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"

78 matching diseasesClear search ×

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

ORPHA:295000

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

ORPHA:440233

Congenital achiasma

ORPHA:324353

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital alacrima

ORPHA:98604

Congenital amyoplasia

Amyoplasia congenita

ORPHA:488586

Congenital analbuminemia

ORPHA:86816

Congenital anomaly of superior vena cava

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

ORPHA:95498

Congenital chylothorax

ORPHA:264688

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

ORPHA:700487

Congenital cornea plana

ORPHA:53691

Congenital cystic eye

Congenital anophthalmos with cyst

ORPHA:519384

Congenital ectropion

ORPHA:98570

Congenital Epstein-Barr virus infection

Antenatal Epstein-Barr virus infection · Mother-to-child transmission of Epstein-Barr virus infection

ORPHA:70596

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

ORPHA:157826

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

ORPHA:645749

Congenital genu flexum

ORPHA:295232

Congenital genu recurvatum

ORPHA:295229

Congenital Gerbode defect

Left ventricular-to-right atrial communication

ORPHA:99095

Congenital glaucoma

Buphthalmia · Buphthalmos

ORPHA:98976

Congenital heart block

Congenital atrioventricular block

ORPHA:60041

Congenital hemangioma

ORPHA:458775

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

ORPHA:91413

Congenital hydrocephalus

ORPHA:2185

Congenital hypothyroidism

ORPHA:442

Congenital laryngeal cyst

ORPHA:141124

Congenital laryngeal palsy

Congenital vocal cord paralysis

ORPHA:137932

Congenital laryngomalacia

ORPHA:2373

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital macroglossia

ORPHA:2430

Congenital megacalycosis

ORPHA:93109

Congenital megaprepuce

Isolated congenital buried penis

ORPHA:696897

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital microgastria

ORPHA:199293

Congenital mitral stenosis

ORPHA:99057

Congenital myasthenic syndrome

CMS

ORPHA:590

Congenital myopathy

ORPHA:97245

Congenital myotonia

ORPHA:206973

Congenital neutropenia

Constitutional neutropenia

ORPHA:101987

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

ORPHA:440221

Congenital pancreatic cyst

Neonatal congenital pancreatic cyst · True congenital pancreatic cyst

ORPHA:313906

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

ORPHA:290

Congenital sialidosis type 2

ORPHA:93400

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

ORPHA:103908

Congenital subglottic stenosis

ORPHA:141121