Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

14 matching diseasesClear search ×

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

ORPHA:93921

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

ORPHA:97685

Desmoid tumor

aggressive fibromatosis · desmoid-type fibromatosis

ORPHA:ORPHA:873

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

ORPHA:637

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

ORPHA:137605

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

ORPHA:634461

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

ORPHA:634475

Mosaic schwannomatosis

Mosaic SWN · MNF3

ORPHA:634492

Neurofibroma

ORPHA:252183

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

ORPHA:ORPHA:636

Neurofibromatosis-Noonan syndrome

NFNS · Neurofibromatosis type 1-Noonan syndrome

ORPHA:638

Neurofibromatosis/schwannomatosis

NF/SWN

ORPHA:634518

OBSOLETE: Familial spinal neurofibromatosis

ORPHA:79429

OBSOLETE: Neurofibromatosis

ORPHA:68388