Mondo Disease Ontology

Last uploaded: May 9, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	Noonan syndrome
Synonyms	Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome Turner's phenotype, karyotype normal Noonan's syndrome Noonan syndrome
Definitions	Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
ID	http://purl.obolibrary.org/obo/MONDO_0018997
closeMatch	http://identifiers.org/meddra/10029748
database_cross_reference	GARD:10955 NCIT:C34854 UMLS:C0028326 icd11.foundation:1044395354 MedDRA:10029748 MESH:D009634 Orphanet:648 OMIMPS:163950 NORD:1513 SCTID:205824006 ICD9:759.89 DOID:3490
definition	Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
exactMatch	http://identifiers.org/mesh/D009634 http://purl.obolibrary.org/obo/NCIT_C34854 http://identifiers.org/snomedct/205824006 http://linkedlifedata.com/resource/umls/id/C0028326 http://purl.obolibrary.org/obo/DOID_3490 https://omim.org/phenotypicSeries/PS163950 http://purl.obolibrary.org/obo/Orphanet_648
has_exact_synonym	Turner's phenotype, karyotype normal Noonan's syndrome Noonan syndrome
has_related_synonym	Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6744
id	MONDO:0018997
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#clingen http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome
label	Noonan syndrome
notation	MONDO:0018997
prefLabel	Noonan syndrome
treeView	http://purl.obolibrary.org/obo/MONDO_0020297 http://purl.obolibrary.org/obo/MONDO_0019313 http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0015160
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0021060
subClassOf	http://purl.obolibrary.org/obo/MONDO_0020297 http://purl.obolibrary.org/obo/MONDO_0019313 http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0015160

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018997	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018997	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018997	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018997	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018997	KTAO	SAME_URI
http://www.phoc.org.cn/pmo/class/PMO_00039945	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/MESH/D009634	MESH	LOOM
rgo:09487	GAMUTS	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00302	SNMI	LOOM
http://purl.jp/bio/4/id/200906090244600730	IOBC	LOOM
http://purl.obolibrary.org/obo/DERMO_0000078	DERMO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10029748	MEDDRA	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.690	RH-MESH	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3490	NATPRO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018997	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018997	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018997	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018997	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0018997	KTAO	LOOM
http://purl.obolibrary.org/obo/NCIT_C34854	BERO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.784	RH-MESH	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14890	DERMLEX	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.787	RH-MESH	LOOM
http://www.co-ode.org/ontologies/galen#NoonanSyndrome	GALEN	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0028326	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.690	RH-MESH	LOOM
http://purl.obolibrary.org/obo/DOID_3490	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_3490	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_3490	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_3490	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_3490	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_3490	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_3490	FNS-H	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#8767	OCHV	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34854	NCIT	LOOM
http://nanbyodata.jp/ontology/NANDO_2200413	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_648	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009634	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_206	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.787	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0010654	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.690	RH-MESH	LOOM