DiseaseID 25962
Meesmann角膜营养不良
Corneal Dystrophy, Meesmann
NCI2016_02D:An autosomal dominant inherited corneal disorder caused by mutations in the KRT3 and KRT12 genes. It is characterized by the formation of multiple tiny cysts in the epithelial layer of the cornea. The cysts m
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Disease: 1Target: 3Links: 3
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25962
- Core Entity Id
- 118530
- Source Entity Count
- 1
- Preferred Name
- Corneal Dystrophy, Meesmann
- Name Cn
- Meesmann角膜营养不良
- Name Pinyin
- Meesmann Jiao Mo Ying Yang Bu Liang
- Name En
- Corneal Dystrophy, Meesmann
- 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:An autosomal dominant inherited corneal disorder caused by mutations in the KRT3 and KRT12 genes. It is characterized by the formation of multiple tiny cysts in the epithelial layer of the cornea. The cysts may rupture, causing pain, redness and light sensitivity. Vision usually is not affected.|MSH2017_2016_08_12:An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Corneal Dystrophy, Meesmann
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0339277
Icd10
H18.52
Sym Map
SMDE01295
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
NCI2016_02D:An autosomal dominant inherited corneal disorder caused by mutations in the KRT3 and KRT12 genes. It is characterized by the formation of multiple tiny cysts in the epithelial layer of the cornea. The cysts may rupture, causing pain, redness and light sensitivity. Vision usually is not affected.|MSH2017_2016_08_12:An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.