DiseaseID 936
肾单位肾痨1型
disease
NCI2016_02D:Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The p
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Disease: 1Symptom: 4Target: 9Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 936
- Core Entity Id
- 1058
- Source Entity Count
- 1
- Preferred Name
- Nephronophthisis 1
- Name Cn
- 肾单位肾痨1型
- Name Pinyin
- Shen Dan Wei Shen Lao 1 Xing
- Name En
- Nephronophthisis 1
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Nephronophthisis 1
Role
preferred
Name
NEPHRONOPHTHISIS, FAMILIAL JUVENILE
Role
alias
Name
NPH1
Role
alias
Name
NPHP1
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS027367
Omim
256100
Umls
C1855681
Sym Map
SMDE03196
Do Class
DOID:630
Dis Ge Net
C4551979
Umls Sty
T047
Me Sh Class
C12C13
Tcmbank Disease
7029
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
Me Sh Disease Class
Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or Syndrome