{
    "disease_id": "DOID:0081262",
    "recommended_name": {
        "id": "DOID:0081262",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081262",
        "name": "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0859197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859197",
            "name": "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MIM:619556",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619556",
            "name": "Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies",
            "description": "Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081262"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081262",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081262",
            "categories": []
        },
        {
            "id": "MONDO:0859197",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859197",
            "categories": []
        },
        {
            "id": "MIM:619556",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619556",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PNK8-1",
            "uniprot_ac": "A0A8M9PNK8",
            "uniprot_id": "A0A8M9PNK8_DANRE",
            "refseq_ac": "XP_021333077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transportin-2",
                    "type": "synonym"
                },
                {
                    "name": "transportin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnpo2b",
                    "type": "recommended"
                },
                {
                    "name": "tnpo2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PNK8-1",
            "evidence": [
                {
                    "id": "0081262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N7TD97-1",
            "uniprot_ac": "A0A8N7TD97",
            "uniprot_id": "A0A8N7TD97_DANRE",
            "refseq_ac": "XP_691079",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transportin-1",
                    "type": "recommended"
                },
                {
                    "name": "Importin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "transportin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnpo1",
                    "type": "recommended"
                },
                {
                    "name": "tnpo1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TD97-1",
            "evidence": [
                {
                    "id": "0081262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BFY9-1",
            "uniprot_ac": "Q8BFY9",
            "uniprot_id": "TNPO1_MOUSE",
            "refseq_ac": "NP_001041732",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transportin-1",
                    "type": "recommended"
                },
                {
                    "name": "Importin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "importin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin (importin) beta 2",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "transportin-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnpo1",
                    "type": "recommended"
                },
                {
                    "name": "D13Ertd688e",
                    "type": "synonym"
                },
                {
                    "name": "IPO2",
                    "type": "synonym"
                },
                {
                    "name": "Kpnb2",
                    "type": "synonym"
                },
                {
                    "name": "MIP1",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                },
                {
                    "name": "TRN",
                    "type": "synonym"
                },
                {
                    "name": "Tnpo1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BFY9-1",
            "evidence": [
                {
                    "id": "0081262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LG2-1",
            "uniprot_ac": "Q99LG2",
            "uniprot_id": "TNPO2_MOUSE",
            "refseq_ac": "NP_001116315",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transportin-2",
                    "type": "recommended"
                },
                {
                    "name": "Karyopherin beta-2b",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin (importin) beta 2b",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin beta-2b",
                    "type": "synonym"
                },
                {
                    "name": "transportin-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transportin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnpo2",
                    "type": "recommended"
                },
                {
                    "name": "1110034O24Rik",
                    "type": "synonym"
                },
                {
                    "name": "IPO3",
                    "type": "synonym"
                },
                {
                    "name": "Knpb2b",
                    "type": "synonym"
                },
                {
                    "name": "Kpnb2b",
                    "type": "synonym"
                },
                {
                    "name": "TRN2",
                    "type": "synonym"
                },
                {
                    "name": "Tnpo2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LG2-1",
            "evidence": [
                {
                    "id": "0081262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14787-1",
            "uniprot_ac": "O14787",
            "uniprot_id": "TNPO2_HUMAN",
            "refseq_ac": "NP_001129667",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transportin-2",
                    "type": "recommended"
                },
                {
                    "name": "Karyopherin beta-2b",
                    "type": "synonym"
                },
                {
                    "name": "importin 3",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin beta 2b, transportin",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin beta-2b",
                    "type": "synonym"
                },
                {
                    "name": "transportin 2 (importin 3, karyopherin beta 2b)",
                    "type": "synonym"
                },
                {
                    "name": "transportin-2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNPO2",
                    "type": "recommended"
                },
                {
                    "name": "IDDHISD",
                    "type": "synonym"
                },
                {
                    "name": "IPO3",
                    "type": "synonym"
                },
                {
                    "name": "KPNB2B",
                    "type": "synonym"
                },
                {
                    "name": "TNPO2",
                    "type": "synonym"
                },
                {
                    "name": "TRN2",
