Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/616559
http://purl.bioontology.org/ontology/OMIM/616559
Preferred Name

NOONAN SYNDROME 9
Synonyms
NS9
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NS9
prefLabel
NOONAN SYNDROME 9
Gene Symbol
SOS2
NS9
Scope Statement
Caused by mutation in the SOS Ras/Rac guanine nucleotide exchange factor 2 gene (SOS2, 601247.0001) [MOLECULAR BASIS]
Five patients from 3 unrelated families have been reported (last curated September 2015) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU037287
http://purl.bioontology.org/ontology/OMIM/MTHU007485
http://purl.bioontology.org/ontology/OMIM/MTHU003335
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU036403
http://purl.bioontology.org/ontology/OMIM/MTHU006083
http://purl.bioontology.org/ontology/OMIM/MTHU052237
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU033936
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU052238
http://purl.bioontology.org/ontology/OMIM/MTHU002343
http://purl.bioontology.org/ontology/OMIM/MTHU004003
http://purl.bioontology.org/ontology/OMIM/MTHU000145
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tui
T047
Gene Locus
14q21
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
616559
Semantic type UMLS property
Has inheritance type
cui
C4225282
OMIM Entry Type
3
OMIM MimType Value
pound
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