{
    "disease_id": "DOID:0070059",
    "recommended_name": {
        "id": "DOID:0070059",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070059",
        "name": "autosomal dominant intellectual developmental disorder 29",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070059",
            "name": "MRD29",
            "description": ""
        },
        {
            "id": "DOID:0070059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070059",
            "name": "autosomal dominant mental retardation 29",
            "description": ""
        },
        {
            "id": "DOID:0070059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070059",
            "name": "autosomal dominant non-syndromic intellectual disability 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "intellectual disability, autosomal dominant 29",
            "description": "Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms."
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "MRD29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1 Haploinsufficiency Disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1-related complex neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "autosomal dominant intellectual disability 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "autosomal dominant mental retardation 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "intellectual disability, autosomal dominant type 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "mental retardation, autosomal dominant type 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1 related developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1-related intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "mental retardation, autosomal dominant 29",
            "description": ""
        },
        {
            "id": "MIM:616078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616078",
            "name": "Intellectual developmental disorder, autosomal dominant 29",
            "description": "Intellectual developmental disorder, autosomal dominant 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070059"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070059",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070059",
            "categories": []
        },
        {
            "id": "MONDO:0014482",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "categories": []
        },
        {
            "id": "MIM:616078",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616078",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6S3-1",
            "uniprot_ac": "A0ACD6B6S3",
            "uniprot_id": "A0ACD6B6S3_DANRE",
            "refseq_ac": "XP_005165732",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "setbp1",
                    "type": "recommended"
                },
                {
                    "name": "setbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6S3-1",
            "evidence": [
                {
                    "id": "0070059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z180-1",
            "uniprot_ac": "Q9Z180",
            "uniprot_id": "SETBP_MOUSE",
            "refseq_ac": "NP_444329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "SEB",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setbp1",
                    "type": "recommended"
                },
                {
                    "name": "C130092E12",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0437",
                    "type": "synonym"
                },
                {
                    "name": "Seb",
                    "type": "synonym"
                },
                {
                    "name": "Setbp1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0437",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z180-1",
            "evidence": [
                {
                    "id": "0070059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6X0-1",
            "uniprot_ac": "Q9Y6X0",
            "uniprot_id": "SETBP_HUMAN",
            "refseq_ac": "NP_001123582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "SEB",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding protein isoform b",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SETBP1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0437",
                    "type": "synonym"
                },
                {
                    "name": "MRD29",
                    "type": "synonym"
                },
                {
                    "name": "SEB",
                    "type": "synonym"
                },
                {
                    "name": "SETBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6X0-1",
            "evidence": [
                {
                    "id": "616078",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616078"
                },
                {
                    "id": "0070059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A7F2-1",
            "uniprot_ac": "A0A8I6A7F2",
            "uniprot_id": "A0A8I6A7F2_RAT",
            "refseq_ac": "NP_001414555",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setbp1",
                    "type": "recommended"
                },
                {
                    "name": "Setbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A7F2-1",
            "evidence": [
                {
                    "id": "0070059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070059"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070059"
}