DiseaseID 11928

德尼-德拉什综合征

disease

NCI2016_NICHD_1602D:A condition comprising congenital nephrotic syndrome, developmental sex disorder and Wilms tumor; associated with mutation(s) in the WT1 gene.|NCI2016_NCI-GLOSS_1602D:A rare disorder that causes kidne

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Disease: 1Formula: 19Herb: 12Symptom: 1Target: 17Links: 56
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Record Fields

Scalar fields from the final disease record.

Disease Id
11928
Core Entity Id
69378
Source Entity Count
1
Preferred Name
Denys-Drash Syndrome
Name Cn
德尼-德拉什综合征
Name Pinyin
De Ni - De La Shen Zong He Zheng
Name En
Denys-Drash Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
Do Class
genetic disease
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Hpo Class Name
Do Class Name
genetic disease
Disease Definition
NCI2016_NICHD_1602D:A condition comprising congenital nephrotic syndrome, developmental sex disorder and Wilms tumor; associated with mutation(s) in the WT1 gene.|NCI2016_NCI-GLOSS_1602D:A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer.|NCI2016_02D:A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders.|MSH2017_2016_08_12:A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Denys-Drash Syndrome
Role
preferred
Name
DDS
Role
alias
Name
DRASH SYNDROME
Role
alias
Name
NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES
Role
alias
Name
WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS012571
Me Sh
D030321
Omim
194080
Umls
C0950121
Sym Map
SMDE02517
Do Class
DOID:630
Dis Ge Net
C0950121
Umls Sty
T047
Me Sh Class
C04C12C13C16C19
Etcm Disease
Denys-Drash Syndrome
Tcmbank Disease
11890
Itcmdb Generated
ITX-DISEASE-5B1F2E9A5CE7

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Denys-Drash Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Denys-Drash Syndrome
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Nephrological diseases;Reproductive diseases
Disease Definition
NCI2016_NICHD_1602D:A condition comprising congenital nephrotic syndrome, developmental sex disorder and Wilms tumor; associated with mutation(s) in the WT1 gene.|NCI2016_NCI-GLOSS_1602D:A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer.|NCI2016_02D:A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders.|MSH2017_2016_08_12:A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Umls Semantic Type Name
Disease or Syndrome