In the final speech of Plato's Symposium, the young, aristocratic Alcibiades accuses Socrates of being characteristically hybristu. This is a startling claim that requires explanation, in relation both to the rest of the Symposium and to Plato's broader ethical and metaphysical concerns. Previous interpretations of the meaning and purpose of Alcibiades' speech miss the main point: namely, the notion of a philosphical or Socratic hybris complements the discussion by Socrates-Diotima of the id...
Full Text Available Disobedience to civic authority, shift of perspective within friendship —that is, who was or should be friend is then regarded as enemy—, and burial issue make the tragedy Aiax an appropriate candidate for a comparison with Antigone. Indeed, a comparison between the two tragedies has been already proposed, and parallels have been usually established between Antigone and Aiax, on the one hand; Creon and the Atridae, on the other. Along the lines of a previous study of mine on Sophocles’ Antigone, the present paper aims at comparing Aiax and Antigone with reference to a specific theme and terminology, i.e. those pertaining foolishness and wisdom. Antigone and Aiax are usually associated with each other in their foolish rebellion to those who are in authority (respectively Creon and the Atridae. As argued in the previous paper, while, however, that of Antigone is foolishness only in all appearance, the foolishness of Aiax is a real, factual one bordering on hybris, which makes him a counterpart of Creon rather than of Antigone. On the other hand, the Atridae differ from Creon —rather than being his counterpart— in that they avoid acting foolishly, and falling for a mistake of judgment, i.e. for a lack of good sense, while dealing with the burial issue. Indeed, the Atridae avoid Creon’s hybris by finally respecting the «unshakable and unwritten laws of Zeus» which makes them, in some way, a counterpart of Antigone. A closer lexical analysis of the occurrences of words pertaining foolishness and wisdom —such as ἄνοια, ἄφρων/ ἀφροσύνη - σωφροσύνη, φρονεῖν - μὴ φρονεῖν, μωρία, ἀβουλία, δυσβουλία etc.— has led to these results.
Kivi, Gaily; Teesalu, Kaupo; Parik, Jüri; Kontkar, Elen; Ustav, Mart; Noodla, Liis; Ustav, Mart; Männik, Andres
The production of recombinant monoclonal antibodies in mammalian cell culture is of high priority in research and medical fields. A critical step in this process is the isolation of the antigen-binding domain sequences of antibodies possessing the desired properties. Many different techniques have been described to achieve this goal, but all have shortcomings; most techniques have problems with robustness, are time-consuming and costly, or have complications in the transfer from isolation to production phase. Here, we report a novel HybriFree technology for the development of monoclonal antibodies from different species that is robust, rapid, inexpensive and flexible and can be used for the subsequent production of antibodies in mammalian cell factories. HybriFree technology is illustrated herein via detailed examples of isolating mouse, rabbit and chicken monoclonal antibody sequences from immunized animals. Starting from crude spleen samples, antigen capturing of specific B-cells is performed initially. cDNA of antibody variable domains is amplified from the captured cells and used a source material for simple and rapid restriction/ligation free cloning of expression vector library in order to produce scFv-Fc or intact IgG antibodies. The vectors can be directly used for screening purposes as well as for the subsequent production of the developed monoclonal antibodies in mammalian cell culture. The antibodies isolated by the method have been shown to be functional in different immunoassays, including ELISA, immunofluorescence and Western blot. In addition, we demonstrate that by using a modified method including a negative selection step, we can isolate specific antibodies targeting the desired epitope and eliminate antibodies directed to undesired off-targets. HybriFree can be used for the reliable development of monoclonal antibodies and their subsequent production in mammalian cells. This simple protocol requires neither the culturing of B-cells nor single
Full Text Available Este trabajo tiene por objetivo analizar el poemario La Hybris (2007 de la escritora argentina Alicia Genovese, considerando la configuración del yo lírico y, asimismo, el tipo de política genérico-sexual que éste despliega. En este marco, es relevante revisar los sentidos que asume el juego de intertextualidad con la tragedia griega que propone el discurso del poemario. Ello se relaciona, por una parte, con la necesidad de confrontar un presente que se avizora complejo y confuso desde una tradición cultural que aporta construcciones ideológicas y sensibilidades comunitarias que pueden confrontarse con el propio contexto. Por otro lado, el juego intertextual posibilita dar sustento y legitimidad a una voz lírica que no solo expone la furia de ciertos padecimientos, sino que procura, dificultosamente, encontrar modos para que ese malestar se canalice de modo productivo.This article aims to analyze La Hybris (2009, a poetry book by the Argentine writer Alicia Genovese, considering the configuration of the lyric subject as well as the gender politics developed in the text. In this frame, it is relevant to observe the role of intertextuality, in particular, the dialogue established between the tradition of classic tragedles and the poems' discourses. The hypotesis ofthis work mantains that, referring to Greek tragedy, the poems may confront a present that is perceived both complex and confused. On the other hand, intertextuality functions as a way to give support and legitimacy to a lyric voice that not only aims to expose the fury caused by pain but also aspires to canalize her feelings productively.
Federal Laboratory Consortium — The H Reactor was the first reactor to be built at Hanford after World War II.It became operational in October of 1949, and represented the fourth nuclear reactor on...
Christensen, O. B.; Ditlevsen, Peter; Jacobsen, Karsten Wedel
A discussion of the H-H interactions in a metal is given. Based on self-consistent total-energy calculations within the local-density approximation for H2 in a homogeneous electron gas, we show that metallic electrons make the H-H interaction more repulsive than in vacuum. Using effective......-medium theory to calculate total energies we show the same tendency for the short-range part of the H-H interaction when two H atoms are squeezed into a single site in Pd or PdH. At longer range (of the order a lattice constant) there is an attractive, lattice-mediated H-H interaction. On the basis...
H. influenzae meningitis; H. flu meningitis; Haemophilus influenzae type b meningitis ... H. influenzae meningitis is caused by Haemophilus influenzae type b bacteria. This illness is not the same as the flu ( influenza ), ...
... all resembling H bonds. Non-linear H bonds due to secondary interactions. C-H stretching frequency shows blue shift. Heavy atom distances are longer than the sum of van der Waals radii. Formed a task group through IUPAC to come up with a modern definition of H bond. 15 international experts including Desiraju.
Peptic ulcer disease - H. pylori ; PUD - H. pylori ... There are several methods to test for H. pylori infection. Breath Test (Carbon Isotope-urea Breath Test, or UBT) Up to 2 weeks before the test, you need to stop taking antibiotics, ...
Dadonova, A. V.; Devdariani, A. Z.
Exchange interaction leads to the formation of gerade and ungerade states of temporary molecules (quasimolecules) formed during the H- +H slow collisions. The work deals with the radiation produced by optical transitions between those states. The main characteristics involved in the description of optical transitions in quasimolecules, i.e., energy terms, an optical dipole transition moments, have been calculated in the frame of zero-range potentials model. The main feature of calculations is that the results can be expressed analytically in closed forms via the Lambert W function.
Jaywant H Arakeri. Articles written in Resonance – Journal of Science Education. Volume 1 Issue 9 September 1996 pp 51-58 General Article. Hydrodynamic Lubrication Experiment with 'Floating' Drops · Jaywant H Arakeri K R Sreenivas · More Details Fulltext PDF. Volume 5 Issue 8 August 2000 pp 54-71 General Article.
Hägglund, Per; Finnie, Christine; Yano, Hiroyuki
, for example chloroplastic f- and m-type thioredoxins involved in regulation of the Calvin-Benson cycle. The cytosolic h-type thioredoxins act as key regulators of seed germination and are recycled by NADPH-dependent thioredoxin reductase. The present review on thioredoxin h systems in plant seeds focuses...
Home; Journals; Resonance – Journal of Science Education. H Surya Prakash Rao. Articles written in Resonance – Journal of Science Education. Volume 3 Issue 11 November 1998 pp 82-86 Feature Article. Molecule of the Month - Corannulene – A Bucky Bowl · H Surya Prakash Rao · More Details Fulltext PDF. Volume 8 ...
.... The H2 source is an existing wideband source that was developed at the AFRL. A recent AFRL requirement for a wideband impulse generator to use in materials tests has provided the need to update the H2 source for the current test requirements...
Home; Journals; Journal of Astrophysics and Astronomy. H. L. Duorah. Articles written in Journal of Astrophysics and Astronomy. Volume 30 Issue 3-4 September-December 2009 pp 165-175. Rapid Neutron Capture Process in Supernovae and Chemical Element Formation · Rulee Baruah Kalpana Duorah H. L. Duorah.
Home; Journals; Bulletin of Materials Science. H Padma Kumar. Articles written in Bulletin of Materials Science. Volume 31 Issue 5 October 2008 pp 719-722 Nanomaterials. Synthesis, characterization, sintering and dielectric properties of nanostructured perovskite-type oxide, Ba2GdSbO6 · C Vijayakumar H Padma Kumar ...
Home; Journals; Resonance – Journal of Science Education. P H Talapadtur. Articles written in Resonance – Journal of Science Education. Volume 7 Issue 5 May 2002 pp 86-90 Classroom. The Twin Prime Problem · P H Talapadtur · More Details Fulltext PDF ...
Federal Laboratory Consortium — The F/H Laboratory is the largest of the eight laboratories within the SRS Analytical Area Project with over 100,000 square feet of floor space, 20,000 square foot...
The Virginia 4-H Foundation is a portfolio of accounts within the Virginia Tech Foundation. This publication describes the portfolio in terms of finance, restrictions, fund-development, areas of emphasis, and meet times.
Protonated molecular hydrogen, H3+, is the simplest polyatomic molecule. It is the most abundantly produced interstellar molecule, next only to H2, although its steady state concentration is low because of its extremely high chemical reactivity. H3+ is a strong acid (proton donor) and initiates chains of ion-molecule reactions in interstellar space thus leading to formation of complex molecules. Here, I summarize the understandings on this fundamental species in interstellar space obtained from our infrared observations since its discovery in 1996 and discuss the recent observations and analyses of H3+ in the Central Molecular Zone near the Galatic center that led to a revelation of a vast amount of warm and diffuse gas existing in the region. PMID:16894171
Full Text Available H01620 Raynaud syndrome, including: Raynaud disease; Raynaud phenomenon Raynaud sy...[DS:H00080], rheumatoid arthritis [DS:H00630], and Sjogren's syndrome [DS:H01502]), often referred to as Raynaud phenomenon
Full Text Available We consider two classes of restricted H systems, both dealing with numbers associated to the terms of splicing operations. In one of them, these numbers indicate the age of the strings (the generation when the strings are produced, in the second one the numbers can be interpreted as valences of the strings. Restricting the splicing to strings of "a similar age", or accepting as complete splicing processes only those processes which produce strings with a null valence increase the generative power of H systems (with finite sets of rules.
The two main topics emphasized in this book, special functions and fractional calculus, are currently under fast development in theory and application to many problems in statistics, physics, and engineering, particularly in condensed matter physics, plasma physics, and astrophysics. The book begins by setting forth definitions, contours, existence conditions, and particular cases of the H-function. The authors then deal with Laplace, Fourier, Hankel, and other transforms. As these relations are explored, fractional calculus and its relations to H-functions emerge with important results on fra
état fondamental (61So) à l'état excité singulet 1P1 ou triplet 3P1 selon le processus [1-16]:. Hg(1S0) + hν (254 nm) -------------> Hg*(3P1). (1). Par collision sur l'atome de mercure excité, le silane se décompose principalement comme suit :.
The sites of nucleophilic addition to arynes as predicted here are in fair agreement with expectation and experimental findings. Volume 116 Issue 2 March 2004 pp 83-91. Molecular orbital studies on the Wagner-Meerwein migration in some acyclic pinacol-pinacolone rearrangements · Zodinpuia Pachuau R H Duncan ...
Inaba, Masanori; Quinson, Jonathan; Arenz, Matthias
to home-made catalysts does not lead to satisfying results, although reported work could be reproduced using commercial catalyst samples. It is demonstrated that the pH of the catalyst ink, which has not been addressed in previous TF-RDE studies, is an important parameter that needs to be carefully...
Another equally well known mathematician G H Hardy, the mentor of legendary Indian math~matician. Srinivasa Ramanujan, has remarked that" A mathematician's patterns, like the painter's or the poet's, must be beautiful, the ideas, like the colors or words must fit together in a harmonious way. Beauty is the first test, there.
Permanent link: http://www.ias.ac.in/article/fulltext/reso/017/02/0117-0138. Keywords. W H Carrier; rational psychrometric formulae; psychrometric chart; invention of centrifugal machine; law of dew-point depression. Author Affiliations. R V Simha1. Director Airtron Consulting Engineers Pvt Ltd, No. 502/A, Ist Main Jayanagar ...
Bakize, L.H.. Vol 76, No 1 (2013) - Articles Changamoto zinazoikabili fasihi ya watoto nchini Tanzania Abstract · Vol 78, No 1 (2015) - Articles Gender balance struggles in Tanzanian Kiswahili children's literature. Abstract. ISSN: 0023-1886. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians ...
4. 259-264 11974). INTENSIVE HOUSING AND ITS EFFECTS ON FARM ANIMALS. S.H. Baxter. The Scottish Form Buildings Investigation Unit,. Craibstone. Bucksburn, Aberdeen, Scotland lntensive animal production is not a new idea. lt is true that historically the rearing of domestic animals for food has been an extensive ...
Lunelli, Bruno; Scagnolari, Francesco
The exposition of the pervasive concept of pH, of its foundations and implementation as a meaningful quantitative measurement, in nonspecialist university texts is often not easy to follow because too many of its theoretical and operative underpinnings are neglected. To help the inquiring student we provide a concise introduction to the depth just…
Home; Fellowship. Fellow Profile. Elected: 1952 Honorary. Meyer, Prof. Kurt H. Date of birth: 29 September 1883. Date of death: 14 April 1952. YouTube; Twitter; Facebook; Blog. Academy News. IAS Logo. Theory Of Evolution. Posted on 23 January 2018. Joint Statement by the Three Science Academies of India on the ...
Full Text Available GnRH. Hypersecretion of gonadotropins are often associated with pituitary adenomas (H01102) and central precocious puberty...infertility, and loss of some male characteristics. Endocrine disease ... See also H01102 Pituitary adenomas, H00937 Precocious pub...erty, H00255 Hypogonadotropic hypogonadism, and H01700 Hypopituitarism. ICD-10: E23
Kjær Minke, Linda; Birkmose, Sofie Meldal
Som led i Kriminalforsorgens flerårsaftale 2013-2016 blev det åbne statsfængsel Søbysøgård i januar 2015 udvidet med 42 lukkede pladser i den nybyggede afdeling H. Nærværende evaluering kortlægger de erfaringer personalet og indsatte har gjort sig i løbet af det første år. Etableringen af den...... lukkede fængselsafdeling H giver en unik mulighed for at følge henholdsvis hvilke faktorer, der bidrager til udvikling af fængselskultur, og hvordan de respektive faktorer influerer på udvikling af fængselskulturen. Evalueringens metoder består af kvalitative og kvantitative metoder såsom dokumentanalyse...
Full Text Available H00596 Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); H...ereditary inclusion body myopathy (hIBM) Nonaka distal myopathy, also known as distal myopathy with rimmed v
Full Text Available cts [DS:H00525]; Glutaric acidemia [DS:H00178]; Lysinuric protein intolerance [DS:H00899]; Pyruvate carboxyl...aired by substrate deficiencies assumed cause in various disorders including lysinuric protein intolerance,
Osaka lähedal asuvast keskkonnaõppe külastuskeskusest Bubbletecture H. Arhitekt Shuhei Endo. Hoone programm nägi ette kolm peamist ruumidegruppi: auditoorium, raamatukogu-inforuum ning töötubade ala. Hoone koosneb kolmest omavahel seotud sfäärist, välismuljet kujundavad jaapani seedrist puitosad ja terasplaadid, siseskelett on puidust. Interjööris on keskne roll valgusel. Joon.: asendiplaan, 6 vaadet, värv. fotod: 8 vaadet
'H2@Scale' is a concept based on the opportunity for hydrogen to act as an intermediate between energy sources and uses. Hydrogen has the potential to be used like the primary intermediate in use today, electricity, because it too is fungible. This presentation summarizes the H2@Scale analysis efforts performed during the first third of 2017. Results of technical potential uses and supply options are summarized and show that the technical potential demand for hydrogen is 60 million metric tons per year and that the U.S. has sufficient domestic resources to meet that demand. A high level infrastructure analysis is also presented that shows an 85% increase in energy on the grid if all hydrogen is produced from grid electricity. However, a preliminary spatial assessment shows that supply is sufficient in most counties across the U.S. The presentation also shows plans for analysis of the economic potential for the H2@Scale concept. Those plans involve developing supply and demand curves for potential hydrogen generation options and as compared to other options for use of that hydrogen.
A classical model for the interaction of laser radiation with a molecular system is derived. This model is used to study the enhancement of a chemical reaction via a collision induced absorption. It was found that an infrared laser will in general enhance the rate of a chemical reaction, even if the reactants are infrared inactive. Results for an illustrative analytically solvable model are presented, as well as results from classical trajectory studies on a number of systems. The collision induced absorption spectrum in these systems can be written as the Fourier transform of a particular dipole correlation function. This is used to obtain the collision induced absorption spectrum for a state-selected, mono-energetic reactive collision system. Examples treated are a one-dimensional barrier problem, reactive and nonreactive collisions of H + H/sub 2/, and a modified H + H/sub 2/ potential energy surface which leads to a collision intermediate. An extension of the classical model to treat laser-induced electronically nonadiabatic collision processes is constructed. The model treats all degrees of freedom, molecular, electronic and radiation, in a dynamically consistent framework within classical mechanics. Application is made to several systems. Several interesting phenomena are discovered including a Franck-Condon-like effect causing maxima in the reaction probability at energies much below the classical threshold, laser de-enhancement of chemical reactions and an isotope effect. In order to assess the validity of the classical model for electronically nonadiabatic process (without a laser field), a model problem involving energy transfer in a collinear atom-diatom system is studied, and the results compared to the available quantum mechanical calculation. The calculations are in qualitative agreement.
AFRL-DE-TR-2002-1033 AFRL-DE-TR- 2002-1033 H2 RECONSTITUTION Mike Skipper et al. ASR Corporation 7817 Bursera NW Albuquerque, NM 87120 February 2002...PERFORMING ORGANIZATION REPORT NUMBER ASR Corporation 7817 Bursera NW Albuquerque, NM 87120 DC-TR-0328.008-1 9. SPONSORING / MONITORING AGENCY NAME...Albuquerque, NM 87110 1 cy ASR Corporation 7817 Bursera NW Albuquerque, NM 87120 1 cy Jeff Berger AFRL/DEHP Kirtland AFB, NM 87117 1 cy Tyrone Tran AFRL/DEHP Kirtland AFB, NM 87117 1 cy 40
Duplantier, Bertrand; Rivasseau, Vincent
This volume provides a detailed description of the seminal theoretical construction in 1964, independently by Robert Brout and Francois Englert, and by Peter W. Higgs, of a mechanism for short-range fundamental interactions, now called the Brout-Englert-Higgs (BEH) mechanism. It accounts for the non-zero mass of elementary particles and predicts the existence of a new particle - an elementary massive scalar boson. In addition to this the book describes the experimental discovery of this fundamental missing element in the Standard Model of particle physics. The H Boson, also called the Higgs Boson, was produced and detected in the Large Hadron Collider (LHC) of CERN near Geneva by two large experimental collaborations, ATLAS and CMS, which announced its discovery on the 4th of July 2012. This new volume of the Poincaré Seminar Series, The H Boson, corresponds to the nineteenth seminar, held on November 29, 2014, at Institut Henri Po incaré in Paris.
Full Text Available H00422 Glycoproteinoses, including: Sialidosis/ Mucolipidosis I [DS:H00142]; Galact...ia (AGU) [DS:H00145]; Fucosidosis [DS:H00141]; Schindler/ Kanzaki disease [DS:H00146] Glycoproteinoses is a ...group of autosomal recessive lysosomal storage diseases caused by deficient activ... in the accumulation of undegraded oligosaccharides in lysosomes. Glycoproteinose...s share many clinical features such as mental retardation, coarse facies, and dysostosis multiplex. Cathepsin A-deficiency cause
Full Text Available H01616 Spinocerebellar degeneration, including: Spinocerebellar ataxia (SCA) [DS:H...00063]; Dentatorubropallidoluysian atrophy (DRPLA) [DS:H00060]; Friedreich ataxia [DS:H00067]; Multiple syst...reditary spinocerebellar degeneration includes spinocerebellar ataxia (SCA), dentatorubral-pallidoluysian at...rophy (DRPLA), and Friedreich ataxia (FA). Neurodegenerative disease ... Taltirelin [DR:D01925] See also H00063 Spinocerebellar atax...lum, brain stem, spinal cord, and basal ganglia to various degrees. Patients display limb and truncal atax
Full Text Available hromatic leukodystrophy [DS:H00127]. Defects in PSAP saposin-C region are the cause of atypical... Gaucher disease [DS:H00126]. Defects in PSAP saposin-A region are the cause of atypical Krabb
Full Text Available H01239 Combined SAP deficiency; Prosaposin deficiency Combined SAP deficiency is a...tte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA ... TITLE ... Combined saposin C and D deficiencies
Full Text Available H, Tanizaki H, Heike T, Miyachi Y, Nakahata T Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum 60:242-50 (2009) ...
Full Text Available H01272 Hypoplastic left heart syndrome (HLHS) Hypoplastic left heart syndrome (HLHS... aortic valve. [DS:H00554] ICD-10: Q23.4 OMIM: 241550 614435 PMID:19298922 Grossfeld P, Ye M, Harvey R Hypoplastic
Full Text Available deficiency (MT-C4D); Fatal infantile cardioencephalomyopathy (CEMCOX) [DS:H01200]; Leigh syndrome (LS) [DS:H...er of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and
Full Text Available eficiency (MT-C4D); Fatal infantile cardioencephalomyopathy (CEMCOX) [DS:H01200]; Leigh syndrome (LS) [DS:H0...r of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and L
Full Text Available H01063 Human metapneumovirus infection Human metapneumovirus (hMPV) is an emerging ...v_factor) Kahn JS Human metapneumovirus: a newly emerging respiratory pathogen. Curr Opin Infect Dis 16:255-8 (2003) ...
