Corneal dystrophy, meesmann, 1

Preferred Label : Corneal dystrophy, meesmann, 1;

Symbol : MECD1;

CISMeF acronym : MECD; MECD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Meesmann corneal dystrophy; Corneal dystrophy, meesmann epithelial; Corneal dystrophy, juvenile epithelial, of meesmann; MECD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 12, type I gene (KRT12, 601687.0001);

Prefixed ID : #122100;

Details

Origin ID

122100;

UMLS CUI

C5231499;

Currated CISMeF NLP mapping
- Meesmann corneal dystrophy 1 [DO Concept]
DO Cross reference
- Meesmann corneal dystrophy 1 [DO Concept]
Genes related to phenotype
- Keratin 12, type I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Epiphora [HPO term]
- Nonprogressive [HPO term]
- Nonprogressive corneal dystrophy [HPO term]
- Photophobia [HPO term]
- Punctate opacification of the cornea [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Meesmann corneal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- KRT12 wt Allele [NCIt concept]
- keratin 12 [ORDO Gene]
- keratin 12 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile epithelial corneal dystrophy [MedDRA LLT]
- Juvenile epithelial corneal dystrophy [HPO term]
- Juvenile epithelial corneal dystrophy [ICD-9 code]
- Juvenile epithelial corneal dystrophy (disorder) [SNOMED CT concept]
- Meesmann Corneal Dystrophy [NCIt concept]
- Meesmann corneal dystrophy [ORDO Disease]
- Meesmann corneal dystrophy [DO Concept]
- Meesmann corneal dystrophy [PASCAL descriptor]
- corneal dystrophy, juvenile epithelial of meesmann [MeSH Descriptor]
- corneal dystrophy, juvenile epithelial of meesmann [MeSH concept]
- juvenile corneal epithelial dystrophy [Disease (Nov.)]
- juvenile epithelial corneal dystrophy [SNOMED Notion]
Validated automatic mappings to NTBT
- Juvenile epithelial corneal dystrophy [MedDRA LLT]
- Juvenile epithelial corneal dystrophy [HPO term]
- Juvenile epithelial corneal dystrophy [ICD-9 code]
- Juvenile epithelial corneal dystrophy (disorder) [SNOMED CT concept]
- Meesman's dystrophy [MedDRA LLT]
- Meesmann Corneal Dystrophy [NCIt concept]
- Meesmann corneal dystrophy [PASCAL descriptor]
- Meesmann corneal dystrophy [DO Concept]
- Meesmann corneal dystrophy [ORDO Disease]
- Meesmann juvenile epithelial corneal dystrophy [ICD-11 More detail]
- corneal dystrophy, juvenile epithelial of meesmann [MeSH Descriptor]
- corneal dystrophy, juvenile epithelial of meesmann [MeSH concept]
- juvenile corneal epithelial dystrophy [Disease (Nov.)]
- juvenile epithelial corneal dystrophy [SNOMED Notion]

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