Rare Disease Library

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

Alström syndrome

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

Aplasia of lacrimal and salivary glands

ALSG · Congenital absence of lacrimal puncta and salivary glands

Aneurysm of sinus of Valsalva

Sinus of Valsalva aneurysm · SOVA

Atypical progressive supranuclear palsy syndrome

Atypical PSP syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital laryngeal palsy

Congenital vocal cord paralysis

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Cylindrical spirals myopathy

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Familial congenital palsy of trochlear nerve

Familial recurrent peripheral facial palsy

Familial recurrent Bell palsy

Hereditary neuropathy with liability to pressure palsies

Current pressure-sensitive neuropathy · HNPP

Horizontal gaze palsy with progressive scoliosis

HGPPS · Progressive external ophthalmoplegia and scoliosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Microcephaly-cardiac defect-lung malsegmentation syndrome

Ellis-Yale-Winter syndrome

OBSOLETE: Trochlear nerve palsy

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Progressive supranuclear palsy

PSP syndrome

Progressive supranuclear palsy-corticobasal syndrome

PSP-CBS · PSP-corticobasal syndrome

Progressive supranuclear palsy-predominant parkinsonism syndrome

PSP-p · PSP-parkinsonism

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

PSP-AOS · PSP-PNFA

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

PSP-PAGF · PSP-pure akinesia with gait freezing

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Short fifth metacarpals-insulin resistance syndrome

Frontotemporal dementia with motor neuron disease

FTD-ALS · FTD-MND