DiseaseID 7521
嘌呤核苷磷酸化酶缺乏症
disease
NCI2016_02D:PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme
Relationship Network
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Disease: 1Symptom: 4Target: 2Links: 6
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7521
- Core Entity Id
- 64323
- Source Entity Count
- 1
- Preferred Name
- Purine-Nucleoside Phosphorylase Deficiency
- Name Cn
- 嘌呤核苷磷酸化酶缺乏症
- Name Pinyin
- Piao Ling He Gan Lin Suan Hua Mei Que Fa Zheng
- Name En
- Purine-Nucleoside Phosphorylase 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 Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme is an autosomal recessive cause of combined immunodeficiency.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Purine-Nucleoside Phosphorylase Deficiency
Role
preferred
Name
Purine Nucleoside Phosphorylase Deficiency
Role
preferred
Name
NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Role
alias
Name
Purine Nucleoside Phosphorylase [Pnp] Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006186
Omim
613179
Umls
C0268125
Icd10
D81.5
Sym Map
SMDE03474
Do Class
DOID:630DOID:7
Dis Ge Net
C0268125
Umls Sty
T047
Me Sh Class
C16C18C20
Tcmbank Disease
30711
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
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
Disease Definition
NCI2016_02D:PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme is an autosomal recessive cause of combined immunodeficiency.
Me Sh Disease Class
Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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 Diseases
Umls Semantic Type Name
Disease or Syndrome