DiseaseID 26292
Joubert综合征4型
Joubert Syndrome 4
NCI2016_02D:A rare genetic syndrome caused by mutations in the NPHP1 gene. It is characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, a
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Disease: 1Symptom: 3Target: 18Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26292
- Core Entity Id
- 118860
- Source Entity Count
- 1
- Preferred Name
- Joubert Syndrome 4
- Name Cn
- Joubert综合征4型
- Name Pinyin
- Joubert Zong He Zheng 4 Xing
- Name En
- Joubert Syndrome 4
- 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
- NCI2016_02D:A rare genetic syndrome caused by mutations in the NPHP1 gene. It is characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Joubert Syndrome 4
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1846790
Sym Map
SMDE02849
Etcm Disease
Joubert Syndrome 4
Itcmdb Generated
ITX-DISEASE-5D3FCF49E2B3
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Joubert Syndrome 4 Details page
Basic Information
Disease Name
Joubert Syndrome 4
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Definition
NCI2016_02D:A rare genetic syndrome caused by mutations in the NPHP1 gene. It is characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.