DiseaseID 4438
HPRT相关性痛风
disease
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated wi
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Disease: 1Symptom: 8Target: 16Links: 32
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4438
- Core Entity Id
- 60785
- Source Entity Count
- 1
- Preferred Name
- Gout, Hprt-Related
- Name Cn
- HPRT相关性痛风
- Name Pinyin
- Hprt Xiang Guan Xing Tong Feng
- Name En
- Gout, Hprt-Related
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesNervous 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; Musculoskeletal DiseasesCongenital, 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
- Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated wi
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gout, Hprt-Related
Role
preferred
Name
Hprt Deficiency, Neurologic Variant
Role
preferred
Name
Lesch-Nyhan Syndrome
Role
preferred
Name
Lesch-Nyhan Syndrome, Neurologic Variant
Role
preferred
Name
HPRT Complete Deficiency
Role
alias
Name
HPRT DEFICIENCY
Role
alias
Name
HPRT DEFICIENCY, COMPLETE
Role
alias
Name
HPRT Deficiency Grade IV
Role
alias
Name
HPRT1 DEFICIENCY
Role
alias
Name
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY
Role
alias
Name
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency
Role
alias
Name
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade IV
Role
alias
Name
Kelley-Seegmiller Syndrome
Role
alias
Name
LNS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001691HBDIS006179HBDIS016252
Me Sh
D007926
Omim
300322300323308950
Umls
C0023374C1845892
Icd10
E79.1
Med Dra
10057589
Sym Map
SMDE00522SMDE09537
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0023374C0268117C1845892
Orphanet
510
Umls Sty
T047
Me Sh Class
C05C10C16C18
Etcm Disease
Lesch-Nyhan Syndrome
Tcmbank Disease
1334461429336
Itcmdb Generated
ITX-DISEASE-E70B75BC92DD
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Lesch-Nyhan Syndrome Details page
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
Basic Information
Disease Name
Lesch-Nyhan Syndrome
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Nephrological diseases;Neuronal diseases
Disease Definition
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated wi
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesNervous 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; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome