DiseaseID 8919
补体成分5缺乏症
disease
NCI2016_02D:A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired
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Disease: 1Herb: 1Target: 19Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 8919
- Core Entity Id
- 65918
- Source Entity Count
- 1
- Preferred Name
- Complement Component 5 Deficiency
- Name Cn
- 补体成分5缺乏症
- Name Pinyin
- Bu Ti Cheng Fen 5 Que Fa Zheng
- Name En
- Complement Component 5 Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- disease of anatomical entity
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Complement Component 5 Deficiency
Role
preferred
Name
C5 DEFICIENCY
Role
alias
Name
C5D
Role
alias
Name
Seborrhoeic Infantile Dermatitis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008118
Omim
609536
Umls
C0343047
Icd10
L21.1
Sym Map
SMDE04279
Do Class
DOID:7
Dis Ge Net
C0343047
Umls Sty
T047
Me Sh Class
C16C20
Etcm Disease
Complement Component 5 Deficiency
Tcmbank Disease
16136
Itcmdb Generated
ITX-DISEASE-A39421365DA2
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Complement Component 5 Deficiency 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
Complement Component 5 Deficiency
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Immune diseases;Skin diseases
Disease Definition
NCI2016_02D:A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.
Me Sh Disease Class
Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
Umls Semantic Type Name
Disease or Syndrome