                    "type": "synonym"
                }
            ],
            "record_id": "O14787-1",
            "evidence": [
                {
                    "id": "619556",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619556"
                },
                {
                    "id": "0081262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38217-1",
            "uniprot_ac": "P38217",
            "uniprot_id": "IMB2_YEAST",
            "refseq_ac": "NP_009573",
            "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": "Importin subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "Importin-104",
                    "type": "synonym"
                },
                {
                    "name": "Kap104p",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin-104",
                    "type": "synonym"
                },
                {
                    "name": "TRN",
                    "type": "synonym"
                },
                {
                    "name": "Transportin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KAP104",
                    "type": "recommended"
                },
                {
                    "name": "KAP104",
                    "type": "synonym"
                },
                {
                    "name": "YBR0224",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AG33-1",
            "uniprot_ac": "A0A8I6AG33",
            "uniprot_id": "A0A8I6AG33_RAT",
            "refseq_ac": "NP_001094162",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transportin-1",
                    "type": "recommended"
                },
                {
                    "name": "Importin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "transportin-1 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Tnpo1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                }
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                {
                    "id": "0081262",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZER6-1",
            "uniprot_ac": "D3ZER6",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Transportin 2",
                    "type": "synonym"
                },
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                    "name": "transportin 2 (importin 3, karyopherin beta 2b)",
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                },
                {
                    "name": "transportin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnpo2",
                    "type": "recommended"
                },
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                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081262",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRV8-1",
            "uniprot_ac": "Q9VRV8",
            "uniprot_id": "Q9VRV8_DROME",
            "refseq_ac": "NP_001261472",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Transportin-1",
                    "type": "recommended"
                },
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                    "name": "CG7398-PD",
                    "type": "synonym"
                },
                {
                    "name": "Importin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin-beta2",
                    "type": "synonym"
                },
                {
                    "name": "Tnpo-PD",
                    "type": "synonym"
                },
                {
                    "name": "transportin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "transportin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnpo",
                    "type": "recommended"
                },
                {
                    "name": "CG7398",
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                },
                {
                    "name": "Dmel\\CG7398",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7398",
                    "type": "synonym"
                },
                {
                    "name": "IMPbeta2",
                    "type": "synonym"
                },
                {
                    "name": "Kapbeta2",
                    "type": "synonym"
                },
                {
                    "name": "TRN",
                    "type": "synonym"
                },
                {
                    "name": "Tm",
                    "type": "synonym"
                },
                {
                    "name": "Tnpo",
                    "type": "synonym"
                },
                {
                    "name": "Trn1",
                    "type": "synonym"
                },
                {
                    "name": "Trn",
                    "type": "synonym"
                },
                {
                    "name": "dTNPO",
                    "type": "synonym"
                },
                {
                    "name": "dTRN",
                    "type": "synonym"
                },
                {
                    "name": "dTnpo",
                    "type": "synonym"
                },
                {
                    "name": "dTrn",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081262",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92973-1",
            "uniprot_ac": "Q92973",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transportin-1",
                    "type": "recommended"
                },
                {
                    "name": "Importin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "M9 region interaction protein",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                },
                {
                    "name": "importin 2",
                    "type": "synonym"
                },
                {
                    "name": "importin beta 2",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin (importin) beta 2",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin beta-2",
                    "type": "synonym"
                },
                {
                    "name": "transportin-1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNPO1",
                    "type": "recommended"
                },
                {
                    "name": "IPO2",
                    "type": "synonym"
                },
                {
                    "name": "KPNB2",
                    "type": "synonym"
                },
                {
                    "name": "MIP1",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                },
                {
                    "name": "TNPO1",
                    "type": "synonym"
                },
                {
                    "name": "TRN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92973-1",
            "evidence": [
                {
                    "id": "0081262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081262"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081262"
}