DiseaseID 17355
显性遗传性感觉神经病
disease
NCI2016_02D:A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.
Relationship Network
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Disease: 1Symptom: 12Target: 3Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17355
- Core Entity Id
- 75575
- Source Entity Count
- 1
- Preferred Name
- Dominantly Inherited Sensory Neuropathy
- Name Cn
- 显性遗传性感觉神经病
- Name Pinyin
- Xian Xing Yi Chuan Xing Gan Jue Shen Jing Bing
- Name En
- Dominantly Inherited Sensory Neuropathy
- 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; Nervous System Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dominantly Inherited Sensory Neuropathy
Role
preferred
Name
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Role
preferred
Name
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Role
preferred
Name
Hereditary Sensory And Autonomic Neuropathy Type Ie
Role
preferred
Name
HSAN VI
Role
alias
Name
HSAN VII
Role
alias
Name
HSAN6
Role
alias
Name
HSAN7
Role
alias
Name
Hereditary Sensory And Autonomic Neuropathy Type 6
Role
alias
Name
Hereditary Sensory And Autonomic Neuropathy Type 7
Role
alias
Name
Hereditary Sensory Neuropathy Type 1E
Role
alias
Name
INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTION AND HYPERHIDROSIS
Role
alias
Name
Neuropathy, Hereditary Sensory, Type Ie
Role
alias
Name
Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS020078HBDIS021236HBDIS021615HBDIS022386
Omim
614116614653615548
Umls
C3539003C3809882
Sym Map
SMDE02690SMDE04149
Do Class
DOID:630DOID:7
Dis Ge Net
C2875301C3279885C3539003C3809882
Umls Sty
T047
Me Sh Class
C10C16
Tcmbank Disease
150717630256518943
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome