has material basis in germline mutation in disease has feature NF1 eye disorder obsolete Moyamoya syndrome neurofibromatosis type 1 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6623 https://github.com/monarch-initiative/mondo/issues/9097 https://github.com/monarch-initiative/mondo/issues/9285 A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. type 1 neurofibromatosis MESH:C538607 MONDO:0018975 nonmosaic neurofibromatosis type 1 NF1 neurofibromatosis type 1 icd11.foundation:337970533 NANDO:2100287 Nf1-Microdeletion syndrome neurofibromatosis 1 UMLS:C0027831 MedDRA:10047712 ICD10CM:Q85.01 neurofibromatosis SCTID:92824003 peripheral neurofibromatosis OMIM:162200 ICD9:237.71 NCIT:C3273 neurofibromatosis type i NORD:1502 DOID:0111253 Recklinghausen's disease DECIPHER:15 NANDO:1200225 MEDGEN:18013 NANDO:1200226 Orphanet:636 Neurofibromatosis 1 neurofibromatosis, type 1 GARD:0007866 NANDO:2201003 nonmosaic NF1 MESH:D009456 hyperpigmentation of the skin obsolete rare skin tumor or hamartoma developmental defect during embryogenesis RASopathy neurofibromatosis neurocristopathy