DiseaseID 26127
辛泽尔-吉迪恩面中部后缩综合征
Schinzel-Giedion Midface Retraction Syndrome
JABL99:Developmental delay, midface retraction, hirsutism, multiple skeletal anomalies, seizures, and cardiac and renal malformations.
Relationship Network
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Disease: 1Symptom: 5Target: 2Links: 7
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26127
- Core Entity Id
- 118695
- Source Entity Count
- 1
- Preferred Name
- Schinzel-Giedion Midface Retraction Syndrome
- Name Cn
- 辛泽尔-吉迪恩面中部后缩综合征
- Name Pinyin
- Xin Ze Er - Ji Di En Mian Zhong Bu Hou Suo Zong He Zheng
- Name En
- Schinzel-Giedion Midface Retraction 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:Developmental delay, midface retraction, hirsutism, multiple skeletal anomalies, seizures, and cardiac and renal malformations.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Schinzel-Giedion Midface Retraction Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0265227
Sym Map
SMDE02041
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
JABL99:Developmental delay, midface retraction, hirsutism, multiple skeletal anomalies, seizures, and cardiac and renal malformations.