DiseaseID 25802
扭曲性侏儒症
Diastrophic Dwarfism
Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principal
Relationship Network
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Disease: 1Symptom: 3Target: 9Links: 12
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25802
- Core Entity Id
- 118370
- Source Entity Count
- 1
- Preferred Name
- Diastrophic Dwarfism
- Name Cn
- 扭曲性侏儒症
- Name Pinyin
- Niu Qu Xing Zhu Ru Zheng
- Name En
- Diastrophic Dwarfism
- 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
- Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principal
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Diastrophic Dwarfism
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0220726
Icd10
Q77.5
Sym Map
SMDE00410
Orphanet
628
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principal