{
    "disease_id": "DOID:0070049",
    "recommended_name": {
        "id": "DOID:0070049",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070049",
        "name": "autosomal dominant intellectual developmental disorder 19",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070049",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070049",
            "name": "MRD19",
            "description": ""
        },
        {
            "id": "DOID:0070049",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070049",
            "name": "autosomal dominant mental retardation 19",
            "description": ""
        },
        {
            "id": "DOID:0070049",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070049",
            "name": "autosomal dominant non-syndromic intellectual disability 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "severe intellectual disability-progressive spastic diplegia syndrome",
            "description": "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person."
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "CTNNB1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "MRD19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "autosomal dominant intellectual disability 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "intellectual disability, autosomal dominant type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "mental retardation, autosomal dominant type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "neurodevelopmental disorder with spastic diplegia and visual defects",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "severe intellectual disability-progressive spastic diplegia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "CTNNB1-related intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "intellectual disability, autosomal dominant 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "mental retardation, autosomal dominant 19",
            "description": ""
        },
        {
            "id": "MIM:615075",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615075",
            "name": "Neurodevelopmental disorder with spastic diplegia and visual defects",
            "description": "Neurodevelopmental disorder with spastic diplegia and visual defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070049"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070049",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070049",
            "categories": []
        },
        {
            "id": "MONDO:0014035",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "categories": []
        },
        {
            "id": "MIM:615075",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615075",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QGH7-1",
            "uniprot_ac": "F1QGH7",
            "uniprot_id": "CTNB1_DANRE",
            "refseq_ac": "NP_571134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin beta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctnnb1",
                    "type": "recommended"
                },
                {
                    "name": "ctnnb1",
                    "type": "synonym"
                },
                {
                    "name": "ctnnb",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd2058",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73e10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi81c06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk25h01",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGH7-1",
            "evidence": [
                {
                    "id": "0070049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02248-1",
            "uniprot_ac": "Q02248",
            "uniprot_id": "CTNB1_MOUSE",
            "refseq_ac": "NP_001159374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin associated protein), beta 1",
                    "type": "synonym"
                },
                {
                    "name": "catenin beta-1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnnb1",
                    "type": "recommended"
                },
                {
                    "name": "Bfc",
                    "type": "synonym"
                },
                {
                    "name": "Catnb",
                    "type": "synonym"
                },
                {
                    "name": "Ctnnb1",
                    "type": "synonym"
                },
                {
                    "name": "Mesc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02248-1",
            "evidence": [
                {
                    "id": "0070049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35222-1",
            "uniprot_ac": "P35222",
            "uniprot_id": "CTNB1_HUMAN",
            "refseq_ac": "NP_001091679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin-associated protein), beta 1, 88kDa",
                    "type": "synonym"
                },
                {
                    "name": "catenin beta-1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTNNB1",
                    "type": "recommended"
                },
                {
                    "name": "CTNNB1",
                    "type": "synonym"
                },
                {
                    "name": "CTNNB",
                    "type": "synonym"
                },
                {
                    "name": "EVR7",
                    "type": "synonym"
                },
                {
                    "name": "MRD19",
                    "type": "synonym"
                },
                {
                    "name": "NEDSDV",
                    "type": "synonym"
                },
                {
                    "name": "PRO2286",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.35",
                    "type": "synonym"
                },
                {
                    "name": "armadillo",
                    "type": "synonym"
                }
            ],
            "record_id": "P35222-1",
            "evidence": [
                {
                    "id": "615075",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615075"
                },
                {
                    "id": "0070049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU82-1",
            "uniprot_ac": "Q9WU82",
            "uniprot_id": "CTNB1_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": "Catenin beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-catenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnnb1",
                    "type": "recommended"
                },
                {
                    "name": "Catnb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WU82-1",
            "evidence": [
                {
                    "id": "0070049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z325-1",
            "uniprot_ac": "Q9Z325",
            "uniprot_id": "DPM2_RAT",
            "refseq_ac": "NP_062125",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "recommended"
                },
                {
                    "name": "DPM synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate (beta-D) mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpm2",
                    "type": "recommended"
                },
                {
                    "name": "Pip5kl1",
                    "type": "recommended"
                },
                {
                    "name": "Dpm2",
                    "type": "synonym"
                },
                {
                    "name": "Pip5kl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z325-1",
            "evidence": [
                {
                    "id": "0070049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18824-1",
            "uniprot_ac": "P18824",
            "uniprot_id": "ARM_DROME",
            "refseq_ac": "NP_001259149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Armadillo segment polarity protein",
                    "type": "recommended"
                },
                {
                    "name": "-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Armadillo(Arm)/beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Armadillo/beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Armadillo/bgr",
                    "type": "synonym"
                },
                {
                    "name": "Beta-catenin/Arm",
                    "type": "synonym"
                },
                {
                    "name": "CG11579-PF",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "amardillo",
                    "type": "synonym"
                },
                {
                    "name": "arm-PF",
                    "type": "synonym"
                },
                {
                    "name": "armadillo, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "armadillo",
                    "type": "synonym"
                },
                {
                    "name": "b-catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-catenin/Armadillo",
                    "type": "synonym"
                },
                {
                    "name": "betaCatenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arm",
                    "type": "recommended"
                },
                {
                    "name": "-Cat",
                    "type": "synonym"
                },
                {
                    "name": "ARM",
                    "type": "synonym"
                },
                {
                    "name": "Armadillo",
                    "type": "synonym"
                },
                {
                    "name": "Arm",
                    "type": "synonym"
                },
                {
                    "name": "CG11579",
                    "type": "synonym"
                },
                {
                    "name": "Dm Arm",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11579",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11579",
                    "type": "synonym"
                },
                {
                    "name": "EG:86E4.6",
                    "type": "synonym"
                },
                {
                    "name": "arm",
                    "type": "synonym"
                },
                {
                    "name": "beta-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Cat",
                    "type": "synonym"
                },
                {
                    "name": "beta-cat-arm",
                    "type": "synonym"
                },
                {
                    "name": "beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-cat",
                    "type": "synonym"
                },
                {
                    "name": "betaCatenin",
                    "type": "synonym"
                },
                {
                    "name": "betacat",
                    "type": "synonym"
                },
                {
                    "name": "bgr:-Cat",
                    "type": "synonym"
                },
                {
                    "name": "bgr",
                    "type": "synonym"
                },
                {
                    "name": "dmCTNNB1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Bv",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0192",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0234",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0410",
                    "type": "synonym"
                },
                {
                    "name": "l(1)arm",
                    "type": "synonym"
                },
                {
                    "name": "t12687 ALR Dm",
                    "type": "synonym"
                }
            ],
            "record_id": "P18824-1",
            "evidence": [
                {
                    "id": "0070049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070049"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070049"
}