Disease Index

Charcot-Marie-Tooth disease X-linked that has material basis in loss-of-function mutation in the PRPS1 gene on chromosome Xq22

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the HARS gene on chromosome 5q31

neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm

syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina

neurological disease

syndrome characterised tongue anomalies and distal limb deficiencies.

rare autosomal recessive disorder related to lysossomal function and the CHS1 gene

Human disease

human disease

infection caused by the chikungunya virus

Human disease

human disease

childhood electroclinical syndrome characterized by the occurrence of typical absence seizures, starting between the age of four and ten years

acute lymphocytic leukemia occuring during childhood

disorder of lens

neurodevelopmental condition

human disease

hypophosphatasia that has material basis in an autosomal recessive mutation of ALPL on chromosome 1p36.12

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities

Human disease

human disease

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction

human disease

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy

human disease

medical condition

congenital disorder of respiratory system