DiseaseID 11929
弗雷泽综合征
disease
NCI2016_NICHD_1602D:A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma.|NCI201
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Disease: 1Formula: 24Herb: 12Symptom: 1Target: 18Links: 61
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11929
- Core Entity Id
- 69379
- Source Entity Count
- 1
- Preferred Name
- Frasier Syndrome
- Name Cn
- 弗雷泽综合征
- Name Pinyin
- Fu Lei Ze Zong He Zheng
- Name En
- Frasier Syndrome
- 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; Endocrine System Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma.|NCI2016_02D:A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma.(NICHD)|MSH2017_2016_08_12:A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of 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
Frasier Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS012572
Me Sh
D052159
Omim
136680
Umls
C0950122
Sym Map
SMDE02555
Do Class
DOID:630
Dis Ge Net
C0950122
Umls Sty
T047
Me Sh Class
C12C13C16C19
Etcm Disease
Frasier Syndrome
Tcmbank Disease
26752
Itcmdb Generated
ITX-DISEASE-8C6E084891C0
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Frasier 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
Frasier 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, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma.|NCI2016_02D:A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma.(NICHD)|MSH2017_2016_08_12:A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
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; Endocrine System Diseases
Umls Semantic Type Name
Disease or Syndrome