OntologyTerm
Paganini-Miozzo syndrome

released
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   December 12th, 2019 at 12:21am

Details

definition 
A X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism. (EFO)
namespace 
http://www.ebi.ac.uk/efo
parents 
  1. X-linked recessive disease
  2. syndromic disease
preferred_name 
Paganini-Miozzo syndrome
source_ontologies 
  1. Experimental Factor Ontology
term_id 
EFO:0010261
term_name 
Paganini-Miozzo syndrome
term_url 
http://www.ebi.ac.uk/efo/EFO_0010261