{
    "disease_id": "DOID:0070444",
    "recommended_name": {
        "id": "DOID:0070444",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070444",
        "name": "neurodevelopmental disorder with language delay and seizures",
        "description": "An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0859256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859256",
            "name": "neurodevelopmental disorder with language delay and seizures",
            "description": ""
        },
        {
            "id": "MIM:619908",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619908",
            "name": "Neurodevelopmental disorder with language delay and seizures",
            "description": "Neurodevelopmental disorder with language delay and seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070444"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070444",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070444",
            "categories": []
        },
        {
            "id": "MONDO:0859256",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859256",
            "categories": []
        },
        {
            "id": "MIM:619908",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619908",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AQ65-1",
            "uniprot_ac": "A0A8M3AQ65",
            "uniprot_id": "A0A8M3AQ65_DANRE",
            "refseq_ac": "XP_009290217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor TIAM1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tiam1b",
                    "type": "recommended"
                },
                {
                    "name": "tiam1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AQ65-1",
            "evidence": [
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60610-1",
            "uniprot_ac": "Q60610",
            "uniprot_id": "TIAM1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor TIAM1",
                    "type": "recommended"
                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TIAM-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tiam1",
                    "type": "recommended"
                },
                {
                    "name": "Tiam-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60610-1",
            "evidence": [
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZPF3-1",
            "uniprot_ac": "Q6ZPF3",
            "uniprot_id": "TIAM2_MOUSE",
            "refseq_ac": "NP_001116470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor TIAM2",
                    "type": "recommended"
                },
                {
                    "name": "RAS-related C3 botulinum substrate 1, guanine nucleotide exchange factor 1",
                    "type": "synonym"
                },
                {
                    "name": "SIF and TIAM1-like exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell lymphoma invasion and metastasis 2",
                    "type": "synonym"
                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "TIAM-2",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tiam2",
                    "type": "recommended"
                },
                {
                    "name": "3000002F19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa2016",
                    "type": "synonym"
                },
                {
                    "name": "STEF",
                    "type": "synonym"
                },
                {
                    "name": "Stef",
                    "type": "synonym"
                },
                {
                    "name": "Tiam2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA2016",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZPF3-1",
            "evidence": [
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13009-1",
            "uniprot_ac": "Q13009",
            "uniprot_id": "TIAM1_HUMAN",
            "refseq_ac": "NP_003244",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor TIAM1",
                    "type": "recommended"
                },
                {
                    "name": "T cell lymphoma invasion and metastasis 1",
                    "type": "synonym"
                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TIAM-1",
                    "type": "synonym"
                },
                {
                    "name": "human T-lymphoma invasion and metastasis inducing TIAM1 protein",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIAM1",
                    "type": "recommended"
                },
                {
                    "name": "NEDLDS",
                    "type": "synonym"
                },
                {
                    "name": "TIAM-1",
                    "type": "synonym"
                },
                {
                    "name": "TIAM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13009-1",
            "evidence": [
                {
                    "id": "619908",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619908"
                },
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11433-1",
            "uniprot_ac": "P11433",
            "uniprot_id": "CDC24_YEAST",
            "refseq_ac": "NP_009359",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division control protein 24",
                    "type": "recommended"
                },
                {
                    "name": "Calcium regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "Rho family guanine nucleotide exchange factor CDC24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC24",
                    "type": "recommended"
                },
                {
                    "name": "CDC24",
                    "type": "synonym"
                },
                {
                    "name": "CLS4",
                    "type": "synonym"
                }
            ],
            "record_id": "P11433-1",
            "evidence": [
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AC12-1",
            "uniprot_ac": "A0A8I6AC12",
            "uniprot_id": "A0A8I6AC12_RAT",
            "refseq_ac": "NP_001094028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell lymphoma invasion and metastasis 1",
                    "type": "synonym"
                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TIAM Rac1 associated GEF 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tiam1",
                    "type": "recommended"
                },
                {
                    "name": "Tiam1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AC12-1",
            "evidence": [
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZMS5-1",
            "uniprot_ac": "D3ZMS5",
            "uniprot_id": "D3ZMS5_RAT",
            "refseq_ac": "NP_001414402",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell lymphoma invasion and metastasis 2",
                    "type": "synonym"
                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "TIAM Rac1 associated GEF 2",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tiam2",
                    "type": "recommended"
                },
                {
                    "name": "Tiam2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZMS5-1",
            "evidence": [
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91621-1",
            "uniprot_ac": "P91621",
            "uniprot_id": "SIF1_DROME",
            "refseq_ac": "NP_001097519",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein still life, isoform SIF type 1",
                    "type": "recommended"
                },
                {
                    "name": "CG34418-PI",
                    "type": "synonym"
                },
                {
                    "name": "sif-PI",
                    "type": "synonym"
                },
                {
                    "name": "still life type 1",
                    "type": "synonym"
                },
                {
                    "name": "still life type 2",
                    "type": "synonym"
                },
                {
                    "name": "still life, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "still life",
                    "type": "synonym"
                },
                {
                    "name": "still-life",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sif",
                    "type": "recommended"
                },
                {
                    "name": "CG32414",
                    "type": "synonym"
                },
                {
                    "name": "CG34418",
                    "type": "synonym"
                },
                {
                    "name": "CG5256",
                    "type": "synonym"
                },
                {
                    "name": "CG5406",
                    "type": "synonym"
                },
                {
                    "name": "Dm_3L:26493",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34418",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34418",
                    "type": "synonym"
                },
                {
                    "name": "RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "SIF",
                    "type": "synonym"
                },
                {
                    "name": "Sif",
                    "type": "synonym"
                },
                {
                    "name": "Stilllife",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.447",
                    "type": "synonym"
                },
                {
                    "name": "sif",
                    "type": "synonym"
                },
                {
                    "name": "slf",
                    "type": "synonym"
                }
            ],
            "record_id": "P91621-1",
            "evidence": [
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IVF5-1",
            "uniprot_ac": "Q8IVF5",
            "uniprot_id": "TIAM2_HUMAN",
            "refseq_ac": "NP_001010927",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor TIAM2",
                    "type": "recommended"
                },
                {
                    "name": "SIF and TIAM1-like exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "T cell lymphoma invasion and metastasis 2",
                    "type": "synonym"
                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "TIAM-2",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIAM2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA2016",
                    "type": "synonym"
                },
                {
                    "name": "STEF",
                    "type": "synonym"
                },
                {
                    "name": "TIAM-2",
                    "type": "synonym"
                },
                {
                    "name": "TIAM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IVF5-1",
            "evidence": [
                {
                    "id": "0070444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070444"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070444"
}