DiseaseID 2174
少汗性外胚层发育不良3型
disease
MSH2017_2016_08_12:An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.
Relationship Network
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Disease: 1Symptom: 6Target: 2Links: 8
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2174
- Core Entity Id
- 2445
- Source Entity Count
- 1
- Preferred Name
- Ectodermal Dysplasia 3, Anhidrotic
- Name Cn
- 少汗性外胚层发育不良3型
- Name Pinyin
- Shao Han Xing Wai Pei Ceng Fa Yu Bu Liang 3 Xing
- Name En
- Ectodermal Dysplasia 3, Anhidrotic
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- MSH2017_2016_08_12:An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ectodermal Dysplasia 3, Anhidrotic
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS028749
Me Sh
D053359
Umls
C1720965
Sym Map
SMDE08144
Dis Ge Net
C1720965
Umls Sty
T019
Me Sh Class
C16C17
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Umls Disease Type
Congenital Abnormality
Disease Definition
MSH2017_2016_08_12:An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.
Me Sh Disease Class
Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease