DiseaseID 26478
Opitz-Kaveggia综合征
Opitz-Kaveggia Syndrome
JABL99:A multiple congenital anomaly/mental retardation syndrome characterized by a short stature, large head, hypotonia with or without joint contractures, seizures, imperforate anus, agenesis of the corpus callosum, an
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Disease: 1Symptom: 6Target: 12Links: 18
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26478
- Core Entity Id
- 119046
- Source Entity Count
- 1
- Preferred Name
- Opitz-Kaveggia Syndrome
- Name Cn
- Opitz-Kaveggia综合征
- Name Pinyin
- Opitz-kaveggia Zong He Zheng
- Name En
- Opitz-Kaveggia 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 multiple congenital anomaly/mental retardation syndrome characterized by a short stature, large head, hypotonia with or without joint contractures, seizures, imperforate anus, agenesis of the corpus callosum, and characteristic facies. "FG" stands for the surnames of patients in whom the syndrome was first reported.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Opitz-Kaveggia Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0220769
Sym Map
SMDE03669
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
JABL99:A multiple congenital anomaly/mental retardation syndrome characterized by a short stature, large head, hypotonia with or without joint contractures, seizures, imperforate anus, agenesis of the corpus callosum, and characteristic facies. "FG" stands for the surnames of patients in whom the syndrome was first reported.