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 ×

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

ORPHA:178464

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

ORPHA:84132

Distal myopathy with early respiratory muscle involvement

ORPHA:34521

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Hereditary inclusion body myopathy type 4

HIBM4

ORPHA:324381

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

ORPHA:79091