DiseaseID 11769
6-丙酮酰四氢蝶呤合酶缺乏症
disease
Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of n
Relationship Network
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Disease: 1Symptom: 11Target: 4Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11769
- Core Entity Id
- 69194
- Source Entity Count
- 1
- Preferred Name
- 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
- Name Cn
- 6-丙酮酰四氢蝶呤合酶缺乏症
- Name Pinyin
- 6- Bing Tong Xian Si Qing Die Ling He Mei Que Fa Zheng
- Name En
- 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of n
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Role
preferred
Name
Dihydropteridine Reductase Deficiency
Role
preferred
Name
Bh4-Deficient Hyperphenylalaninemia A
Role
alias
Name
Hyperphenylalaninemia, Bh4-Deficient, A
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS012343
Omim
261640
Umls
C0878676C2936906
Icd10
E70.1
Sym Map
SMDE01889SMDE02164
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0878676
Orphanet
13226
Umls Sty
T047
Me Sh Class
C10C16C18
Tcmbank Disease
9517
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of n
Me Sh Disease Class
Nervous 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; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome