{
    "disease_id": "DOID:0061138",
    "recommended_name": {
        "id": "DOID:0061138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061138",
        "name": "complex cortical dysplasia with other brain malformations 9",
        "description": "A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12."
    },
    "synonyms": [
        {
            "id": "DOID:0061138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061138",
            "name": "CDCBM9",
            "description": ""
        },
        {
            "id": "MONDO:0032578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032578",
            "name": "cortical dysplasia, complex, with other brain malformations 9",
            "description": ""
        },
        {
            "id": "MONDO:0032578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032578",
            "name": "CDCBM9",
            "description": ""
        },
        {
            "id": "MIM:618174",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618174",
            "name": "Cortical dysplasia, complex, with other brain malformations 9",
            "description": "Cortical dysplasia, complex, with other brain malformations 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061138"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061138",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061138",
            "categories": []
        },
        {
            "id": "MONDO:0032578",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032578",
            "categories": []
        },
        {
            "id": "MIM:618174",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618174",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B7ZC77-1",
            "uniprot_ac": "B7ZC77",
            "uniprot_id": "CTNA2_DANRE",
            "refseq_ac": "NP_001152844",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Alpha N-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha N-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "catenin, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnna2",
                    "type": "recommended"
                },
                {
                    "name": "ctnna2",
                    "type": "recommended"
                },
                {
                    "name": "bZ1H10.1",
                    "type": "synonym"
                },
                {
                    "name": "catna2l",
                    "type": "synonym"
                },
                {
                    "name": "ctnna2",
                    "type": "synonym"
                },
                {
                    "name": "im:5410539",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-13b9.1",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1h10.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B7ZC77-1",
            "evidence": [
                {
                    "id": "0061138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61301-1",
            "uniprot_ac": "Q61301",
            "uniprot_id": "CTNA2_MOUSE",
            "refseq_ac": "NP_001103234",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Alpha N-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha(N)-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin associated protein), alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cerebellar deficient folia",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnna2",
                    "type": "recommended"
                },
                {
                    "name": "Catna2",
                    "type": "synonym"
                },
                {
                    "name": "Catna",
                    "type": "synonym"
                },
                {
                    "name": "Ctnna2",
                    "type": "synonym"
                },
                {
                    "name": "cdf",
                    "type": "synonym"
                },
                {
                    "name": "chp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61301-1",
            "evidence": [
                {
                    "id": "0061138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26232-1",
            "uniprot_ac": "P26232",
            "uniprot_id": "CTNA2_HUMAN",
            "refseq_ac": "NP_001158355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Alpha N-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-catenin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-catenin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-associated protein, related",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 114",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin-associated protein), alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTNNA2",
                    "type": "recommended"
                },
                {
                    "name": "CAP-R",
                    "type": "synonym"
                },
                {
                    "name": "CAPR",
                    "type": "synonym"
                },
                {
                    "name": "CDCBM9",
                    "type": "synonym"
                },
                {
                    "name": "CT114",
                    "type": "synonym"
                },
                {
                    "name": "CTNNA2",
                    "type": "synonym"
                },
                {
                    "name": "CTNR",
                    "type": "synonym"
                }
            ],
            "record_id": "P26232-1",
            "evidence": [
                {
                    "id": "618174",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618174"
                },
                {
                    "id": "0061138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JYF7-1",
            "uniprot_ac": "A0A0G2JYF7",
            "uniprot_id": "A0A0G2JYF7_RAT",
            "refseq_ac": "NP_001100068",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Alpha N-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin associated protein), alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnna2",
                    "type": "recommended"
                },
                {
                    "name": "Catna2",
                    "type": "synonym"
                },
                {
                    "name": "Ctnna2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JYF7-1",
            "evidence": [
                {
                    "id": "0061138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21704-1",
            "uniprot_ac": "P21704",
            "uniprot_id": "DNAS1_RAT",
            "refseq_ac": "NP_037229",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyribonuclease-1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.21.1",
                    "type": "synonym"
                },
                {
                    "name": "DNase I",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyribonuclease I",
                    "type": "synonym"
                },
                {
                    "name": "alternatively spliced",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease I",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease-1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnase1",
                    "type": "recommended"
                },
                {
                    "name": "Dnase1",
                    "type": "synonym"
                },
                {
                    "name": "Dnl1",
                    "type": "synonym"
                }
            ],
            "record_id": "P21704-1",
            "evidence": [
                {
                    "id": "0061138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35220-1",
            "uniprot_ac": "P35220",
            "uniprot_id": "CTNA_DROME",
            "refseq_ac": "NP_524219",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG17947-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-alpha-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "a-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha catenin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "alpha catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Cat-PA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Ctenin",
                    "type": "synonym"
                },
                {
                    "name": "alphaCatenin",
                    "type": "synonym"
                },
                {
                    "name": "dalphacatenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alpha-Cat",
                    "type": "recommended"
                },
                {
                    "name": "CG17947",
                    "type": "synonym"
                },
                {
                    "name": "CT39986",
                    "type": "synonym"
                },
                {
                    "name": "D-alpha-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha-Cat",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha-cat",
                    "type": "synonym"
                },
                {
                    "name": "DalphaC",
                    "type": "synonym"
                },
                {
                    "name": "Dalphacat",
                    "type": "synonym"
                },
                {
                    "name": "Dmcatp",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17947",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17947",
                    "type": "synonym"
                },
                {
                    "name": "LD30423p",
                    "type": "synonym"
                },
                {
                    "name": "a-Cat",
                    "type": "synonym"
                },
                {
                    "name": "a-cat",
                    "type": "synonym"
                },
                {
                    "name": "alpha-CAT",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Cat",
                    "type": "synonym"
                },
                {
                    "name": "alpha-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-cat",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ctn",
                    "type": "synonym"
                },
                {
                    "name": "alphaCAT",
                    "type": "synonym"
                },
                {
                    "name": "alphaCatenin",
                    "type": "synonym"
                },
                {
                    "name": "alphaCat",
                    "type": "synonym"
                },
                {
                    "name": "alphacat",
                    "type": "synonym"
                }
            ],
            "record_id": "P35220-1",
            "evidence": [
                {
                    "id": "0061138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061138"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061138"
}