DiseaseID 862
ICF综合征
disease
JABL99:Variable immunodeficiency with centromeric instability of chromosomes 1, 9, 16 and, less frequently, chromosome 2. Manifestations vary and most common symptoms include facial dysmorphism, mental retardation and pr
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 5Symptom: 10Target: 23Links: 39
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 862
- Core Entity Id
- 968
- Source Entity Count
- 1
- Preferred Name
- Irak4 Deficiency
- Name Cn
- ICF综合征
- Name Pinyin
- Icf Zong He Zheng
- Name En
- ICF Syndrome
- 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
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- JABL99:Variable immunodeficiency with centromeric instability of chromosomes 1, 9, 16 and, less frequently, chromosome 2. Manifestations vary and most common symptoms include facial dysmorphism, mental retardation and prolonged respiratory, cutaneous, and gastrointestinal infections.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Irak4 Deficiency
Role
preferred
Name
Icf Syndrome
Role
preferred
Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Role
preferred
Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Role
preferred
Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Role
preferred
Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Role
preferred
Name
Immunodeficiency Syndrome, Variable
Role
preferred
Name
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Role
preferred
Name
Other Specified Immunodeficiencies
Role
preferred
Name
Pyogenic Bacterial Infections Due To Myd88 Deficiency
Role
preferred
Name
CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME
Role
alias
Name
CIID
Role
alias
Name
ICF1
Role
alias
Name
ICF2
Role
alias
Name
ICF3
Role
alias
Name
ICF4
Role
alias
Name
IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16
Role
alias
Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008823HBDIS009731HBDIS016011HBDIS021222HBDIS026351HBDIS026352HBDIS027235
Omim
242860607676614069616910616911
Umls
C0398788C1843256C2677092C3279748C4310798C4310799
Icd10
D84.8
Sym Map
SMDE01342SMDE01819SMDE02038SMDE02250SMDE02417SMDE03062SMDE04161SMDE05021
Do Class
DOID:630
Dis Ge Net
C0398788C0494266C1843256C3279748C4310798C4310799C4551557
Orphanet
183713226831960070592
Umls Sty
T047
Me Sh Class
C16C20
Etcm Disease
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4Irak4 Deficiency
Tcmbank Disease
1612716495210482243126588285115856
Itcmdb Generated
ITX-DISEASE-4B31EB36A75AITX-DISEASE-682DFAF48534ITX-DISEASE-78067B1E16E3ITX-DISEASE-D40CA66F323AITX-DISEASE-E49AF5105816
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 Details pageDisease Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 Details pageDisease Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 Details pageDisease Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 Details pageDisease Irak4 Deficiency Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Immune diseases
Disease Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Immune diseases;Mental diseases;Neuronal diseases
Disease Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Global Category
Genetic diseases
Anatomical Category
Immune diseases
Disease Name
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Global Category
Genetic diseases
Anatomical Category
Immune diseases
Disease Name
Irak4 Deficiency
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases;Neuronal diseases
Disease Definition
JABL99:Variable immunodeficiency with centromeric instability of chromosomes 1, 9, 16 and, less frequently, chromosome 2. Manifestations vary and most common symptoms include facial dysmorphism, mental retardation and prolonged respiratory, cutaneous, and gastrointestinal infections.Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selectivePyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasiveThe Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by char
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