Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	neurofibromatosis-Noonan syndrome
Synonyms	NFNS
Definitions	A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.
ID	http://purl.obolibrary.org/obo/DOID_0111683
database_cross_reference	OMIM:601321 SNOMEDCT_US_2022_09_01:715344006 MESH:C537393 UMLS_CUI:C2931482 ORDO:638 GARD:372
definition	A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.
has exact synonym	NFNS neurofibromatosis with Noonan phenotype neurofibromatosis type 1-Noonan syndrome Noonan neurofibromatosis syndrome
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has symptom	http://purl.obolibrary.org/obo/SYMP_0000369 http://purl.obolibrary.org/obo/SYMP_0000094
has_obo_namespace	disease_ontology
id	DOID:0111683
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	neurofibromatosis-Noonan syndrome
notation	DOID:0111683
prefLabel	neurofibromatosis-Noonan syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050736

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537393	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/601321	Online Mendelian Inheritance in Man	LOOM