{
    "disease_id": "DOID:0111587",
    "recommended_name": {
        "id": "DOID:0111587",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111587",
        "name": "Gordon Holmes syndrome",
        "description": "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "CAHH",
            "description": ""
        },
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "GDHS",
            "description": ""
        },
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "LHRH deficiency and ataxia",
            "description": ""
        },
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "cerebellar ataxia-hypogonadism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "luteinizing hormone-releasing hormone deficiency with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "cerebellar ataxia-hypogonadism syndrome",
            "description": "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome."
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "Gordon-Holmes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "luteinizing hormone-releasing hormone deficiency with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "GDHS",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "Gordon Holmes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "cerebellar ataxia - hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "luteinizing hormone releasing hormone, deficiency of with ataxia",
            "description": ""
        },
        {
            "id": "MIM:212840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212840",
            "name": "Gordon Holmes syndrome",
            "description": "Gordon Holmes syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111587"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111587",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "categories": []
        },
        {
            "id": "MONDO:0008935",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "categories": []
        },
        {
            "id": "MIM:212840",
            "database": "MIM",
            "url": "https://www.omim.org/entry/212840",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F859-1",
            "uniprot_ac": "E7F859",
            "uniprot_id": "E7F859_DANRE",
            "refseq_ac": "XP_068075439",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF216",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnf216",
                    "type": "recommended"
                },
                {
                    "name": "rnf216",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F859-1",
            "evidence": [
                {
                    "id": "0111587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58283-1",
            "uniprot_ac": "P58283",
            "uniprot_id": "RN216_MOUSE",
            "refseq_ac": "NP_542128",
            "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 RNF216",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin ligase",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF216 isoform A",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF216",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 216",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF216",
                    "type": "synonym"
                },
                {
                    "name": "Triad domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "UbcM4-interacting protein 83",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-conjugating enzyme 7-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "triad domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ubcM4-interacting protein 83",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme 7-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf216",
                    "type": "recommended"
                },
                {
                    "name": "2810055G22Rik",
                    "type": "synonym"
                },
                {
                    "name": "F830018F18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rnf216",
                    "type": "synonym"
                },
                {
                    "name": "TRIAD3",
                    "type": "synonym"
                },
                {
                    "name": "Triad3",
                    "type": "synonym"
                },
                {
                    "name": "UIP83",
                    "type": "synonym"
                },
                {
                    "name": "Ubce7ip1",
                    "type": "synonym"
                },
                {
                    "name": "Uip83",
                    "type": "synonym"
                },
                {
                    "name": "Zin",
                    "type": "synonym"
                }
            ],
            "record_id": "P58283-1",
            "evidence": [
                {
                    "id": "0111587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NWF9-2",
            "uniprot_ac": "Q9NWF9",
            "uniprot_id": "RN216_HUMAN",
            "refseq_ac": "NP_996994",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF216",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF216 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF216",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 216",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF216",
                    "type": "synonym"
                },
                {
                    "name": "Triad domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-conjugating enzyme 7-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein inhibiting NF-kappa-B",
                    "type": "synonym"
                },
                {
                    "name": "triad domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme 7-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein inhibiting NF-kappa-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF216",
                    "type": "recommended"
                },
                {
                    "name": "CAHH",
                    "type": "synonym"
                },
                {
                    "name": "RNF216",
                    "type": "synonym"
                },
                {
                    "name": "TRIAD3",
                    "type": "synonym"
                },
                {
                    "name": "U7I1",
                    "type": "synonym"
                },
                {
                    "name": "UBCE7IP1",
                    "type": "synonym"
                },
                {
                    "name": "ZIN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NWF9-2",
            "evidence": [
                {
                    "id": "212840",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/212840"
                },
                {
                    "id": "0111587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L925-1",
            "uniprot_ac": "A0ABK0L925",
            "uniprot_id": "A0ABK0L925_RAT",
            "refseq_ac": "NP_001100592",
            "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 RNF216",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF216 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF216",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 216",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF216",
                    "type": "synonym"
                },
                {
                    "name": "Triad domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-conjugating enzyme 7-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf216",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565135",
                    "type": "synonym"
                },
                {
                    "name": "Rnf216",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L925-1",
            "evidence": [
                {
                    "id": "0111587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111587"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111587"
}