Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0008104 http://purl.obolibrary.org/obo/MONDO_0008104
Preferred Name	Noonan syndrome 1
Definitions	Noonan syndrome caused by mutations in the PTPN11 gene.
Synonyms	Male Turner syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome Noonan syndrome pterygium colli syndrome Noonan syndrome type 1 Noonan syndrome 1 NS1
Type	http://www.w3.org/2002/07/owl#Class

definition	Noonan syndrome caused by mutations in the PTPN11 gene.
label	Noonan syndrome 1
prefLabel	Noonan syndrome 1
database_cross_reference	UMLS:C4551602 OMIM:163950 GARD:7223 DOID:0060578 MEDGEN:1638960 NCIT:C75459 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/2554
notation	MONDO:0008104
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
has_related_synonym	Male Turner syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome Noonan syndrome pterygium colli syndrome
id	MONDO:0008104
skos_exactMatch	http://purl.obolibrary.org/obo/NCIT_C75459 http://linkedlifedata.com/resource/umls/id/C4551602 http://identifiers.org/medgen/1638960 https://omim.org/entry/163950 http://purl.obolibrary.org/obo/DOID_0060578
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018997
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	Noonan syndrome type 1 Noonan syndrome 1 NS1
treeView	http://purl.obolibrary.org/obo/MONDO_0018997

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