{
    "disease_id": "DOID:0070056",
    "recommended_name": {
        "id": "DOID:0070056",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070056",
        "name": "autosomal dominant intellectual developmental disorder 26",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0070056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070056",
            "name": "MRD26",
            "description": ""
        },
        {
            "id": "DOID:0070056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070056",
            "name": "autosomal dominant mental retardation 26",
            "description": ""
        },
        {
            "id": "DOID:0070056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070056",
            "name": "autosomal dominant non-syndromic intellectual disability 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "autism spectrum disorder due to AUTS2 deficiency",
            "description": "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures."
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "ASD due to AUTS2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "AUTS2 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "MRD26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "autism spectrum disorder due to AUTS2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "intellectual developmental disorder, autosomal dominant 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "intellectual disability type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "mental retardation, autosomal dominant 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "mental retardation, autosomal dominant type 26",
            "description": ""
        },
        {
            "id": "MIM:615834",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615834",
            "name": "Intellectual developmental disorder, autosomal dominant 26",
            "description": "Intellectual developmental disorder, autosomal dominant 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070056"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070056",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070056",
            "categories": []
        },
        {
            "id": "MONDO:0014361",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "categories": []
        },
        {
            "id": "MIM:615834",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615834",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A087WPF7-1",
            "uniprot_ac": "A0A087WPF7",
            "uniprot_id": "AUTS2_MOUSE",
            "refseq_ac": "NP_001350409",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autism susceptibility gene 2 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "autism susceptibility gene 2 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Auts2",
                    "type": "recommended"
                },
                {
                    "name": "2700063G02Rik",
                    "type": "synonym"
                },
                {
                    "name": "A730011F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Auts2",
                    "type": "synonym"
                },
                {
                    "name": "D830032G16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0442",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A087WPF7-1",
            "evidence": [
                {
                    "id": "0070056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXX7-1",
            "uniprot_ac": "Q8WXX7",
            "uniprot_id": "AUTS2_HUMAN",
            "refseq_ac": "NP_001120703",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autism susceptibility gene 2 protein",
                    "type": "recommended"
                },
                {
                    "name": "AUTS2, activator of transcription and developmental regulator",
                    "type": "synonym"
                },
                {
                    "name": "autism susceptibility candidate 2",
                    "type": "synonym"
                },
                {
                    "name": "autism susceptibility gene 2 protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "autism susceptibility gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "autism-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AUTS2",
                    "type": "recommended"
                },
                {
                    "name": "AUTS2",
                    "type": "synonym"
                },
                {
                    "name": "FBRSL2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0442",
                    "type": "synonym"
                },
                {
                    "name": "MRD26",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXX7-1",
            "evidence": [
                {
                    "id": "615834",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615834"
                },
                {
                    "id": "0070056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y6H6-1",
            "uniprot_ac": "A0A8I5Y6H6",
            "uniprot_id": "A0A8I5Y6H6_RAT",
            "refseq_ac": "XP_063127358",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activator of transcription and developmental regulator AUTS2",
                    "type": "synonym"
                },
                {
                    "name": "autism susceptibility gene 2 protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Auts2",
                    "type": "recommended"
                },
                {
                    "name": "Auts2l1",
                    "type": "synonym"
                },
                {
                    "name": "Auts2l",
                    "type": "synonym"
                },
                {
                    "name": "Auts2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5Y6H6-1",
            "evidence": [
                {
                    "id": "0070056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXM5-1",
            "uniprot_ac": "Q9VXM5",
            "uniprot_id": "Q9VXM5_DROME",
            "refseq_ac": "NP_001259585",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9056-PB",
                    "type": "synonym"
                },
                {
                    "name": "Tay bridge, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Tay bridge, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Tay bridge, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Tay bridge",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) 14Ac",
                    "type": "synonym"
                },
                {
                    "name": "tay bridge, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tay-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tay",
                    "type": "recommended"
                },
                {
                    "name": "CG9056",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9056",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9056",
                    "type": "synonym"
                },
                {
                    "name": "Tay",
                    "type": "synonym"
                },
                {
                    "name": "XI",
                    "type": "synonym"
                },
                {
                    "name": "dAUTS2",
                    "type": "synonym"
                },
                {
                    "name": "l(1)13Ff",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Ac",
                    "type": "synonym"
                },
                {
                    "name": "l(1)XI",
                    "type": "synonym"
                },
                {
                    "name": "tay",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXM5-1",
            "evidence": [
                {
                    "id": "0070056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070056"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070056"
}