Noonan syndrome 12

Preferred Label : Noonan syndrome 12;

Symbol : NS12;

CISMeF acronym : NS12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the related RAS viral oncogene homolog-2 gene (RRAS2, 600098.0001);

Prefixed ID : #618624;

Détails

Origin ID

618624;

UMLS CUI

C5231432;

Currated CISMeF NLP mapping
- Noonan Syndrome 12 [NCIt concept]
Genes related to phenotype
- Related ras viral oncogene homolog 2 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Amblyopia [HPO term]
- Anteriorly placed anus [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chiari malformation [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Esotropia [HPO term]
- Feeding difficulties in infancy [HPO term]
- Glabellar hemangioma [HPO term]
- Hypermetropia [HPO term]
- Hypotonia [HPO term]
- Lymphopenia [HPO term]
- Mild global developmental delay [HPO term]
- Motor delay [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Proximal placement of thumb [HPO term]
- Spinal canal stenosis [HPO term]
- Strabismus [HPO term]
- Supravalvular aortic stenosis [HPO term]
- Tetralogy of Fallot [HPO term]
- Thrombocytopenia [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 12 [NCIt concept]

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

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