Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Noonan syndrome
Synonyms	Turner's phenotype, karyotype normal
Definitions	A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_3490
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	UMLS_CUI:C0028326 ICD10CM:Q87.19 NCI:C34854 GARD:10955 MESH:D009634 OMIM:PS163950 SNOMEDCT_US_2022_09_01:88327006 ORDO:648
definition	A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
disease has basis in	http://purl.obolibrary.org/obo/SO_0000704
has exact synonym	Turner's phenotype, karyotype normal
has symptom	http://purl.obolibrary.org/obo/SYMP_0000007 http://purl.obolibrary.org/obo/SYMP_0000568
has_obo_namespace	disease_ontology
id	DOID:3490
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	Noonan syndrome
notation	DOID:3490
prefLabel	Noonan syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_0080690 http://purl.obolibrary.org/obo/DOID_0050177

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34854	National Cancer Institute Thesaurus	LOOM
	http://purl.bioontology.org/ontology/MESH/D009634	Medical Subject Headings	LOOM