{
    "disease_id": "DOID:0081123",
    "recommended_name": {
        "id": "DOID:0081123",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081123",
        "name": "X-linked mental retardation Gustavson type",
        "description": "A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0081123",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081123",
            "name": "mental retardation with optic atrophy, deafness and seizures",
            "description": ""
        },
        {
            "id": "DOID:0081123",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081123",
            "name": "Gustavson type of X-linked syndromic intellectual developmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "severe X-linked intellectual disability, Gustavson type",
            "description": "Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood."
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "X-linked intellectual disability Gustavson type",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "X-linked mental retardation Gustavson type",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "gust",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "intellectual disability X-linked severe Gustavson type",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "mental retardation X-linked severe Gustavson type",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "mental retardation with optic atrophy, deafness, and seizures",
            "description": ""
        },
        {
            "id": "MIM:309555",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309555",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Gustavson type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Gustavson type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081123"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081123",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081123",
            "categories": []
        },
        {
            "id": "MONDO:0010661",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "categories": []
        },
        {
            "id": "MIM:309555",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309555",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZWA3-1",
            "uniprot_ac": "Q7ZWA3",
            "uniprot_id": "RBMX_DANRE",
            "refseq_ac": "NP_997763",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "recommended"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein G",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein G",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rbmx",
                    "type": "recommended"
                },
                {
                    "name": "fc66e11",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP G",
                    "type": "synonym"
                },
                {
                    "name": "rbmx",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb37c07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc66e11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZWA3-1",
            "evidence": [
                {
                    "id": "0081123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WV02-1",
            "uniprot_ac": "Q9WV02",
            "uniprot_id": "RBMX_MOUSE",
            "refseq_ac": "NP_001160095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "recommended"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein G",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein G",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbmx",
                    "type": "recommended"
                },
                {
                    "name": "Hnrnpg",
                    "type": "synonym"
                },
                {
                    "name": "Hnrpg",
                    "type": "synonym"
                },
                {
                    "name": "Rbmxp1",
                    "type": "synonym"
                },
                {
                    "name": "Rbmxrt",
                    "type": "synonym"
                },
                {
                    "name": "Rbmx",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP G",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WV02-1",
            "evidence": [
                {
                    "id": "0081123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91VM5-1",
            "uniprot_ac": "Q91VM5",
            "uniprot_id": "RMXL1_MOUSE",
            "refseq_ac": "NP_001239018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA binding motif protein, X-linked-like-1",
                    "type": "recommended"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein G-like 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif protein, X chromosome retrogene",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif protein, X-linked-like-1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein G (hnRNP G)",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein G-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbmxl1",
                    "type": "recommended"
                },
                {
                    "name": "Hnrpg",
                    "type": "synonym"
                },
                {
                    "name": "Rbmxl1",
                    "type": "synonym"
                },
                {
                    "name": "Rbmxrt",
                    "type": "synonym"
                },
                {
                    "name": "Rbmx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VM5-1",
            "evidence": [
                {
                    "id": "0081123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2I3BRL8-1",
            "uniprot_ac": "A0A2I3BRL8",
            "uniprot_id": "A0A2I3BRL8_MOUSE",
            "refseq_ac": "NP_001423248",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Predicted gene 7324",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif protein, X chromosome pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "Rbmxrt pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "predicted gene 7324",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gm7324",
                    "type": "recommended"
                },
                {
                    "name": "EG652988",
                    "type": "synonym"
                },
                {
                    "name": "Gm7324",
                    "type": "synonym"
                },
                {
                    "name": "Rbmxrtp",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2I3BRL8-1",
            "evidence": [
                {
                    "id": "0081123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38159-1",
            "uniprot_ac": "P38159",
            "uniprot_id": "RBMX_HUMAN",
            "refseq_ac": "NP_001158275",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "recommended"
                },
                {
                    "name": "Glycoprotein p43",
                    "type": "synonym"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein G",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein p43",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein G",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RBMX",
                    "type": "recommended"
                },
                {
                    "name": "HNRNPG",
                    "type": "synonym"
                },
                {
                    "name": "HNRPG",
                    "type": "synonym"
                },
                {
                    "name": "MRXS11",
                    "type": "synonym"
                },
                {
                    "name": "MRXSG",
                    "type": "synonym"
                },
                {
                    "name": "MRXSH",
                    "type": "synonym"
                },
                {
                    "name": "RBMXP1",
                    "type": "synonym"
                },
                {
                    "name": "RBMXRT",
                    "type": "synonym"
                },
                {
                    "name": "RBMX",
                    "type": "synonym"
                },
                {
                    "name": "RNMX",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP-G",
                    "type": "synonym"
                }
            ],
            "record_id": "P38159-1",
            "evidence": [
                {
                    "id": "309555",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309555"
                },
                {
                    "id": "0081123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84586-1",
            "uniprot_ac": "P84586",
            "uniprot_id": "RMXRL_RAT",
            "refseq_ac": "NP_001100890",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding motif protein, X chromosome retrogene-like",
                    "type": "recommended"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein G retrogene-like",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif protein, X chromosome retrogene-like",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif protein, X chromosome retrogene",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif protein, X-linked-like 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome retrogene-like",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome retrogene",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein G retrogene-like",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbmxl1",
                    "type": "recommended"
                },
                {
                    "name": "Rbmxrtl",
                    "type": "recommended"
                },
                {
                    "name": "Rbmx",
                    "type": "recommended"
                },
                {
                    "name": "Rbmxl1",
                    "type": "synonym"
                },
                {
                    "name": "Rbmxrtl",
                    "type": "synonym"
                },
                {
                    "name": "Rbmxrt",
                    "type": "synonym"
                },
                {
                    "name": "Rbmx",
                    "type": "synonym"
                }
            ],
            "record_id": "P84586-1",
            "evidence": [
                {
                    "id": "0081123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V898-1",
            "uniprot_ac": "Q4V898",
            "uniprot_id": "RBMX_RAT",
            "refseq_ac": "NP_001020834",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "recommended"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein G",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif protein, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome retrogene-like",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome retrogene",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein G",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbmx",
                    "type": "recommended"
                },
                {
                    "name": "Rbmxrt",
                    "type": "synonym"
                },
                {
                    "name": "Rbmx",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP G",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP-G",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V898-1",
            "evidence": [
                {
                    "id": "0081123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081123"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081123"
}