{
    "disease_id": "DOID:0080256",
    "recommended_name": {
        "id": "DOID:0080256",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080256",
        "name": "Perrault syndrome 6",
        "description": "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0033047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033047",
            "name": "Perrault syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0033047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033047",
            "name": "Perrault syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0033047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033047",
            "name": "PRLTS6",
            "description": ""
        },
        {
            "id": "MIM:617565",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617565",
            "name": "Perrault syndrome 6",
            "description": "Perrault syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080256"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080256",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080256",
            "categories": []
        },
        {
            "id": "MONDO:0033047",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033047",
            "categories": []
        },
        {
            "id": "MIM:617565",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617565",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S6U7-1",
            "uniprot_ac": "B0S6U7",
            "uniprot_id": "ERAL1_DANRE",
            "refseq_ac": "NP_001122219",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ERA-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Era G-protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eral1",
                    "type": "recommended"
                },
                {
                    "name": "eral1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-207c6.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S6U7-1",
            "evidence": [
                {
                    "id": "0080256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZU4-1",
            "uniprot_ac": "Q9CZU4",
            "uniprot_id": "ERAL1_MOUSE",
            "refseq_ac": "NP_071708",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CEGA",
                    "type": "synonym"
                },
                {
                    "name": "Conserved ERA-like GTPase",
                    "type": "synonym"
                },
                {
                    "name": "ERA-W",
                    "type": "synonym"
                },
                {
                    "name": "ERA-like GTPase",
                    "type": "synonym"
                },
                {
                    "name": "ERA-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein era homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "M-ERA",
                    "type": "synonym"
                },
                {
                    "name": "conserved ERA-like GTPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eral1",
                    "type": "recommended"
                },
                {
                    "name": "2610524P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "9130407C09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eral1",
                    "type": "synonym"
                },
                {
                    "name": "Era",
                    "type": "synonym"
                },
                {
                    "name": "M-ERA",
                    "type": "synonym"
                },
                {
                    "name": "MERA-S",
                    "type": "synonym"
                },
                {
                    "name": "MERA-W",
                    "type": "synonym"
                },
                {
                    "name": "Mera",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZU4-1",
            "evidence": [
                {
                    "id": "0080256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75616-1",
            "uniprot_ac": "O75616",
            "uniprot_id": "ERAL1_HUMAN",
            "refseq_ac": "NP_001304914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CEGA",
                    "type": "synonym"
                },
                {
                    "name": "Conserved ERA-like GTPase",
                    "type": "synonym"
                },
                {
                    "name": "ERA-W",
                    "type": "synonym"
                },
                {
                    "name": "ERA-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Era G-protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein era homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase Era, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "GTPase, human homolog of E. coli essential cell cycle protein Era",
                    "type": "synonym"
                },
                {
                    "name": "H-ERA",
                    "type": "synonym"
                },
                {
                    "name": "conserved ERA-like GTPase",
                    "type": "synonym"
                },
                {
                    "name": "era (E. coli G-protein homolog)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "hERA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERAL1",
                    "type": "recommended"
                },
                {
                    "name": "CEGA",
                    "type": "synonym"
                },
                {
                    "name": "ERA-W",
                    "type": "synonym"
                },
                {
                    "name": "ERAL1A",
                    "type": "synonym"
                },
                {
                    "name": "ERAL1B",
                    "type": "synonym"
                },
                {
                    "name": "ERAL1",
                    "type": "synonym"
                },
                {
                    "name": "ERA",
                    "type": "synonym"
                },
                {
                    "name": "H-ERA",
                    "type": "synonym"
                },
                {
                    "name": "HERA-A",
                    "type": "synonym"
                },
                {
                    "name": "HERA-B",
                    "type": "synonym"
                },
                {
                    "name": "HERA",
                    "type": "synonym"
                },
                {
                    "name": "PRLTS6",
                    "type": "synonym"
                }
            ],
            "record_id": "O75616-1",
            "evidence": [
                {
                    "id": "617565",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617565"
                },
                {
                    "id": "0080256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5EBA0-1",
            "uniprot_ac": "Q5EBA0",
            "uniprot_id": "ERAL1_RAT",
            "refseq_ac": "NP_001013247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ERA-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Era (G-protein)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Era-like 1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein era homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase Era, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eral1",
                    "type": "recommended"
                },
                {
                    "name": "Eral1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5EBA0-1",
            "evidence": [
                {
                    "id": "0080256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHB9-1",
            "uniprot_ac": "Q9JHB9",
            "uniprot_id": "SG2A1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secretoglobin family 2A member 1",
                    "type": "recommended"
                },
                {
                    "name": "Prostatic steroid-binding protein C3.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scgb2a1",
                    "type": "recommended"
                },
                {
                    "name": "Psbpc3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHB9-1",
            "evidence": [
                {
                    "id": "0080256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VG07-1",
            "uniprot_ac": "Q9VG07",
            "uniprot_id": "Q9VG07_DROME",
            "refseq_ac": "NP_650248",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase Era, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG7488-PA",
                    "type": "synonym"
                },
                {
                    "name": "ERA-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7488",
                    "type": "recommended"
                },
                {
                    "name": "CG7488",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7488",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7488",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VG07-1",
            "evidence": [
                {
                    "id": "0080256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080256"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080256"
}