Noonan syndrome 7

Preferred Label : Noonan syndrome 7;

Symbol : NS7;

CISMeF acronym : NS7;

Type : Phenotype, molecular basis known;

Description : Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the murine sarcoma viral (v-raf) oncogene homolog B1 gene (BRAF, 164757.0022);

Prefixed ID : #613706;

Details

Origin ID

613706;

UMLS CUI

C3150970;

Automatic exact mappings (from CISMeF team)
- 4-(4-fluorophenyl)-2-methyl-6-(5-piperidinopentyloxy)pyrimidine hydrochloride [MeSH Supplementary Concept]
- BRAF wt Allele [NCIt concept]
- Noonan Syndrome 7 [NCIt concept]
Currated CISMeF NLP mapping
- Noonan syndrome 7 [DO Concept]
DO Cross reference
- Noonan syndrome 7 [DO Concept]
Genes related to phenotype
- B-raf protooncogene, serine/threonine kinase [OMIM gene]
HPO term(s)
- Abnormal esophagus morphology [HPO term]
- Abnormality of the chin [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cognitive impairment [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Deep palmar crease [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hyperhidrosis [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Impaired oropharyngeal swallow response [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Large earlobe [HPO term]
- Large for gestational age [HPO term]
- Lentigo maligna melanoma [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Narrow forehead [HPO term]
- Nasogastric tube feeding in infancy [HPO term]
- Numerous nevi [HPO term]
- Palpebral thickening [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Poor suck [HPO term]
- Prominent forehead [HPO term]
- Pulmonic stenosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Shield chest [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Thick vermilion border [HPO term]
- Thickened helices [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 7 [NCIt concept]
- Noonan syndrome 7 [DO Concept]

Keyword's position in hierarchy(ies) :

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