Glaucoma 3, primary congenital, e

Preferred Label : Glaucoma 3, primary congenital, e;

Symbol : GLC3E;

CISMeF acronym : GLC3E;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the endothelial TEK tyrosine kinase gene (TEK, 600221.0005);

Prefixed ID : #617272;

Details

Origin ID

617272;

UMLS CUI

C4310639;

Automatic exact mappings (from CISMeF team)
- TEK wt Allele [NCIt concept]
Genes related to phenotype
- Tek tyrosine kinase, endothelial [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Edema [HPO term]
- Glaucoma [HPO term]
- Megalocornea [HPO term]
- Ocular hypertension [HPO term]
ORDO concept(s)
- Congenital glaucoma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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