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"

13 matching diseasesClear search ×

Weissenbacher-Zweymuller syndrome

Pierre Robin sequence-fetal chondrodysplasia syndrome · Pierre Robin syndrome-fetal chondrodysplasia syndrome

ORPHA:3450

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

ORPHA:1388

Chondrodysplasia punctata

CDP

ORPHA:93442

Chondrodysplasia-difference of sex development syndrome

Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome

ORPHA:1422

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

ORPHA:436003

Genetic syndromic Pierre Robin syndrome

ORPHA:363294

Lethal chondrodysplasia

ORPHA:93465

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

ORPHA:83629

Pierre Robin syndrome-faciodigital anomaly syndrome

Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome

ORPHA:2888

Pili torti-onychodysplasia syndrome

ORPHA:2890

Rare disease with Pierre Robin syndrome

ORPHA:138044

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

ORPHA:2886

Teratogenic Pierre Robin syndrome

Teratogenic Pierre Robin sequence

ORPHA:138059