DiseaseID 25773
巴雷特-温特综合征1型
Baraitser-Winter Syndrome 1
JABL99:Iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation are the main elements of this syndrome.
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Disease: 1Symptom: 4Target: 12Links: 16
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25773
- Core Entity Id
- 118341
- Source Entity Count
- 1
- Preferred Name
- Baraitser-Winter Syndrome 1
- Name Cn
- 巴雷特-温特综合征1型
- Name Pinyin
- Ba Lei Te - Wen Te Zong He Zheng 1 Xing
- Name En
- Baraitser-Winter Syndrome 1
- 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:Iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation are the main elements of this syndrome.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Baraitser-Winter Syndrome 1
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1855722
Sym Map
SMDE00283
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
JABL99:Iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation are the main elements of this syndrome.