Noonan syndrome 5

Preferred Label : Noonan syndrome 5;

Symbol : NS5;

CISMeF acronym : NS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the raf-1 proto-oncogene, serine/threonine kinase gene (RAF1, 164760.0001);

Prefixed ID : #611553;

Détails

Origin ID

611553;

UMLS CUI

C1969057;

Automatic exact mappings (from CISMeF team)
- 8-dehydroxythienamycin [MeSH Supplementary Concept]
- RAF1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Noonan syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Noonan Syndrome 5 [NCIt concept]
- Noonan Syndrome 5 [MeSH concept]
- Noonan syndrome 5 [DO Concept]
- noonan syndrome 5 [MeSH Supplementary Concept]
DO Cross reference
- Noonan syndrome 5 [DO Concept]
Genes related to phenotype
- Raf1 protooncogene, serine/threonine kinase [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal sternum morphology [HPO term]
- Arrhythmia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dry skin [HPO term]
- Epicanthus [HPO term]
- Fine hair [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intellectual disability [HPO term]
- Keratosis pilaris [HPO term]
- Large for gestational age [HPO term]
- Laryngomalacia [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Multiple lentigines [HPO term]
- Nevus [HPO term]
- Polyhydramnios [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Sparse eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Thickened helices [HPO term]
- Webbed neck [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 5 [MeSH concept]
- Noonan Syndrome 5 [NCIt concept]
- Noonan syndrome 5 [DO Concept]
- noonan syndrome 5 [MeSH Supplementary Concept]

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

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