DiseaseID 11775
遗传性乳头状肾细胞癌
disease
SNOMEDCT_US_2016_09_01:A familial predisposition for developing bilateral and multifocal type 1 papillary renal carcinoma. Transmitted as an autosomal dominant trait with reduced penetrance, the syndrome is associated wi
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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11775
- Core Entity Id
- 69202
- Source Entity Count
- 1
- Preferred Name
- Hereditary Papillary Renal Carcinoma
- Name Cn
- 遗传性乳头状肾细胞癌
- Name Pinyin
- Yi Chuan Xing Ru Tou Zhuang Shen Xi Bao Ai
- Name En
- Hereditary Papillary Renal Carcinoma
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Neoplastic Process
- Disgenet Type
- disease
- Mesh Class
- Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
- Do Class
- disease of anatomical entity; disease of cellular proliferation
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity; disease of cellular proliferation
- Disease Definition
- SNOMEDCT_US_2016_09_01:A familial predisposition for developing bilateral and multifocal type 1 papillary renal carcinoma. Transmitted as an autosomal dominant trait with reduced penetrance, the syndrome is associated with germline mutations in the MET proto-oncogene (7q31).|NCI2016_02D:A familiar carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hereditary Papillary Renal Carcinoma
Role
preferred
Name
Familial Renal Papillary Carcinoma
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS012352
Umls
C0879257
Sym Map
SMDE09433
Do Class
DOID:14566DOID:7
Dis Ge Net
C0879257
Umls Sty
T191
Me Sh Class
C04C12C13C16
Tcmbank Disease
27050
Itcmdb Generated
ITX-DISEASE-34F9E80F3804
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of anatomical entity; disease of cellular proliferation
Disease Type
disease
Do Disease Class
disease of anatomical entity; disease of cellular proliferation
Umls Disease Type
Neoplastic Process
Disease Definition
SNOMEDCT_US_2016_09_01:A familial predisposition for developing bilateral and multifocal type 1 papillary renal carcinoma. Transmitted as an autosomal dominant trait with reduced penetrance, the syndrome is associated with germline mutations in the MET proto-oncogene (7q31).|NCI2016_02D:A familiar carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
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
Umls Semantic Type Name
Neoplastic Process