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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C535731
http://purl.bioontology.org/ontology/MESH/C535731
|
|---|---|
| Preferred Name | Dysequilibrium syndrome |
| Synonyms |
CAMRQ1
Dysequilibrium Syndrome-Vldlr
Cerebellar disorder, nonprogressive, with mental retardation
Vldlr-Ch
Vldlrch
Chmrq1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Des-Vldlr
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive
Autosomal Recessive Cerebellar Ataxia with Mental Retardation
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification
Vldlr-Associated Cerebellar Hypoplasia
Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion
Cerebellar hypoplasia, VLDLR associated
Cerebellar Hypoplasia, VLDLR-Associated
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CAMRQ1
Dysequilibrium Syndrome-Vldlr
Cerebellar disorder, nonprogressive, with mental retardation
Vldlr-Ch
Vldlrch
Chmrq1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Des-Vldlr
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive
Autosomal Recessive Cerebellar Ataxia with Mental Retardation
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification
Vldlr-Associated Cerebellar Hypoplasia
Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion
Cerebellar hypoplasia, VLDLR associated
Cerebellar Hypoplasia, VLDLR-Associated
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|
|---|---|
| prefLabel | Dysequilibrium syndrome
|
| Scope Statement | PROM mutation in VLDLR gene
|
| type | |
| tui | T047
|
| HM |
D002524
D008607
|
| SC | 3
|
| TERMUI |
T842662
T842664
T737019
T842658
T842661
T842665
T823443
T842666
T823135
T842663
T842659
T737016
T801677
T801673
T842660
T737017
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|
| TH |
OMIM (2013)
NLM (2013)
GHR (2014)
ORD (2010)
|
| MMR | 20190618
|
| notation | C535731
|
| Semantic type UMLS property | |
| cui | C4551552
|
| MeSH Frequency | 66
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |