DiseaseID 32006

RNU12突变所致先天性小脑性共济失调

Congenital Cerebellar Ataxia Due to Rnu12 Mutation

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Relationship Network

Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Target: 15Links: 24
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Record Fields

Scalar fields from the final disease record.

Disease Id
32006
Core Entity Id
191940
Source Entity Count
1
Preferred Name
Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Name Cn
RNU12突变所致先天性小脑性共济失调
Name Pinyin
Rnu12 Tu Bian Suo Zhi Xian Tian Xing Xiao Nao Xing Gong Ji Shi Tiao
Name En
Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Name Latin
Bilingual Status
complete
Disease Type
Umls Disease Type
Disgenet Type
Mesh Class
Do Class
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
Disease Definition
Version
Suppressed

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Role
preferred
Source
ETCM_v2
Preferred
Yes

Cross References

Trusted external identifiers retained for this final record.

Etcm Disease
Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Itcmdb Generated
ITX-DISEASE-835B7E1FDEBA

Attributes

Merged source attributes and domain-specific metadata.

Page Title
Disease Congenital Cerebellar Ataxia Due to Rnu12 Mutation Details page
Basic Information
Disease Name
Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases