DiseaseID 17611
横纹肌样瘤易感综合征
disease
NCI2016_02D:A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This
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Disease: 1Symptom: 5Target: 12Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17611
- Core Entity Id
- 75875
- Source Entity Count
- 1
- Preferred Name
- Rhabdoid Tumor Predisposition Syndrome
- Name Cn
- 横纹肌样瘤易感综合征
- Name Pinyin
- Heng Wen Ji Yang Liu Yi Gan Zong He Zheng
- Name En
- Rhabdoid Tumor Predisposition Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Rhabdoid Tumor Predisposition Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS020534
Umls
C2985524
Sym Map
SMDE12867
Dis Ge Net
C2985524
Umls Sty
T047
Me Sh Class
C04C16
Tcmbank Disease
7192
Itcmdb Generated
ITX-DISEASE-38D3344EEB44
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.
Me Sh Disease Class
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
Umls Semantic Type Name
Disease or Syndrome