Human Disease Ontology

Last uploaded: November 1, 2024

Preferred Name	Noonan syndrome 1
Synonyms	NS1
Definitions	A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
ID	http://purl.obolibrary.org/obo/DOID_0060578
database_cross_reference	ICD10CM:Q87.1 MIM:163950
definition	A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
has exact synonym	NS1
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_alternative_id	DOID:0070101
has_obo_namespace	disease_ontology
id	DOID:0060578
label	Noonan syndrome 1
notation	DOID:0060578
prefLabel	Noonan syndrome 1
subClassOf	http://purl.obolibrary.org/obo/DOID_3490 http://purl.obolibrary.org/obo/DOID_0050736

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0060578	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0060578	DDSS	SAME_URI
http://purl.obolibrary.org/obo/DOID_0060578	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0060578	FNS-H	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008104	MONDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C75459	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/163950	OMIM	LOOM
http://identifiers.org/omim/163950	REXO	LOOM
http://identifiers.org/omim/163950	GEXO	LOOM
http://identifiers.org/omim/163950	RETO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75459	NCIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008104	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0008104	KTAO	LOOM
http://purl.obolibrary.org/obo/DOID_0060578	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060578	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0060578	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060578	FNS-H	LOOM
http://purl.obolibrary.org/obo/OMIM_163950	CCO	LOOM