| APECED | autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy |
|---|---|
| ASMD | anterior segment mesenchymal dysgenesis; atonic sclerotic muscle dystrophy |
| ATD | Alzheimer-type dementia; androstatrienedione; anthropomorphic test dummy; antithyroid drug; aqueous ... |
| BDM | Becker's muscular dystrophy |
| BMD | Becker's muscular dystrophy; Boehringer Mannheim Diagnostics; bone marrow depression; bone mineral d... |
| hereditary pyropoikilocytosis | A rare recessive disorder manifested by severe haemolysis, marked poikilocytosis, and a characteristic sensitivity of the red cells to heat-induced fragmentation in vitro; apparently due to a defect in spectrin self-association. Synonym: hereditary pyropoikilocytosis. (05 Mar 2000) |
|---|---|
| hereditary sensory radicular neuropathy | Neuropathy characterised by the occurrence of severe, relapsing foot ulcerations of neuropathic origin, destruction of terminal digits of feet and hands, and a loss of sensation; autosomal dominant inheritance is associated with onset in the second decade or later. (05 Mar 2000) |
| hereditary spherocytosis | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |
| hereditary spinal ataxia | Sclerosis of the posterior and lateral columns of the spinal cord, occurring in children and marked by ataxia in the lower extremities, extending to the upper, followed by paralysis and contractures; autosomal recessive inheritance. See: spinocerebellar ataxia. Synonym: Friedreich's ataxia, heredotaxia. (05 Mar 2000) |
| hereditary syphilis | Synonym: congenital syphilis. (05 Mar 2000) |
| pseudohypertrophic muscular dystrophy | The most common childhood muscular dystrophy, with onset usually before age 6. Characterised by symmetrical weakness and wasting of first the pelvic and crural muscles and then the pectoral and proximal upper extremity muscles; pseudohypertrophy of some muscles, especially the calf; heart involvement; sometimes mild mental retardation; progressive course and early death, usually in adolescence. X-linked inheritance (affects males and transmitted by females). Synonym: childhood muscular dystrophy, Duchenne's disease, pseudohypertrophic muscular dystrophy. (05 Mar 2000) |
| hyperbilirubinaemia, hereditary | Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood. (12 Dec 1998) |
| hypertrophic dystrophy | Increase in the number of cells in a squamous epithelium. Synonym: hypertrophic dystrophy. (05 Mar 2000) |
| spastic paraplegia, hereditary | An insidiously progressive inherited disorder (probably autosomal dominant) characterised by distal limb weakness. Stiffness of the legs in walking due to the spasticity marks the onset of the disorder. Peripheral sensory neurons may be affected in the later stages of the disease. (12 Dec 1998) |
| spherocytosis, hereditary | A familial congenital haemolytic anaemia characterised by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions. (12 Dec 1998) |
| neoplastic syndromes, hereditary | The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumour tends to occur at an earlier than average age, individuals may have more than one primary tumour, the tumours may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. (12 Dec 1998) |
| nephritis, hereditary | Hereditary disease characterised initially by haematuria and slowly progressing to renal insufficiency. It is sometimes associated with perceptual deafness and/or congenital ocular defects. (12 Dec 1998) |
| neuroaxonal dystrophy | A rare disorder that begins in the second year of life and is relentlessly progressive; clinically characterised initially by walking difficulties, weakness, and areflexia, later followed by corticospinal and pseudobulbar findings, blindness, loss of pain appreciation, and mental deterioration; pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nuclei; autosomal recessive inheritance. (05 Mar 2000) |
| neuropathies, hereditary motor and sensory | A group of slowly progressive inherited disorders in which the predominant involvement is the peripheral motor neurons with lesser involvement of the peripheral sensory neurons. Neuronal degeneration and atrophy are characteristic of these disorders. Some of the associated characteristics are phytanic acid excess, optic atrophy, and retinitis pigmentosa. (12 Dec 1998) |
| neuropathies, hereditary sensory and autonomic | A group of inherited disorders in which there is selective involvement of the peripheral sensory and autonomic neurons and degeneration of fibres by axonal atrophy and degeneration. Five types of disorders have been described and classified type I through type v. (12 Dec 1998) |