Rare Disease Index

rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31

human disease

Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres

RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia

human disease

human disease

human disease

Human disease

Human disease

human disease

thyroid disease

human disease

human disease

human disease

anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided

human disease

hereditary sensory and autonomic neuropathy type III (HSAN-III), is a disorder of the autonomic nervous system which affects the development and survival of sensory

human disease

chromosome whose arms fused into a ring

human disease

human disease

human disease

very rare human chromosome abnormality