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"

13 matching diseasesClear search ×

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

ORPHA:623626

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

ORPHA:94145

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

ORPHA:284271

Autosomal recessive syndromic cerebellar ataxia

ORPHA:98099

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

ORPHA:444072

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

ORPHA:240071

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

ORPHA:1766

Hoyeraal-Hreidarsson syndrome

Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

ORPHA:3322

Pontocerebellar hypoplasia type 3

Cerebellar atrophy with progressive microcephaly · PCH3

ORPHA:97249

Progressive cerebello-cerebral atrophy

PCCA

ORPHA:247198

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

ORPHA:2715

X-linked non progressive cerebellar ataxia

ORPHA:314978

X-linked progressive cerebellar ataxia

ORPHA:1175