DiseaseID 25901
髓鞘形成不良-先天性白内障综合征
Hypomyelination-Congenital Cataract Syndrome
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life a
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Disease: 1Symptom: 2Target: 4Links: 6
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25901
- Core Entity Id
- 118469
- Source Entity Count
- 1
- Preferred Name
- Hypomyelination-Congenital Cataract Syndrome
- Name Cn
- 髓鞘形成不良-先天性白内障综合征
- Name Pinyin
- Sui Qiao Xing Cheng Bu Liang - Xian Tian Xing Bai Nei Zhang Zong He Zheng
- Name En
- Hypomyelination-Congenital Cataract 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
- Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life a
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hypomyelination-Congenital Cataract Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1864663
Icd10
G37.8
Sym Map
SMDE00881
Orphanet
85163
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life a