Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Choroidal osteoma
All ages
Choroideremia
X-linked recessive
Adolescent, Adult, Childhood
Chromomycosis
Not applicable
All ages
Chromophobe renal cell carcinoma
Adult, Elderly
Chronic Epstein-Barr virus infection syndrome
Unknown
Adolescent, Adult, Childhood
Chronic actinic dermatitis
Not applicable
Adult
Chronic atrial and intestinal dysrhythmia syndrome
Autosomal recessive
Adolescent, Adult, Childhood
Chronic beryllium disease
Not applicable
Adult
Chronic diarrhea due to glucoamylase deficiency
Childhood
Chronic diarrhea with villous atrophy
Infancy
Chronic enteropathy associated with SLCO2A1 gene
Autosomal recessive
Adolescent, Adult, Childhood
Chronic eosinophilic leukemia
Not applicable
Adolescent, Adult, Childhood
Chronic granulomatous disease
Autosomal recessive, X-linked recessive
Adolescent, Adult, Childhood, Infancy
Chronic hiccup
Not applicable
All ages
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Autosomal dominant
Infancy, Neonatal
Chronic inflammatory demyelinating polyneuropathy
Not applicable
Adolescent, Adult, Childhood, Elderly
Chronic intervillositis of unknown etiology
Adolescent, Adult
Chronic lymphoproliferative disorder of natural killer cells
Unknown
Chronic mucocutaneous candidiasis
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Chronic myeloid leukemia
Not applicable
Adolescent, Adult, Childhood, Infancy
Chronic myelomonocytic leukemia
Not applicable
Adult
Chronic myeloproliferative disease, unclassifiable
Adult
Chronic neurovisceral acid sphingomyelinase deficiency
Infancy, Neonatal
Chronic neutrophilic leukemia
Not applicable
Adult