Rare Disease Library

Melanoma and neural system tumor syndrome

Melanoma-astrocytoma syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Astrocytoma

Astrocytic tumor

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

CANOMAD syndrome

Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome · Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

MEND syndrome

Male EBP disorder with neurological defects

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Stromme syndrome

Jejunal atresia-microcephaly-ocular anomalies syndrome · Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome