loading...| Preferred Name |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 |
| Synonyms |
SCAR23 |
| ID |
http://purl.bioontology.org/ontology/OMIM/616949 |
| altLabel |
SCAR23 |
| cui |
C4750914 |
| Gene Locus |
6p22.3-p22.1 |
| Gene Symbol |
TDP2 TTRAP |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU062009 http://purl.bioontology.org/ontology/OMIM/MTHU001686 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU051708 http://purl.bioontology.org/ontology/OMIM/MTHU062010 http://purl.bioontology.org/ontology/OMIM/MTHU000164 http://purl.bioontology.org/ontology/OMIM/MTHU001515 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU006699 http://purl.bioontology.org/ontology/OMIM/MTHU062008 http://purl.bioontology.org/ontology/OMIM/MTHU012868 http://purl.bioontology.org/ontology/OMIM/MTHU024399 http://purl.bioontology.org/ontology/OMIM/MTHU036340 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
616949 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 |
| Scope Statement |
Seizures may remit in childhood but then recur [MISCELLANEOUS] Caused by mutation in the tyrosyl-DNA phosphodiesterase 2 gene (TDP2, 605764.0001) [MOLECULAR BASIS] Onset of seizures in childhood (range infancy to 12 years) [MISCELLANEOUS] Some patients may become wheelchair-bound [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0014846 | Mondo Disease Ontology / Mondo疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0014846 | Experimental Factor Ontology / 实验性因素本体 | LOOM |