DiseaseID 5367
皮脂腺腺瘤
disease
NCI2016_02D:Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).
Relationship Network
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Disease: 1Symptom: 4Target: 12Links: 16
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5367
- Core Entity Id
- 61854
- Source Entity Count
- 1
- Preferred Name
- Sebaceous Adenoma
- Name Cn
- 皮脂腺腺瘤
- Name Pinyin
- Pi Zhi Xian Xian Liu
- Name En
- Sebaceous Adenoma
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- NeoplasmsNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
- Do Class
- disease of anatomical entity; disease of cellular proliferationgenetic disease
- Hpo Class
- Abnormality of head or neck; Neoplasm; Abnormality of the integument
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesNeoplasms
- Hpo Class Name
- Abnormality of the integument; Neoplasm; Abnormality of head or neck
- Do Class Name
- disease of anatomical entity; disease of cellular proliferationgenetic disease
- Disease Definition
- NCI2016_02D:Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Sebaceous Adenoma
Role
preferred
Name
Tuberous Sclerosis 1 (Disorder)
Role
preferred
Name
Fibrous Skin Tumor of Tuberous Sclerosis
Role
preferred
Name
Tuberous Sclerosis
Role
preferred
Name
Tuberous Sclerosis 1
Role
preferred
Name
Adenoma Sebaceum
Role
alias
Name
Facial Angiofibromas
Role
alias
Name
Sebaceous Adenomas
Role
alias
Name
Ts
Role
alias
Name
Tsc1
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0009720
Herb
HBDIS003027HBDIS005812HBDIS014045HBDIS017040
Me Sh
D014402
Omim
191100
Umls
C1854465
Icd10
Q85.1
Sym Map
SMDE04561SMDE14045
Do Class
DOID:14566DOID:630DOID:7
Dis Ge Net
C0041341C0265319C1368816C1854465
Umls Sty
T047T191
Hpo Class
HP:0000152HP:0001574HP:0002664
Me Sh Class
C04C10C16
Tcmbank Disease
1044518413276066511
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Do Class Name
disease of anatomical entity; disease of cellular proliferationgenetic disease
Disease Type
disease
Hpo Class Name
Abnormality of the integument; Neoplasm; Abnormality of head or neck
Do Disease Class
disease of anatomical entity; disease of cellular proliferationgenetic disease
Hpo Disease Class
Abnormality of head or neck; Neoplasm; Abnormality of the integument
Umls Disease Type
Disease or SyndromeNeoplastic Process
Disease Definition
NCI2016_02D:Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).NCI2016_NCI-GLOSS_1602D:A genetic disorder in which benign (not cancer) tumors form in the kidneys, brain, eyes, heart, lungs, and skin. This disease can cause seizures, mental disabilities, and different types of skin lesions.|NCI2016_02D:Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.|MSH2017_2016_08_12:Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.|MEDLINEPLUS_20151021:<p>Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include</p> <ul> <li>Skin problems, such as light patches and thickened skin</li> <li>Seizures</li> <li>Behavior problems</li> <li>Intellectual disabilities</li> <li>Kidney problems</li> </ul> <p>Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening.</p> <p>Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|JABL99:A triad of epilepsy, mental retardation, and angiofibromas of numerous organs with intracranial hamartomatous lesions involving subependymal nodules and cerebral cortical tubers (hence the name "tuberous sclerosis."|CSP2006:autosomal dominant disease characterized principally by the presences of hamartomas of the brain, retina, and visera; clinical manifestations include mental retardation, seizures, and adenoma sebaceum of the face.
Me Sh Disease Class
NeoplasmsNervous 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; Nervous System DiseasesNeoplasms
Umls Semantic Type Name
Disease or SyndromeNeoplastic Process