Disease Index

Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions

generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells

Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation

Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus

primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development

interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has material basis in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3

rare disease usually seen in infants

human disease

. An autosomal recessive mode of inheritance seems most likely.

human disease in which blood vessels throughout the body become inflamed

syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton

spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age

human disease

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting

genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia

human disease

human disease

human disease

corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

medical condition

inherited skin disorder