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"

25 matching diseasesClear search ×

Congenital Epstein-Barr virus infection

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

ORPHA:70596

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

ORPHA:295000

Chronic Epstein-Barr virus infection syndrome

Chronic EBV infection syndrome · CAEBV syndrome

ORPHA:2566

Congenital cystic eye

Congenital anophthalmos with cyst

ORPHA:519384

Congenital ectropion

ORPHA:98570

Congenital ectropion uveae

ORPHA:91491

Congenital enterovirus infection

Antenatal enterovirus infection · Mother-to-child transmission of enterovirus infection

ORPHA:292

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

ORPHA:157826

Congenital eyelid retraction

ORPHA:99176

Congenital herpes simplex virus infection

Mother-to-child transmission of herpes simplex virus infection · Antenatal herpes simplex virus infection

ORPHA:293

Congenital knee dislocation

ORPHA:295034

Congenital limb malformation

ORPHA:68378

Congenital lobar emphysema

Congenital lobar hyperinflation · Infantile lobar hyperinflation

ORPHA:1928

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital mitral malformation

ORPHA:2447

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

ORPHA:440221

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Fetal cytomegalovirus syndrome

Mother-to-child transmission of cytomegalovirus syndrome · Antenatal cytomegalovirus infection

ORPHA:294

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Isolated congenital ectropion

ORPHA:99171

Isolated congenital entropion

ORPHA:519386

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631