DiseaseID 26036
MEDNIK综合征
Mednik Syndrome
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar an
Relationship Network
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Disease: 1Symptom: 4Target: 2Links: 6
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26036
- Core Entity Id
- 118604
- Source Entity Count
- 1
- Preferred Name
- Mednik Syndrome
- Name Cn
- MEDNIK综合征
- Name Pinyin
- Mednik Zong He Zheng
- Name En
- Mednik 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
- MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar an
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mednik Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1836330
Sym Map
SMDE01667
Orphanet
171851
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar an