{ "disease_id": "DOID:0050997", "recommended_name": { "id": "DOID:0050997", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050997", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome", "description": "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia." }, "synonyms": [ { "id": "DOID:0050997", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050997", "name": "CAMRQ", "description": "" }, { "id": "DOID:0050997", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050997", "name": "Uner Tan syndrome", "description": "" }, { "id": "DOID:0050997", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050997", "name": "CAMRQ syndrome", "description": "" }, { "id": "DOID:0050997", "resource": "Disease Ontology", "url": 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"description": "" }, { "id": "MONDO:0024542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024542", "name": "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1", "description": "" }, { "id": "MONDO:0024542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024542", "name": "dysequilibrium syndrome caused by mutation in VLDLR", "description": "" }, { "id": "MONDO:0024542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024542", "name": "CAMRQ1", "description": "" }, { "id": "MONDO:0024542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024542", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1", "description": "" }, { "id": "MONDO:0024542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024542", "name": "cerebellar ataxia, congenital, and mental retardation, autosomal 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{ "name": "Car8", "type": "synonym" }, { "name": "Carp", "type": "synonym" }, { "name": "wdl", "type": "synonym" } ], "record_id": "P28651-1", "evidence": [ { "id": "0050997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050997" } ] }, { "uniprot_canonical_ac": "P98200-1", "uniprot_ac": "P98200", "uniprot_id": "AT8A2_MOUSE", "refseq_ac": "NP_056618", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phospholipid-transporting ATPase IB", "type": "recommended" }, { "name": "7.6.2.1", "type": "synonym" }, { "name": "ATPase 8A2, class I", "type": "synonym" }, { "name": "ATPase 8A2, p type", "type": "synonym" }, { "name": "ATPase class I type 8A member 2", "type": "synonym" }, { "name": "ATPase, class 1, member a", "type": "synonym" }, { "name": "P4-ATPase flippase complex alpha subunit ATP8A2", "type": 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"common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tubulin beta-3 chain", "type": "recommended" }, { "name": "Neuron-specific class III beta-tubulin", "type": "synonym" }, { "name": "neuron-specific class III beta-tubulin", "type": "synonym" }, { "name": "tubulin beta-3 chain", "type": "synonym" } ], "gene_names": [ { "name": "Tubb3", "type": "recommended" }, { "name": "Tubb3", "type": "synonym" } ], "record_id": "Q4QRB4-1", "evidence": [ { "id": "0050997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050997" } ] }, { "uniprot_canonical_ac": "P69897-1", "uniprot_ac": "P69897", "uniprot_id": "TBB5_RAT", "refseq_ac": "NP_775125", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tubulin beta-5 chain", "type": "recommended" }, { 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"gene_names": [ { "name": "Ca8", "type": "recommended" }, { "name": "Ca8", "type": "synonym" }, { "name": "Car8", "type": "synonym" } ], "record_id": "Q5PPN4-1", "evidence": [ { "id": "0050997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050997" } ] }, { "uniprot_canonical_ac": "A0A8I5ZQP3-1", "uniprot_ac": "A0A8I5ZQP3", "uniprot_id": "A0A8I5ZQP3_RAT", "refseq_ac": "XP_003751540", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phospholipid-transporting ATPase", "type": "recommended" }, { "name": "7.6.2.1", "type": "synonym" }, { "name": "phospholipid-transporting ATPase IB isoform X3", "type": "synonym" } ], "gene_names": [ { "name": "Atp8a2", "type": "recommended" }, { "name": "Atp8a2", "type": "synonym" }, { "name": "LOC691889", "type": "synonym" } ], "record_id": "A0A8I5ZQP3-1", "evidence": [ { "id": "0050997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050997" } ] }, { "uniprot_canonical_ac": "Q24560-1", "uniprot_ac": "Q24560", "uniprot_id": "TBB1_DROME", "refseq_ac": "NP_523795", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tubulin beta-1 chain", "type": "recommended" }, { "name": "Beta-1-tubulin", "type": "synonym" }, { "name": "CG9277-PB", "type": "synonym" }, { "name": "TUBULIN B-1 CHAIN", "type": "synonym" }, { "name": "b-tubulin56D", "type": "synonym" }, { "name": "beta tubulin", "type": "synonym" }, { "name": "beta-1 tubulin", "type": "synonym" }, { "name": "beta-1-tubulin", "type": "synonym" }, { "name": "beta-Tubulin 56D", "type": "synonym" }, { "name": "beta-Tubulin at 56 D", "type": "synonym" }, { "name": "beta-Tubulin at 56D, isoform B", "type": 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"CAH5", "type": "synonym" }, { "name": "CG18673", "type": "synonym" }, { "name": "Dmel\\CG18673", "type": "synonym" }, { "name": "Dmel_CG18673", "type": "synonym" } ], "record_id": "Q9V9Y6-1", "evidence": [ { "id": "0050997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050997" } ] }, { "uniprot_canonical_ac": "Q9VB76-1", "uniprot_ac": "Q9VB76", "uniprot_id": "Q9VB76_DROME", "refseq_ac": "NP_651535", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Carbonic anhydrase", "type": "recommended" }, { "name": "4.2.1.1", "type": "synonym" }, { "name": "CAH9-PA", "type": "synonym" }, { "name": "CG6074-PA", "type": "synonym" }, { "name": "caix", "type": "synonym" }, { "name": "carbonic anhydrase 9", "type": "synonym" }, { "name": "carbonic anhydrase IX", "type": "synonym" } ], 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