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 ×

Autosomal dominant optic atrophy

DOA · ADOA

ORPHA:98672

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

ORPHA:1215

Congenital pseudoarthrosis of the clavicle

Congenital pseudarthrosis of the clavicle

ORPHA:66630

Congenital pseudoarthrosis of the femur

Congenital pseudarthrosis of the femur

ORPHA:295020

Congenital pseudoarthrosis of the fibula

Congenital pseudarthrosis of the fibula

ORPHA:295022

Congenital pseudoarthrosis of the radius

Congenital pseudarthrosis of the radius

ORPHA:295024

Congenital pseudoarthrosis of the tibia

Congenital pseudarthrosis of the tibia

ORPHA:295018

Congenital pseudoarthrosis of the ulna

Congenital pseudarthrosis of the ulna

ORPHA:295026

Isolated pseudoarthrosis of the limbs

Isolated congenital pseudarthrosis of the limbs · Congenital pseudoarthrosis of the limbs

ORPHA:157808

Multiple epiphyseal dysplasia and pseudoachondroplasia

ORPHA:93429

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

ORPHA:750

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

ORPHA:221120