
                    "name": "PTP-U2",
                    "type": "synonym"
                },
                {
                    "name": "PTPROT",
                    "type": "synonym"
                },
                {
                    "name": "PTPRO",
                    "type": "synonym"
                },
                {
                    "name": "PTPU2",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP-O",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16827-1",
            "evidence": [
                {
                    "id": "614196",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614196"
                },
                {
                    "id": "0080384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080384"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7F9Z5-1",
            "uniprot_ac": "F7F9Z5",
            "uniprot_id": "F7F9Z5_RAT",
            "refseq_ac": "NP_059032",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-type tyrosine-protein phosphatase O",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Glomerular epithelial protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein tyrosine phosphatase U2",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type protein tyrosine phosphatase D30",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase O precursor",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptpro",
                    "type": "recommended"
                },
                {
                    "name": "GLEPP1",
                    "type": "synonym"
                },
                {
                    "name": "Ptpro",
                    "type": "synonym"
                },
                {
                    "name": "RPTP-BK",
                    "type": "synonym"
                }
            ],
            "record_id": "F7F9Z5-1",
            "evidence": [
                {
                    "id": "0080384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080384"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080384"
}