DiseaseID 4380
卡恩斯-塞尔综合征
disease
Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional feat
Relationship Network
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Disease: 1Formula: 12Symptom: 4Target: 24Links: 40
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4380
- Core Entity Id
- 60720
- Source Entity Count
- 1
- Preferred Name
- Kearns-Sayre Syndrome
- Name Cn
- 卡恩斯-塞尔综合征
- Name Pinyin
- Ka En Si - Sai Er Zong He Zheng
- Name En
- Kearns-Sayre Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity
- Disease Definition
- Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional feat
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Kearns-Sayre Syndrome
Role
preferred
Name
Mitochondrial Cytopathy
Role
preferred
Name
Sayre Syndrome, Kearns
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001596HBDIS020392
Me Sh
D007625
Omim
530000
Umls
C0022541C2931928
Icd10
H49.8
Med Dra
10048804
Sym Map
SMDE04482SMDE11037
Do Class
DOID:7
Dis Ge Net
C0022541C2931928
Orphanet
480
Umls Sty
T047
Me Sh Class
C05C10C11C14C18C23
Etcm Disease
Kearns-Sayre Syndrome
Tcmbank Disease
23959911
Itcmdb Generated
ITX-DISEASE-3C86F3C8B6B2
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Kearns-Sayre Syndrome Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Kearns-Sayre Syndrome
Global Category
Fetal diseases;Metabolic diseases;Rare diseases
Anatomical Category
Ear diseases;Endocrine diseases;Eye diseases;Muscle diseases;Neuronal diseases
Disease Definition
Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional feat
Me Sh Disease Class
Cardiovascular Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome