Keratoendotheliitis fugax hereditaria

Preferred Label : Keratoendotheliitis fugax hereditaria;

Symbol : KEFH;

CISMeF acronym : KEFH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratitis fugax hereditaria;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NLR family, pyrin domain-containing 3 gene (NLRP3, 606416.0012);

Prefixed ID : #148200;

Details

Origin ID

148200;

UMLS CUI

C1835697;

Currated CISMeF NLP mapping
- keratitis fugax hereditaria [MeSH concept]
- keratitis fugax hereditaria [MeSH Supplementary Concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blurred vision [HPO term]
- Conjunctival hyperemia [HPO term]
- Corneal opacity [HPO term]
- Edema [HPO term]
- Epiphora [HPO term]
- Juvenile onset [HPO term]
- Keratitis [HPO term]
- Opacification of the corneal stroma [HPO term]
- Photophobia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- keratitis fugax hereditaria [MeSH Supplementary Concept]
- keratitis fugax hereditaria [MeSH concept]

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