Cataract 30, multiple types

Preferred Label : Cataract 30, multiple types;

Symbol : CTRCT30;

CISMeF acronym : CTRCT30;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the vimentin gene (VIM, 193060.0001);

Prefixed ID : #116300;

Details

Origin ID

116300;

UMLS CUI

C3805411;

Currated CISMeF NLP mapping
- Diffuse nuclear cataract [HPO term]
- cataract 30 [DO Concept]
- cataract, nuclear diffuse nonprogressive [MeSH concept]
- cataract, nuclear diffuse nonprogressive [MeSH Supplementary Concept]
DO Cross reference
- cataract 30 [DO Concept]
Genes related to phenotype
- Vimentin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Diffuse nuclear cataract [HPO term]
- Posterior polar cataract [HPO term]
- Pulverulent cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset partial cataract [ORDO Disease]
- Pulverulent cataract [ORDO Disease]
See also inter- (CISMeF)
- VIM wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 30 [DO Concept]

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