| D008060 |
Lipodystrophy |
A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy. |
Lipodystrophies |
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| D008562 |
Membrane Glycoproteins |
Glycoproteins found on the membrane or surface of cells. |
Cell Surface Glycoproteins,Surface Glycoproteins,Cell Surface Glycoprotein,Membrane Glycoprotein,Surface Glycoprotein,Glycoprotein, Cell Surface,Glycoprotein, Membrane,Glycoprotein, Surface,Glycoproteins, Cell Surface,Glycoproteins, Membrane,Glycoproteins, Surface,Surface Glycoprotein, Cell,Surface Glycoproteins, Cell |
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| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D009844 |
Oligosaccharides |
Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. They are found throughout nature in both the free and bound form. |
Oligosaccharide |
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| D010009 |
Osteochondrodysplasias |
Abnormal development of cartilage and bone. |
Dyschondroplasias,Hyperostosis Corticalis Generalisata,Melnick-Needles Syndrome,Multiple Epiphyseal Dysplasia,Schwartz-Jampel Syndrome,Spondyloepiphyseal Dysplasia,Chondrodystrophic Myotonia,Dyschondroplasia,Endosteal Hyperostosis, Autosomal Recessive,Hyperphosphatasemia Tarda,Late-Onset Spondyloepiphyseal Dysplasia,Melnick-Needles Osteodysplasty,Myotonic Chondrodystrophy,Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities,Osteodysplasty of Melnick and Needles,SED Tarda,SJA Syndrome,Schwartz Jampel Aberfeld syndrome,Schwartz-Jampel Syndrome, Type 1,Schwartz-Jampel-Aberfeld Syndrome,Sost Sclerosing Bone Dysplasia,Sost-Related Sclerosing Bone Dysplasia,Spondylo-Epimetaphyseal Dysplasia With Myotonia,Spondyloepiphyseal Dysplasia Tarda, X-Linked,Spondyloepiphyseal Dysplasia, Late,Van Buchem Disease,X-Linked SED,X-Linked SEDT,X-Linked Spondyloepiphyseal Dysplasia Tarda,Chondrodystrophy, Myotonic,Dysplasia, Spondyloepiphyseal,Late Onset Spondyloepiphyseal Dysplasia,Late Spondyloepiphyseal Dysplasia,Melnick Needles Osteodysplasty,Melnick Needles Syndrome,Myotonia, Chondrodystrophic,Osteochondrodysplasia,Osteodysplasty, Melnick-Needles,SED, X-Linked,SEDT, X-Linked,Schwartz Jampel Syndrome,Schwartz Jampel Syndrome, Type 1,Spondyloepiphyseal Dysplasia Tarda, X Linked,Spondyloepiphyseal Dysplasia, Late-Onset,Syndrome, Schwartz-Jampel-Aberfeld,X Linked SED,X Linked SEDT,X Linked Spondyloepiphyseal Dysplasia Tarda |
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| D011971 |
Receptors, Immunologic |
Cell surface molecules on cells of the immune system that specifically bind surface molecules or messenger molecules and trigger changes in the behavior of cells. Although these receptors were first identified in the immune system, many have important functions elsewhere. |
Immunologic Receptors,Immunologic Receptor,Immunological Receptors,Receptor, Immunologic,Receptors, Immunological |
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| D002462 |
Cell Membrane |
The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells. |
Plasma Membrane,Cytoplasmic Membrane,Cell Membranes,Cytoplasmic Membranes,Membrane, Cell,Membrane, Cytoplasmic,Membrane, Plasma,Membranes, Cell,Membranes, Cytoplasmic,Membranes, Plasma,Plasma Membranes |
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| D004721 |
Endoplasmic Reticulum |
A system of cisternae in the CYTOPLASM of many cells. In places the endoplasmic reticulum is continuous with the plasma membrane (CELL MEMBRANE) or outer membrane of the nuclear envelope. If the outer surfaces of the endoplasmic reticulum membranes are coated with ribosomes, the endoplasmic reticulum is said to be rough-surfaced (ENDOPLASMIC RETICULUM, ROUGH); otherwise it is said to be smooth-surfaced (ENDOPLASMIC RETICULUM, SMOOTH). (King & Stansfield, A Dictionary of Genetics, 4th ed) |
Ergastoplasm,Reticulum, Endoplasmic |
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| D006031 |
Glycosylation |
The synthetic chemistry reaction or enzymatic reaction of adding carbohydrate or glycosyl groups. GLYCOSYLTRANSFERASES carry out the enzymatic glycosylation reactions. The spontaneous, non-enzymatic attachment of reducing sugars to free amino groups in proteins, lipids, or nucleic acids is called GLYCATION (see MAILLARD REACTION). |
Protein Glycosylation,Glycosylation, Protein |
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| D006056 |
Golgi Apparatus |
A stack of flattened vesicles that functions in posttranslational processing and sorting of proteins, receiving them from the rough ENDOPLASMIC RETICULUM and directing them to secretory vesicles, LYSOSOMES, or the CELL MEMBRANE. The movement of proteins takes place by transfer vesicles that bud off from the rough endoplasmic reticulum or Golgi apparatus and fuse with the Golgi, lysosomes or cell membrane. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990) |
Golgi Complex,Apparatus, Golgi,Complex, Golgi |
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