{
    "disease_id": "DOID:0080389",
    "recommended_name": {
        "id": "DOID:0080389",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080389",
        "name": "nephrotic syndrome type 8",
        "description": "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0014099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014099",
            "name": "nephrotic syndrome, type 8",
            "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene."
        },
        {
            "id": "MONDO:0014099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014099",
            "name": "ARHGDIA nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014099",
            "name": "nephrotic syndrome caused by mutation in ARHGDIA",
            "description": ""
        },
        {
            "id": "MONDO:0014099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014099",
            "name": "nephrotic syndrome, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014099",
            "name": "NPHS8",
            "description": ""
        },
        {
            "id": "MIM:615244",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615244",
            "name": "Nephrotic syndrome 8",
            "description": "Nephrotic syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080389"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080389",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080389",
            "categories": []
        },
        {
            "id": "MONDO:0014099",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014099",
            "categories": []
        },
        {
            "id": "MIM:615244",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615244",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99PT1-1",
            "uniprot_ac": "Q99PT1",
            "uniprot_id": "GDIR1_MOUSE",
            "refseq_ac": "NP_598557",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GDP-dissociation inhibitor 1",
                    "type": "recommended"
                },
                {
                    "name": "GDI-1",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDI 1",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDIalpha",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDP dissociation inhibitor (GDI) alpha",
                    "type": "synonym"
                },
                {
                    "name": "Rho-GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "rho GDP-dissociation inhibitor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgdia",
                    "type": "recommended"
                },
                {
                    "name": "5330430M07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arhgdia",
                    "type": "synonym"
                },
                {
                    "name": "C87222",
                    "type": "synonym"
                },
                {
                    "name": "Gdi-1",
                    "type": "synonym"
                },
                {
                    "name": "Gdi1",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "Rho-GDI",
                    "type": "synonym"
                },
                {
                    "name": "RhoDGI",
                    "type": "synonym"
                },
                {
                    "name": "RhoGDI-1",
                    "type": "synonym"
                },
                {
                    "name": "rho GDI 1",
                    "type": "synonym"
                },
                {
                    "name": "rho-GDI alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PT1-1",
            "evidence": [
                {
                    "id": "0080389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52565-1",
            "uniprot_ac": "P52565",
            "uniprot_id": "GDIR1_HUMAN",
            "refseq_ac": "NP_001172006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GDP-dissociation inhibitor 1",
                    "type": "recommended"
                },
                {
                    "name": "GDP-dissociation inhibitor, aplysia RAS-related 1",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDI 1",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDP dissociation inhibitor (GDI) alpha",
                    "type": "synonym"
                },
                {
                    "name": "Rho-GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 47e",
                    "type": "synonym"
                },
                {
                    "name": "rho GDP-dissociation inhibitor 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "rho GDP-dissociation inhibitor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGDIA",
                    "type": "recommended"
                },
                {
                    "name": "ARHGDIA",
                    "type": "synonym"
                },
                {
                    "name": "GDIA1",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-47e",
                    "type": "synonym"
                },
                {
                    "name": "NPHS8",
                    "type": "synonym"
                },
                {
                    "name": "RHOGDI-1",
                    "type": "synonym"
                },
                {
                    "name": "RHOGDI",
                    "type": "synonym"
                }
            ],
            "record_id": "P52565-1",
            "evidence": [
                {
                    "id": "615244",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615244"
                },
                {
                    "id": "0080389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12434-1",
            "uniprot_ac": "Q12434",
            "uniprot_id": "GDIR_YEAST",
            "refseq_ac": "NP_010146",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GDP-dissociation inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "Rdi1p",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RDI1",
                    "type": "recommended"
                },
                {
                    "name": "D2175",
                    "type": "synonym"
                },
                {
                    "name": "RDI1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12434-1",
            "evidence": [
                {
                    "id": "0080389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XI73-1",
            "uniprot_ac": "Q5XI73",
            "uniprot_id": "GDIR1_RAT",
            "refseq_ac": "NP_001007006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GDP-dissociation inhibitor 1",
                    "type": "recommended"
                },
                {
                    "name": "Rho GDI 1",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDP dissociation inhibitor (GDI) alpha",
                    "type": "synonym"
                },
                {
                    "name": "Rho-GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "rho GDP-dissociation inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "rho-GDI alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgdia",
                    "type": "recommended"
                },
                {
                    "name": "Arhgdia",
                    "type": "synonym"
                },
                {
                    "name": "Bles01",
                    "type": "synonym"
                },
                {
                    "name": "Rho GDI 1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XI73-1",
            "evidence": [
                {
                    "id": "0080389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW59-1",
            "uniprot_ac": "Q9VW59",
            "uniprot_id": "Q9VW59_DROME",
            "refseq_ac": "NP_001262080",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GDP-dissociation inhibitor 3",
                    "type": "recommended"
                },
                {
                    "name": "CG7823-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rho-GDI gamma",
                    "type": "synonym"
                },
                {
                    "name": "RhoGDI, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "RhoGDI-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RhoGDI",
                    "type": "recommended"
                },
                {
                    "name": "CG7823",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7823",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7823",
                    "type": "synonym"
                },
                {
                    "name": "RhoGDI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW59-1",
            "evidence": [
                {
                    "id": "0080389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080389"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080389"
}