DiseaseID 5113
结节病
disease
MSH2017_2016_08_12:A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.
Relationship Network
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Disease: 1Experiment: 3Herb: 2Symptom: 12Target: 23Links: 41
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5113
- Core Entity Id
- 61561
- Source Entity Count
- 1
- Preferred Name
- Sarcoidosis
- Name Cn
- 结节病
- Name Pinyin
- Jie Jie Bing
- Name En
- Sarcoidosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System DiseasesHemic and Lymphatic DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmune System Diseases; Hemic and Lymphatic DiseasesRespiratory Tract Diseases; Hemic and Lymphatic DiseasesSkin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the immune system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System DiseasesDigestive System DiseasesHemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic DiseasesRespiratory Tract Diseases; Hemic and Lymphatic DiseasesSkin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of the immune system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- MSH2017_2016_08_12:A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Sarcoidosis
Role
preferred
Name
Complement Component 2 Deficiency
Role
preferred
Name
Complement Component 4A Deficiency
Role
preferred
Name
Complement Component 6 Deficiency
Role
preferred
Name
Complement Component 7 Deficiency
Role
preferred
Name
Complement Component 8 Deficiency, Type I
Role
preferred
Name
Complement Component 8 Deficiency, Type Ii
Role
preferred
Name
Sarcoidosis, Pulmonary
Role
preferred
Name
Uveoparotid Fever
Role
preferred
Name
C9 Deficiency
Role
preferred
Name
Complement Deficiency Disease
Role
preferred
Name
Cutaneous Sarcoidosis
Role
preferred
Name
Decreased Serum Complement C4B
Role
preferred
Name
Hepatic Granuloma
Role
preferred
Name
Sarcoidosis, Susceptibility To, 2
Role
preferred
Name
C2 DEFICIENCY
Role
alias
Name
C2D
Role
alias
Name
C4A DEFICIENCY
Role
alias
Name
C4AD
Role
alias
Name
C4B Deficiency
Role
alias
Name
C6 DEFICIENCY
Role
alias
Name
C6 DEFICIENCY, SUBTOTAL
Role
alias
Name
C6D
Role
alias
Name
C7 DEFICIENCY
Role
alias
Name
C7D
Role
alias
Name
C8 ALPHA-GAMMA DEFICIENCY
Role
alias
Name
C8 BETA DEFICIENCY
Role
alias
Name
C8 DEFICIENCY, TYPE I
Role
alias
Name
C8 DEFICIENCY, TYPE II
Role
alias
Name
C8AG DEFICIENCY
Role
alias
Name
C8B DEFICIENCY
Role
alias
Name
C8D1
Role
alias
Name
C8D2
Role
alias
Name
COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL
Role
alias
Name
COMPLEMENT COMPONENT 8B DEFICIENCY
Role
alias
Name
Complement Component 4B Deficiency
Role
alias
Name
Complement Component 9 Deficiency
Role
alias
Name
Complement Deficiency
Role
alias
Name
Defects In The Complement System
Role
alias
Name
Pulmonary Sarcoidosis
Role
alias
Name
Sarcoidosis of Lung
Role
alias
Name
Sarcoidosis of Skin
Role
alias
Name
Sarcoidosis, Unspecified
Role
alias
Name
Skin Sarcoidosis
Role
alias
Name
Type I Complement Component 8 Deficiency
Role
alias
Name
Type Ii Complement Component 8 Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0004431HP:0045044
Herb
HBDIS002668HBDIS002669HBDIS002670HBDIS003081HBDIS006744HBDIS010955HBDIS018114HBDIS019434HBDIS020624HBDIS020761HBDIS020762HBDIS021325HBDIS021326HBDIS029134HBDIS029278
Me Sh
D014608D017565
Omim
181000217000610102612387612446613789613790613825614379614380
Umls
C0036205C0042171C1864694C2676232C2676233C3150275C3151080C3151081C3280642
Icd10
D84.1D86.0D86.1D86.2D86.3D86.8D86.89
Med Dra
10039486
Sym Map
SMDE00508SMDE01123SMDE01680SMDE02285SMDE02733SMDE02979SMDE04905SMDE12953SMDE14168
Do Class
DOID:7
Dis Ge Net
C0036202C0036203C0036205C0042171C0272242C0745754C1864694C2676232C2676468C3150275C3151080C3151081C3151189C3280641C3280642
Orphanet
797
Umls Sty
T033T047
Hpo Class
HP:0002715
Me Sh Class
C06C08C15C16C17C20
Etcm Disease
Complement Component 2 DeficiencyComplement Component 4a DeficiencyComplement Component 6 DeficiencyComplement Component 7 DeficiencyComplement Component 8 Deficiency, Type IComplement Component 8 Deficiency, Type Ii
Tcmbank Disease
1174212014220142911588918382184522097223168301853351424659908574
Itcmdb Generated
ITX-DISEASE-21DF04076A98ITX-DISEASE-2B764D9F5E0FITX-DISEASE-7E4B8A34AE05ITX-DISEASE-9A733B3D5C76ITX-DISEASE-ACE36EC4E482ITX-DISEASE-B1E2AC053300ITX-DISEASE-D766B7416C30
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Complement Component 2 Deficiency Details pageDisease Complement Component 4a Deficiency Details pageDisease Complement Component 6 Deficiency Details pageDisease Complement Component 7 Deficiency Details pageDisease Complement Component 8 Deficiency, Type I Details pageDisease Complement Component 8 Deficiency, Type Ii Details page
Do Class Name
disease of anatomical entity
Disease Type
diseasegroup
Hpo Class Name
Abnormality of the immune system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the immune system
Umls Disease Type
Disease or SyndromeFinding
Basic Information
Disease Name
Complement Component 2 Deficiency
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Immune diseases;Neuronal diseases
Disease Name
Complement Component 4a Deficiency
Global Category
Genetic diseases
Anatomical Category
Immune diseases
Disease Name
Complement Component 6 Deficiency
Global Category
Genetic diseases
Anatomical Category
Immune diseases
Disease Name
Complement Component 7 Deficiency
Global Category
Genetic diseases
Anatomical Category
Immune diseases
Disease Name
Complement Component 8 Deficiency, Type I
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Immune diseases
Disease Name
Complement Component 8 Deficiency, Type Ii
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Immune diseases
Disease Definition
MSH2017_2016_08_12:A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.NCI2016_02D:Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.|MSH2017_2016_08_12:Sarcoidosis affecting predominantly the lungs, the site most frequently involved and most commonly causing morbidity and mortality in sarcoidosis. Pulmonary sarcoidosis is characterized by sharply circumscribed granulomas in the alveolar, bronchial, and vascular walls, composed of tightly packed cells derived from the mononuclear phagocyte system. The clinical symptoms when present are dyspnea upon exertion, nonproductive cough, and wheezing. (Cecil Textbook of Medicine, 19th ed, p431)NCI2016_NICHD_1602D:Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop a systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.|NCI2016_02D:Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.
Me Sh Disease Class
Digestive System DiseasesHemic and Lymphatic DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmune System Diseases; Hemic and Lymphatic DiseasesRespiratory Tract Diseases; Hemic and Lymphatic DiseasesSkin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System DiseasesDigestive System DiseasesHemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic DiseasesRespiratory Tract Diseases; Hemic and Lymphatic DiseasesSkin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome