Noonan syndrome 4

Noonan syndrome that has material basis in heterozygous mutation in the SOS1 gene on chromosome 2p22

Wikidata entity: Q26492792

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url None ???
P2293 genetic association ... Q14908123 (SOS1) SOS1
P31 instance of ... Q929833 (rare disease) rare disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q200779 (genetic disease) genetic disease
P279 subclass of ... Q1543446 (Noonan syndrome) Noonan syndrome
P279 subclass of ... Q18553439 (autosomal dominant disease) autosomal dominant disease
External Ids
P4317GARD rare disease ID10699
P4229ICD-10-CMQ87.1
P486MeSH descriptor IDC548082
P5270Mondo IDMONDO_0012547
P492OMIM ID610733
P492OMIM ID610733
P2892UMLS CUIC1853120
P11430UniProt disease IDDI-02074

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log id: 5717052