DiseaseID 26383
骨质疏松-假性神经胶质瘤综合征
Osteoporosis-Pseudoglioma Syndrome
JABL99:A rare syndrome characterized by generalized osteoporosis, pseudoglioma, and blindness usually due to retinal detachment. Mental retardation and ligamental laxity are variable manifestations.
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Disease: 1Symptom: 2Target: 6Links: 8
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26383
- Core Entity Id
- 118951
- Source Entity Count
- 1
- Preferred Name
- Osteoporosis-Pseudoglioma Syndrome
- Name Cn
- 骨质疏松-假性神经胶质瘤综合征
- Name Pinyin
- Gu Zhi Shu Song - Jia Xing Shen Jing Jiao Zhi Liu Zong He Zheng
- Name En
- Osteoporosis-Pseudoglioma 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
- JABL99:A rare syndrome characterized by generalized osteoporosis, pseudoglioma, and blindness usually due to retinal detachment. Mental retardation and ligamental laxity are variable manifestations.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Osteoporosis-Pseudoglioma Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0432252
Sym Map
SMDE03208
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
JABL99:A rare syndrome characterized by generalized osteoporosis, pseudoglioma, and blindness usually due to retinal detachment. Mental retardation and ligamental laxity are variable manifestations.