{
    "disease_id": "DOID:0070416",
    "recommended_name": {
        "id": "DOID:0070416",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070416",
        "name": "Luo-Schoch-Yamamoto syndrome",
        "description": "A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070416",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070416",
            "name": "LUSYAM",
            "description": ""
        },
        {
            "id": "MONDO:0859171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859171",
            "name": "Luo-Schoch-Yamamoto syndrome",
            "description": ""
        },
        {
            "id": "MIM:619460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619460",
            "name": "Luo-Schoch-Yamamoto syndrome",
            "description": "Luo-Schoch-Yamamoto syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070416"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070416",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070416",
            "categories": []
        },
        {
            "id": "MONDO:0859171",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859171",
            "categories": []
        },
        {
            "id": "MIM:619460",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619460",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q803I4-1",
            "uniprot_ac": "Q803I4",
            "uniprot_id": "RING2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RING2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING2",
                    "type": "synonym"
                },
                {
                    "name": "RING1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnf2",
                    "type": "recommended"
                },
                {
                    "name": "fa19h05",
                    "type": "synonym"
                },
                {
                    "name": "ring1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa19h05",
                    "type": "synonym"
                },
                {
                    "name": "wz4556",
                    "type": "synonym"
                },
                {
                    "name": "wz4566",
                    "type": "synonym"
                }
            ],
            "record_id": "Q803I4-1",
            "evidence": [
                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQJ4-1",
            "uniprot_ac": "Q9CQJ4",
            "uniprot_id": "RING2_MOUSE",
            "refseq_ac": "NP_035407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RING2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RING2",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING2",
                    "type": "synonym"
                },
                {
                    "name": "RING1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf2",
                    "type": "recommended"
                },
                {
                    "name": "DinG",
                    "type": "synonym"
                },
                {
                    "name": "Ring1B",
                    "type": "synonym"
                },
                {
                    "name": "Ring1b",
                    "type": "synonym"
                },
                {
                    "name": "Rnf2",
                    "type": "synonym"
                },
                {
                    "name": "dinG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQJ4-1",
            "evidence": [
                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35730-1",
            "uniprot_ac": "O35730",
            "uniprot_id": "RING1_MOUSE",
            "refseq_ac": "NP_033092",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RING1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RING1",
                    "type": "synonym"
                },
                {
                    "name": "Polycomb complex protein RING1",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription repressor Ring1A",
                    "type": "synonym"
                },
                {
                    "name": "polycomb complex protein RING1",
                    "type": "synonym"
                },
                {
                    "name": "transcription repressor Ring1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ring1",
                    "type": "recommended"
                },
                {
                    "name": "Ring1A",
                    "type": "synonym"
                },
                {
                    "name": "Ring1",
                    "type": "synonym"
                },
                {
                    "name": "Rnf1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35730-1",
            "evidence": [
                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99496-1",
            "uniprot_ac": "Q99496",
            "uniprot_id": "RING2_HUMAN",
            "refseq_ac": "NP_009143",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RING2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RING2",
                    "type": "synonym"
                },
                {
                    "name": "HIP2-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin-interacting protein 2-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein DinG",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein BAP-1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING2",
                    "type": "synonym"
                },
                {
                    "name": "RING1b",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-interacting protein 2-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "protein DinG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF2",
                    "type": "recommended"
                },
                {
                    "name": "BAP-1",
                    "type": "synonym"
                },
                {
                    "name": "BAP1",
                    "type": "synonym"
                },
                {
                    "name": "DING",
                    "type": "synonym"
                },
                {
                    "name": "HIPI3",
                    "type": "synonym"
                },
                {
                    "name": "LUSYAM",
                    "type": "synonym"
                },
                {
                    "name": "RING1B",
                    "type": "synonym"
                },
                {
                    "name": "RING2",
                    "type": "synonym"
                },
                {
                    "name": "RNF2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99496-1",
            "evidence": [
                {
                    "id": "619460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619460"
                },
                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KLY4-1",
            "uniprot_ac": "Q4KLY4",
            "uniprot_id": "RING2_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": "E3 ubiquitin-protein ligase RING2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING2",
                    "type": "synonym"
                },
                {
                    "name": "RING1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf2",
                    "type": "recommended"
                },
                {
                    "name": "Ring1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KLY4-1",
            "evidence": [
                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6MGB6-1",
            "uniprot_ac": "Q6MGB6",
            "uniprot_id": "RING1_RAT",
            "refseq_ac": "NP_997714",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RING1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RING1",
                    "type": "synonym"
                },
