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"

28 matching diseasesClear search ×

Congenital anomaly of the inferior vena cava

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

ORPHA:95499

Anomaly of the coronary ostia

ORPHA:542822

Anomaly of the filum

ORPHA:645282

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital anomaly of hepatic vein

ORPHA:95507

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 arteries

Congenital aorta, aortic arch or pulmonary arteries anomaly

ORPHA:98724

Congenital anomaly of the great veins

ORPHA:363189

Congenital anomaly of the tricuspid valve chordae

Congenital anomaly of tricuspid chordae tendineae · Congenital anomaly of tricuspid tendinous chords

ORPHA:99055

Congenital cervical spinal stenosis

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

ORPHA:831

Congenital malformation of the eyelid

ORPHA:98561

Congenital pericardium anomaly

ORPHA:2846

Congenital pseudoarthrosis of the femur

Congenital pseudarthrosis of the femur

ORPHA:295020

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 pulmonary airway malformation

CCAM · CPAM

ORPHA:2444

Congenital pulmonary veins anomaly

ORPHA:98729

Congenital pulmonary venous return anomaly

Congenital pulmonary venous connection anomaly

ORPHA:3090

Congenital stenosis of the inferior vena cava

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

ORPHA:99122

Congenital systemic veins anomaly

ORPHA:3091

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Congenital total pulmonary venous return anomaly

ORPHA:99125

Congenital urachal anomaly

ORPHA:435743

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

ORPHA:982

Rare congenital anomaly of ventricular septum

Congenital ventricular septal anomaly · Congenital anomaly of interventricular communication

ORPHA:474347

Renal or urinary tract malformation

CAKUT · Congenital anomalies of kidney and urinary tract

ORPHA:93545