DiseaseID 7387
小脑发育不良
disease
NCI2016_02D:Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties
Relationship Network
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Disease: 1Symptom: 1Target: 23Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7387
- Core Entity Id
- 64173
- Source Entity Count
- 1
- Preferred Name
- Cerebellar Hypoplasia
- Name Cn
- 小脑发育不良
- Name Pinyin
- Xiao Nao Fa Yu Bu Liang
- Name En
- Cerebellar Hypoplasia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- Disease Definition
- NCI2016_02D:Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.|HPO2016_07_04:Underdevelopment of the cerebellum. [HPO:probinson]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cerebellar Hypoplasia
Role
preferred
Name
Congenital Cerebellar Hypoplasia
Role
alias
Name
Hypoplasia of Cerebellum
Role
alias
Name
Hypoplastic Cerebellum
Role
alias
Name
Small Cerebellum
Role
alias
Name
Underdeveloped Cerebellum
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001321
Herb
HBDIS006007
Omim
213000
Umls
C0266470
Sym Map
SMDE06870
Dis Ge Net
C0266470
Umls Sty
T019
Hpo Class
HP:0000707
Me Sh Class
C10C16F03
Etcm Disease
Cerebellar Hypoplasia
Tcmbank Disease
29359
Itcmdb Generated
ITX-DISEASE-CA2A2EBA621E
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Cerebellar Hypoplasia Details page
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Congenital Abnormality
Basic Information
Disease Name
Cerebellar Hypoplasia
Global Category
Fetal diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
NCI2016_02D:Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.|HPO2016_07_04:Underdevelopment of the cerebellum. [HPO:probinson]
Me Sh Disease Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
Umls Semantic Type Name
Congenital Abnormality