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"

11 matching diseasesClear search ×

Sporadic adult-onset ataxia of unknown etiology

Idiopathic late-onset cerebellar ataxia · SAOA

ORPHA:247234

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

ORPHA:284289

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 deficiency

ORPHA:352641

Cerebellar ataxia, Cayman type

Cayman ataxia

ORPHA:94122

Immune-mediated cerebellar ataxia

IMCA · Autoimmune cerebellitis

ORPHA:623638

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

ORPHA:1186

Late-onset idiopathic chronic pancreatitis

ORPHA:700139

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

ORPHA:623626

Postinfectious cerebellitis

PIC · Para-infectious cerebellitis

ORPHA:624244

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47

ORPHA:642747

X-linked cerebellar ataxia

ORPHA:247765