Noonan syndrome 6

Preferred Label : Noonan syndrome 6;

Symbol : NS6;

CISMeF acronym : NS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NRAS proto-oncogene, GTPase gene (NRAS, 164790.0004);

Prefixed ID : #613224;

Détails

Origin ID

613224;

UMLS CUI

C2750732;

Automatic exact mappings (from CISMeF team)
- NRAS wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Noonan Syndrome 6 [NCIt concept]
- Noonan Syndrome 6 [MeSH concept]
- Noonan syndrome 6 [DO Concept]
- noonan syndrome 6 [MeSH Supplementary Concept]
DO Cross reference
- Noonan syndrome 6 [DO Concept]
Genes related to phenotype
- Nras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Broad forehead [HPO term]
- Cafe-au-lait spot [HPO term]
- Cryptorchidism [HPO term]
- Curly hair [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Edema [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intellectual disability, borderline [HPO term]
- Juvenile myelomonocytic leukemia [HPO term]
- Keratosis pilaris [HPO term]
- Long eyebrows [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Motor delay [HPO term]
- Multiple lentigines [HPO term]
- Myopia [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Pulmonic stenosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Single umbilical artery [HPO term]
- Sparse hair [HPO term]
- Webbed neck [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 6 [MeSH concept]
- Noonan Syndrome 6 [NCIt concept]
- Noonan syndrome 6 [DO Concept]
- noonan syndrome 6 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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