Noonan syndrome 9

Preferred Label : Noonan syndrome 9;

Symbol : NS9;

CISMeF acronym : NS9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SOS Ras/Rac guanine nucleotide exchange factor 2 gene (SOS2, 601247.0001);

Prefixed ID : #616559;

Details

Origin ID

616559;

UMLS CUI

C4225282;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome 9 [DO Concept]
- SOS2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Noonan Syndrome 9 [NCIt concept]
DO Cross reference
- Noonan syndrome 9 [DO Concept]
Genes related to phenotype
- Sos ras/rac guanine nucleotide exchange factor 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Curly hair [HPO term]
- Downslanted palpebral fissures [HPO term]
- Global developmental delay [HPO term]
- Hydroureter [HPO term]
- Hyperkeratosis pilaris [HPO term]
- Hypertelorism [HPO term]
- Keratosis pilaris [HPO term]
- Prolonged prothrombin time [HPO term]
- Prominent corneal nerve fibers [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sparse eyebrow [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 9 [NCIt concept]

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