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"

14 matching diseasesClear search ×

Congenital pseudoarthrosis of the tibia

Congenital pseudarthrosis of the tibia

ORPHA:295018

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital anomaly of superior vena cava

Congenital anomaly of superior caval vein · Congenital anomaly of the SVC

ORPHA:95498

Congenital anomaly of the inferior vena cava

Congenital anomaly of the IVC · Congenital anomaly of the inferior caval vein

ORPHA:95499

Congenital cervical spinal stenosis

Congenital narrowing of cervical spinal canal · Congenital stenosis of the cervical spine

ORPHA:831

Congenital pseudoarthrosis of the clavicle

Congenital pseudarthrosis of the clavicle

ORPHA:66630

Congenital pseudoarthrosis of the femur

Congenital pseudarthrosis of the femur

ORPHA:295020

Congenital pseudoarthrosis of the fibula

Congenital pseudarthrosis of the fibula

ORPHA:295022

Congenital pseudoarthrosis of the radius

Congenital pseudarthrosis of the radius

ORPHA:295024

Congenital pseudoarthrosis of the ulna

Congenital pseudarthrosis of the ulna

ORPHA:295026

Congenital ptosis

ORPHA:91411

Congenital stenosis of the inferior vena cava

Congenital stenosis of the IVC · Congenital stenosis of the inferior caval vein

ORPHA:99122

Isolated pseudoarthrosis of the limbs

Isolated congenital pseudarthrosis of the limbs · Congenital pseudoarthrosis of the limbs

ORPHA:157808

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

ORPHA:93322