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"

8 matching diseasesClear search ×

Dyskeratosis congenita

DC · DKC

ORPHA:1775

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Diffuse cutaneous mastocytosis

DCM · Diffuse cutaneous maculopapulous mastocytosis

ORPHA:79456

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

ORPHA:66634

Neutral lipid storage disease with ichthyosis

NLSDI · Dorfman-Chanarin syndrome

ORPHA:98907

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

Xia-Gibbs syndrome

ORPHA:412069

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

ORPHA:468684

Severe combined immunodeficiency due to DCLRE1C deficiency

SCID due to DCLRE1C deficiency · Severe combined immunodeficiency due to ARTEMIS deficiency

ORPHA:275