About: Noonan syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	monogenic disease RASopathy nodeID://b50952002 nodeID://b50952003 nodeID://b50952004
label	Noonan syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:3490
database_cross_reference	ICD10CM:Q87.19 GARD:10955 MESH:D009634 NCI:C34854 OMIM:PS163950 ORDO:648 SNOMEDCT_US_2021_09_01:88327006 UMLS_CUI:C0028326
has_exact_synonym	Turner's phenotype, karyotype normal (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
is subClassOf of	Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome 10 Noonan syndrome 13 Noonan syndrome 11 Noonan syndrome 12
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50952005

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