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"

35 matching diseasesClear search ×

Congenital stenosis of the inferior vena cava

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

ORPHA:99122

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 coronary sinus

ORPHA:95500

Congenital anomaly of the great veins

ORPHA:363189

Congenital anomaly of the inferior vena cava

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

ORPHA:95499

Congenital aortic valve stenosis

ORPHA:3093

Congenital cervical spinal stenosis

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

ORPHA:831

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

ORPHA:645749

Congenital infiltrating lipomatosis of the face

CIL-F · Facial infused lipomatosis

ORPHA:583097

Congenital malformation of the eyelid

ORPHA:98561

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital mitral stenosis

ORPHA:99057

Congenital mitral valve insufficiency and/or stenosis

ORPHA:95464

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 tibia

Congenital pseudarthrosis of the tibia

ORPHA:295018

Congenital pseudoarthrosis of the ulna

Congenital pseudarthrosis of the ulna

ORPHA:295026

Congenital ptosis

ORPHA:91411

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

ORPHA:3189

Congenital pulmonary veins atresia or stenosis

ORPHA:3188

Congenital renal artery stenosis

Congenital renovascular hypoplasia

ORPHA:97598

Congenital sialidosis type 2

ORPHA:93400

Congenital subglottic stenosis

ORPHA:141121

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

ORPHA:858

Congenital tracheal stenosis

ORPHA:141127

Congenital tricuspid stenosis

ORPHA:95459

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

ORPHA:99087

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

ORPHA:88621

Isolated pseudoarthrosis of the limbs

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

ORPHA:157808

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

ORPHA:642071