Cell Cycle Ontology

Last uploaded: June 26, 2014
Id http://purl.obolibrary.org/obo/OMIM_163950
http://purl.obolibrary.org/obo/OMIM_163950
Preferred Name

Noonan syndrome 1

Definitions
(NS1): A syndrome characterized by facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears. Other features can include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies, deafness, motor delay and variable intellectual deficits. Some patients with Noonan syndrome type 1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villomoduolar synovitis (PVNS) when occurring in the jaw or joints.
Type http://www.w3.org/2002/07/owl#Class
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