DiseaseID 4278
草酸盐沉积症
disease
MSH2017_2016_08_12:An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the S
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Disease: 1Symptom: 12Target: 23Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4278
- Core Entity Id
- 60603
- Source Entity Count
- 1
- Preferred Name
- Oxalosis
- Name Cn
- 草酸盐沉积症
- Name Pinyin
- Cao Suan Yan Chen Ji Zheng
- Name En
- Oxalosis
- 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 DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- MSH2017_2016_08_12:An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Oxalosis
Role
preferred
Name
Transaldolase Deficiency
Role
preferred
Name
Hyperoxaluria
Role
preferred
Name
Hyperoxaluria, Primary, Type I
Role
preferred
Name
Primary Hyperoxaluria
Role
preferred
Name
Primary Hyperoxaluria Type 2
Role
preferred
Name
Primary Hyperoxaluria Type 3
Role
preferred
Name
Primary Hyperoxaluria Type Iii
Role
preferred
Name
Renal Glucosuria
Role
preferred
Name
EYAID SYNDROME
Role
alias
Name
High Urine Oxalate Levels
Role
alias
Name
Hyperoxaluria, Primary
Role
alias
Name
Hyperoxaluria, Primary, Type Ii
Role
alias
Name
Hyperoxaluria, Primary, Type Iii
Role
alias
Name
Increased Level of Oxalate In Urine
Role
alias
Name
TALDO Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003159
Herb
HBDIS001449HBDIS001450HBDIS006206HBDIS013261HBDIS013303HBDIS020695
Me Sh
D006959D006960
Omim
260000606003613616
Umls
C0017980C0268164C0268165C1291329
Icd10
E74.8
Sym Map
SMDE01600SMDE02839SMDE04264SMDE04670SMDE05051
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0020500C0020501C0268165C1291329C1298681C3150878
Orphanet
101028935989359993600
Umls Sty
T047
Hpo Class
HP:0000119HP:0001939
Me Sh Class
C12C13C16C18
Etcm Disease
Hyperoxaluria, Primary, Type I
Tcmbank Disease
11451207742211248522768857469265
Itcmdb Generated
ITX-DISEASE-170821B4CEEDITX-DISEASE-6D563241C155
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Hyperoxaluria, Primary, Type I Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hyperoxaluria, Primary, Type I
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases
Disease Definition
MSH2017_2016_08_12:An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.NCI2016_NICHD_1602D:Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency.|NCI2016_02D:Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency.(NICHD)Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocyt
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or Syndrome