DiseaseID 26631

III型成骨不全症

Osteogenesis Imperfecta, Type Iii

NCI2016_02D:A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.

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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields

Scalar fields from the final disease record.

Disease Id
26631
Core Entity Id
119199
Source Entity Count
1
Preferred Name
Osteogenesis Imperfecta, Type Iii
Name Cn
III型成骨不全症
Name Pinyin
Iii Xing Cheng Gu Bu Quan Zheng
Name En
Osteogenesis Imperfecta, Type Iii
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
NCI2016_02D:A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Osteogenesis Imperfecta, Type Iii
Role
preferred
Source
SymMap_v2
Preferred
Yes

Cross References

Trusted external identifiers retained for this final record.

Umls
C0268362
Sym Map
SMDE04427

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Disease Definition
NCI2016_02D:A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.