Disease Browser
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Parent Node:
Spinocerebellar Degenerations (D013132) | ..Starting node .. Spinocerebellar ataxia 8 (C537307)
| Child Nodes:
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Sister Nodes: | .. Corneal cerebellar syndrome (C535472)
| .. Friedreich Ataxia (D005621) 6 C:1
| .. Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
| .. Hereditary spinal ataxia (C531684)
| .. Infantile onset spinocerebellar ataxia (C535523) 1 C:1
| .. LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
| .. Mousa Al din Al Nassar syndrome (C536989)
| .. Myoclonic Cerebellar Dyssynergia (D002527) 1
| .. Olivopontocerebellar Atrophies (D009849) 15 C:1
| .. Posterior column ataxia (C536342)
| .. Sensorimotor neuropathy with ataxia, autosomal dominant (C537197)
| .. Spinocerebellar ataxia 19 (C537198)
| .. Spinocerebellar ataxia 21 (C537200)
| .. Spinocerebellar ataxia 22 (C542540)
| .. Spinocerebellar ataxia 23 (C537201)
| .. Spinocerebellar ataxia 27 (C537204)
| .. Spinocerebellar Ataxia 29 (C537206)
| .. Spinocerebellar ataxia 8 (C537307)
| .. Spinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
| .. Spinocerebellar ataxia, autosomal recessive 3 (C537309)
| .. Spinocerebellar ataxia, autosomal recessive 4 (C537310)
| .. Spinocerebellar ataxia, autosomal recessive 5 (C537311)
| .. Spinocerebellar ataxia, autosomal recessive 6 (C537312)
| .. Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
| .. Spinocerebellar ataxia, X-linked, 2 (C537314)
| .. Spinocerebellar ataxia, X-linked, 4 (C537316)
| .. Spinocerebellar Ataxias (D020754) 34 C:2
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 11559 |
Name: | Spinocerebellar ataxia 8 |
Definition: | |
Alternative IDs: | OMIM:608768 |
ParentIDs: | MESH:D013132 |
TreeNumbers: | C10.228.140.252.700/C537307 |C10.228.854.787/C537307 |C10.574.500.825/C537307 |C16.320.400.780/C537307 |
Synonyms: | SCA8 |
Slim Mappings: | Genetic disease (inborn)|Nervous system disease |
Reference: |
MedGen: C537307
MeSH: C537307
OMIM: 608768; MSeqDR : Genes: ATXN8; ATXN8OS; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NR_002717.2(ATXN8OS):n.1103CTG[(15_40)] | -1 | ATXN8;LOC109461478;ATXN8OS | Benign | -1 | RCV001260914; | N | MONDO:MONDO:0012116,MedGen:C1837454,OMIM:608768, Orphanet:98760 | 13 | 70713516 | 70713518 | na | na | -1 | OMIM:603680.0001,OMIM:613289.0001 | | |
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