DiseaseID 26193
口-面-指综合征IV型
Orofaciodigital Syndrome Iv
JABL99:A syndrome of orofacial, digital, and tibial abnormalities, consisting of unusual facies, hyperplastic frenula, lingual hamartomata, lobulated tongue, broad nasal root polydactyly, severe talipes, and mesomelic li
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Disease: 1Symptom: 1Target: 1Links: 2
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26193
- Core Entity Id
- 118761
- Source Entity Count
- 1
- Preferred Name
- Orofaciodigital Syndrome Iv
- Name Cn
- 口-面-指综合征IV型
- Name Pinyin
- Kou - Mian - Zhi Zong He Zheng Iv Xing
- Name En
- Orofaciodigital Syndrome Iv
- 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 syndrome of orofacial, digital, and tibial abnormalities, consisting of unusual facies, hyperplastic frenula, lingual hamartomata, lobulated tongue, broad nasal root polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Orofaciodigital Syndrome Iv
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0406727
Sym Map
SMDE02345
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
JABL99:A syndrome of orofacial, digital, and tibial abnormalities, consisting of unusual facies, hyperplastic frenula, lingual hamartomata, lobulated tongue, broad nasal root polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia.