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"

7 matching diseasesClear search ×

Multiple mitochondrial dysfunctions syndrome type 2

BOLA3 deficiency · MMDS2

ORPHA:401874

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

ORPHA:399096

Multiminicore myopathy

MmD · Multiminicore disease

ORPHA:598

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

ORPHA:401869

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

ORPHA:363424

Multiple mitochondrial dysfunctions syndrome type 4

MMDS4

ORPHA:457406

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

ORPHA:569274