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"

15 matching diseasesClear search ×

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy

ORPHA:563708

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

ORPHA:295000

Congenital chronic diarrhea with protein-losing enteropathy

Congenital chronic diarrhea with exudative enteropathy

ORPHA:329242

Congenital enteropathy due to enteropeptidase deficiency

Congenital enterokinase deficiency

ORPHA:168601

Congenital enteropathy involving intestinal mucosa development

ORPHA:104007

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

ORPHA:91413

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital myasthenic syndrome

CMS

ORPHA:590

Congenital myopathy

ORPHA:97245

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

ORPHA:290

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

ORPHA:103908

Congenital tufting enteropathy

Intestinal epithelial dysplasia · IED

ORPHA:92050

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

ORPHA:91495

Syndromic autoimmune enteropathy

ORPHA:522043