DiseaseID 9299
腺苷脱氨酶缺乏症
disease
NCI2016_02D:An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of a
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Disease: 1Symptom: 5Target: 12Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9299
- Core Entity Id
- 66352
- Source Entity Count
- 1
- Preferred Name
- Adenosine Deaminase Deficiency
- Name Cn
- 腺苷脱氨酶缺乏症
- Name Pinyin
- Xian Gan Tuo An Mei Que Fa Zheng
- Name En
- Adenosine Deaminase Deficiency
- 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
- 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
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Adenosine Deaminase Deficiency
Role
preferred
Name
Partial Adenosine Deaminase Deficiency
Role
preferred
Name
Scid Due To Ada Deficiency, Early-Onset
Role
preferred
Name
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Role
preferred
Name
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Role
preferred
Name
ADA-SCID
Role
alias
Name
ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
Role
alias
Name
Adenosine Deaminase [Ada] Deficiency
Role
alias
Name
PARTIAL ADA DEFICIENCY
Role
alias
Name
SCID DUE TO ADA DEFICIENCY
Role
alias
Name
SCID DUE TO ADA DEFICIENCY, DELAYED ONSET
Role
alias
Name
SCID DUE TO ADA DEFICIENCY, LATE-ONSET
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006185HBDIS008630HBDIS018009HBDIS018010
Omim
102700
Umls
C0268124C0392607C1863236C1863239
Icd10
D81.3
Sym Map
SMDE02742SMDE05526SMDE11975SMDE12990SMDE13102
Do Class
DOID:7
Dis Ge Net
C0268124C0392607C1863236C1863239
Umls Sty
T047
Me Sh Class
C15C16C18C20
Tcmbank Disease
14153188142341298
Itcmdb Generated
ITX-DISEASE-352582857B89
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.
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