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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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Id | http://purl.obolibrary.org/obo/OMIM_163950
http://purl.obolibrary.org/obo/OMIM_163950
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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.
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | (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. |
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label |
Noonan syndrome 1
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prefLabel |
Noonan syndrome 1
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notation |
OMIM:163950
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id |
OMIM:163950
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has_obo_namespace |
cell_cycle_ontology
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subClassOf | |
type | |
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