DiseaseID 25873
先天性厚甲症1型
Pachyonychia Congenita 1
MSH2017_2016_08_12:A subtype of pachyonychia congenita that is associated with mutations in the gene for KERATIN-16 and the gene for KERATIN-6A.
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
- 25873
- Core Entity Id
- 118441
- Source Entity Count
- 1
- Preferred Name
- Pachyonychia Congenita 1
- Name Cn
- 先天性厚甲症1型
- Name Pinyin
- Xian Tian Xing Hou Jia Zheng 1 Xing
- Name En
- Pachyonychia Congenita 1
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- MSH2017_2016_08_12:A subtype of pachyonychia congenita that is associated with mutations in the gene for KERATIN-16 and the gene for KERATIN-6A.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pachyonychia Congenita 1
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1706595
Sym Map
SMDE00750
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
MSH2017_2016_08_12:A subtype of pachyonychia congenita that is associated with mutations in the gene for KERATIN-16 and the gene for KERATIN-6A.