DiseaseID 11771
Dent病
disease
NCI2016_NICHD_1602D:An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephro
Relationship Network
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Disease: 1Formula: 5Symptom: 3Target: 20Links: 32
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11771
- Core Entity Id
- 69196
- Source Entity Count
- 1
- Preferred Name
- Dent'S Disease
- Name Cn
- Dent病
- Name Pinyin
- Dent Bing
- Name En
- Dent'S Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_NICHD_1602D:An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.|NCI2016_02D:An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.(NICHD)|MSH2017_2016_08_12:X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dent'S Disease
Role
preferred
Name
Dent Disease 1
Role
preferred
Name
Dent Disease 2
Role
preferred
Name
Low Molecular Weight Proteinuria With Hypercalciuria And Nephrocalcinosis
Role
preferred
Name
Dent Disease
Role
alias
Name
Disease, Dent'S
Role
alias
Name
NEPHROLITHIASIS 2
Role
alias
Name
NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED
Role
alias
Name
NPHL2
Role
alias
Name
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Role
alias
Name
UROLITHIASIS, HYPERCALCIURIC, X-LINKED
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS012345HBDIS015807HBDIS016193HBDIS016450
Me Sh
D057973
Omim
300009300555308990
Umls
C0878681C1845167C1848336
Sym Map
SMDE00595SMDE01765SMDE07786
Do Class
DOID:630DOID:7
Dis Ge Net
C0878681C1839874C1845167C1848336
Umls Sty
T047
Me Sh Class
C12C13C16
Etcm Disease
Dent Disease 1Dent Disease 2
Tcmbank Disease
217773242856788490
Itcmdb Generated
ITX-DISEASE-0AE46C1DB716ITX-DISEASE-6F5B6F5902F1
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Dent Disease 1 Details pageDisease Dent Disease 2 Details page
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
Basic Information
Disease Name
Dent Disease 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Nephrological diseases
Disease Name
Dent Disease 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Nephrological diseases
Disease Definition
NCI2016_NICHD_1602D:An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.|NCI2016_02D:An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.(NICHD)|MSH2017_2016_08_12:X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or Syndrome