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"

8 matching diseasesClear search ×

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

ORPHA:634461

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

ORPHA:ORPHA:636

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

NF-1 · NF1

ORPHA:363700

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

ORPHA:97685

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

ORPHA:137605

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

ORPHA:93111

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinemic hypoglycemia due to HNF1A deficiency

ORPHA:324575

RNF13-related severe early-onset epileptic encephalopathy

RNF13-related severe EOEE

ORPHA:544503