DiseaseID 15815
结节性硬化症2型
disease
NCI2016_02D:Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).
Relationship Network
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15815
- Core Entity Id
- 73801
- Source Entity Count
- 1
- Preferred Name
- Tuberous Sclerosis 2 (Disorder)
- Name Cn
- 结节性硬化症2型
- Name Pinyin
- Jie Jie Xing Ying Hua Zheng 2 Xing
- Name En
- Tuberous Sclerosis 2 (Disorder)
- 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; Nervous System Diseases; Male Urogenital DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
- 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; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Tuberous Sclerosis 2 (Disorder)
Role
preferred
Name
Tsc2 Angiomyolipomas, Renal, Modifier Of
Role
preferred
Name
Tuberous Sclerosis 2
Role
preferred
Name
Tuberous Sclerosis Complex
Role
preferred
Name
TSC2
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017792HBDIS019865
Omim
613254
Umls
C0041341C1860707C2750460
Med Dra
10045138
Sym Map
SMDE02083SMDE03656SMDE14025SMDE14046
Do Class
DOID:630
Dis Ge Net
C1860707C2750460
Orphanet
805
Umls Sty
T047
Me Sh Class
C04C10C12C13C16
Tcmbank Disease
220516939
Itcmdb Generated
ITX-DISEASE-4D0413586BE0
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
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:Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital DiseasesNervous System 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; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome