{
    "disease_id": "DOID:0081430",
    "recommended_name": {
        "id": "DOID:0081430",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081430",
        "name": "intellectual developmental disorder with autistic features and language delay, with or without seizures",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "DOID:0081430",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081430",
            "name": "IDDALDS",
            "description": ""
        },
        {
            "id": "MONDO:0030051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030051",
            "name": "intellectual developmental disorder with autistic features and language delay, with or without seizures",
            "description": ""
        },
        {
            "id": "MONDO:0030051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030051",
            "name": "IDDALDS",
            "description": ""
        },
        {
            "id": "MONDO:0030051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030051",
            "name": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES",
            "description": ""
        },
        {
            "id": "MONDO:0030051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030051",
            "name": "intellectual developmental disorder with autistic features and language delay, with or without seizures",
            "description": ""
        },
        {
            "id": "MIM:618906",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618906",
            "name": "Intellectual developmental disorder with autistic features and language delay, with or without seizures",
            "description": "Intellectual developmental disorder with autistic features and language delay, with or without seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081430"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081430",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081430",
            "categories": []
        },
        {
            "id": "MONDO:0030051",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030051",
            "categories": []
        },
        {
            "id": "MIM:618906",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618906",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TNR7-1",
            "uniprot_ac": "A0AB32TNR7",
            "uniprot_id": "A0AB32TNR7_DANRE",
            "refseq_ac": "XP_068075010",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein TANC2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tanc2a",
                    "type": "recommended"
                },
                {
                    "name": "tanc2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TNR7-1",
            "evidence": [
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TVH4-1",
            "uniprot_ac": "A0AB32TVH4",
            "uniprot_id": "A0AB32TVH4_DANRE",
            "refseq_ac": "XP_068079788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein TANC1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tanc1b",
                    "type": "recommended"
                },
                {
                    "name": "tanc1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TVH4-1",
            "evidence": [
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A690-1",
            "uniprot_ac": "A2A690",
            "uniprot_id": "TANC2_MOUSE",
            "refseq_ac": "NP_851416",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein TANC2",
                    "type": "recommended"
                },
                {
                    "name": "Protein TANC2",
                    "type": "synonym"
                },
                {
                    "name": "Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tanc2",
                    "type": "recommended"
                },
                {
                    "name": "3526402J09Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730590C14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1148",
                    "type": "synonym"
                },
                {
                    "name": "Tanc2",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A690-1",
            "evidence": [
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0VGY8-1",
            "uniprot_ac": "Q0VGY8",
            "uniprot_id": "TANC1_MOUSE",
            "refseq_ac": "NP_001277588",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein TANC1",
                    "type": "recommended"
                },
                {
                    "name": "TPR domain, ankyrin-repeat and coiled-coil-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tanc1",
                    "type": "recommended"
                },
                {
                    "name": "1200003E16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tanc1",
                    "type": "synonym"
                },
                {
                    "name": "Tanc",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1728",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VGY8-1",
            "evidence": [
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HCD6-1",
            "uniprot_ac": "Q9HCD6",
            "uniprot_id": "TANC2_HUMAN",
            "refseq_ac": "NP_079461",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein TANC2",
                    "type": "recommended"
                },
                {
                    "name": "Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC2",
                    "type": "synonym"
                },
                {
                    "name": "putative ankyrin-repeat containing protein",
                    "type": "synonym"
                },
                {
                    "name": "rolling pebbles homolog B",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TANC2",
                    "type": "recommended"
                },
                {
                    "name": "IDDALDS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1148",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1636",
                    "type": "synonym"
                },
                {
                    "name": "ROLSA",
                    "type": "synonym"
                },
                {
                    "name": "TANC2",
                    "type": "synonym"
                },
                {
                    "name": "rols",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HCD6-1",
            "evidence": [
                {
                    "id": "618906",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618906"
                },
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LTE0-1",
            "uniprot_ac": "F1LTE0",
            "uniprot_id": "TANC2_RAT",
            "refseq_ac": "NP_001178582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein TANC2",
                    "type": "recommended"
                },
                {
                    "name": "protein TANC2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tanc2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309285",
                    "type": "synonym"
                },
                {
                    "name": "Tanc2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LTE0-1",
            "evidence": [
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6F6B3-1",
            "uniprot_ac": "Q6F6B3",
            "uniprot_id": "TANC1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein TANC1",
                    "type": "recommended"
                },
                {
                    "name": "TPR domain, ankyrin-repeat and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tanc1",
                    "type": "recommended"
                },
                {
                    "name": "Tanc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6F6B3-1",
            "evidence": [
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTS9-1",
            "uniprot_ac": "Q9VTS9",
            "uniprot_id": "Q9VTS9_DROME",
            "refseq_ac": "NP_729778",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32096-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rolling pebbles, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "antisocial",
                    "type": "synonym"
                },
                {
                    "name": "rolling pebbles 7",
                    "type": "synonym"
                },
                {
                    "name": "rolling pebbles, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "rols-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rols",
                    "type": "recommended"
                },
                {
                    "name": "ANTS",
                    "type": "synonym"
                },
                {
                    "name": "Ants",
                    "type": "synonym"
                },
                {
                    "name": "CG12277",
                    "type": "synonym"
                },
                {
                    "name": "CG17155",
                    "type": "synonym"
                },
                {
                    "name": "CG32096",
                    "type": "synonym"
                },
                {
                    "name": "CG5679",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32096",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32096",
                    "type": "synonym"
                },
                {
                    "name": "Rol/Ants",
                    "type": "synonym"
                },
                {
                    "name": "Rols6",
                    "type": "synonym"
                },
                {
                    "name": "Rols7",
                    "type": "synonym"
                },
                {
                    "name": "Rols",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0257455.19",
                    "type": "synonym"
                },
                {
                    "name": "ants/rols",
                    "type": "synonym"
                },
                {
                    "name": "ants",
                    "type": "synonym"
                },
                {
                    "name": "l(3)08232",
                    "type": "synonym"
                },
                {
                    "name": "l(3)68Fd",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j2A6",
                    "type": "synonym"
                },
                {
                    "name": "rols7",
                    "type": "synonym"
                },
                {
                    "name": "rols\\ants",
                    "type": "synonym"
                },
                {
                    "name": "rols",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTS9-1",
            "evidence": [
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0D5-1",
            "uniprot_ac": "Q9C0D5",
            "uniprot_id": "TANC1_HUMAN",
            "refseq_ac": "NP_001139381",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein TANC1",
                    "type": "recommended"
                },
                {
                    "name": "TPR domain, ankyrin-repeat and coiled-coil-containing",
                    "type": "synonym"
                },
                {
                    "name": "Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein TANC1",
                    "type": "synonym"
                },
                {
                    "name": "rolling pebbles homolog B",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TANC1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1728",
                    "type": "synonym"
                },
                {
                    "name": "ROLSB",
                    "type": "synonym"
                },
                {
                    "name": "TANC1",
                    "type": "synonym"
                },
                {
                    "name": "TANC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C0D5-1",
            "evidence": [
                {
                    "id": "0081430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081430"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081430"
}