DiseaseID 25979
腭心面综合征
Velocardiofacial Syndrome
JABL99:Typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently prese
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25979
- Core Entity Id
- 118547
- Source Entity Count
- 1
- Preferred Name
- Velocardiofacial Syndrome
- Name Cn
- 腭心面综合征
- Name Pinyin
- E Xin Mian Zong He Zheng
- Name En
- Velocardiofacial 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:Typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently present in the Robin syndrome.|CSP2006:caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Velocardiofacial Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0220704
Icd10
Q93.81
Sym Map
SMDE01376
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
JABL99:Typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently present in the Robin syndrome.|CSP2006:caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood.