| D007668 |
Kidney |
Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. |
Kidneys |
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| D007706 |
Menkes Kinky Hair Syndrome |
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) |
Hypocupremia, Congenital,Kinky Hair Syndrome,Menkes Syndrome,Steely Hair Syndrome,Congenital Hypocupremia,Copper Transport Disease,Kinky Hair Disease,Menkea Syndrome,Menkes Disease,Menkes' Disease,Steely Hair Disease,X-Linked Copper Deficiency,Congenital Hypocupremias,Copper Deficiencies, X-Linked,Copper Deficiency, X-Linked,Copper Transport Diseases,Deficiencies, X-Linked Copper,Deficiency, X-Linked Copper,Disease, Copper Transport,Disease, Steely Hair,Diseases, Copper Transport,Diseases, Kinky Hair,Diseases, Menkes',Diseases, Steely Hair,Hair Diseases, Kinky,Hair Diseases, Steely,Hypocupremias, Congenital,Kinky Hair Diseases,Menkea Syndromes,Menkes' Diseases,Steely Hair Diseases,Steely Hair Syndromes,Syndrome, Menkea,Syndrome, Steely Hair,Syndromes, Menkea,Syndromes, Steely Hair,Transport Disease, Copper,Transport Diseases, Copper,X Linked Copper Deficiency,X-Linked Copper Deficiencies |
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| D008136 |
Longevity |
The normal length of time of an organism's life. |
Length of Life,Life Span,Lifespan,Life Spans,Lifespans |
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| D008297 |
Male |
|
Males |
|
| 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 |
|
| D003300 |
Copper |
A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. |
Copper-63,Copper 63 |
|
| D004577 |
Electron Probe Microanalysis |
Identification and measurement of ELEMENTS and their location based on the fact that X-RAYS emitted by an element excited by an electron beam have a wavelength characteristic of that element and an intensity related to its concentration. It is performed with an electron microscope fitted with an x-ray spectrometer, in scanning or transmission mode. |
Microscopy, Electron, X-Ray Microanalysis,Spectrometry, X-Ray Emission, Electron Microscopic,Spectrometry, X-Ray Emission, Electron Probe,X-Ray Emission Spectrometry, Electron Microscopic,X-Ray Emission Spectrometry, Electron Probe,X-Ray Microanalysis, Electron Microscopic,X-Ray Microanalysis, Electron Probe,Microanalysis, Electron Probe,Spectrometry, X Ray Emission, Electron Microscopic,Spectrometry, X Ray Emission, Electron Probe,X Ray Emission Spectrometry, Electron Microscopic,X Ray Emission Spectrometry, Electron Probe,X-Ray Microanalysis,Electron Probe Microanalyses,Microanalyses, Electron Probe,Microanalysis, X-Ray,Probe Microanalyses, Electron,Probe Microanalysis, Electron,X Ray Microanalysis,X Ray Microanalysis, Electron Microscopic,X Ray Microanalysis, Electron Probe |
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| D005260 |
Female |
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Females |
|
| D000073840 |
Copper-Transporting ATPases |
P-type ATPases which transport copper ions across membranes in prokaryotic and eukaryotic cells. They possess a conserved CYSTEINE-HISTIDINE-SERINE (CPx) amino acid motif within their transmembrane helices that functions in cation translocation and catalytic activation, and an N-terminal copper-binding CxxC motif that regulates enzyme activity. They play essential roles in intracellular copper homeostasis through regulating the uptake, efflux and storage of copper ions, and in cuproprotein biosynthesis. |
ATP7B Cu-Binding P Type ATPase,ATPase, Cu++ Transporting, beta Polypeptide (Wilson Disease),Copper-Transporting ATPase,Copper-Transporting ATPase 1,Copper-Transporting ATPase 2,Copper-Transporting Adenosine Triphosphatases,Cu(+)-Transporting ATPases,Cu-Transporting ATPases,Menkes Disease-Associated Protein,Pineal Night-Specific ATPase,Wilson Disease Cu-Binding P Type ATPase,ATP7A Protein,ATPase Copper Transporting alpha,Copper Pump 1,PINA Enzyme,Wilson Disease Protein,ATP7B Cu Binding P Type ATPase,ATPase 1, Copper-Transporting,ATPase 2, Copper-Transporting,ATPase, Copper-Transporting,ATPase, Pineal Night-Specific,ATPases, Copper-Transporting,ATPases, Cu-Transporting,Adenosine Triphosphatases, Copper-Transporting,Copper Transporting ATPase,Copper Transporting ATPase 1,Copper Transporting ATPase 2,Copper Transporting ATPases,Copper Transporting Adenosine Triphosphatases,Cu Transporting ATPases,Menkes Disease Associated Protein,Night-Specific ATPase, Pineal,Pineal Night Specific ATPase,Triphosphatases, Copper-Transporting Adenosine,Wilson Disease Cu Binding P Type ATPase |
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| D000251 |
Adenosine Triphosphatases |
A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA. |
ATPases,Adenosinetriphosphatase,ATPase,ATPase, DNA-Dependent,Adenosine Triphosphatase,DNA-Dependent ATPase,DNA-Dependent Adenosinetriphosphatases,ATPase, DNA Dependent,Adenosinetriphosphatases, DNA-Dependent,DNA Dependent ATPase,DNA Dependent Adenosinetriphosphatases,Triphosphatase, Adenosine |
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