Noonan syndrome 11

Preferred Label : Noonan syndrome 11;

Symbol : NS11;

CISMeF acronym : NS11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the muscle RAS oncogene homolog gene (MRAS, 608435.0001);

Prefixed ID : #618499;

Details

Origin ID

618499;

UMLS CUI

C5193130;

Automatic exact mappings (from CISMeF team)
- MRAS wt Allele [NCIt concept]
- NS 11 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Noonan Syndrome 11 [NCIt concept]
Genes related to phenotype
- Muscle ras viral oncogene homolog [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Bulbous nose [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Pectus excavatum [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Relative macrocephaly [HPO term]
- Short stature [HPO term]
- Thick vermilion border [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 11 [NCIt concept]

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