DiseaseID 25860
丑角样鱼鳞病
Harlequin Ichthyosis
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales
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Disease: 1Symptom: 2Target: 1Links: 3
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25860
- Core Entity Id
- 118428
- Source Entity Count
- 1
- Preferred Name
- Harlequin Ichthyosis
- Name Cn
- 丑角样鱼鳞病
- Name Pinyin
- Chou Jue Yang Yu Lin Bing
- Name En
- Harlequin Ichthyosis
- 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
- Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Harlequin Ichthyosis
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0239849C0598226
Med Dra
10019163
Sym Map
SMDE00689
Orphanet
457
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales