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 ×

Sporadic infantile bilateral striatal necrosis

Sporadic IBSN · Sporadic infantile striatonigral degeneration

ORPHA:225147

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

ORPHA:225154

Infantile bilateral striatal necrosis

IBSN · Infantile striatonigral degeneration

ORPHA:1576

Infantile cerebellar-retinal degeneration

ORPHA:313850

OBSOLETE: Infantile striatothalamic degeneration

ORPHA:1575

OBSOLETE: Infantile symmetrical thalamic degeneration

ORPHA:3311

OBSOLETE: Infantile thalamic degeneration

ORPHA:1577