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 ×

Non-syndromic intercalary limb defects

Non-syndromic intercalary meromelia

ORPHA:294927

Dentinogenesis imperfecta

DGI · DGI without OI

ORPHA:49042

Isolated biliary atresia

Non-syndromic biliary atresia · Isolated atresia of bile ducts

ORPHA:30391

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

ORPHA:1987

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

ORPHA:294973

Non-syndromic amelia

ORPHA:294925

Non-syndromic anorectal malformation

Non-syndromic ARM

ORPHA:557

Non-syndromic complete hemimelia

ORPHA:498491

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

ORPHA:649010

Non-syndromic hemimelia

Non-syndromic longitudinal meromelia

ORPHA:2130

Non-syndromic intestinal malformation

ORPHA:108967

OBSOLETE: Femoral agenesis/hypoplasia, bilateral

OBSOLETE: Femoral intercalary meromelia, bilateral

ORPHA:295067

OBSOLETE: Femoral agenesis/hypoplasia, unilateral

OBSOLETE: Femoral intercalary meromelia, unilateral

ORPHA:295065

OBSOLETE: Humeral agenesis/hypoplasia, bilateral

OBSOLETE: Humeral intercalary meromelia, bilateral

ORPHA:295063

OBSOLETE: Humeral agenesis/hypoplasia, unilateral

OBSOLETE: Humeral intercalary meromelia, unilateral

ORPHA:295061