| AHC | Albright's Hereditary Osteodystrophy |
|---|---|
| AHO | Albright's Hereditary Osteodystrophy |
| HCP | Hereditary Copro-Porphyria; À¯Àü¼º CoproPorphyria |
| HEMPAS Test | Hereditary Erythrocytic Multinuclearity with Positive Acidified Serum Test |
| HMSN | Hereditary Motor-Sensory Neuropathy |
| AHO | Albright hereditary osteodystrophy |
|---|---|
| CHED | Congenital Hereditary Endothelial Dystrophy |
| HANE | Hereditary Angio Neurotic Edema |
| HAE | Hereditary Angio-Edema |
| HCSMA | Hereditary Canine Spinal Muscular Atrophy |
| hereditary | <genetics> Transferred via genes from parent to child. (16 Dec 1997) |
|---|---|
| hereditary amyloidosis | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
| hereditary angio oedema | <biochemistry> Condition in which there seems to be uncontrolled production of C2 kinin because of a deficiency in C1 inhibitor levels. (18 Nov 1997) |
| hereditary angioedema | A genetic form of angioedema. (angioedema is also referred to as quinke's disease.) persons with it are born lacking an inhibitor protein (called c1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of c1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
| hereditary angioneurotic oedema | A genetic form of angioedema. (angioedema is also referred to as quinke's disease.) persons with it are born lacking an inhibitor protein (called c1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of c1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| hereditary areflexic dystasia | A rare autosomal dominant neurological disorder with many of the clinical features of hereditary hypertrophic sensorimotor polyneuropathy combined with an essential tremor. Synonym: hereditary areflexic dystasia. (05 Mar 2000) |
| hereditary ataxia | A simple autosomal recessive trait in fox terrier dogs that produces a progressive general ataxia. (05 Mar 2000) |
| hereditary benign intraepithelial dyskeratosis | An autosomal dominant condition consisting of white spongy lesions of the buccal mucosa, floor of the mouth, ventral lateral tongue, gingiva and palate. Transient gelatinous plaques form over the cornea, which may produce temporary blindness, hereditary benign intraepithelial dyskeratosis. Synonym: hereditary benign intraepithelial dyskeratosis. (05 Mar 2000) |
| hereditary cerebellar ataxia | A disease of later childhood and early adult life, marked by ataxic gait, hesitating and explosive speech, nystagmus, and sometimes optic neuritis. It probably comprises several distinct conditions with diverse patterns of inheritance. Collective term for a number of hereditary disorders in which cerebellar signs are the most prominent finding. (05 Mar 2000) |
| hereditary chorea | A progressive disorder usually beginning in young to middle age, consisting of a triad of choreoathetosis, dementia, and autosomal dominant inheritance with complete penetrance. Bilateral marked wasting of the putamen and the head of the caudate nucleus is characteristic. Synonym: chronic progressive chorea, degenerative chorea, hereditary chorea, Huntington's disease. (05 Mar 2000) |
| hereditary coproporphyria | <haematology> A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. Acute intermittent porphyria is a rare inherited form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differentiated measuring various blood prophyrins. Inheritance: autosomal dominant. (27 Sep 1997) |
| hereditary deafness and nephropathy | <nephrology, pathology> An inherited disorder involving damage to the kidneys, haematuria and hearing loss. In some individuals vision may also be affected. This genetic disease is uncommon. Symptoms include loss of hearing, abnormal colour to urine, swelling, cough and decline in vision. Inheritance: sex-linked autosomal dominant. Incidence: 1 in 50,000. Origin: Gr. Pathos = disease (27 Sep 1997) |
| hereditary deforming chondrodystrophy | A disturbance of enchondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the ill-effects are usually mechanical but malignant change is rare; autosomal dominant inheritance. Synonym: diaphysial aclasis, hereditary deforming chondrodystrophy, multiple exostosis, osteochondromatosis. (05 Mar 2000) |
| hereditary exostosis | <radiology> (osteochondromatosis) Autosomal dominant, M more than F, multiple exostoses, snowflake calcification of mature cartilage cap, may leading to chondrosarcoma, short metacarpals (especially 4th and 5th) (12 Dec 1998) |
| hereditary fructose intolerance | A metabolic error due to deficiency of hepatic fructose 1,6-bisphosphate aldolase B (which also acts on fructose 1-phosphate); the second enzyme in the specific fructose pathway; vomiting and hypoglycaemia follow ingestion of fructose; prolonged fructose ingestion in young children results in failure to thrive and in jaundice, hepatomegaly, albuminuria, aminoaciduria, and sometimes cachexia and death; autosomal recessive inheritance in most families. (05 Mar 2000) |
| Albright's hereditary osteodystrophy | An inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects, notably the small fourth metacarpals, but intelligence is normal. There are dominant, recessive and X-linked forms. See: pseudohypoparathyroidism. Synonym: Albright's syndrome. (05 Mar 2000) |
|---|---|
| angioedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
| angioneurotic oedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| canine hereditary blindness | An autosomal dominant condition seen in dogs of the collie and several other breeds. (05 Mar 2000) |
| colourectal neoplasms, hereditary nonpolyposis | A syndrome characterised by autosomal dominant inheritance, a low mean age (41 years) for occurrence of colon cancer, and a marked increase in the proportion of tumours in the proximal colon. (12 Dec 1998) |
| corneal dystrophies, hereditary | Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. (12 Dec 1998) |
| 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) |
| 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) |
| 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) |
| oedema, hereditary angioneurotic | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
Synonyms : Central Nervous System Demyelinating Hereditary Diseases, Central Nervous System Hereditary Demyelinating Diseases, Hereditary Demyelinating Diseases, Central Nervous System
Synonyms : Dejerine Sottas Disease, Disease, Dejerine-Sottas
Synonyms : Congenital Insensitivity to Pain with Anhidrosis, HSAN (Hereditary Sensory Autonomic Neuropathy), Hereditary Sensory Autonomic Neuropathy, Type 1, Hereditary Sensory Autonomic Neuropathy, Type 2, Hereditary Sensory Autonomic Neuropathy, Type 4, HSAN Type Is
| hereditary motor and sensory neuropathy |
Charcot-Marie-Tooth disease: a form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant
Ãâó: wordnet.princeton.edu/perl/webwn
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| hereditary |
familial: tending to occur among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" ancestral: inherited or inheritable by established rules (usually legal rules) of descent; "ancestral home"; "ancestral lore"; "hereditary monarchy"; "patrimonial estate"; "transmissible tradition"
Ãâó: wordnet.princeton.edu/perl/webwn
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| hereditary disease |
genetic disease: a disease or disorder that is inherited genetically
Ãâó: wordnet.princeton.edu/perl/webwn
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| hereditary cerebellar ataxia |
nervous disorder of late childhood and early adulthood; characterized by ataxic gait and hesitating or explosive speech and nystagmus
Ãâó: wordnet.princeton.edu/perl/webwn
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| hereditary xerocytosis |
a hereditary type of hemolytic anemia characterized by xerocytes, sometimes containing phosphatidylcholine.
Ãâó: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
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| hereditary | inherited or inheritable by established rules (usually legal rules) of descent |
|---|---|
| hereditary | tending to occur among members of a family usually by heredity |
| hereditary | nervous disorder of late childhood and early adulthood |
| hereditary | a disease or disorder that is inherited genetically |
| hereditary | a disease or disorder that is inherited genetically |
| hereditary | (genetics) attributes acquired via biological heredity from the parents |
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