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 ×

Mixed phenotype acute leukemia

MPAL

ORPHA:530995

Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)

MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1

ORPHA:589534

Mixed phenotype acute leukemia with t(v;11q23.3)

MPAL with t(v;11q23.3); KMT2A rearranged · MPAL with t(v;11q23.3); MLL rearranged

ORPHA:589595

Mesial temporal lobe epilepsy with hippocampal sclerosis

MTLE-HS · Hippocampal sclerosis-related mesial temporal lobe epilepsy

ORPHA:99701

Microscopic polyangiitis

MPA · Micropolyangiitis

ORPHA:727

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

ORPHA:289560