Full Text Available 533]; Western equine encephalitis [DS:H01534]; Eastern equine encephalitis [DS:H01535]; Australian encephali...Valley encephalitis virus [GN:T40055] (Murray Valley encephalitis / Australian encephalitis) La Crosse virus
Full Text Available Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abbou...sio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C,
Full Text Available ysgenesis; Aniridia; Axenfeld-Rieger syndrome (ARS); Peters anomaly; Iridogoniodysgenesis (IRID) Anterior se...3] [KO:K13675] Aniridia, ARS, and Peters anomaly are also described in H00635, H0
Full Text Available keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia...ne produce various phenotypes, including aniridia [DS:H00635], Peters anomaly [DS:H01075], foveal hypoplasia
Full Text Available H00518 RMRP related disorders, including: Anauxetic dysplasia (AD) [DS:H01967]; Cartilage-hair hypoplasia...rited developmental disorder, cartilage-hair hypoplasia (CHH). CHH is a skeletal dysplasia inherited as an a
Full Text Available H01705 Bilateral sudden sensorineural hearing loss Bilateral sudden sensorineural hearing...and is associated with a more severe degree of hearing loss, poorer prognosis fol...:K14020] ... See also H01704 Sudden sensorineural hearing loss, H00604 Deafness, autosomal dominant, and H0... TITLE ... Bilateral sudden sensorineural hearing loss: review. ... JOURNAL ... J Laryngol Otol 128 Suppl 1:S8-1
Full Text Available H00053 Extraskeletal myxoid chondrosarcoma Extraskeletal myxoid chondrosarcoma (EM...459] Imatinib [DG:DG00710] Sunitinib [DG:DG00712] ICD-O: 9231/3, Tumor type: Extraskeletal myxoid chondrosarcoma...da T, Yoshikawa H, Hasegawa T ... TITLE ... Extraskeletal myxoid chondrosarcoma: a Multi-Institutional Study o...aoka M, Ishida T, Imamura T, Kanda H, Shimajiri S, Hashimoto H. ... TITLE ... Extraskeletal myxoid chondrosarcoma
Full Text Available H00615 Amelogenesis imperfecta Amelogenesis imperfecta represents a heterogeneous ...111] [KO:K08408] (AI3) FAM83H [HSA:286077] ... See also H00618 Amelogenesis imperfecta hypoplastic-hypomatu...MID:3150442 (description) ... AUTHORS ... Witkop CJ Jr ... TITLE ... Amelogenesis imperfecta, dentinogenesis imp...FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. ... JOURNAL ... Am J...l AJ ... TITLE ... Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. ... JOURNAL ... Hum
Full Text Available ... Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Mats...uoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosa
Full Text Available H01201 Jensen syndrome; Opticoacoustic nerve atrophy Jensen syndrome is X-linked de...is also caused by defects in TIMM8A. ICD-10: H47.2 H90.3 MeSH: C537568 OMIM: 311150 PMID:11803487 Tranebjaerg L, Jensen
Weusten, B. L.; Roelofs, J. M.; Akkermans, L. M.; vanBerge-Henegouwen, G. P.; Smout, A. J.
In 24 h oesophageal pH monitoring, pH 4 is widely but arbitrarily used as the threshold between reflux and non-reflux pH values. The aim of the study was to define pH thresholds objectively, based on Gaussian curve fitting of pH frequency distributions. Single-channel 24 h oesophageal pH monitoring
available on the Bulletin of Materials Science website. (www.ias.ac.in/matersci). References. An H Y, Guo Y Q, Li Y G, Xu L and Hu C G 2004 Inorg. Chem. Commun. 7 521. An H Y, Li Y G, Wang E, Sun C Y and Xu L 2005a J. Mol. Struct. 743 117. An H Y, Li Y G, Wang E B, Xiao D R, Sun C Y and Xu L. 2005b Inorg. Chem.
Full Text Available H00810 Progressive myoclonic epilepsy (PME/ EPM), including: Lafora disease (LBD) ...isease (GD) [DS:H00126]; Myoclonic epilepsy with ragged-red fibers [DS:H01356] Progressive myoclonic epile...with ever-worsening and soon-intractable myoclonus and epilepsy, usually associat...rs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red f...UTHORS ... Satishchandra P, Sinha S ... TITLE ... Progressive myoclonic epilepsy. ... JOURNAL ... Neurol India 58:51
Full Text Available H00783 Febrile seizures, including: Febrile convulsions; Generalized epilepsy with... febrile seizure plus (GEFS+); Dravet syndrome/ Severe myoclonic epilepsy in infancy [DS:H01818] Febrile sei... represent the most common form of childhood seizures. Generalized epilepsy with ...febrile seizures plus (GEFS+) is a familial epilepsy syndrome with a spectrum of phenotypes including FS. Severe epilepsy...Weber YG, Lerche H ... TITLE ... Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy
MacArthur, Stacey; Nelson, Cindy; Brower, Naomi; Memmott, Margie; Peterson, Gaelynn
Obstacles facing new 4-H volunteers include time constraints and difficulty finding project-specific information, resources, and opportunities available for club members. As a solution to these obstacles and an aid for assisting volunteers in becoming confident in delivering information to youth, content experts produced Discover 4-H Clubs, a…
Université Paris VI, Equipe d'Analyse, Case 186, 75252 Paris Cedex 05, France. Abstract. We review the existing proofs that the min and max norms are different on. B(H) ⊗ B(H) and give a shortcut avoiding the consideration of non-separable families of operator spaces. Keywords. C∗-algebra; C∗-tensor products; ...
Full Text Available H00982 Sideroblastic anemia, including: Pyridoxine-refractory autosomal recessive sideroblastic anemia... (PRARSA); X-linked sideroblastic anemia (XLSA); X-linked sideroblastic anemia with ataxi...a (ASAT) Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring s...ideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and hete...H00898. [DS:H00898] ICD-10: D64.0 D64.3 OMIM: 205950 300751 301310 PMID:20848343 Harigae H, Furuyama K Hereditary sideroblastic anemi
Full Text Available H00582 Benign familial hematuria; Thin basement membrane nephropathy Benign familial hematuria... is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in ch
Full Text Available V, Hovhannisyan H, Majzoub J, Miller DT. Genetic diagnosis of primary immune deficiencies. Immunol Allerg...ieties Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin
Full Text Available H00962 RIDDLE syndrome RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficu...lties) syndrome is an immunodeficiency disorder that primarily manifests as an immu
Full Text Available H01748 Autoinflammation with infantile enterocolitis (AIFEC) Autoinflammation with infantile enterocolitis... (AIFEC) is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis
Full Text Available H00799 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma sy...ndrome; CEDNIK syndrome CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a r
Full Text Available H00962 RIDDLE syndrome RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning diffic...ulties) syndrome is an immunodeficiency disorder that primarily manifests as an imm
Full Text Available H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodefici...e X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficien
Full Text Available linating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase ...H00127 Metachromatic leukodystrophy (MLD) Metachromatic leukodystrophy (MLD) is an autosomal recessive demye
Full Text Available entation characterized by a triad of reticulate hyperpigmentation, nonscarring alop... H00796 Dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis is a rare disorder of pigm
Full Text Available H01679 Intrahepatic lithiasis; Intrahepatic calculosis; Hepatolithiasis Intrahepatic lithiasis...hang M, Xie HY, Zhou L, Zheng SS ... TITLE ... Management hepatolithiasis with operative choledochoscopic FRED
Full Text Available H00215 Periodic paralysis, including: ; Hyperkalemic periodic paralysis (HyperPP) [...DS:H00745]; Hypokalemic periodic paralysis (HypoPP) [DS:H00746]; Andersen-Tawil syndrome (ATS) [DS:H00748] T...include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis...Meola G, Links TP, Panzeri M, Rose MR Treatment for periodic paralysis. Cochrane Database Syst Rev CD005045 ...8-17 (2006) PMID:20634695 Raja Rayan DL, Hanna MG Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol 23:466-76 (2010) ...
Full Text Available ntation characterized by a triad of reticulate hyperpigmentation, nonscarring alope...H00796 Dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis is a rare disorder of pigme
Full Text Available H00076 Cockayne syndrome Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive... multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary
Full Text Available H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficie... X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficienc
Partridge, Harry; Bauschlicher, Charles W., Jr.; Stallcop, James R.; Levin, Eugene
Ab initio calculations employing large basis sets are performed to determine an accurate potential energy surface for H-H2 interactions for a broad range of separation distances. At large distances, the spherically averaged potential determined from the calculated energies agrees well with the corresponding results determined from dispersion coefficients; the van der Waals well depth is predicted to be 75 +/- (mu)E(sub h). Large basis sets have also been applied to reexamine the accuracy of theoretical repulsive potential energy surfaces. Multipolar expansions of the computed H-H2 potential energy surface are reported for four internuclear separation distances (1.2, 1.401, 1.449, and 1.7a(sub 0) of the hydrogen molecule. The differential elastic scattering cross section calculated from the present results is compared with the measurements from a crossed beam experiment.
Wade, Laurie; Bielory, Leonard; Rudner, Shara
Antihistamines exert pharmacologic effects by binding to four histamine receptors (H1-H4) at different affinities, producing variable effects depending on the receptor they predominantly bind to. This review's purpose is to determine the relative potency of antihistamines by comparing their binding affinities to these receptors. Studies on binding affinities of antihistamines to histamine receptors were reviewed and the dissociation constant for inhibitor binding (Ki) analyzed to determine the most and least potent antihistamine for each receptor. We retrieved the binding affinities for nineteen antihistamines. For H1 receptors, pyrilamine exhibited the highest affinity (Ki = 0.8 nM), and thioperamide the lowest (Ki = 280, 000 nM). For H2 receptors, ranitidine exhibited the highest affinity (Ki = 187 nM), and olopatadine the lowest (Ki = 100 ,000 nM). For the recently discovered H3 and H4 receptors, thioperamide exhibited the highest affinity (Ki = 1.1 nM), and olopatadine exhibited the lowest (Ki = 79 ,400 nM), to H3. Data on binding affinities to the H4 receptor exist for: ketotifen, pheniramine, ranitidine, cimetidine and thioperamide. Of these, thioperamide exhibited the highest affinity (Ki = 27 nM), whereas cimetidine and ranitidine exhibited the lowest affinity (Ki = >10, 000 nM) for H4 receptors. This review summarizes the relative potency of antihistamines based on their binding affinities to the four histamine receptors. Although data on binding affinities of antihistamines to the H4 receptor are sparse, it is apparent that further research on these histamine subtypes may open new venues for more direct treatment with a higher therapeutic efficacy on allergic disorders including those affecting the ocular surface.
Full Text Available H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial h...yperostosis Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia...atic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Am J Hum Genet 84:412-7 (2009) ...
Full Text Available H01427 Mitochondrial diseases Mitochondrial diseases are clinically heterogeneous group of disorders... of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect...to one particular category. For example, mutations in POLG are associated with a variety of phenotypes. (see H01395 POLG related diso...rders) Inherited metabolic disease; Mitochondrial diseas
Full Text Available :7267960 (description) Schmidt U, Chmel H, Kaminski Z, Sen P The clinical spectrum of Campylobacter fetus in...980) PMID:9310640 Jousimies-Somer H Recently described clinically important anaerobic bacteria: taxonomic aspects and update. Clin Infect Dis 25 Suppl 2:S78-87 (1997) ...
Full Text Available 273 ... AUTHORS ... Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, ...Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shinta
Full Text Available d that a homozygous mutation in SPATA16 was associated with male infertility in h...uman globozoospermia. It has also been reported that a recurrent deletion of DPY19L2 causes infertility in m...hoven H, Viville S ... TITLE ... Homozygous mutation in SPATA16 is associated with male infertility in human g
Abstract. Computational study of ethanol complexes with H2O, H2S and HF molecules has been carried out using a MP2 level of theory. Carbon bonding and hydrogen bonding interactions have been analyzed in this study for all the complexes. The interaction between the carbon atom of CH2 group of ethanol and ...
Full Text Available H01220 Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) Congenital cataract...P1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dys... (description, gene) ... AUTHORS ... Tzifi F, Pons R, Athanassaki C, Poulou M, Kanavakis E ... TITLE ... Congenital cataract...habo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA ... TITLE ... Congenital cataract
Full Text Available H01466 Ulcerative colitis (UC) Ulcerative colitis (UC) is one subtype of inflammat...sion and activation of IL-12-induced Stat4 signaling in the mucosa of ulcerative colitis patients. ... JOURNAL...Y, Ogino H ... TITLE ... Promising biological therapies for ulcerative colitis: A review of the literature. ...
Michalak, Magdalena; Kurel, Malgorzata; Jedraszko, Justyna; Toczydlowska, Diana; Wittstock, Gunther; Opallo, Marcin; Nogala, Wojciech
Nanoscale pH evaluation is a prerequisite for understanding the processes and phenomena occurring at solid-liquid, liquid-liquid, and liquid-gas interfaces, e.g., heterogeneous catalysis, extraction, partitioning, and corrosion. Research on the homogeneous processes within small volumes such as intracellular fluids, microdroplets, and microfluidic chips also requires nanometer scale pH assessment. Due to the opacity of numerous systems, optical methods are useless and, if applicable, require addition of a pH-sensitive dye. Potentiometric probes suffer from many drawbacks such as potential drift and lack of selectivity. Here, we present a voltammetric nanosensor for reliable pH assessment between pH 2 and 12 with high spatial resolution. It consists of a pyrolytic carbon nanoelectrode obtained by chemical vapor deposition (CVD) inside a quartz nanopipette. The carbon is modified by adsorption of syringaldazine from its ethanolic solution. It exhibits a stable quasi-reversible cyclic voltammogram with nearly Nernstian dependency of midpeak potentials (-54 mV/pH). This sensor was applied as a probe for scanning electrochemical microscopy (SECM) in order to map pH over a platinum ultramicroelectrode (UME), generating hydroxide ions (OH(-)) by the oxygen reduction reaction (ORR) at a diffusion-controlled rate in aerated phosphate buffered saline (PBS). The results reveal the alkalization of the electrolyte close to the oxygen reducing electrode, showing the insufficient buffer capacity of PBS to maintain a stable pH at the given conditions.
Full Text Available H01036 Posterior column ataxia with retinitis pigmentosa (PCARP) Posterior column ataxia...r characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mut... Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S Posterior column ataxia
Full Text Available H00752 Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-H...odgkin syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells ...syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme adnatum and cleft
Full Text Available H00399 Avian influenza; Bird flu; H5N1 flu Influenza A virus exhibits the broad host spectrum (bird...s, humans, other mammals) and viruses that have been isolated from birds are termed avian i...nfluenza viruses. Avian influenza viruses can cross the species barrier into humans via direct contact with infected bird
Full Text Available H00094 Immunodeficiency associated with DNA repair defects, including the following six diseases: Ataxia... telangiectasia (AT) [DS:H00064]; Ataxia-talangiectasia-like syndrome; Nijmegen syndro...ll autosomal recessive, show an increased tendency for chromosomal aberrations and to develop malignancies. Ataxia
Full Text Available H01377 Mitchell-Riley syndrome Mitchell-Riley syndrome is a neonatal diabetes synd...rome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are ty...aniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA ... TITLE ... Neonatal diabetes, gallbladder
Full Text Available H00062 Spinal and bulbar muscular atrophy (SBMA); Kennedy's disease Spinal and bulb...:898-910 (2009) PMID:18775514 Jordan CL, Lieberman AP Spinal and bulbar muscular ...t Med 13:348-53 (2007) PMID:15133611 Katsuno M, Adachi H, Tanaka F, Sobue G Spinal
Full Text Available H00531 Venous malformations, including: Sporadic venous malformation; Cutaneomucosal...h congenital blue-colored birthmarks resulted from dilated veins. Birthmarks in cutaneomucosal venous malfor...sorder; Vascular disease (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121] (
Full Text Available H00332 Listeriosis Listeriosis is a severe foodborne infection with high case fata...LE ... Listeria monocytogenes: food-borne pathogen and hygiene indicator. ... JOURN...u H, Schlundt J ... TITLE ... Quantitative risk assessment of Listeria monocytogenes in ready-to-eat foods: th
Full Text Available ar of life. The rash starts from the limbs and spreads to the trunk and the face, evolving into poikiloderma...ropenia. Skin and connective tissue disease C16orf57 [HSA:79650] Dyskeratosis congenita (H00507) and Rothmun...d-Thomson syndrome (H00296) display clinical overlap with this disease. MeSH: C565820 OMIM: 604173 PMID:2196
Full Text Available H00713 Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome (BWS) is an imprinting...parated into two domains, with each domain regulated by a functionally independent imprinting control region...methylation of the H19 promoter and loss of imprinting of IGF2 have been reported
Full Text Available f gas in the affected tissue and is associated with trauma. Infectious disease Clostridium perfringens [GN:c...675 (description) Sasaki T, Nanjo H, Takahashi M, Sugiyama T, Ono I, Masuda H Non-traumatic gas gangrene in the abdomen: report of six autopsy cases. J Gastroenterol 35:382-90 (2000) ...
Full Text Available ]; Becker muscular dystrophy (BMD) [DS:H01964]; X-linked dilated cardiomyopathy (XLCM) [DS:H00294] Duchenne ... a better prognosis, with a mean age of onset at 11 years. X-linked dilated cardiomyopathy (XLCM) is a rare ...disorder with rapidly progressive cardiomyopathy but almost no skeletal muscle impairment. Absence of the dy
Full Text Available [HSA:4485] IRGM (polymorphism) [HSA:345611] [KO:K14139] ... Ulcerative colitisis: Superficial inflammation o...f the colonic mucosa, beginning in the rectum and extending proximally ... Crohn's disease is described in H00286. [DS:H00286] Ulcer
Full Text Available H00128 Mucopolysaccharidosis type I (MPS1); Hurler-Scheie syndrome (MPS1HS); Hurler syndrome (MPS1...H); Scheie syndrome (MPS1S) Mucopolysaccharidosis type I is an autosomal recessive lysosomal ...e disease hsa00531(3425) Glycosaminoglycan degradation hsa04142(3425) Lysosome (MPS1) IDUA; alpha-L-iduronid
Popa, M.E.; Segers, A.J.; Denier van der Gon, H.A.C.; Krol, M.C.; Visschedijk, A.J.H.; Schaap, M.; Röckmann, T.
Hydrogen (H2) is being explored as a fuel for passenger vehicles; it can be used in fuel cells to power electric motors or burned in internal combustion engines. In order to evaluate the potential influence of a future H2-based road transportation on the regional air quality in Europe, we
Popa, M.E.; Segers, A.J.; Denier van der Gon, H.A.C.; Krol, M.C.; Visschedijk, A.J.H.; Schaap, M.; Röckmann, T.
Hydrogen (H2) is being explored as a fuel for passenger vehicles; it can be used in fuel cells to power electric motors or burned in internal combustion engines. In order to evaluate the potential influence of a future H2-based road transportation on the regional air quality
Full Text Available arletta F, Contreras C, Mercado E New insights into the epidemiology of enteropat... O127:H6 [GN:ecg] Escherichia coli O55:H7 [GN:eok elr] ICD-10: A04.0 MeSH: D004927 PMID:18455741 Ochoa TJ, B
Full Text Available H00399 Avian influenza; Bird flu; H5N1 flu Influenza A virus exhibits the broad host spectrum (birds, humans...fluenza viruses. Avian influenza viruses can cross the species barrier into humans via direct contact with i
De Farias D. P.
Full Text Available This paper addresses the design of full order linear dynamic output feedback controllers for flexible structures. Unstructured H ∞ uncertainty models are introduced for systems in modal coordinates and in reduced order form. Then a controller is designed in order to minimize a given H 2 performance function while keeping the maximum supported H ∞ perturbation below some appropriate level. To solve this problem we develop an algorithm able to provide local optimal solutions to optimization problems with convex constraints and non-convex but differentiable objective functions. A controller design procedure based on a trade-off curve is proposed and a simple example is solved, providing a comparison between the proposed method and the usual minimization of an upper bound H 2 to the norm. The method is applied to two different flexible structure theoretical models and the properties of the resulting controllers are shown in several simulations.
Selected Acquisition Report (SAR) RCS: DD-A&T(Q&A)823-101 H-1 Upgrades (4BW/4BN) (H-1 Upgrades) As of FY 2017 President’s Budget Defense...5 Mission and Description 6 Executive Summary 7 Threshold Breaches 8 Schedule 9 Performance 11 Track to Budget 16 Cost and...Funding 17 Low Rate Initial Production 26 Foreign Military Sales 27 Nuclear Costs 27 Unit Cost 28 Cost Variance 31 Contracts
Full Text Available H00998 Alternating hemiplegia of childhood Alternating hemiplegia of childhood (AC...ic migraine (H00775) and alternating hemiplegia of childhood (AHC) share some cli...icardi J, Goutieres F ... TITLE ... Alternating hemiplegia of childhood. ... JOURNAL ... J Pediatr 122:673-9 (1993... ... A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. ... JOURNAL ... J Med Genet 4...r H, Haan J, Haas JP, Terwindt GM, Ferrari MD ... TITLE ... CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia
Full Text Available H01863 Atopic myelitis; Eosinophilic myelitis Atopic myelitis, also described as i...tepwise progression of mostly the sensory symptoms. Atopic myelitis is often with coexistent atopic diseases, such as atopic...ificantly increased in patients with atopic myelitis. Upregulation of CCL11 and IL-9 explain quite well the ...ids, intravenous immunoglobulin (IVIG), and plasma exchanges (PE), are effective in atopic...um IgE level Corticosteroids Immunoglobulin (IVIG) Plasma exchanges (PE) See also H00079 Asthma and H01358 Atopic
Full Text Available H00981 Ataxia with isolated vitamin E deficiency (AVED); Friedreich-like ataxia At...d by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral neuropa...thy that resembles Friedreich ataxia. AVED patients have markedly reduced plasma ...:D02331] Vitamin E [DR:D02331] Friedreich ataxia is described in H00067. [DS:H00067] ICD-10: E56.0 G11.1 MeS...istiani E, Fiocchi I, Montaldi L, Grosso P, Gellera C ... TITLE ... Efficacious vitamin E treatment in a child with ataxia
Full Text Available H00511 Short rib-polydactyly syndrome Short-rib polydactyly (SRP) syndromes are mos.... The fetus with SRP develops polydactyly, shortened tubular bones, and other malformations such as cleft li... due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Gene...errer M, Munnich A, Cormier-Daire V DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly...mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet 88:106-14 (2011) ...
Full Text Available H00694 Dent disease, including: Dent disease 1; Dent disease 2; X-linked recessive ...nephrolithiasis ; Hypophosphatemic rickets; Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Dent disea...s, nephrocalcinosis, and progressive renal failure. The disease is caused by mutations in either the CLCN5 o...re also associated with Lowe Syndrome. Urinary system disease hsa00562(4952) Inositol phosphate metabolism h...H: D057973 OMIM: 300009 300555 310468 300554 308990 300009 PMID:20946626 Devuyst O, Thakker RV Dent's disease. Orphanet J Rare Dis 5:28 (2010) ...
Full Text Available H00933 Hereditary pancreatitis; Hereditary chronic pancreatitis Hereditary pancreat...itis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with ... Rosendahl J, Bodeker H, Mossner J, Teich N Hereditary chronic pancreatitis. Orphanet J Rare Dis 2:1 (2007) ...PMID:17238030 (description, gene) Naruse S, Fujiki K, Ishiguro H Is genetic analysis helpful for diagnosing chronic...ckel R, Ferec C A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancrea
Full Text Available H01205 Coumarin resistance; Warfarin resistance Warfarin is widely prescribed anticoagulant for the prevent...ion of thromboembolic diseases. However, its use is made difficult by the wide inte
Full Text Available H01683 Disorders of antidiuretic hormone (ADH) secretion Water imbalance is common...ous pathologic and iatrogenic causes for water imbalance, the most troublesome being disorders of antidiuret
Full Text Available NOBOX [HSA:135935] ... Autoimmune diseases Radiation Chemotherapy (alkylating agents) Surgery Mumps infection Galactosemia ... For galact...osemia, see H00070. ICD-10: E28.3 MeSH: D016649 OMIM: 311360 300510 300604 612964 6
Full Text Available H00506 Osteogenesis imperfecta Osteogenesis imperfecta is characterized by an inherited bone fragility...TITLE ... Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafi
Full Text Available H00184 Hypermethioninemia, including: Methionine adenosyltransferase deficiency; S...-adenosylhomocysteine hydrolase deficiency; Adenosine kinase deficiency Hypermethioninemia is an inborn erro...ORS ... Mudd SH ... TITLE ... Hypermethioninemias of genetic and non-genetic origin:
Full Text Available H00031 Breast cancer Breast cancer remains the most common malignancy in women worl...D:17135036 (carcinogen) Schmidt JW, Wollner D, Curcio J, Riedlinger J, Kim LS. Hormone replacement therapy in menopausal women
Full Text Available mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent ather...H00159 Tangier disease Tangier disease is an autosomal recessive disorder caused by
Full Text Available eta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and v...H00183 Homocystinuria Homocystinuria is a metabolic disorder due to cystathionine b
Full Text Available the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrop...H00819 Stargardt disease (STGD); Fundus flavimaculatus Stargardt disease (STGD) is
Full Text Available H01024 Hereditary mixed polyposis syndrome Hereditary mixed polyposis syndrome (HMP...escription, gene) O'Riordan JM, O'Donoghue D, Green A, Keegan D, Hawkes LA, Payne SJ, Sheahan K, Winter DC Hereditary
Final report from the H2@Scale Workshop held November 16-17, 2016, at the National Renewable Energy Laboratory in Golden, Colorado. The U.S. Department of Energy's National Renewable Energy Laboratory hosted a technology workshop to identify the current barriers and research needs of the H2@Scale concept. H2@Scale is a concept regarding the potential for wide-scale impact of hydrogen produced from diverse domestic resources to enhance U.S. energy security and enable growth of innovative technologies and domestic industries. Feedback received from a diverse set of stakeholders at the workshop will guide the development of an H2@Scale roadmap for research, development, and early stage demonstration activities that can enable hydrogen as an energy carrier at a national scale.
Full Text Available H01196 Hypochromic microcytic anemia Hypochromic microcytic anemia has been associa...ereas mutations impairing NRAMP2 function cause a form of congenital hypochromic microcytic anemia. Hematolo
Full Text Available H01214 Rh-null hemolytic anemia (RHN); Rh-deficiency syndrome Rh (Rhesus) null hemolytic anemia...arying degree of hemolytic anemia and spherostomatocytosis. The Rh protein family comprises Rh50 glycoprotei
Full Text Available H00655 McLeod syndrome McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilep...sy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the er
Full Text Available cteriaceae that inhabits the environment. It causes a number of infections includin...H01067 Proteus mirabilis infection Proteus mirabilis is a motile gram-negative bacterium within the Enteroba
Full Text Available H00532 RASA1-related disorders, including: Parkes-Weber slndrome; Capillary malfor...mation-arteriovenous malformation (CM-AVM); Arteriovenous fistula (AVF) These RASA1-related disorders are co
Full Text Available storage diseases: new perspectives. ... JOURNAL ... World J Gastroenterol 13:2541-53 (2007) DOI:10.3748/wjg.v13...612932 614921 613507 611556 PMID:17552001 ... AUTHORS ... Ozen H ... TITLE ... Glycogen
Full Text Available H00013 Small cell lung cancer Lung cancer is a leading cause of cancer death among men and women in industr...ialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm
Full Text Available ustrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximatel... H00014 Non-small cell lung cancer Lung cancer is a leading cause of cancer death among men and women in ind
Full Text Available th disease Beckwith-Wiedemann syndrome [DS:H00713] present two genetically and clinically opposite clinical ...demann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pi
Full Text Available Sano K, Akamatsu T, Ota H Helicobacter heilmannii infection: clinical, endoscopic and histopathological feat...n) Iwanczak B, Biernat M, Iwanczak F, Grabinska J, Matusiewicz K, Gosciniak G The clinical aspects of Helico
Full Text Available sell-Silver syndrome [DS:H00713] present two genetically and clinically opposite clinic...Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinica
Full Text Available H01168 Sea-blue histiocyte disease Sea-blue histiocyte disease is a clinical entity... Thauvin C, Charbonnier F, Huet F, Gambert P, Frebourg T, Duvillard L Variable expressivity of the clinic
Full Text Available ic sites. MSD is known to combine sulfatase deficiency and clinical features of m...etachromatic leukodystrophy [DS:H00127]. The clinical course ranges from neonatal severe to mild juvenile ca
Full Text Available H01244 T+B+Severe combined immunodeficiencies (SCIDs) Recently, several groups reported a novel clinic...nsion of TCR-gamma/delta T cells combined with TCR-alpha/beta T cell lymphopenia. The clinic
Full Text Available H00237 Diamond-Blackfan anemia (DBA) Diamond-Blackfan anemia (DBA) is a genetically and clinic... treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol
Full Text Available ption, gene, marker) Oji V, Traupe H Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermat...ol 16:349-59 (2006) PMID:15452860 (description, gene) Richard G Molecular genetics
Full Text Available H00358 Chagas disease; American trypanosomiasis Chagas disease, also known as American trypanosomiasis, affe...cts 20 million people in Latin America and is caused by infection with protozoan pa
Full Text Available H01273 Autosomal dominant keratitis (ADK); Hereditary keratitis Autosomal dominant keratitis..., MacDonald IM, Walter MA Mutation of the PAX6 gene in patients with autosomal dominant keratitis
Full Text Available characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edem... H01657 Nephrotic syndrome Nephrotic syndrome is a heterogeneous group of disorders
Full Text Available H00872 Trismus-pseudocamptodactyly syndrome; Hecht-Beals Syndrome; Dutch-Kentucky s...:2387-93 (2006) PMID:15888111 (description) Carlos R, Contreras E, Cabrera J Trismus-pseudocamptodactyly syndrome (Hecht
Full Text Available nt disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft p...pke CL, Inamoto S, Kwartler CS, Pannu H Genetic basis of thoracic aortic aneurysms and dissections: focus on
Full Text Available h postural muscle atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of p...ostural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative
Full Text Available S, Endo F ... TITLE ... Inborn errors of proline metabolism. ... JOURNAL ... J Nutr 138:2016S-2020S (2008) ... PMID:...OMIM: 239500 239510 PMID:18806117 ... AUTHORS ... Mitsubuchi H, Nakamura K, Matsumoto
Full Text Available acteriaceae that cause hospital-acquired infection. Numerous outbreaks have been reported in association wit...H00303 Serratia infection Serratia species are gram-negative bacilli of the Enterob
Full Text Available H01246 Isolated congenital nail clubbing (ICNC); Isolated congenital digital clubbing Isolated congenital...ependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). J Med Genet 46:14-20 (2009) ...
Full Text Available H00698 Nemaline myopathy Nemaline myopathy (NM) is the most common congenital myopa...to six different forms: severe congenital (neonatal) form; Amish NM, intermediate congenital form; typical congenital
Full Text Available n T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. Genetic diagnosis of primary immune deficiencies. Immunol Allergy...mmunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 12
Full Text Available nisyan H, Majzoub J, Miller DT. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North...mary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120:776-94 (2007) ...
Full Text Available hert V, Hovhannisyan H, Majzoub J, Miller DT. Genetic diagnosis of primary immune deficiencies. Immunol Allergy...ies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120:776-94 (2007) PMI
Full Text Available H01302 Hyperchlorhidrosis isolated (HCHLH) Hyperchlorhidrosis is excessive chloride secretion in sweat.... Abnormal sweat chloride levels is found also in conjunction with various metabolic, en...ic disorder characterized by excessive sweating and increased sweat chloride leve
Full Text Available H01040 Bamforth-Lazarus syndrome Bamforth-Lazarus syndrome is congenital hypothyro...ions in FOXE1 are associated with Bamforth-Lazarus syndrome. FOXE1 is a member of the forkhead/winged-helix
Full Text Available lescence and early adulthood. It is characterized by hallucinations and delusions (... H01649 Schizophrenia Schizophrenia is a common serious psychotic illness that typically emerges in late ado
Full Text Available uba H, Ravel C, Seeler J, Achermann JC, McElreavey K ... TITLE ... Human male infertility...y LJ, Yan W, Lamb DJ, Matzuk MM ... TITLE ... Non-invasive genetic diagnosis of male infertility
Full Text Available H00990 Microcephaly, Amish type Microcephaly, Amish type (MCPHA) is a lethal, auto...arate in the urine, and premature death. This disorder has been observed in Old Order Amish families. Patien
Full Text Available [DS:H00653]. ICD-10: J93.1 OMIM: 173600 PMID:22343477 (description, environmental factor) Grundy S, Bentley... Respiration 83:185-9 (2012) PMID:20872980 (description, gene, environmental factor) Luh SP Review: Diagnosi
Full Text Available H00317 Melioidosis Melioidosis is an infection caused by the gram-negative soil-dw...elling bacillus Burkholderia pseudomallei. It predominantly affects people in regular contact with soil and
Full Text Available H01191 Asthma with nasal polyps and aspirin intolerance Asthma is a phenotypically... with susceptibility to asthma with nasal polyps and aspirin intolerance. Immune system disease TBX21 [HSA:3
Full Text Available H00899 Lysinuric protein intolerance (LPI) Lysinuric protein intolerance (LPI) is ...e) ... AUTHORS ... Sperandeo MP, Andria G, Sebastio G ... TITLE ... Lysinuric protein intolerance: update and exte
Full Text Available H01031 Orthostatic intolerance (OI); Postural tachycardia syndrome (POTS) Orthostatic intolerance...rdan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D ... TITLE ... Orthostatic intolerance
Full Text Available H00112 Paratyphoid fever Paratyphoid fever is a systemic febrile illness endemic in developing countries...fects those living in developing countries where sanitation is lacking and the access to clean water is redu
Full Text Available H00381 Dengue Dengue is a globally important infection that endangers 2.5 billion people in over 100 countri...es, especially in Southeast and South Asia and Central and South America. Dengue vi
Full Text Available ... AUTHORS ... Grimbacher B, Holland SM, Puck JM ... TITLE ... Hyper-IgE syndromes. ... ...S ... Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland
Full Text Available H00978 Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM) Thromb...ocytopenia is defined by a decrease in the number of platelets in circulating blood
Full Text Available H01181 T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) T-c...ell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (
Full Text Available H00614 Infantile systemic hyalinosis and juvenile hyaline fibromatosis Infantile s...rum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW ... TITLE ... Infantile systemic hyalinosis:
Full Text Available H00317 Melioidosis Melioidosis is an infection caused by the gram-negative soil-dwe...lling bacillus Burkholderia pseudomallei. It predominantly affects people in regular contact with soil and w
Full Text Available H00338 Pseudomembranous colitis Clostridium difficile is a gram-positive anaerobic ...bacillus that causes a broad spectrum of clinical symptoms ranging from mild diarrhea to severe pseudomembranous colitis
Full Text Available bacteriaceae that cause hospital-acquired infection. Numerous outbreaks have been reported in association wi... H00303 Serratia infection Serratia species are gram-negative bacilli of the Entero
Full Text Available hypoglycemia with hemihypertrophy (HIHGHH) is characterized by hemihypertrophy without any other features of Beckwith-Wiedema...ted metabolic disease AKT2 [HSA:208] [KO:K04456] ... See also H00713 Beckwith-Wiedema
Full Text Available H01879 Wiedemann-Steiner syndrome; Alazami-Yuan syndrome Wiedemann-Steiner Syndrom...a N, Matsumoto N ... TITLE ... Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A
Full Text Available H00338 Pseudomembranous colitis Clostridium difficile is a gram-positive anaerobic... bacillus that causes a broad spectrum of clinical symptoms ranging from mild diarrhea to severe pseudomembranous colitis
Full Text Available H01113 Acid phosphatase deficiency Acid phosphatase deficiency is caused by defects...(1970) PMID:4139985 Nadler HL Treatment of acid phosphatase deficiency disorders. Birth Defects Orig Artic Ser 9:195-7 (1973) ...
Full Text Available H01953 Glycogen storage disease type XIII Glycogen storage disease type XIII (GSD-... gene, which encodes the muscle beta-enolase. The typical presentation is exercise intolerance and myalgias.
Full Text Available H01232 Syndromic multisystem autoimmune disease Syndromic multisystem autoimmune disea...ubiquitin ligase deficiency causes this disease. Immune system disease ITCH [HSA:... Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disea
Full Text Available H01717 Optic neuritis Optic neuritis is a demyelinating inflammatory disease of th...feron or glatiramer acetate is recommended. Nervous system disease ... Methylprednisolone [DR:D00751] Inter
Full Text Available H00350 Psittacosis; Parrot fever Psittacosis, also known as parrot disease, is an infectious disea...Although pneumonia is the most common manifestation of this disease, all organ systems can be involved. Infectious disea
Full Text Available H00749 Episodic ataxias Episodic ataxias (EAs) are a group of rare autosomal-dominant disea...he number of phenotypes and mutated genes will grow further. Nervous system disease (EA1) KCNA1 [HSA:3736] [
Full Text Available H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial ...hyperostosis Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia...eleg O ... TITLE ... Exocrine pancreatic insufficiency, dyserythropoeitic anemia, a
Full Text Available H00490 Diaphyseal dysplasia with anemia (Ghosal) Diaphyseal dysplasia with anemia ...(Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1
Full Text Available H01196 Hypochromic microcytic anemia Hypochromic microcytic anemia has been associ...hereas mutations impairing NRAMP2 function cause a form of congenital hypochromic microcytic anemia. Hematol
Full Text Available H01214 Rh-null hemolytic anemia (RHN); Rh-deficiency syndrome Rh (Rhesus) null hemolytic anemia...varying degree of hemolytic anemia and spherostomatocytosis. The Rh protein family comprises Rh50 glycoprote
Full Text Available Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M The difference between rare and exceptionally rare: mo...4988808 (description, gene) Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs
Full Text Available H01721 Anti-glomerular basement membrane (GBM) disease; Goodpasture syndrome Goodp... ... TITLE ... Advances in the pathogenesis of Goodpasture's disease: from epitopes....005 ... PMID:23806563 (description) ... AUTHORS ... Dammacco F, Battaglia S, Gesualdo L, Racanelli V ... TITLE ... Good
Full Text Available H00614 Infantile systemic hyalinosis and juvenile hyaline fibromatosis Infantile sy...stemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF) are autosomal recessive diseases with consid
Full Text Available H01086 Lymphatic filariasis Lymphatic filariasis is a mosquito-borne parasitic nema...scription, env_factor, drug) Taylor MJ, Hoerauf A, Bockarie M Lymphatic filariasis and onchocerciasis. Lance
Full Text Available ressive motor and cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively report... ... Menezes Cordeiro I, Nzwalo H, Sa F, Ferreira RB, Alonso I, Afonso L, Basilio C ... TITLE ... Shifting the CARASIL paradigm: report
Full Text Available Ohtahara syndrome; its overview referring to our 16 cases. Brain Dev 24:13-23 (2002) PMID:18469812 Saitsu H,... Y, Ohtahara S Early-infantile epileptic encephalopathy with suppression-bursts,
Full Text Available H01451 Actinomycetoma Nocardia brasiliensis is a nonmotile, Gram-positive bacteriu...es, this organism causes actinomycetoma which is a chronic disease usually located on the extremities and is
Full Text Available H01038 Cerebellar ataxia cayman type (ATCAY); Cayman ataxia Cerebellar ataxia cayma..., Mitsuda T, Nakagawa T Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated
Full Text Available H01038 Cerebellar ataxia cayman type (ATCAY); Cayman ataxia Cerebellar ataxia caym... ... Hayakawa Y, Itoh M, Yamada A, Mitsuda T, Nakagawa T ... TITLE ... Expression and localization of Cayman ataxia
Full Text Available H00975 Rotaviral enteritis; Rotaviral gastroenteritis Rotavirus is the most important cause of acute infant...ile gastroenteritis and causes 611 000 deaths worldwide each year. Infections have
Full Text Available icals. Of the various EAA syndromes, Farmer's lung and Bird fancier's disease are the commonest forms that h...al] (Sax lung) Avian proteins (Bird fanciers disease) Laboratory animals (Animal handlers lung) Fish meal ex
Full Text Available H00630 Rheumatoid arthritis Rheumatoid arthritis (RA) is a chronic autoimmune joint... a hyperplastic pannus with infiltrated macrophage-like and fibroblast-like synoviocytes and invades joints
Full Text Available H00762 SEMD, Omani type; Spondyloepiphyseal dysplasia with congenital joint disloca...tions SEMD, Omani type is a form of spondyloepi(meta)physeal dysplasia with congenital joint dislocations es
Full Text Available R, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. Genetic...iencies. Mayo Clin Proc 73:865-72 (1998) PMID:18424339 (gene) Morra M, Geigenmuller U, Curran J, Rainville I
Full Text Available V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestila M Mutant CHUK and severe fetal encasement malformation. N Engl J Med 363:1631-7 (2010) ...
Full Text Available H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome Macrocephaly, alopecia...oven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E RIN2 deficiency results in macrocephaly, alopecia
Full Text Available H00017 Esophageal cancer Esophageal cancer represents the 9th leading cancer in the world...though the incidence of EAC is increasing faster than any other malignancy in the western world
Full Text Available H00782 Hypotrichosis and recurrent skin vesicles Hypotrichosis and recurrent skin v...utation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicle
Full Text Available rt of the indiginous microbiota of the human oropharynx. Infections with this bacterium are infrequent. It h...atment with third-generation cephalosporins. ... PMID:6816135 (description, env_factor) ... AUTHORS ... Albritton WL ... TITLE ... Infection
Full Text Available ia. CACT deficiency is clinically characterized by life-threatening non-ketotic h...e across this membrane. It is one of the key enzymes for transporting long-chain fatty acids into mitochondr
Full Text Available H01822 Epilepsy with myoclonic absence Epilepsy with myoclonic absences (EMA) is characterized clinica...ith a progressive tonic contraction. The diagnosis is based on clinical observation and ictal polygraphic an
Full Text Available H01244 T+B+Severe combined immunodeficiencies (SCIDs) Recently, several groups reported a novel clinica...ansion of TCR-gamma/delta T cells combined with TCR-alpha/beta T cell lymphopenia. The clinica
Full Text Available tic sites. MSD is known to combine sulfatase deficiency and clinical features of ...metachromatic leukodystrophy [DS:H00127]. The clinical course ranges from neonatal severe to mild juvenile c
Full Text Available H00236 Congenital polycythemia; Familial erythrocytosis (ECYT) Familial and congeni...rythrocytosis. Hematology 12:131-9 (2007) PMID:15642677 Gordeuk VR, Stockton DW, Prchal JT Congenital
Full Text Available H00628 Congenital bile acid synthesis defect (CBAS), including: 3-beta-hydroxy-delt...; Oxysterol 7-alpha-hydroxylase deficiency (CBAS3); Alpha-methylacyl-CoA racemase deficiency (CBAS4) Congenital
Full Text Available H00903 Congenital clubfoot; Congenital talipes equinovarus Congenital clubfoot is a...s of idiopathic clubfoot. Clin Orthop Relat Res 39-48 (2002) PMID:12587918 (description) Miedzybrodzka Z Congenital
Full Text Available nger protein, have been reported. Skin and connective tissue disease ZNF750 [HSA:79755] ... MeSH: C565217 ...served in the disease. Mutations in ZNF750, which encodes a putative C2H2 zinc fi
Full Text Available H00454 Oral-facial-digital syndrome 1 Oral-facial-digital type I (OFDI) syndrome is...: 311200 PMID:19876934 (description, gene) Macca M, Franco B The molecular basis of oral-facial-digital synd
Full Text Available H00485 Robinow syndrome Robinow syndrome is characterized by distinctive craniofacial...hn MT, Cunningham ML, Petryk A, Lohr JL Craniofacial and intraoral phenotype of Robinow syndrome forms. Clin Genet 80:15-24 (2011) ...
Full Text Available H00921 Revesz syndrome; Exudative retinopathy with bone marrow failure Revesz syndr... very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure
Full Text Available H00581 Alport syndrome Alport syndrome is a hereditary hematuric nephropathy with frequent hearing...rogressive nephritis and hearing impairment. Kidney disease (autosomal) COL4A3 [HSA:1285] [KO:K06237] (autos
Full Text Available H01882 Asperger syndrome Asperger syndrome (AS), a behavioral disorder that is rel...20817 OMIM: 608638 300494 300497 PMID:25655905 ... AUTHORS ... Tarazi FI, Sahli ZT, Pleskow J, Mousa SA ... TITLE ... Asperger
Full Text Available H00364 Cryptococcosis Cryptococcus is a pathogenic yeast that causes opportunistic ...infection especially in the immunocompromised patient. It mainly infects the central nervous system and causes
Full Text Available ozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still rema...8898 Massart A, Lissens W, Tournaye H, Stouffs K Genetic causes of spermatogenic failure. Asian J Androl 14:
Full Text Available H00600 46,XX disorders of sex development (Other), including: Mullerian aplasia and..., Skordis N Sex determination and disorders of sex development according to the revised nomenclature and cla
Full Text Available H00572 ESCO2-related disorders, including: Roberts syndrome; SC phocomelia syndrome...with less marked limb reduction. Mutations in the ESCO2 gene have been detected in both disorders
Full Text Available H01227 Inflammatory bowel disease Inflammatory bowel disease is a heterogeneous group of chronic disorders...from abdominal pain, diarrhea, bleeding, and malabsorption. In most patients, these disorders are manifested
Full Text Available H00532 RASA1-related disorders, including: Parkes-Weber slndrome; Capillary malform...ation-arteriovenous malformation (CM-AVM); Arteriovenous fistula (AVF) These RASA1-related disorders are con
Full Text Available H00718 Sotos syndrome and Weaver syndrome Overgrowth syndromes are a heterogeneous group of disorders...letions of NSD1, and thus, represent allelic disorders. Developmental disorder hs
Full Text Available H00655 McLeod syndrome McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epile...psy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the e
Full Text Available H00573 Townes-Brocks syndrome Townes-Brocks syndrome is an autosomal dominant disorder. Characteristic featu...res of the disease include external ear anomalies called microtia, hearing loss, ha
Full Text Available H00762 SEMD, Omani type; Spondyloepiphyseal dysplasia with congenital joint dislocations SEMD, Oman...ahara K, Robertson SP ... TITLE ... Spondyloepiphyseal dysplasia, Omani type: further definition of the phenot
Full Text Available H00864 Trichotillomania Trichotillomania (TTM) is a chronic behavioral disorder cha..., Aruga J Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities. Mol Psychiatry 15:177-84 (2010) ...
Full Text Available H00445 Osteoarthritis with mild chondrodysplasia The disease is characterized by a...m D, Ferguson R, Moskowitz R ... TITLE ... Osteoarthritis in children associated with a mutation in the type I
Full Text Available H00064 Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Lou...is-Bar syndrome; Boder-Sedgwick syndrome Ataxia-telangiectasia (AT) is an autosomal recessive disorder with
Full Text Available H01715 Obesity hypoventilation syndrome; Pickwickian Syndrome Obesity hypoventilat...6.2 MeSH: D010845 OMIM: 257500 PMID:20875161 ... AUTHORS ... Mokhlesi B ... TITLE ... Obesity hypoventilation synd
Full Text Available H01941 Glycogen storage disease type III; Cori disease; Forbes disease Glycogen stor...sis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Stor
Full Text Available H00974 Blue cone monochromacy Blue cone monochromacy (also known as X-linked recessive incomplete achromatop...sia) is a congenital stationary cone dysfunction syndrome characterized by the abse
Full Text Available tractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwar... H01777 Schwartz-Jampel syndrome Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint con
Full Text Available drome (BVVLS) [DS:H01903]; Fazio-Londe disease Infantile progressive bulbar palsy is a rare neurological disorder that occurs in chil...dren. Infantile progressive bulbar palsy presents as following two forms. The Brown
Full Text Available c disorder characterized by excessive sweating and increased sweat chloride levels. HCHLH is cause...lo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS Hyperchlorhidrosis cause
Full Text Available H00394 Measles Measles is a highly contagious respiratory disease caused by measles... virus that belongs to genus Morbillivirus. Measles is a leading cause of mortality in children worldwide. A
Full Text Available H01072 Moraxella catarrhalis infection Moraxella catarrhalis is a gram-negative human mucosal...mpagnari A Moraxella catarrhalis: a review of an important human mucosal pathogen. Microbes Infect 2:547-59 (2000) ...
Full Text Available H00359 Leishmaniasis Leishmaniasis is a vector-borne disease that affects more than 10 million people especi...ally in developing countries of Africa, the Americas, and Asia. Leishmaniasis is ca
Full Text Available H00459 Synpolydactyly Synpolydactyly is a dominantly inherited congenital limb malf...ormation showing digit duplication and webbing of third and fourth fingers. Mutation in HOXD13 induces synpolydactyly
Full Text Available H01330 Brazilian purpuric fever (BPF) Brazilian purpuric fever (BPF), which is cau...on of Haemophilus influenzae biogroup aegyptius (Haemophilus aegyptius) strains associated with Brazil
Full Text Available H00299 Shigellosis; Bacillary dysentery Shigellosis (bacillary dysentery) is a food...t and bloody diarrhea, and tenesmus. Transmission usually occurs via contaminated food and water or through
Full Text Available H01647 Subacute thyroiditis; Subacute granulomatous thyroiditis; De Quervain thyro...iditis Subacute thyroiditis (SAT), also called subacute granulomatous or de Quervain thyroiditis, is a spont
Full Text Available H00185 Citrullinemia (CTLN) Citrullinemia is an autosomal recessive disease caused ...ne citrulline levels. Inherited metabolic disease; Nervous system disease hsa00330(445) Arginine and proline
Full Text Available H00315 Gonococcal infections; Gonorrhea Gonorrhea is an ancient disease caused by t...tant forms of gonorrhea have been discovered. Infectious disease Neisseria gonorrhoeae [GN:ngo ngk ngt] Azit
Full Text Available H00309 Multidrug-resistant Acinetobacter infection Acinetobacter baumannii has emerged as a worldwide probl...em as a nosocomial pathogen in hospitalized patients. It can cause bacteremia, pneu
Full Text Available H00825 Familial flecked retina syndrome, including: Doyne honeycomb degeneration o...s albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori. Doyne honeycomb degener
Full Text Available H00711 Russell-Silver syndrome; Silver-Russell syndrome Russell-Silver syndrome (RSS) is an imprinting...tion to maternal uniparental disomy of chromosome 7, hypomethylation of the imprinting control region 1 (ICR
Full Text Available H00888 Nephrolithiasis/osteoporosis, hypophosphatemic Nephrolithiasis/osteoporosis...d B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G ... TITLE ... Nephrolithiasis and osteop
Full Text Available H00694 Dent disease, including: Dent disease 1; Dent disease 2; X-linked recessive nephrolithiasis...nction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis
Full Text Available H01213 Gallbladder disease; Cholecystitis; Cholelithiasis Gallbladder disease is o... almost always associated with cholelithiasis, or gallstones. Cholecystitis and cholelithiasis appear to be ... AUTHORS ... Rosmorduc O, Poupon R ... TITLE ... Low phospholipid associated cholelithiasis: association with mu
Full Text Available H01298 Pulmonary alveolar microlithiasis (PALM) Pulmonary alveolar microlithiasis i...e pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. Am J Hum Genet 79:650-6 (2006) ...
Full Text Available H01293 Narcolepsy Narcolepsy is a disabling sleep disorder characterized by irresis...tible excessive daytime sleepiness and cataplexy, a condition triggered by strong emotions leading to a sudd
Full Text Available H00825 Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD); Basal...s, fundus flavimaculatus, familial drusen and fleck retina of Kandori. Doyne honeycomb degeneration of retina (DHRD) and Basal
Full Text Available H00402 Severe acute respiratory syndrome; SARS Severe acute respiratory syndrome (S...sons learned from other coronaviruses. Viral Immunol 16:461-74 (2003) PMID:20674795 (description) Hui DS, Chan PK Severe
Full Text Available ription) Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nurnberg G, Kluck C, Herbert H, Martin A, Hussa...344231 (description) Medina-Martinez O, Jamrich M Foxe view of lens development and disease. Development 134
Full Text Available , Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT Mutations in a...Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL Pyridoxine depende
Full Text Available H00715 Darier disease; Dyskeratosis follicularis Darier disease is an autosomal dom...-7 (2011) PMID:15649206 (description) Zeglaoui F, Zaraa I, Fazaa B, Houimli S, El Fekih N, Ezzine N, Kamoun MR Dyskeratosis follicula
Full Text Available common overall cause of infectious conjunctivitis caused mainly by adenovirus (Ad). Herpes simplex virus (HS...H01320 Viral conjunctivitis; Keratoconjunctivitis Viral conjunctivitis is the most
Full Text Available H01670 Social anxiety disorder; Social phobia Social anxiety disorder (SAD) is the...8374843 (description, drug) ... AUTHORS ... Stein MB, Stein DJ ... TITLE ... Social anxiety disorder. ... JOURNAL ...
Full Text Available H01219 Restrictive cardiomyopathy (RCM) Restrictive cardiomyopathy (RCM) is an unc...AUTHORS ... Parvatiyar MS, Pinto JR, Dweck D, Potter JD ... TITLE ... Cardiac troponin mutations and restrictive cardiomyopathy
Full Text Available H00682 Woodhouse-Sakati syndrome; Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrap...order that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal sig
Full Text Available racterized by immune deficiency, facial and skeletal abnormalities, hearing impai...h hepatomegaly and early death following severe infections (type 1) and a mild form with hearing loss and me
Full Text Available H00815 Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing...aracterized by the association of cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, sensorineural hea...ring loss, hypogonadism, short stature, and hyperglycemi
Full Text Available H01513 Retinoblastoma The retinoblastoma is an eye tumor of childhood that arises ...in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formatio
Full Text Available C, Santorelli FM Lipoid proteinosis: case report and review of the literature. A..., Korkmaz H Lipoid proteinosis of larynx: review of four cases. Int J Pediatr Otorhinolaryngol 68:1557-61 (2004) ...
Full Text Available mtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nurnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Heg...ele RA, Amr K, May KW, Nurnberg P, Topaloglu AK, Hammers
Full Text Available H00385 South American (new world arenaviral) hemorrhagic fevers, including: Argenti...se viruses can also result in central nervous system disease. Infectious disease New world arenaviruses incl
Full Text Available H00763 Transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn... ... Transient bullous dermolysis of the newborn associated with compound heterozyg...TITLE ... Genetic basis of dominantly inherited transient bullous dermolysis of the newborn
Full Text Available lling difficulties and affects a large number of people (5-10%). It is caused by mu... H01899 Dyslexia Dyslexia is defined by severe difficulties in reading acquisition, often accompanied by spe
Full Text Available arOAs are believed to be extremely rare. Neurodegenerative disease (OPA1) OPA1 [H...nnery PF ... TITLE ... Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. ... JOU
Full Text Available H00450 Sclerosing bone dysplasias, including: Endosteal hyperostosis; Van Buchem dise...ase type 2 These are a heterogeneous group of genetic disorders characterized by high bone density. These dise
Full Text Available H00090 NK cell defects, including the following disease: CD16 deficiency A patient...Current perspectives on primary immunodeficiency diseases. ... JOURNAL ... Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 ...
