DiseaseID 28242
口-指-面综合征III型
Digito-Orofacial Syndrome Iii
JABL99:A syndrome of eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly, pectus excavatum, short sternum, kyphosis, mental retardation, and ceaseless ("see-saw") w
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Disease: 1Symptom: 1Target: 4Links: 5
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 28242
- Core Entity Id
- 120810
- Source Entity Count
- 1
- Preferred Name
- Digito-Orofacial Syndrome Iii
- Name Cn
- 口-指-面综合征III型
- Name Pinyin
- Kou - Zhi - Mian Zong He Zheng Iii Xing
- Name En
- Digito-Orofacial Syndrome Iii
- 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 eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly, pectus excavatum, short sternum, kyphosis, mental retardation, and ceaseless ("see-saw") winking of the eyelids occurring in one of the two sisters in the original report.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Digito-Orofacial Syndrome Iii
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0406726
Sym Map
SMDE07918
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
JABL99:A syndrome of eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly, pectus excavatum, short sternum, kyphosis, mental retardation, and ceaseless ("see-saw") winking of the eyelids occurring in one of the two sisters in the original report.