{
    "disease_id": "DOID:0080386",
    "recommended_name": {
        "id": "DOID:0080386",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080386",
        "name": "nephrotic syndrome type 10",
        "description": "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014373",
            "name": "nephrotic syndrome, type 10",
            "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene."
        },
        {
            "id": "MONDO:0014373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014373",
            "name": "EMP2 nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014373",
            "name": "nephrotic syndrome caused by mutation in EMP2",
            "description": ""
        },
        {
            "id": "MONDO:0014373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014373",
            "name": "nephrotic syndrome, type 10",
            "description": ""
        },
        {
            "id": "MONDO:0014373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014373",
            "name": "NPHS10",
            "description": ""
        },
        {
            "id": "MIM:615861",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615861",
            "name": "Nephrotic syndrome 10",
            "description": "Nephrotic syndrome 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080386"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080386",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080386",
            "categories": []
        },
        {
            "id": "MONDO:0014373",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014373",
            "categories": []
        },
        {
            "id": "MIM:615861",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615861",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QIK8-1",
            "uniprot_ac": "F1QIK8",
            "uniprot_id": "EMP2_DANRE",
            "refseq_ac": "XP_068072780",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EMP-2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial membrane protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "emp2",
                    "type": "recommended"
                },
                {
                    "name": "EMP-2",
                    "type": "synonym"
                },
                {
                    "name": "emp2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100935",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QIK8-1",
            "evidence": [
                {
                    "id": "0080386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88662-1",
            "uniprot_ac": "O88662",
            "uniprot_id": "EMP2_MOUSE",
            "refseq_ac": "NP_031955",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein XMP",
                    "type": "synonym"
                },
                {
                    "name": "epithelial membrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emp2",
                    "type": "recommended"
                },
                {
                    "name": "Emp2",
                    "type": "synonym"
                },
                {
                    "name": "XMP",
                    "type": "synonym"
                },
                {
                    "name": "Xmp",
                    "type": "synonym"
                }
            ],
            "record_id": "O88662-1",
            "evidence": [
                {
                    "id": "0080386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54851-1",
            "uniprot_ac": "P54851",
            "uniprot_id": "EMP2_HUMAN",
            "refseq_ac": "NP_001415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein XMP",
                    "type": "synonym"
                },
                {
                    "name": "epithelial membrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMP2",
                    "type": "recommended"
                },
                {
                    "name": "EMP2",
                    "type": "synonym"
                },
                {
                    "name": "XMP",
                    "type": "synonym"
                }
            ],
            "record_id": "P54851-1",
            "evidence": [
                {
                    "id": "615861",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615861"
                },
                {
                    "id": "0080386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HH2-1",
            "uniprot_ac": "Q66HH2",
            "uniprot_id": "EMP2_RAT",
            "refseq_ac": "NP_001007722",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EMP-2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial membrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emp2",
                    "type": "recommended"
                },
                {
                    "name": "EMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Emp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HH2-1",
            "evidence": [
                {
                    "id": "0080386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C0T2-1",
            "uniprot_ac": "P0C0T2",
            "uniprot_id": "ANKS6_RAT",
            "refseq_ac": "NP_001015028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and SAM domain-containing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Polycystic kidney disease protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "SamCystin",
                    "type": "synonym"
                },
                {
                    "name": "Sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "polycystic kidney disease protein 1",
                    "type": "synonym"
                },
                {
                    "name": "samcystin",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Anks6",
                    "type": "recommended"
                },
                {
                    "name": "Anks6",
                    "type": "synonym"
                },
                {
                    "name": "Pkdr1",
                    "type": "synonym"
                },
                {
                    "name": "Samd6",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C0T2-1",
            "evidence": [
                {
                    "id": "0080386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080386"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080386"
}