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"

9 matching diseasesClear search ×

Acute myeloid leukemia with recurrent genetic anomaly

Acute myeloid leukemia · AML

ORPHA:98277

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

ORPHA:585877

Genetic cardiac anomaly

ORPHA:271853

Genetic hair anomaly

ORPHA:183450

Genetic larynx anomaly

ORPHA:435609

Genetic nail anomaly

ORPHA:183454

Genetic recurrent myoglobinuria

ORPHA:99845

Genetic tracheal anomaly

ORPHA:435612

Genetic vascular anomaly

ORPHA:211240