{
    "disease_id": "DOID:0112042",
    "recommended_name": {
        "id": "DOID:0112042",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112042",
        "name": "Tonne-Kalscheuer syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112042",
            "name": "MRX61",
            "description": ""
        },
        {
            "id": "DOID:0112042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112042",
            "name": "TOKAS",
            "description": ""
        },
        {
            "id": "DOID:0112042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112042",
            "name": "X-linked mental retardation 61",
            "description": ""
        },
        {
            "id": "DOID:0112042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112042",
            "name": "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia",
            "description": ""
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "intellectual disability, X-linked 61",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene."
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "MRX61",
            "description": ""
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "RLIM non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "Tonne-Kalscheuer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "intellectual disability, X-linked 61",
            "description": ""
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "intellectual disability, X-linked type 61",
            "description": ""
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "mental retardation, X-linked 61",
            "description": ""
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "mental retardation, X-linked type 61",
            "description": ""
        },
        {
            "id": "MONDO:0010506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in RLIM",
            "description": ""
        },
        {
            "id": "MIM:300978",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300978",
            "name": "Tonne-Kalscheuer syndrome",
            "description": "Tonne-Kalscheuer syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112042"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112042",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112042",
            "categories": []
        },
        {
            "id": "MONDO:0010506",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010506",
            "categories": []
        },
        {
            "id": "MIM:300978",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300978",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FH41-1",
            "uniprot_ac": "E7FH41",
            "uniprot_id": "E7FH41_DANRE",
            "refseq_ac": "XP_009306042",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RLIM",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rlim",
                    "type": "recommended"
                },
                {
                    "name": "rlim",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FH41-1",
            "evidence": [
                {
                    "id": "0112042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WTV7-1",
            "uniprot_ac": "Q9WTV7",
            "uniprot_id": "RNF12_MOUSE",
            "refseq_ac": "NP_035406",
            "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 RLIM",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RLIM",
                    "type": "synonym"
                },
                {
                    "name": "Hoxa1 regulated",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain-interacting RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "R-LIM",
                    "type": "synonym"
                },
                {
                    "name": "RING finger LIM domain-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 12",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RLIM",
                    "type": "synonym"
                },
                {
                    "name": "ring finger protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rlim",
                    "type": "recommended"
                },
                {
                    "name": "Ha1r",
                    "type": "synonym"
                },
                {
                    "name": "Rlim1",
                    "type": "synonym"
                },
                {
                    "name": "Rlim",
                    "type": "synonym"
                },
                {
                    "name": "Rnf12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTV7-1",
            "evidence": [
                {
                    "id": "0112042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVW2-1",
            "uniprot_ac": "Q9NVW2",
            "uniprot_id": "RNF12_HUMAN",
            "refseq_ac": "NP_057204",
            "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 RLIM",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RLIM",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF12",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain-interacting RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "R-LIM",
                    "type": "synonym"
                },
                {
                    "name": "RING finger LIM domain-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 12",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RLIM",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-43",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-43",
                    "type": "synonym"
                },
                {
                    "name": "ring finger protein 12",
                    "type": "synonym"
                },
                {
                    "name": "ring zinc finger LIM domain binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ring zinc finger protein NY-REN-43antigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RLIM",
                    "type": "recommended"
                },
                {
                    "name": "MRX61",
                    "type": "synonym"
                },
                {
                    "name": "NY-REN-43",
                    "type": "synonym"
                },
                {
                    "name": "RLIM",
                    "type": "synonym"
                },
                {
                    "name": "RNF12",
                    "type": "synonym"
                },
                {
                    "name": "TOKAS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVW2-1",
            "evidence": [
                {
                    "id": "300978",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300978"
                },
                {
                    "id": "0112042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V889-1",
            "uniprot_ac": "Q4V889",
            "uniprot_id": "Q4V889_RAT",
            "refseq_ac": "NP_001020063",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RLIM",
                    "type": "synonym"
                },
                {
                    "name": "ring finger protein 12",
                    "type": "synonym"
                },
                {
                    "name": "ring finger protein, LIM domain interacting-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rlim",
                    "type": "recommended"
                },
                {
                    "name": "Rliml1",
                    "type": "synonym"
                },
                {
                    "name": "Rlim",
                    "type": "synonym"
                },
                {
                    "name": "Rnf12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V889-1",
            "evidence": [
                {
                    "id": "0112042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112042"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112042"
}