DiseaseID 2319
Omenn综合征
disease
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection
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: 1Experiment: 1Herb: 2Symptom: 12Target: 23Links: 39
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2319
- Core Entity Id
- 2611
- Source Entity Count
- 1
- Preferred Name
- Omenn Syndrome
- Name Cn
- Omenn综合征
- Name Pinyin
- Omenn Zong He Zheng
- Name En
- Omenn 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; Nutritional and Metabolic DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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; Nutritional and Metabolic Diseases; Immune System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of the immune system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Omenn Syndrome
Role
preferred
Name
Bare Lymphocyte Syndrome 2
Role
preferred
Name
Bare Lymphocyte Syndrome, Type Ii
Role
preferred
Name
Bare Lymphocyte Syndrome, Type Ii, Complementation Group A
Role
preferred
Name
Bare Lymphocyte Syndrome, Type Ii, Complementation Group B
Role
preferred
Name
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C
Role
preferred
Name
Bare Lymphocyte Syndrome, Type Ii, Complementation Group D
Role
preferred
Name
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E
Role
preferred
Name
Reticuloendotheliosis, Familial, With Eosinophilia
Role
preferred
Name
Severe Combined Immunodeficiency
Role
preferred
Name
Bare Lymphocyte Syndrome
Role
preferred
Name
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Role
preferred
Name
Other Combined Immunodeficiencies
Role
preferred
Name
BLS
Role
alias
Name
BLS, TYPE II
Role
alias
Name
Combined Immunodeficiency With Hypereosinophilia
Role
alias
Name
Immunodeficiency, Severe Combined
Role
alias
Name
Mhc Class Ii Deficiency
Role
alias
Name
SCID, HLA CLASS II-NEGATIVE
Role
alias
Name
SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
Role
alias
Name
SEVERE COMBINED IMMUNODEFICIENCY, HLA CLASS II-NEGATIVE
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0004430
Herb
HBDIS003243HBDIS005439HBDIS009699HBDIS017687HBDIS017688HBDIS017689HBDIS019630HBDIS020294HBDIS020384HBDIS028978HBDIS028979
Me Sh
D016511
Omim
209920603554
Umls
C0085110C1835931C1859534C1859535C1859536C1859537C1859538C2700553C2931418C2931884
Icd10
D81.8
Med Dra
10069097
Sym Map
SMDE00017SMDE00668SMDE03945SMDE06267SMDE06268SMDE06269SMDE06270SMDE06271SMDE06272SMDE12828SMDE13101
Do Class
DOID:7
Dis Ge Net
C0085110C0242583C0477324C1859534C1859535C1859536C1859537C1859538C2700553C2931418C2931884
Orphanet
23115439041
Umls Sty
T047
Hpo Class
HP:0002715
Me Sh Class
C15C16C18C20
Etcm Disease
Bare Lymphocyte Syndrome, Type Ii
Tcmbank Disease
175517941978724205281028201283282898634888372
Itcmdb Generated
ITX-DISEASE-0E5D1502CC45ITX-DISEASE-5259F439CF55ITX-DISEASE-85168DCEA96AITX-DISEASE-B4B6C4A8F50BITX-DISEASE-C70902253D4F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Bare Lymphocyte Syndrome, Type Ii Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
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 Syndrome
Basic Information
Disease Name
Bare Lymphocyte Syndrome, Type Ii
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Gastrointestinal Diseases;Immune diseases;Respiratory diseases;Skin diseases
Disease Definition
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infectionNCI2016_NICHD_1602D:X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004|NCI2016_NCI-GLOSS_1602D:A rare, inherited disease that is marked by a lack of B lymphocytes (white blood cells that make antibodies and help fight infections) and a lack of T lymphocytes (white blood cells that attack virus-infected cells, foreign cells, and cancer cells). Patients with this disease have a high risk of developing viral, bacterial, and fungal infections.|NCI2016_02D:X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004|MSH2017_2016_08_12:Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).|LNC256:Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes.|HPO2016_07_04:Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems. [HPO:curators]|CSP2006:group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels; it is inherited as an X-linked or autosomal recessive defect; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase.Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with se
Me Sh Disease Class
Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome