Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024

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

label	Noonan syndrome 1
prefLabel	Noonan syndrome 1
exactMatch	http://purl.obolibrary.org/obo/NCIT_C75459 http://identifiers.org/omim/163950 http://purl.obolibrary.org/obo/DOID_0060578
database_cross_reference	GARD:0007223 OMIM:163950 DOID:0060578 NCIT:C75459
notation	MONDO:0008104
has related synonym	Male Turner syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome Noonan syndrome pterygium colli syndrome
id	MONDO:0008104
disease has basis in dysfunction of	http://identifiers.org/hgnc/9644
textual definition	Noonan syndrome caused by mutations in the PTPN11 gene.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018997
imported from	http://purl.obolibrary.org/obo/mondo.owl
closeMatch	http://linkedlifedata.com/resource/umls/id/C1527404 http://linkedlifedata.com/resource/umls/id/C0041409
type	http://www.w3.org/2002/07/owl#Class
has exact synonym	Noonan syndrome type 1 Noonan syndrome 1 NS1

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