                {
                    "name": "Polycomb complex protein RING1",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING1",
                    "type": "synonym"
                },
                {
                    "name": "polycomb complex protein RING1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ring1",
                    "type": "recommended"
                },
                {
                    "name": "Ring1A",
                    "type": "synonym"
                },
                {
                    "name": "Ring1",
                    "type": "synonym"
                },
                {
                    "name": "Rnf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6MGB6-1",
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                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VB08-1",
            "uniprot_ac": "Q9VB08",
            "uniprot_id": "RING1_DROME",
            "refseq_ac": "NP_477509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RING1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG5595-PA",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING1",
                    "type": "synonym"
                },
                {
                    "name": "SCE/dRING",
                    "type": "synonym"
                },
                {
                    "name": "Sce-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sex comb extra protein",
                    "type": "synonym"
                },
                {
                    "name": "Sex comb extra",
                    "type": "synonym"
                },
                {
                    "name": "Sex combs extra",
                    "type": "synonym"
                },
                {
                    "name": "dRING protein",
                    "type": "synonym"
                },
                {
                    "name": "dRING1",
                    "type": "synonym"
                },
                {
                    "name": "ring",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sce",
                    "type": "recommended"
                },
                {
                    "name": "CG5595",
                    "type": "synonym"
                },
                {
                    "name": "DRING",
                    "type": "synonym"
                },
                {
                    "name": "Ding",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5595",
                    "type": "synonym"
                },
                {
                    "name": "Dring",
                    "type": "synonym"
                },
                {
                    "name": "RING/Sce",
                    "type": "synonym"
                },
                {
                    "name": "RING1",
                    "type": "synonym"
                },
                {
                    "name": "RING",
                    "type": "synonym"
                },
                {
                    "name": "Ring/Sce",
                    "type": "synonym"
                },
                {
                    "name": "Ring",
                    "type": "synonym"
                },
                {
                    "name": "Rnf2",
                    "type": "synonym"
                },
                {
                    "name": "SCE",
                    "type": "synonym"
                },
                {
                    "name": "Sce/dRing",
                    "type": "synonym"
                },
                {
                    "name": "Sce",
                    "type": "synonym"
                },
                {
                    "name": "See/dRing",
                    "type": "synonym"
                },
                {
                    "name": "dRING1",
                    "type": "synonym"
                },
                {
                    "name": "dRING",
                    "type": "synonym"
                },
                {
                    "name": "dRNIG",
                    "type": "synonym"
                },
                {
                    "name": "dRing1",
                    "type": "synonym"
                },
                {
                    "name": "dRing",
                    "type": "synonym"
                },
                {
                    "name": "dring",
                    "type": "synonym"
                },
                {
                    "name": "sce",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VB08-1",
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                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5Q0-1",
            "uniprot_ac": "Q9Y5Q0",
            "uniprot_id": "FADS3_HUMAN",
            "refseq_ac": "NP_068373",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acid desaturase 3",
                    "type": "recommended"
                },
                {
                    "name": "1.14.19.-",
                    "type": "synonym"
                },
                {
                    "name": "Delta(13) desaturase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(13) fatty acid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "FADS3",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b5-related protein",
                    "type": "synonym"
                },
                {
                    "name": "delta(13) desaturase",
                    "type": "synonym"
                },
                {
                    "name": "delta(13) fatty acid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "delta-9 fatty acid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "delta-9-desaturase",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid desaturase 3",
                    "type": "synonym"
                },
                {
                    "name": "linoleoyl-CoA desaturase (delta-9-desaturase)-like 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FADS3",
                    "type": "recommended"
                },
                {
                    "name": "CYB5RP",
                    "type": "synonym"
                },
                {
                    "name": "FADS3",
                    "type": "synonym"
                },
                {
                    "name": "LLCDL3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5Q0-1",
            "evidence": [
                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06587-1",
            "uniprot_ac": "Q06587",
            "uniprot_id": "RING1_HUMAN",
            "refseq_ac": "NP_002922",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RING1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RING1",
                    "type": "synonym"
                },
                {
                    "name": "Polycomb complex protein RING1",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING1",
                    "type": "synonym"
                },
                {
                    "name": "Really interesting new gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "polycomb complex protein RING1",
                    "type": "synonym"
                },
                {
                    "name": "really interesting new gene 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RING1",
                    "type": "recommended"
                },
                {
                    "name": "RING1A",
                    "type": "synonym"
                },
                {
                    "name": "RING1",
                    "type": "synonym"
                },
                {
                    "name": "RNF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06587-1",
            "evidence": [
                {
                    "id": "0070416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070416"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070416"
}