Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

Noonan syndrome
Synonyms

Noonan-Ehmke syndrome

pseudo-Ullrich-Turner syndrome

Ullrich-Noonan syndrome

Noonan syndrome

Turner's phenotype, karyotype normal

Noonan's 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
curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0018997
database_cross_reference

ICD9:759.89

icd11.foundation:1044395354

MedDRA:10029748

NCIT:C34854

OMIMPS:163950

Orphanet:648

NANDO:1200680

MEDGEN:18073

MESH:D009634

UMLS:C0028326

NANDO:2200413

SCTID:205824006

DOID:3490

GARD:10955

NORD:1513
definition

Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
has_exact_synonym

Noonan syndrome

Turner's phenotype, karyotype normal

Noonan's syndrome
has_related_synonym

Noonan-Ehmke syndrome

pseudo-Ullrich-Turner syndrome

Ullrich-Noonan syndrome
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6744
id

MONDO:0018997
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#clingen

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label

Noonan syndrome
notation

MONDO:0018997
preferred label

Noonan syndrome
prefLabel

Noonan syndrome
skos_closeMatch

http://identifiers.org/meddra/10029748
skos_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://identifiers.org/medgen/18073

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1044395354

http://purl.obolibrary.org/obo/DOID_3490

https://omim.org/phenotypicSeries/PS163950

http://purl.obolibrary.org/obo/Orphanet_648
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
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0021060
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018997 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018997 MONDO 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018997 MONDO 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