neurofibromatosis-Noonan syndrome
Information
- Disease name
- neurofibromatosis-Noonan syndrome
- Disease ID
- DOID:0111683
- Description
- "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12707950, url:https\://www.ncbi.nlm.nih.gov/pubmed/2411134]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT06147414 | Not yet recruiting | Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders | April 2024 | December 2026 |
- Disase is a (Disease Ontology)
- DOID:0080690
- Cross Reference ID (Disease Ontology)
- GARD:372
- Cross Reference ID (Disease Ontology)
- MESH:C537393
- Cross Reference ID (Disease Ontology)
- MIM:601321
- Cross Reference ID (Disease Ontology)
- ORDO:638
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715344006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C2931482
- Exact Synonym (Disease Ontology)
- neurofibromatosis type 1-Noonan syndrome
- Exact Synonym (Disease Ontology)
- neurofibromatosis with Noonan phenotype
- Exact Synonym (Disease Ontology)
- NFNS
- Exact Synonym (Disease Ontology)
- Noonan neurofibromatosis syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 638
- MedGen concept unique identifier (MedGen Concept name)
- C2931482
- MedGen unique identifier (MedGen Concept name)
- 419089