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 ×

TARP syndrome

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

ORPHA:2886

Cataract-congenital heart disease-neural tube defect syndrome

ORPHA:314993

Catel-Manzke syndrome

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

ORPHA:1388

Cleft palate-congenital heart defect-intellectual disability syndrome

ORPHA:652519

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

ORPHA:1355

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

ORPHA:436003

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome

ORPHA:2255

Pierre Robin syndrome-faciodigital anomaly syndrome

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

ORPHA:2888

Robin sequence-oligodactyly syndrome

Pierre Robin sequence-oligodactyly syndrome

ORPHA:3104

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

ORPHA:689822

Teratogenic Pierre Robin syndrome

Teratogenic Pierre Robin sequence

ORPHA:138059

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

ORPHA:488618

Weissenbacher-Zweymuller syndrome

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

ORPHA:3450