DiseaseID 16070
Majeed综合征
disease
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-
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Disease: 1Herb: 12Symptom: 12Target: 20Links: 48
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 16070
- Core Entity Id
- 74090
- Source Entity Count
- 1
- Preferred Name
- Majeed Syndrome
- Name Cn
- Majeed综合征
- Name Pinyin
- Majeed Zong He Zheng
- Name En
- Majeed Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Infections; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Majeed Syndrome
Role
preferred
Name
Blau Syndrome
Role
preferred
Name
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Role
preferred
Name
CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS, CONGENITAL DYSERYTHROPOIETIC ANEMIA, AND NEUTROPHILIC DERMATOSIS
Role
alias
Name
Chronic Recurrent Multifocal Osteomyelitis-congenital Dyserythropoietic Anemia-neutrophilic Dermatosis Syndrome
Role
alias
Name
MJDS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS018165
Omim
609628
Umls
C1861303C1864997C2748507
Icd10
M04.8
Med Dra
1007175510072223
Sym Map
SMDE00989SMDE01160SMDE02457
Dis Ge Net
C1864997
Orphanet
7729790340
Umls Sty
T047
Me Sh Class
C01C05C15C16C20
Etcm Disease
Blau SyndromeMajeed Syndrome
Tcmbank Disease
12678
Itcmdb Generated
ITX-DISEASE-1483420A98A9ITX-DISEASE-6BDA08B7476B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Blau Syndrome Details pageDisease Majeed Syndrome Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Blau Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Respiratory diseases;Skin diseases
Disease Name
Majeed Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Skin diseases
Disease Definition
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermNCI2016_NICHD_1602D:An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.|NCI2016_02D:An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.
Me Sh Disease Class
Infections; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome