{
    "disease_id": "DOID:0050998",
    "recommended_name": {
        "id": "DOID:0050998",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050998",
        "name": "nonprogressive cerebellar ataxia with mental retardation",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013886",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "name": "cerebellar dysfunction with variable cognitive and behavioral abnormalities",
            "description": "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)."
        },
        {
            "id": "MONDO:0013886",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "name": "CAMTA1-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0013886",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "name": "CANPMR",
            "description": ""
        },
        {
            "id": "MONDO:0013886",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "name": "cerebellar ataxia, nonprogressive, with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013886",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "name": "cerebellar ataxia, nonprogressive, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0013886",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "name": "cerebellar dysfunction with variable cognitive and behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0013886",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "name": "non-progressive cerebellar ataxia with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013886",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "name": "nonprogressive cerebellar ataxia with intellectual disability",
            "description": ""
        },
        {
            "id": "MIM:614756",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614756",
            "name": "Cerebellar dysfunction with variable cognitive and behavioral abnormalities",
            "description": "Cerebellar dysfunction with variable cognitive and behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050998"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050998",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050998",
            "categories": []
        },
        {
            "id": "MONDO:0013886",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013886",
            "categories": []
        },
        {
            "id": "MIM:614756",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614756",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GTS1-1",
            "uniprot_ac": "A0AC58GTS1",
            "uniprot_id": "A0AC58GTS1_DANRE",
            "refseq_ac": "XP_073773133",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-binding transcription activator 1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-binding transcription activator 1 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "camta1b",
                    "type": "recommended"
                },
                {
                    "name": "camta1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GTS1-1",
            "evidence": [
                {
                    "id": "0050998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9P5K3-1",
            "uniprot_ac": "A0A8M9P5K3",
            "uniprot_id": "A0A8M9P5K3_DANRE",
            "refseq_ac": "XP_021325677",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-binding transcription activator 1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-binding transcription activator 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "camta1a",
                    "type": "recommended"
                },
                {
                    "name": "camta1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P5K3-1",
            "evidence": [
                {
                    "id": "0050998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A891-1",
            "uniprot_ac": "A2A891",
            "uniprot_id": "CMTA1_MOUSE",
            "refseq_ac": "NP_001075026",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-binding transcription activator 1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-binding transcription activator 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camta1",
                    "type": "recommended"
                },
                {
                    "name": "1810059M14Rik",
                    "type": "synonym"
                },
                {
                    "name": "2310058O09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Camta1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0833",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0833",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A891-1",
            "evidence": [
                {
                    "id": "0050998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6Y1-1",
            "uniprot_ac": "Q9Y6Y1",
            "uniprot_id": "CMTA1_HUMAN",
            "refseq_ac": "NP_001182492",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-binding transcription activator 1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-binding transcription activator 1 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAMTA1",
                    "type": "recommended"
                },
                {
                    "name": "CAMTA1",
                    "type": "synonym"
                },
                {
                    "name": "CANPMR",
                    "type": "synonym"
                },
                {
                    "name": "CECBA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0833",
                    "type": "synonym"
                },
                {
                    "name": "MSTP023",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6Y1-1",
            "evidence": [
                {
                    "id": "614756",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614756"
                },
                {
                    "id": "0050998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G9L6-1",
            "uniprot_ac": "A0A8I6G9L6",
            "uniprot_id": "A0A8I6G9L6_RAT",
            "refseq_ac": "NP_001182488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-binding transcription activator 1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-binding transcription activator 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camta1",
                    "type": "recommended"
                },
                {
                    "name": "Camta1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6G9L6-1",
            "evidence": [
                {
                    "id": "0050998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZU4-1",
            "uniprot_ac": "B7YZU4",
            "uniprot_id": "B7YZU4_DROME",
            "refseq_ac": "NP_001137624",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42332-PF",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-binding transcription activator, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-binding transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Camta-PF",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-binding transcription activator",
                    "type": "synonym"
                },
                {
                    "name": "croaker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camta",
                    "type": "recommended"
                },
                {
                    "name": "CG13952",
                    "type": "synonym"
                },
                {
                    "name": "CG13953",
                    "type": "synonym"
                },
                {
                    "name": "CG42332",
                    "type": "synonym"
                },
                {
                    "name": "CG8809",
                    "type": "synonym"
                },
                {
                    "name": "Camta",
                    "type": "synonym"
                },
                {
                    "name": "DmCAMTA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42332",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42332",
                    "type": "synonym"
                },
                {
                    "name": "camta",
                    "type": "synonym"
                },
                {
                    "name": "cro",
                    "type": "synonym"
                },
                {
                    "name": "dCAMTA",
                    "type": "synonym"
                },
                {
                    "name": "tes",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZU4-1",
            "evidence": [
                {
                    "id": "0050998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050998"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050998"
}