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 ×

Spontaneous intestinal perforation

Focal intestinal perforation · Isolated perforation

ORPHA:645793

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

ORPHA:263524

Isolated adrenal medullary hyperplasia

Isolated AMH

ORPHA:688649

Isolated anal canal duplication

ACD

ORPHA:684752

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

ORPHA:209908

Isolated colonic duplication

Isolated duplication of the colon

ORPHA:662392

Isolated congenital hepatic fibrosis

Isolated CHF

ORPHA:485426

Isolated duodenal duplication

Isolated duplication of the duodenum

ORPHA:662473

Isolated gastric duplication

Isolated stomach duplication

ORPHA:662376

Isolated idiopathic anterior uveitis

Isolated IAU

ORPHA:280914

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

ORPHA:99885

Isolated persistent urogenital sinus

Isolated PUGS

ORPHA:647794

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

ORPHA:647772

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

ORPHA:662405

Isolated rectal duplication

ORPHA:171220