Rare Disease Library

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

Desmoid tumor

aggressive fibromatosis · desmoid-type fibromatosis

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

Mosaic schwannomatosis

Mosaic SWN · MNF3

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

Neurofibromatosis-Noonan syndrome

NFNS · Neurofibromatosis type 1-Noonan syndrome

Neurofibromatosis/schwannomatosis

NF/SWN

OBSOLETE: Neurofibromatosis