DiseaseID 26213
威特科普综合征
Witkop Syndrome
NCI2016_02D:A rare genetic disorder with an autosomal dominant pattern of inheritance. It is associated with mutations in the MSX-1 gene on chromosome 4 which alter ectodermal morphogenesis. Characteristic clinical signs
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Disease: 1Target: 1Links: 1
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26213
- Core Entity Id
- 118781
- Source Entity Count
- 1
- Preferred Name
- Witkop Syndrome
- Name Cn
- 威特科普综合征
- Name Pinyin
- Wei Te Ke Pu Zong He Zheng
- Name En
- Witkop 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
- NCI2016_02D:A rare genetic disorder with an autosomal dominant pattern of inheritance. It is associated with mutations in the MSX-1 gene on chromosome 4 which alter ectodermal morphogenesis. Characteristic clinical signs include absent or poorly-formed dentition and brittle, spoon-shaped finger and toenails. Clinical course features an increased incidence of dental caries but is essentially benign.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Witkop Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0406735
Sym Map
SMDE02447
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
NCI2016_02D:A rare genetic disorder with an autosomal dominant pattern of inheritance. It is associated with mutations in the MSX-1 gene on chromosome 4 which alter ectodermal morphogenesis. Characteristic clinical signs include absent or poorly-formed dentition and brittle, spoon-shaped finger and toenails. Clinical course features an increased incidence of dental caries but is essentially benign.