DiseaseID 25789
X连锁隐性遗传鱼鳞病
Recessive X-Linked Ichthyosis
Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
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Disease: 1Symptom: 2Target: 10Links: 12
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25789
- Core Entity Id
- 118357
- Source Entity Count
- 1
- Preferred Name
- Recessive X-Linked Ichthyosis
- Name Cn
- X连锁隐性遗传鱼鳞病
- Name Pinyin
- X Lian Suo Yin Xing Yi Chuan Yu Lin Bing
- Name En
- Recessive X-Linked 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
- Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Recessive X-Linked Ichthyosis
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Omim
300001
Umls
C0079588C2717836C2720163
Med Dra
10048063
Sym Map
SMDE00355
Orphanet
461
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.