| Metadata | |
|---|---|
| ID | DOID:0111683 |
| Name | neurofibromatosis-Noonan syndrome |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/12707950, https://www.ncbi.nlm.nih.gov/pubmed/2411134 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715344006 |
| SKOS |
exactMatch GARD:372 exactMatch UMLS_CUI:C2931482 exactMatch MESH:C537393 exactMatch ORDO:638 exactMatch SNOMEDCT_US_2023_03_01:715344006 exactMatch MIM:601321 |
| Subsets |
DO_rare_slim |
| Synonyms |
neurofibromatosis type 1-Noonan syndrome [EXACT] neurofibromatosis with Noonan phenotype [EXACT] NFNS [EXACT] Noonan neurofibromatosis syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a RASopathy |
| Subclass Logical Relationships |
has symptom some ptosis has phenotype some Short stature has material basis in some autosomal dominant inheritance has symptom some muscle weakness |