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 fibula

Congenital pseudarthrosis of the fibula

ORPHA:295022

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital cervical spinal stenosis

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

ORPHA:831

Congenital fibrosis of extraocular muscles

FEOM

ORPHA:45358

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

ORPHA:839

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 radius

Congenital pseudarthrosis of the radius

ORPHA:295024

Congenital pseudoarthrosis of the tibia

Congenital pseudarthrosis of the tibia

ORPHA:295018

Congenital pseudoarthrosis of the ulna

Congenital pseudarthrosis of the ulna

ORPHA:295026

Congenital stenosis of the inferior vena cava

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

ORPHA:99122

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

ORPHA:93323

Isolated pseudoarthrosis of the limbs

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

ORPHA:157808

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis

ORPHA:2879