Human Disease Ontology

Last uploaded: November 1, 2024
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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

SNOMEDCT_US_2023_03_01:88327006

ICD10CM:Q87.19

MIM:PS163950

MESH:D009634

UMLS_CUI:C0028326

GARD:10955

NCI:C34854

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#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

Noonan syndrome
notation

DOID:3490
prefLabel

Noonan syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050177

http://purl.obolibrary.org/obo/DOID_0080690
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3490 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_3490 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3490 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3490 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_3490 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3490 FNS-H 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 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 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
http://www.gamuts.net/entity#Noonan_syndrome GAMUTS REST