Disease Index

human disease

a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification; it has been described in 6 members of a unique consanguineous family

fetal heart defect

medical condition

human disease

human disease

Human disease

medical condition

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders

embryonal cancer that is a type of germ cell tumour, located in the ovaries or testes

rhabdomyosarcoma with mesenchymally-derived malignant cells resembling the developing skeletal muscle of the embryo

human disease

muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle

acute inflammation of the brain with flu-like symptoms

neural tube defect in which the brain protrudes out of the skull

human disease

rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations

human disease

disease

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses

Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation

human disease

human disease

typhus transmitted by fleas (Xenopsylla cheopis), usually on rats

endocardium disease that is characterized by endocardium becoming massively fibrosed and thickened wih elastic tissue resulting in a restrictive cardiomyopathy.

organ system cancer located in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system