{
    "disease_id": "DOID:0112058",
    "recommended_name": {
        "id": "DOID:0112058",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112058",
        "name": "non-syndromic X-linked intellectual disability 41",
        "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112058",
            "name": "MRX41",
            "description": ""
        },
        {
            "id": "DOID:0112058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112058",
            "name": "MRX48",
            "description": ""
        },
        {
            "id": "DOID:0112058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112058",
            "name": "X-linked mental retardation 41",
            "description": ""
        },
        {
            "id": "DOID:0112058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112058",
            "name": "X-linked mental retardation 48",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "intellectual disability, X-linked 41",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene."
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "GDI1 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "intellectual developmental disorder, X-linked 41, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "intellectual disability, X-linked 41",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "intellectual disability, X-linked type 41",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "mental retardation, X-linked type 41",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in GDI1",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "MRX41",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "mental retardation, X-linked 41",
            "description": ""
        },
        {
            "id": "MONDO:0010451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "name": "mental retardation, X-linked 48",
            "description": ""
        },
        {
            "id": "MIM:300849",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300849",
            "name": "Intellectual developmental disorder, X-linked 41",
            "description": "Intellectual developmental disorder, X-linked 41"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112058"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112058",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112058",
            "categories": []
        },
        {
            "id": "MONDO:0010451",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010451",
            "categories": []
        },
        {
            "id": "MIM:300849",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300849",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2AR68-1",
            "uniprot_ac": "A2AR68",
            "uniprot_id": "A2AR68_DANRE",
            "refseq_ac": "NP_001018444",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab GDP dissociation inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "rab GDP dissociation inhibitor alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdi1",
                    "type": "recommended"
                },
                {
                    "name": "gdi1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110600",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AR68-1",
            "evidence": [
                {
                    "id": "0112058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50396-1",
            "uniprot_ac": "P50396",
            "uniprot_id": "GDIA_MOUSE",
            "refseq_ac": "NP_034403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab GDP dissociation inhibitor alpha",
                    "type": "recommended"
                },
                {
                    "name": "GDI-1",
                    "type": "synonym"
                },
                {
                    "name": "Guanosine diphosphate dissociation inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "Rab GDIalpha",
                    "type": "synonym"
                },
                {
                    "name": "guanosine diphosphate (GDP) dissociation inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "guanosine diphosphate dissociation inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "rab GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "rab GDP dissociation inhibitor alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdi1",
                    "type": "recommended"
                },
                {
                    "name": "GDIA",
                    "type": "synonym"
                },
                {
                    "name": "GDIalpha",
                    "type": "synonym"
                },
                {
                    "name": "Gdi1",
                    "type": "synonym"
                },
                {
                    "name": "Rabgdia",
                    "type": "synonym"
                }
            ],
            "record_id": "P50396-1",
            "evidence": [
                {
                    "id": "0112058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31150-1",
            "uniprot_ac": "P31150",
            "uniprot_id": "GDIA_HUMAN",
            "refseq_ac": "NP_001484",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab GDP dissociation inhibitor alpha",
                    "type": "recommended"
                },
                {
                    "name": "GDI-1",
                    "type": "synonym"
                },
                {
                    "name": "Guanosine diphosphate dissociation inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligophrenin-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein XAP-4",
                    "type": "synonym"
                },
                {
                    "name": "Rab GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanosine diphosphate dissociation inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "oligophrenin-2",
                    "type": "synonym"
                },
                {
                    "name": "protein XAP-4",
                    "type": "synonym"
                },
                {
                    "name": "rab GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "rab GDP dissociation inhibitor alpha",
                    "type": "synonym"
                },
                {
                    "name": "rab GDP-dissociation inhibitor, alpha",
                    "type": "synonym"
                },
                {
                    "name": "testis secretory sperm-binding protein Li 208a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDI1",
                    "type": "recommended"
                },
                {
                    "name": "1A",
                    "type": "synonym"
                },
                {
                    "name": "GDI1",
                    "type": "synonym"
                },
                {
                    "name": "GDIL",
                    "type": "synonym"
                },
                {
                    "name": "MRX41",
                    "type": "synonym"
                },
                {
                    "name": "MRX48",
                    "type": "synonym"
