DiseaseID 7554
挪威型胆汁淤积-水肿综合征
disease
NCI2016_02D:A rare genetic syndrome which occurs primarily among individuals of Norwegian descent with an autosomal recessive pattern of inheritance. It is caused, in some cases, by the inheritance of a mutation of the L
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Disease: 1Symptom: 5Target: 4Links: 9
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7554
- Core Entity Id
- 64366
- Source Entity Count
- 1
- Preferred Name
- Cholestasis-Edema Syndrome, Norwegian Type
- Name Cn
- 挪威型胆汁淤积-水肿综合征
- Name Pinyin
- Nuo Wei Xing Dan Zhi Yu Ji - Shui Zhong Zong He Zheng
- Name En
- Cholestasis-Edema Syndrome, Norwegian Type
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Hemic and Lymphatic Diseases
- Do Class
- syndrome
- Hpo Class
- Mesh Class Name
- Digestive System Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- syndrome
- Disease Definition
- NCI2016_02D:A rare genetic syndrome which occurs primarily among individuals of Norwegian descent with an autosomal recessive pattern of inheritance. It is caused, in some cases, by the inheritance of a mutation of the LSC1 gene on chromosome 15. Clinical signs include lymphedema of the lower extremities and cholestasis. The clinical course includes giant-cell hepatitis and progression to cirrhosis.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cholestasis-Edema Syndrome, Norwegian Type
Role
preferred
Name
Aagenaes Syndrome
Role
alias
Name
Cholestasis-Lymphedema Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006255
Umls
C0268314
Sym Map
SMDE07052
Do Class
DOID:225
Dis Ge Net
C0268314
Umls Sty
T047
Me Sh Class
C06C15
Tcmbank Disease
2308
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
syndrome
Disease Type
disease
Do Disease Class
syndrome
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A rare genetic syndrome which occurs primarily among individuals of Norwegian descent with an autosomal recessive pattern of inheritance. It is caused, in some cases, by the inheritance of a mutation of the LSC1 gene on chromosome 15. Clinical signs include lymphedema of the lower extremities and cholestasis. The clinical course includes giant-cell hepatitis and progression to cirrhosis.
Me Sh Disease Class
Digestive System Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Digestive System Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome