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"

106 matching diseasesClear search ×

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

ORPHA:2751

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

ORPHA:2703

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

ORPHA:186

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

ORPHA:217335

Scalp-ear-nipple syndrome

Finlay-Marks syndrome

ORPHA:2036

Sheehan syndrome

ORPHA:91355

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

ORPHA:3138

W syndrome

Pallister-W syndrome

ORPHA:2804

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Weill-Marchesani syndrome

ORPHA:3449