| chromosomes, human, pair 7 | One of the seven pairs in the third group (or group c) of human chromosomes according to the current classification for humans. (12 Dec 1998) |
|---|---|
| chromosomes, human, pair 8 | One of the seven pairs in the third group (or group c) of human chromosomes according to the current classification for humans. (12 Dec 1998) |
| chromosomes, human, pair 9 | One of the seven pairs in the third group (or group c) of human chromosomes according to the current classification for humans. (12 Dec 1998) |
| phosphohexose isomerase deficiency | <enzyme> An enzyme deficiency characterised by chronic nonspherocytic haemolytic anaemia; autosomal recessive inheritance. Synonym: phosphohexose isomerase deficiency. (05 Mar 2000) |
| placental sulfatase deficiency | <enzyme> An enzyme defect in the placenta which results in failure of conversion of 16a-hydroxydehydroepiandrosterone to estriol; women with this condition rarely enter into spontaneous labour. (05 Mar 2000) |
| concentrated human red blood corpuscle | Corpuscle prepared from one or more preparations of whole human blood which are not more than 14 days old and each of which has already been directly matched with the blood of the intended recipient. (05 Mar 2000) |
| platelet storage pool deficiency | A group of disorders characterised by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5ht are normally stored. (12 Dec 1998) |
| congenital antithrombin III deficiency | Antithrombin III is a protein which stimulates the removal of blood clots in the bloodstream. Small blood clots form normally within the bloodstream, but are normally dissolved via the bodys antithrombin III. The deficiency of antithrombin III will result in an increased risk for blood clot formation causing organ damage. This is an inherited as a autosomal dominant trait. Inheritance: autosomal dominant. (27 Sep 1997) |
| multiple carboxylase deficiency | Abnormalities in carbohydrate and branched-chain amino acid catabolism that are responsive to biotin therapy. It may be due to deficiency of propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, biotinidase, or propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and pyruvate carboxylase. (12 Dec 1998) |
| multiple endocrine deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| congenital protein C or s deficiency | This inherited disorder of blood coagulation is characterised by a deficiency of vitamin K dependent plasma proteins (C and s) that are naturally occurring anticoagulants. This disorder results in an increased risk of blood clot formation within the circulatory system. (27 Sep 1997) |
| multiple glandular deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| multiple sulfatase deficiency | An inherited disorder (autosomal recessive) in which there is a failure to hydrolyze sulfatides and sulfated mucopolysaccharides; this failure leads to their accumulation in neural and extraneural tissues causing demyelination, sulfatiduria, facial and skeletal dysmorphism, etc. (05 Mar 2000) |
| muscle phosphorylase deficiency | Type V glycogen storage disease, affecting muscle, caused by deficiency of muscle phosphorylase. (05 Mar 2000) |
| polioviruses, human 1-3 | Species of enterovirus which are the causal agents of poliomyelitis in humans. Three serotypes (strains) exist: brunhilde (type 1), lansing (type 2), and leon (type 3). Transmission is by the faecal-oral route, pharyngeal secretions, or mechanical vector (flies). Both inactivated and live attenuated vaccines have proven effective in combatting the infection. (12 Dec 1998) |