Neurofibromatosis-noonan syndrome

Preferred Label : Neurofibromatosis-noonan syndrome;

Symbol : NFNS;

CISMeF acronym : NFNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Noonan-neurofibromatosis syndrome; Neurofibromatosis with noonan phenotype;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurofibromin gene (NF1, 613113.0033);

Neoplasia : Low incidence of plexiform neurofibromas; Neurofibromas; Optic glioma;

Prefixed ID : #601321;

Details

Origin ID

601321;

UMLS CUI

C2931482;

Automatic exact mappings (from CISMeF team)
- NF1 wt Allele [NCIt concept]
- neurofibromatosis-Noonan syndrome [DO Concept]
Currated CISMeF NLP mapping
- Neurofibromatosis Noonan syndrome (disorder) [SNOMED CT concept]
- Neurofibromatosis-Noonan syndrome [MeSH concept]
- Neurofibromatosis-Noonan syndrome [MeSH Supplementary Concept]
- Neurofibromatosis-Noonan syndrome [ORDO Disease]
- neurofibromatosis with Noonan phenotype [Disease (Nov.)]
DO Cross reference
- neurofibromatosis-Noonan syndrome [DO Concept]
Genes related to phenotype
- Neurofibromin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Axillary freckling [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Inguinal freckling [HPO term]
- Intellectual disability [HPO term]
- Lisch nodules [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Multiple cafe-au-lait spots [HPO term]
- Muscle weakness [HPO term]
- Neuroblastoma [HPO term]
- Neurofibromas [HPO term]
- Optic nerve glioma [HPO term]
- Pectus excavatum [HPO term]
- Pectus excavatum of inferior sternum [HPO term]
- Plexiform neurofibroma [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasolabial fold [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Scoliosis [HPO term]
- Secundum atrial septal defect [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Specific learning disability [HPO term]
- Superior pectus carinatum [HPO term]
- Thick vermilion border [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Neurofibromatosis-Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurofibromatosis Noonan syndrome (disorder) [SNOMED CT concept]
- Neurofibromatosis-Noonan syndrome [ORDO Disease]
- Neurofibromatosis-Noonan syndrome [MeSH Supplementary Concept]
- Neurofibromatosis-Noonan syndrome [MeSH concept]
- neurofibromatosis with Noonan phenotype [Disease (Nov.)]
- neurofibromatosis-Noonan syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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