                },
                {
                    "name": "OPHN2",
                    "type": "synonym"
                },
                {
                    "name": "RABGD1A",
                    "type": "synonym"
                },
                {
                    "name": "RABGDIA",
                    "type": "synonym"
                },
                {
                    "name": "XAP-4",
                    "type": "synonym"
                },
                {
                    "name": "XAP4",
                    "type": "synonym"
                },
                {
                    "name": "XLID41",
                    "type": "synonym"
                }
            ],
            "record_id": "P31150-1",
            "evidence": [
                {
                    "id": "300849",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300849"
                },
                {
                    "id": "0112058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39958-1",
            "uniprot_ac": "P39958",
            "uniprot_id": "GDI1_YEAST",
            "refseq_ac": "NP_011062",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab GDP-dissociation inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "Gdi1p",
                    "type": "synonym"
                },
                {
                    "name": "Rab GDI",
                    "type": "synonym"
                },
                {
                    "name": "Secretory pathway GDP dissociation inhibitor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDI1",
                    "type": "recommended"
                },
                {
                    "name": "GDI1",
                    "type": "synonym"
                },
                {
                    "name": "SEC19",
                    "type": "synonym"
                }
            ],
            "record_id": "P39958-1",
            "evidence": [
                {
                    "id": "0112058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50398-1",
            "uniprot_ac": "P50398",
            "uniprot_id": "GDIA_RAT",
            "refseq_ac": "NP_058784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab GDP dissociation inhibitor alpha",
                    "type": "recommended"
                },
                {
                    "name": "GDI-1",
                    "type": "synonym"
                },
                {
                    "name": "Guanosine diphosphate dissociation inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanosine diphosphate dissociation inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "rab GDI alpha",
                    "type": "synonym"
                },
                {
                    "name": "rab GDP dissociation inhibitor alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdi1",
                    "type": "recommended"
                },
                {
                    "name": "Gdi1",
                    "type": "synonym"
                },
                {
                    "name": "Rabgdia",
                    "type": "synonym"
                }
            ],
            "record_id": "P50398-1",
            "evidence": [
                {
                    "id": "0112058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLB7-1",
            "uniprot_ac": "Q9VLB7",
            "uniprot_id": "Q9VLB7_DROME",
            "refseq_ac": "NP_001245953",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab GDP dissociation inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "CG4422-PB",
                    "type": "synonym"
                },
                {
                    "name": "GDP dissociation inhibitor, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Gdi-PB",
                    "type": "synonym"
                },
                {
                    "name": "Gdi-related",
                    "type": "synonym"
                },
                {
                    "name": "rab GDP dissociation inhibitor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdi",
                    "type": "recommended"
                },
                {
                    "name": "Bulli",
                    "type": "synonym"
                },
                {
                    "name": "CG4422",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4422",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4422",
                    "type": "synonym"
                },
                {
                    "name": "GDI",
                    "type": "synonym"
                },
                {
                    "name": "GdI",
                    "type": "synonym"
                },
                {
                    "name": "Gdi",
                    "type": "synonym"
                },
                {
                    "name": "N7-3",
                    "type": "synonym"
                },
                {
                    "name": "dGDI",
                    "type": "synonym"
                },
                {
                    "name": "gdi",
                    "type": "synonym"
                },
                {
                    "name": "l(2)N7-3",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S746",
                    "type": "synonym"
                },
                {
                    "name": "rab GDI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLB7-1",
            "evidence": [
                {
                    "id": "0112058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43293-1",
            "uniprot_ac": "O43293",
            "uniprot_id": "DAPK3_HUMAN",
            "refseq_ac": "NP_001339",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Death-associated protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "DAP kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "DAP-like kinase",
                    "type": "synonym"
                },
                {
                    "name": "Dlk",
                    "type": "synonym"
                },
                {
                    "name": "MYPT1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Zipper-interacting protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "death-associated protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "zipper-interacting protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAPK3",
                    "type": "recommended"
                },
                {
                    "name": "DAPK3",
                    "type": "synonym"
                },
                {
                    "name": "DLK",
                    "type": "synonym"
                },
                {
                    "name": "ZIPK",
                    "type": "synonym"
                },
                {
                    "name": "ZIP",
                    "type": "synonym"
                }
            ],
            "record_id": "O43293-1",
            "evidence": [
                {
                    "id": "0112058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112058"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112058"
}