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"

6 matching diseasesClear search ×

Acrocallosal syndrome

ACS

ORPHA:36

Apert syndrome

ACS1 · Acrocephalosyndactyly type 1

ORPHA:87

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

ORPHA:710

Saethre-Chotzen syndrome

ACS3 · Acrocephalosyndactyly type 3

ORPHA:794

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

ORPHA:84142

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

ORPHA:98