Online Mendelian Inheritance in Man - NOONAN SYNDROME 13 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619087 http://purl.bioontology.org/ontology/OMIM/619087
Preferred Name	NOONAN SYNDROME 13
Synonyms	NS13
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NS13
prefLabel	NOONAN SYNDROME 13
Gene Symbol	PRKM1 ERK2 MAPK1 NS13
Scope Statement	Caused by mutation in the mitogen-activated protein kinase-1 gene (MAPK1, 176948.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU005403 http://purl.bioontology.org/ontology/OMIM/MTHU001954 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU072238 http://purl.bioontology.org/ontology/OMIM/MTHU036754 http://purl.bioontology.org/ontology/OMIM/MTHU004212 http://purl.bioontology.org/ontology/OMIM/MTHU007297 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU006809 http://purl.bioontology.org/ontology/OMIM/MTHU072233 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU072231 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU065071 http://purl.bioontology.org/ontology/OMIM/MTHU072236 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU007254 http://purl.bioontology.org/ontology/OMIM/MTHU062858 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU025461 http://purl.bioontology.org/ontology/OMIM/MTHU072235 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU000567 http://purl.bioontology.org/ontology/OMIM/MTHU000267 http://purl.bioontology.org/ontology/OMIM/MTHU072237 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU043125 http://purl.bioontology.org/ontology/OMIM/MTHU002207 http://purl.bioontology.org/ontology/OMIM/MTHU000564 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU005305 http://purl.bioontology.org/ontology/OMIM/MTHU012071 http://purl.bioontology.org/ontology/OMIM/MTHU002341 http://purl.bioontology.org/ontology/OMIM/MTHU036841 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU030713 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU072234 http://purl.bioontology.org/ontology/OMIM/MTHU020811 http://purl.bioontology.org/ontology/OMIM/MTHU036375 http://purl.bioontology.org/ontology/OMIM/MTHU072232 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU072230 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU004024 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU011786 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	22q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619087
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5436773
OMIM Entry Type	3
OMIM MimType Value	pound

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