Noonan syndrome 10

Preferred Label : Noonan syndrome 10;

Symbol : NS10;

CISMeF acronym : NS10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the leucine zipper-like transcriptional regulator 1 gene (LZTR1, 600574.0007);

Prefixed ID : #616564;

Détails

Origin ID

616564;

UMLS CUI

C4225280;

Automatic exact mappings (from CISMeF team)
- LZTR1 wt Allele [NCIt concept]
- Noonan syndrome 10 [DO Concept]
Currated CISMeF NLP mapping
- Noonan Syndrome 10 [NCIt concept]
DO Cross reference
- Noonan syndrome 10 [DO Concept]
Genes related to phenotype
- Leucine zipper-like transcriptional regulator 1 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperextensible skin [HPO term]
- Hyperkeratosis [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased nuchal translucency [HPO term]
- Keratosis pilaris [HPO term]
- Left ventricular hypertrophy [HPO term]
- Low-set ears [HPO term]
- Mitral regurgitation [HPO term]
- Mitral stenosis [HPO term]
- Mitral valve prolapse [HPO term]
- Narrow forehead [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pleural effusion [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prominent corneal nerve fibers [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Reduced factor XI activity [HPO term]
- Relative macrocephaly [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sparse eyebrow [HPO term]
- Underdeveloped supraorbital ridges [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 10 [NCIt concept]

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

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