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"

10 matching diseasesClear search ×

Pontocerebellar hypoplasia type 3

Cerebellar atrophy with progressive microcephaly · PCH3

ORPHA:97249

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

ORPHA:391376

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

ORPHA:404437

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364

Non-progressive cerebellar ataxia with intellectual disability

ORPHA:314647

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

ORPHA:623626

Progressive cerebello-cerebral atrophy

PCCA

ORPHA:247198

Progressive muscular atrophy

PMA

ORPHA:454706

X-linked non progressive cerebellar ataxia

ORPHA:314978

X-linked progressive cerebellar ataxia

ORPHA:1175