DiseaseID 27550
短头-耳聋-白内障-小口-智力障碍综合征
Brachycephaly-Deafness-Cataract-Microstomia-Mental Retardation Syndrome
JABL99:A dysmorphic syndrome with variable expression characterized mainly by body asymmetry, developmental delay, brachycephaly, cataracts, and deafness.
Relationship Network
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Disease: 1Symptom: 2Target: 3Links: 5
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 27550
- Core Entity Id
- 120118
- Source Entity Count
- 1
- Preferred Name
- Brachycephaly-Deafness-Cataract-Microstomia-Mental Retardation Syndrome
- Name Cn
- 短头-耳聋-白内障-小口-智力障碍综合征
- Name Pinyin
- Duan Tou - Er Long - Bai Nei Zhang - Xiao Kou - Zhi Li Zhang Ai Zong He Zheng
- Name En
- Brachycephaly-Deafness-Cataract-Microstomia-Mental Retardation 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 dysmorphic syndrome with variable expression characterized mainly by body asymmetry, developmental delay, brachycephaly, cataracts, and deafness.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Brachycephaly-Deafness-Cataract-Microstomia-Mental Retardation Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Omim
601353
Umls
C0795941
Sym Map
SMDE06562
Itcmdb Generated
ITX-DISEASE-5BAFFF7337F9
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
JABL99:A dysmorphic syndrome with variable expression characterized mainly by body asymmetry, developmental delay, brachycephaly, cataracts, and deafness.