{
    "disease_id": "DOID:0081216",
    "recommended_name": {
        "id": "DOID:0081216",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081216",
        "name": "autosomal recessive intellectual developmental disorder 54",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "intellectual disability, autosomal recessive 54",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene."
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "MRT54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "TNIK autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "intellectual developmental disorder 54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "intellectual disability, autosomal recessive 54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "intellectual disability, autosomal recessive type 54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "mental retardation, autosomal recessive 54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "mental retardation, autosomal recessive type 54",
            "description": ""
        },
        {
            "id": "MIM:617028",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617028",
            "name": "Intellectual developmental disorder, autosomal recessive 54",
            "description": "Intellectual developmental disorder, autosomal recessive 54"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081216"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081216",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081216",
            "categories": []
        },
        {
            "id": "MONDO:0014876",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "categories": []
        },
        {
            "id": "MIM:617028",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617028",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BA19-1",
            "uniprot_ac": "A0A8M2BA19",
            "uniprot_id": "A0A8M2BA19_DANRE",
            "refseq_ac": "XP_005162835",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "TRAF2 and NCK interacting kinase b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnikb",
                    "type": "recommended"
                },
                {
                    "name": "im:6898857",
                    "type": "synonym"
                },
                {
                    "name": "tnikb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123033",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152783",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BA19-1",
            "evidence": [
                {
                    "id": "0081216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BAL6-1",
            "uniprot_ac": "A0A8M2BAL6",
            "uniprot_id": "A0A8M2BAL6_DANRE",
            "refseq_ac": "XP_005163444",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "TRAF2 and NCK interacting kinase a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnika",
                    "type": "recommended"
                },
                {
                    "name": "fc52d11",
                    "type": "synonym"
                },
                {
                    "name": "msn",
                    "type": "synonym"
                },
                {
                    "name": "tnika",
                    "type": "synonym"
                },
                {
                    "name": "tnikl",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc52d11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63535",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BAL6-1",
            "evidence": [
                {
                    "id": "0081216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83510-1",
            "uniprot_ac": "P83510",
            "uniprot_id": "TNIK_MOUSE",
            "refseq_ac": "NP_001156480",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Traf2 and NCK-interacting protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "traf2 and NCK-interacting protein kinase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "traf2 and NCK-interacting protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnik",
                    "type": "recommended"
                },
                {
                    "name": "1500031A17Rik",
                    "type": "synonym"
                },
                {
                    "name": "4831440I19Rik",
                    "type": "synonym"
                },
                {
                    "name": "C530008O15Rik",
                    "type": "synonym"
                },
                {
                    "name": "C630040K21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0551",
                    "type": "synonym"
                },
                {
                    "name": "Tnik",
                    "type": "synonym"
                }
            ],
            "record_id": "P83510-1",
            "evidence": [
                {
                    "id": "0081216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKE5-1",
            "uniprot_ac": "Q9UKE5",
            "uniprot_id": "TNIK_HUMAN",
            "refseq_ac": "NP_001155032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TRAF2 and NCK-interacting protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "TRAF2 and NCK-interacting protein kinase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "TRAF2 and NCK-interacting protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNIK",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0551",
                    "type": "synonym"
                },
                {
                    "name": "MAP4K7",
                    "type": "synonym"
                },
                {
                    "name": "MRT54",
                    "type": "synonym"
                },
                {
                    "name": "TNIK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKE5-1",
            "evidence": [
                {
                    "id": "617028",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617028"
                },
                {
                    "id": "0081216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K490-1",
            "uniprot_ac": "A0A0G2K490",
            "uniprot_id": "A0A0G2K490_RAT",
            "refseq_ac": "NP_001426522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "TRAF2 and NCK-interacting protein kinase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "TRAF2 and NCK-interacting protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnik",
                    "type": "recommended"
                },
                {
                    "name": "RGD1561817",
                    "type": "synonym"
                },
                {
                    "name": "Tnik",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K490-1",
            "evidence": [
                {
                    "id": "0081216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W002-1",
            "uniprot_ac": "Q9W002",
            "uniprot_id": "Q9W002_DROME",
            "refseq_ac": "NP_524679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG16973-PA",
                    "type": "synonym"
                },
                {
                    "name": "NIK",
                    "type": "synonym"
                },
                {
                    "name": "mishappen",
                    "type": "synonym"
                },
                {
                    "name": "misshapen, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "misshapen",
                    "type": "synonym"
                },
                {
                    "name": "msn-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "msn",
                    "type": "recommended"
                },
                {
                    "name": "6286",
                    "type": "synonym"
                },
                {
                    "name": "CG16973",
                    "type": "synonym"
                },
                {
                    "name": "DMSN",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16973",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16973",
                    "type": "synonym"
                },
                {
                    "name": "HGK",
                    "type": "synonym"
                },
                {
                    "name": "JNKKKK",
                    "type": "synonym"
                },
                {
                    "name": "MESR5",
                    "type": "synonym"
                },
                {
                    "name": "MSN",
                    "type": "synonym"
                },
                {
                    "name": "Msn",
                    "type": "synonym"
                },
                {
                    "name": "NIK",
                    "type": "synonym"
                },
                {
                    "name": "Nik",
                    "type": "synonym"
                },
                {
                    "name": "l(3)03349",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06946",
                    "type": "synonym"
                },
                {
                    "name": "l(3)6286",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j1E2",
                    "type": "synonym"
                },
                {
                    "name": "msm",
                    "type": "synonym"
                },
                {
                    "name": "msn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W002-1",
            "evidence": [
                {
                    "id": "0081216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081216"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081216"
}