DiseaseID 25859
新生儿鱼鳞病-硬化性胆管炎综合征
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
Relationship Network
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Disease: 1Symptom: 4Target: 2Links: 6
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25859
- Core Entity Id
- 118427
- Source Entity Count
- 1
- Preferred Name
- Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
- Name Cn
- 新生儿鱼鳞病-硬化性胆管炎综合征
- Name Pinyin
- Xin Sheng Er Yu Lin Bing - Ying Hua Xing Dan Guan Yan Zong He Zheng
- Name En
- Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
- 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
- Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1843355
Sym Map
SMDE00685
Orphanet
59303
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.