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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C565326
http://purl.bioontology.org/ontology/MESH/C565326
|
|---|---|
| Preferred Name | Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
|
|---|---|
| Scope Statement | autosomal dominant neurodegenerative disorder with mild chromosome instability and radiation sensitivity, short stature, mental retardation, depression, dysarthria, hyperreflexia, and ataxic gait.
|
| type | |
| tui | T047
|
| Has mapping qualifier | |
| HM |
D043171
D011836
D019636/Q000151
|
| SC | 3
|
| TERMUI | T830809
|
| TH | OMIM (2013)
|
| MMR | 20131106
|
| notation | C565326
|
| Semantic type UMLS property | |
| cui | C1854244
|
| MeSH Frequency | 0
|
| DSC | 20121105
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20121105
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |