has material basis in germline mutation in NF1 neurofibromatosis-Noonan syndrome https://github.com/monarch-initiative/mondo/issues/4374 https://github.com/monarch-initiative/mondo/issues/5682 https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome https://www.malacards.org/card/neurofibromatosis_noonan_syndrome GARD:0000372 OMIM:601321 MONDO:0011035 NFNS Noonan neurofibromatosis syndrome A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS). UMLS:C2931482 Orphanet:638 MESH:C537393 icd11.foundation:679913930 SCTID:715344006 MEDGEN:419089 neurofibromatosis-Noonan syndrome DOID:0111683 neurofibromatosis type 1-Noonan syndrome hyperpigmentation of the skin obsolete rare skin tumor or hamartoma developmental defect during embryogenesis RASopathy neurofibromatosis