DiseaseID 9839
乳头肾综合征
disease
NCI2016_NICHD_1602D:A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract.|NCI2016_02D:A genetic disorder caused by
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Disease: 1Symptom: 6Target: 12Links: 18
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9839
- Core Entity Id
- 66965
- Source Entity Count
- 1
- Preferred Name
- Papillorenal Syndrome
- Name Cn
- 乳头肾综合征
- Name Pinyin
- Ru Tou Shen Zong He Zheng
- Name En
- Papillorenal Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Abnormality of the genitourinary system
- Do Class Name
- disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_NICHD_1602D:A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract.|NCI2016_02D:A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract.(NICHD)
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Papillorenal Syndrome
Role
preferred
Name
Renal Coloboma Syndrome
Role
preferred
Name
Renal Hypoplasia, Isolated (Disorder)
Role
preferred
Name
Bilateral Renal Hypoplasia
Role
preferred
Name
Congenital Hypoplasia of Kidney
Role
preferred
Name
Oligomeganephronic Hypoplasia of Kidney
Role
preferred
Name
CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES
Role
alias
Name
CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES
Role
alias
Name
Coloboma Of Optic Nerve With Renal Disease
Role
alias
Name
Hypoplastic Kidney
Role
alias
Name
Hypoplastic Kidneys
Role
alias
Name
OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES
Role
alias
Name
OPTIC NERVE COLOBOMA WITH RENAL DISEASE
Role
alias
Name
Oligomeganephronia
Role
alias
Name
PAPRS
Role
alias
Name
Papillo-renal Syndrome
Role
alias
Name
RENAL-COLOBOMA SYNDROME
Role
alias
Name
RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES
Role
alias
Name
Renal Hypoplasia
Role
alias
Name
Renal Hypoplasia, Bilateral
Role
alias
Name
Renal Hypoplasia, Isolated
Role
alias
Name
Renal Hypoplasia, Unspecified
Role
alias
Name
Small Kidneys
Role
alias
Name
Underdeveloped Kidneys
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000089HP:0012584
Herb
HBDIS005972HBDIS009358HBDIS009360HBDIS016894HBDIS019200
Omim
120330
Umls
C1852759C2608080
Icd10
Q60.4Q60.5
Sym Map
SMDE02032SMDE03417SMDE12791
Do Class
DOID:630DOID:7
Dis Ge Net
C0266295C0431692C0431694C1852759C2608080
Orphanet
1475
Umls Sty
T019T047
Hpo Class
HP:0000119
Me Sh Class
C11C12C13C16
Tcmbank Disease
115101803427892325226516
Itcmdb Generated
ITX-DISEASE-8ABC7C87A8A4
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
01
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the genitourinary system
Link Disease Id
2032.0
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
Hpo Disease Class
Abnormality of the genitourinary system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
NCI2016_NICHD_1602D:A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract.|NCI2016_02D:A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract.(NICHD)Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsMale 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 AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome