Disease Index

human disease

neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures

Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss

human disease

human disease

This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy

medical condition

lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues

human disease

Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.

medical condition

human disease

human disease

medical condition

an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma

visible, circumscribed, chronic lesion of the skin or mucosa, either congenital or acquired

Human disease

medical condition

medical condition

macular lesion on the side of the face

human disease

Human disease

Human disease

medical condition

Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4

a Niemann-Pick disease characterized by visceral involvement only and survival into adulthood: material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4

human disease

human disease

human disease