DiseaseID 1287
Job综合征
disease
2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
Relationship Network
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Disease: 1Herb: 2Symptom: 12Target: 23Links: 38
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1287
- Core Entity Id
- 1453
- Source Entity Count
- 1
- Preferred Name
- Job Syndrome
- Name Cn
- Job综合征
- Name Pinyin
- Job Zong He Zheng
- Name En
- Job 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; Hemic and Lymphatic DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesMusculoskeletal Diseases; Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- 2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Job Syndrome
Role
preferred
Name
Athabaskan Severe Combined Immunodeficiency
Role
preferred
Name
Autosomal Dominant Hyper-Ige Syndrome
Role
preferred
Name
Combined Immunodeficiency Due To Dock8 Deficiency
Role
preferred
Name
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
Role
preferred
Name
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive
Role
preferred
Name
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
Role
preferred
Name
Lig4 Syndrome
Role
preferred
Name
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Role
preferred
Name
Severe Combined Immunodeficiency, Athabaskan-Type
Role
preferred
Name
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Role
preferred
Name
Severe Combined Immunodeficiency, Partial
Role
preferred
Name
Cernunnos-Xlf Deficiency
Role
preferred
Name
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Role
preferred
Name
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
Role
preferred
Name
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
Role
preferred
Name
Severe Combined Immunodeficiency With Low T- And B-Cell Numbers
Role
preferred
Name
AD-HIES
Role
alias
Name
Autosomal Dominant HIES
Role
alias
Name
Autosomal Dominant Hyperimmunoglobulin E Syndrome
Role
alias
Name
Buckley Syndrome
Role
alias
Name
CID Due To DOCK8 Deficiency
Role
alias
Name
Combined Immunodeficiency Due To Dedicator Of Cytokinesis 8 Protein Deficiency
Role
alias
Name
DNA Ligase IV Deficiency
Role
alias
Name
DOCK8 Immunodeficiency Syndrome
Role
alias
Name
HIES, AUTOSOMAL DOMINANT
Role
alias
Name
HIES, AUTOSOMAL RECESSIVE
Role
alias
Name
HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT
Role
alias
Name
HYPER-IgE SYNDROME, AUTOSOMAL RECESSIVE
Role
alias
Name
Hyper Ige Recurrent Infection Syndrome 1
Role
alias
Name
Hyper Ige Recurrent Infection Syndrome 2
Role
alias
Name
Hyperimmunoglobulin E Syndrome Type 1
Role
alias
Name
Hyperimmunoglobulin E [Ige] Syndrome
Role
alias
Name
Hyperimmunoglobulin E-recurrent Infection Syndrome
Role
alias
Name
Ligase 4 Syndrome
Role
alias
Name
RS-SCID
Role
alias
Name
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
Role
alias
Name
SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
Role
alias
Name
SCIDA
Role
alias
Name
Severe Combined Immunodeficiency [Scid] With Low T- And B-Cell Numbers
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS009498HBDIS015054HBDIS016415HBDIS018214HBDIS018215HBDIS018216HBDIS018217HBDIS018688HBDIS020429HBDIS021457HBDIS022732HBDIS027773HBDIS027825
Me Sh
D007589
Omim
147060243700601457602450606593
Umls
C1832322C1847827C1865370C1865371C1865372C1865373C1968689C2936739C3489795C3887645
Icd10
D81.1D82.4
Sym Map
SMDE01122SMDE01261SMDE01812SMDE02068SMDE02296SMDE04966SMDE05096SMDE05127SMDE06114SMDE09580SMDE10121SMDE13104SMDE13106
Do Class
DOID:630DOID:7
Dis Ge Net
C0451693C1832322C1847827C1865370C1865371C1865372C1865373C1968689C2936739C3489795C3887645C4721531C4722305
Orphanet
169079217390231499812
Umls Sty
T047
Me Sh Class
C05C15C16C18C20C23
Etcm Disease
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal DominantHyper-Ige Recurrent Infection Syndrome 2, Autosomal RecessiveLig4 Syndrome
Tcmbank Disease
1104013849155951726118178184222330424951249802755328450324295161
Itcmdb Generated
ITX-DISEASE-07678DCB2F56ITX-DISEASE-0EDE16B0D7F7ITX-DISEASE-3B38C542C661ITX-DISEASE-3F23E4C7E5F4ITX-DISEASE-71A88877FCAAITX-DISEASE-CA1CF897148CITX-DISEASE-F3743B3C0CEFITX-DISEASE-FDA309D5BB38
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant Details pageDisease Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive Details pageDisease Lig4 Syndrome Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Skin diseases
Disease Name
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Skin diseases
Disease Name
Lig4 Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Definition
2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skMSH2017_2016_08_12:Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.SNOMEDCT_US_2016_09_01:A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.|SNOMEDCT_US_2016_09_01:A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.
Me Sh Disease Class
Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesMusculoskeletal Diseases; Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
Umls Semantic Type Name
Disease or Syndrome