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"

12 matching diseasesClear search ×

Congenital esophageal diverticulum

Congenital esophageal pouch

ORPHA:91358

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

ORPHA:157826

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

ORPHA:645749

Congenital laryngeal cyst

ORPHA:141124

Congenital laryngeal palsy

Congenital vocal cord paralysis

ORPHA:137932

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Esophageal atresia

CEA · Congenital esophageal atresia

ORPHA:1199

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Neuroendocrine neoplasm of esophagus

Esophageal NEN · Esophageal neuroendocrine neoplasm

ORPHA:506136