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"

22 matching diseasesClear search ×

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

ORPHA:440221

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

ORPHA:440233

Congenital ectropion

ORPHA:98570

Congenital ectropion uveae

ORPHA:91491

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 laryngeal cyst

ORPHA:141124

Congenital limb malformation

ORPHA:68378

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Congenital temporomandibular joint ankylosis

Congenital trismus

ORPHA:210576

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

ORPHA:98686

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

ORPHA:231679

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

ORPHA:231692

Leber congenital amaurosis

Amaurosis congenita of Leber

ORPHA:65

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631