Disease Index

Human and animal disease

syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta

heart conduction disease characterized by abnormal ECG findings

amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has material basis in mutation in the MAOA gene on chromosome location Xp11

human disease

human disease

human disease

human disease

human disease

Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin

class of disease

bacterial skin infection

a variant of rare lichen planus characterized by the development of vesico-bullous lesions

autoimmune disease of skin and connective tissue characterized by large blisters

autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located in skin (the disease is associated with the amount of gluten ingested)

type of cancer

human disease

medical condition

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability

complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue

Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease

autosomal dominant cerebrovascular disorder characterized by recurrent subcortical ischemic stroke and cognitive impairment

human disease

bone inflammation disease in infants

urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux

CAKUT that has material basis in heterozygous mutation in the TBX18 gene on chromosome 6q14

synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet

Human disease

This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria