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"

18 matching diseasesClear search ×

Non-syndromic hemimelia

Non-syndromic longitudinal meromelia

ORPHA:2130

Dentinogenesis imperfecta

DGI · DGI without OI

ORPHA:49042

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

ORPHA:93323

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

ORPHA:93321

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

ORPHA:93322

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

ORPHA:93320

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 intercalary limb defects

Non-syndromic intercalary meromelia

ORPHA:294927

Non-syndromic longitudinal limb defect

ORPHA:498457

OBSOLETE: Fibular hemimelia, bilateral

OBSOLETE: Fibular longitudinal meromelia, bilateral

ORPHA:295083

OBSOLETE: Fibular hemimelia, unilateral

OBSOLETE: Fibular longitudinal meromelia, unilateral

ORPHA:295081

OBSOLETE: Tibial hemimelia, bilateral

OBSOLETE: Tibial longitudinal meromelia, bilateral

ORPHA:295079

OBSOLETE: Tibial hemimelia, unilateral

OBSOLETE: Tibial longitudinal meromelia, unilateral

ORPHA:295077

OBSOLETE: Ulnar hemimelia, bilateral

OBSOLETE: Ulnar longitudinal meromelia, bilateral

ORPHA:295073

OBSOLETE: Ulnar hemimelia, unilateral

OBSOLETE: Ulnar longitudinal meromelia, unilateral

ORPHA:295075