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"

9 matching diseasesClear search ×

Desmoid tumor

aggressive fibromatosis · desmoid-type fibromatosis

ORPHA:ORPHA:873

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

ORPHA:637

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

ORPHA:93921

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

ORPHA:79230

Ledderhose disease

Plantar fibromatosis

ORPHA:199251

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

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

ORPHA:ORPHA:636