Full Text Available reditary inclusion body myopathy (hIBM) Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion ...MC, Noguchi S, Nishino I Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body m
Full Text Available H01097 Cerebral palsy Cerebral palsy is a heterogeneous group of neurodevelopmental brain disorders... with Stiff-Person Syndrome and other movement disorders. BMC Neurol 4:20 (2004) PMID:16301218 Lerer I, Sagi
Full Text Available n at night, resulting in nocturnal insomnia and chronic sleep deprivation. The prevalence...ACN alpha-2 delta blocker. A high prevalence of iron deficiency has been found among patients with RLS. It h
Full Text Available H00966 AICA-ribosiduria; ATIC deficiency AICA-ribosiduria is a neurologically devas...114530 Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF AICA-ribosiduria: a novel, neurolog
Full Text Available H00621 Alopecia neurologic defects and endocrinopathy syndrome (ANE syndrome) Alopecia neurolog... R, Bindereif A, Choder M, Shalev S, Sprecher E Alopecia, neurological defects, and endocrinopathy syndrome
Full Text Available H01154 Wolff-Parkinson-White (WPW) syndrome; Preexcitation syndrome Wolff-Parkinson...-White (WPW) syndrome is the most common cause of ventricular pre-excitation, a condition where all or part
Full Text Available H01185 Cerebral amyloid angiopathy (CAA); Hereditary cerebral hemorrhage with amyloidosis...M, Magoni M, Padovani A, Tagliavini F Hereditary cerebral hemorrhage with amyloidosis associated with the E6
Full Text Available H00845 Familial amyloidosis The amyloidoses are a group of diseases in which protei...most common cause of familial amyloidosis. The clinical features of familial amyloidosis vary depending on t
Full Text Available H01636 Fibromyalgia; Fibromyalgia syndrome Fibromyalgia is a common and chronic pa...owski J, Ruckemann-Dziurdzinska K, Zaborowska-Sapeta K, Kowalski I, Kiebzak W ... TITLE ... Fibromyalgia Syndr
Full Text Available H01972 Autoimmune polyendocrinopathy syndrome type 1; Autoimmune polyendocrinopath...autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrino
Full Text Available H01971 IPEX syndrome; Immune dysregulation, polyendocrinopathy, enteropathy, X-lin...ked syndrome IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, en...Ochs HD ... TITLE ... Immune dysregulation, polyendocrinopathy, enteropathy, and X-
Full Text Available H00289 Recurrent hydatidiform moles (RHM); Familial biparental hydatidiform Hydati...ely 1 in every 1500 pregnancies in Europe and North America. This incidence is higher in other areas in the world. Recurrent
Full Text Available ies, and myopathy with exercise intolerance. Inherited metabolic disease ALDOA [H...ne, which encodes the red cell aldolase. The typical presentation is hemolytic anemia, neurologic abnormalit
Full Text Available H00031 Breast cancer Breast cancer is the leading cause of cancer death among women... ... Schmidt JW, Wollner D, Curcio J, Riedlinger J, Kim LS. ... TITLE ... Hormone replacement therapy in menopausal women
Full Text Available H00030 Cervical cancer Cervical cancer is the second largest cause of cancer-related death in women...r WC, Kaufman R, Herbst AL, Hoover RN. ... TITLE ... Cancer risk in women prenatall
Full Text Available H00929 Congenital vertical talus Congenital vertical talus is a primary dislocation of the talonavicula...r joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicul
Full Text Available ia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia com... H01001 COACH syndrome COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplas
Full Text Available H00635 Aniridia Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplas...ia. It can be either isolated or accompanied by other ocular defects. Aniridia is c
Full Text Available H00316 Glanders Glanders is an infectious disease of equines that can be transmitted to humans...nt of glanders is Burkholderia mallei, a gram-negative aerobic bacterium. In equines and humans, B. mallei i
Full Text Available H00897 Pontocerebellar hypoplasia Pontocerebellar hypoplasia (PCH) is a group of inherited progressive... been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive
Full Text Available H00884 Familial progressive hyperpigmentation Familial progressive hyperpigmentatio...o J, Brandrup F, Bygum A, Boon L, Vikkula M KITLG mutations cause familial progressive hyper- and hypopigmen
This work dealt with the diffusant release from the polyvinyl-pyrrolidone-polyacrylic acid (PVP-PAA) semi-interpenetrating network (semi-IPN) film when the film was placed in separate aqueous dissolution media with various pH values. The pH effect on the swelling behavior of the film and the rates of diffusant release from the film were studied. The PVP-PAA semi-IPN films and the PVP-PAA complexes were prepared from photopolymerization of the mixture of PVP and acrylic acid, in the presence of benzin methyl ether. The PVP-PAA complexes were characterized by means of DSC and FT-IR. The PVP-PAA semi-IPN films with various percentages of a crosslinking agent were investigated. The study of pH effect on the swelling of the semi-IPN film was carried out in 0.1 N HCl solution, pH 3.0 and 6.0 buffers. The swelling rate of PVP-PAA semi-IPN film in pH 6.0 buffer was much higher than the rates in 0.1 N HCl and pH 3.0 buffer. The chemical to be released from the film was incorporated during the film preparation and the diffusant used was either caffeine (hydrogen-bonding-acceptor) or salicylamide (hydrogen-bonding-donator). The diffusant release from the PVP-PAA semi-IPN in 0.1 N HCl solution and in the phosphate buffers with various pH values was investigated. Release rate was faster in high pH media. The chemical valve function of the PVP-PAA semi-IPN film in controlling release rate was studied by alternating the dissolution medium between 0.1N HCl solution and pH 6.0 buffer. Consistently, the release rate increased when the dissolution medium was changed from 0.1 N HCl solution to pH 6.0 buffer, and the rate dropped while the medium was was switched from pH 6.0 buffer to 0.1 N HCl solution. Finally, the effects of the type of crosslinking agent, the percentage of crosslinking agent used, and the molar ratio of PVP/AA on the diffusant release from the PVP-PAA semi-IPN film were explored.
Full Text Available H00250 Congenital nongoitrous hypothyroidism (CHNG) Congenital nongoitrous hypothyroidism...ng can avoid the poor prognosis of hypothyroidism. Endocrine disease (CHNG1) TSHR...D:18174723 Gruters A, Krude H Update on the management of congenital hypothyroidism. Horm Res 68 Suppl 5:107...of newborn screening and therapy for congenital hypothyroidism. Pediatrics 117:22...90-303 (2006) PMID:15863666 Park SM, Chatterjee VK Genetics of congenital hypothyroidism. J Med Genet 42:379
Full Text Available H00491 Craniometaphyseal dysplasia Craniometaphyseal dysplasia, caused by mutations... in ANKH, is a very rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal...23000 PMID:20301634 (description, gene) Reichenberger E, Chen IP Craniometaphyseal...akonarson H, Nah HD Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. Am J Med Genet A 152A:770-6 (2010) ...
Full Text Available H00806 Benign familial neonatal and infantile epilepsies, including: Benign familial neonatal epilepsy... (BFNE); Benign familial neonatal infantile epilepsy (BFNIE); Benign familial infantile epilepsy... (BFIE) Benign familial neonatal epilepsy (BFNE), benign familial neonatal infantile epilepsy (BFNIE)..., and benign familial infantile epilepsy (BFIE) are three benign epilepsy syndrom...nghe P, Lerche H Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 133:1403-14 (2010) ...
Full Text Available H01395 POLG related disorders, including: Alpers syndrome [DS:H01389]; Childhood m...ant progressive external ophthalmoplegia, all of other POLG-related disorders are... inherited in an autosomal recessive manner. The POLG-related disorders comprise a continuous spectrum of ov...hondrial DNA depletion disorders. ... JOURNAL ... Methods 51:364-73 (2010) DOI:10.1016/j.ymeth.2010.05.008 ... ...BH, Naviaux RK ... TITLE ... The clinical diagnosis of POLG disease and other mitoc
Full Text Available t is unresponsive to vitamin B12 and folic acid. Inherited metabolic disease; Hematologic disease hsa00240(7...372) Pyrimidine metabolism UMPS; uridine monophosphate synthetase [HSA:7372] [KO:K13421] Orotic acid [CPD:C0...1 Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y Molecular cloning of the human UMP synthase
Full Text Available H01183 Thiamine-responsive megaloblastic anemia (TRMA) Thiamine-responsive megaloblastic anemia...terized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness, due to mutations...kaya S, Agladioglu SY, Kendirci HN, Senocak F ... TITLE ... Thiamine-responsive megaloblastic anemia syndrome ...izli S, Uygun H, Dai A, Gumruk F ... TITLE ... Thiamine-responsive megaloblastic anemia syndrome. ... JOURNAL ... Int J Hematol 92:524-6 (2010) DOI:10.1007/s12185-010-0681-y
Full Text Available an J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton DF, Wo..., Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Tur... Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau
Lund, Anker Brink; Meyer, Gitte
Hvad er civilsamfundet? Anker Brink Lund og Gitte Meyer fra CBS Center for Civil Society Studies gennemgår civilsamfundet bogstav for bogstav. Vi er nået til H for Handling.......Hvad er civilsamfundet? Anker Brink Lund og Gitte Meyer fra CBS Center for Civil Society Studies gennemgår civilsamfundet bogstav for bogstav. Vi er nået til H for Handling....
Full Text Available H00246 Primary hyperparathyroidism; Familial hyperparathyroidism (HRPT) Familial hyperparathyroidism...dies in two patients with primary hyperparathyroidism and uncertain pathological ... ... Wang PF, Tan MH, Zhang C, Morreau H, Teh BT ... TITLE ... HRPT2, a tumor suppressor gene for hyperparathyroidism...d hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroi...dism-jaw tumor syndrome. Sporadic cases are also known t
Full Text Available H01823 Myoclonic-astatic epilepsy; Doose syndrome Myoclonic astatic epilepsy (MAE)..., also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple .... In general, children are developmentally normal before the onset of epilepsy and organic brain abnormaliti...developmental outcome to intractable epilepsy with mental retardation. Favorable outcomes were reported in h... ... AUTHORS ... Kelley SA, Kossoff EH ... TITLE ... Doose syndrome (myoclonic-astatic epilepsy
Full Text Available H00422 Glycoproteinoses, including: Sialidosis/ Mucolipidosis I [DS:H00142]; Galactosialidosis...in A-deficiency causes combined sialidase and beta-galactosidase deficiency (Sialidosis and Galactosialidosis...isease; Lysosomal storage disease; Nervous system disease (Sialidosis, Galactosialidosis) NEU1; lysosomal si...alidase [HSA:4758] [KO:K01186] (Galactosialidosis) CTSA; cathepsin A [HSA:5476] [KO:K13289] (Galactosialidosis...1204] ... (Sialidosis, Galactosialidosis) N-Acetylneuraminic acid (Sialic acid) [C
Full Text Available stroenteropathy due to Norwalk agent [DS:H01323] Viral gastroenteritis is an infection of the stomach and in...y cause diarrhea in infants and young children, whereas the Norwalk group of viru...avirus A [GN:T40092] Human rotavirus B [GN:T40123] Rotavirus C [GN:T40094] Rotavirus H [GN:T40093] Enteric adenovirus Norwalk... virus [GN:T40107] Norwalk-like virus Calicivirus Astrovirus ...
Gough, Dara Van; Huber, Dale L.; Bunker, Bruce C.; Roberts, Mark E.
A programmable pH buffer comprises a copolymer that changes pK.sub.a at a lower critical solution temperature (LCST) in water. The copolymer comprises a thermally programmable polymer that undergoes a hydrophobic-to-hydrophilic phase change at the LCST and an electrolytic polymer that exhibits acid-base properties that are responsive to the phase change. The programmable pH buffer can be used to sequester CO.sub.2 into water.
Full Text Available H00201 Erythropoietic porphyria (EP), including: Erythropoietic protoporphyria (EPP...); Congenital erythropoietic porphyria (CEP); Gunther Disease; X-linked erythropoietic protoporphyria (XLEPP) Erythropoietic protopor...76100 177000 300752 PMID:18537592 Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H Erythropoietic porphyria...olymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 78:2-14 (2006) P...d mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria
Full Text Available H01462 Rapidly growing mycobacteria infection Nontuberculous mycobacteria (NTM) ar...e classified into 2 categories: slow-growing mycobacteria (SGM) and rapidly-growing mycobacteria (RGM), base... ... See also H01458 Nontuberculous mycobacterial infection. ICD-10: A31.9 MeSH: D009165 PMID:23114094 (descrip... ... TITLE ... Differentiating rapid- and slow-growing mycobacteria by difference in time to growth detection i... Raad II ... TITLE ... Rapidly growing mycobacterial bloodstream infections. ... JOURNAL ... Lancet Infect Dis 13:
Full Text Available H00294 Dilated cardiomyopathy (DCM) Dilated cardiomyopathy (DCM) is a heart muscle...linical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. ... JOURNAL ... Genet... E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R ... TITLE ... Familial neonatal isolated cardiomyopathy...tor, drug) ... AUTHORS ... Mobini R, Maschke H, Waagstein F ... TITLE ... New insights into the pathogenesis of dilated cardiomyopathy
Full Text Available H00241 Combined proximal and distal renal tubular acidosis (RTA type 3) Renal tubular acidosis... (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostas...0 PMID:11045400 (gene) Rodriguez-Soriano J New insights into the pathogenesis of renal tubular acidosis--fro...riguez Soriano J Renal tubular acidosis: the clinical entity. J Am Soc Nephrol 13
Full Text Available H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4), including: Pseudohy...poaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome) Renal tubular acidosis (R...TA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to ren...mary pseudohypoaldosteronism type 1 (PHA1) is characterized by salt-wasting, hyperkalemia, and metabolic acidosis...insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. Pediatr Neph
Full Text Available dermopathy--a lethal congenital laminopathy. Case report and review of the literature. Eur J Pediatr 168:100...7-12 (2009) PMID:9217218 (description) Mau U, Kendziorra H, Kaiser P, Enders H Restrictive dermopathy: report and review... form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. Am J Med Genet 43:539-47 (1992) ...
Full Text Available H00283 Ebola haemorrhagic fever Ebola virus causes a severe form of viral haemorrha...gic fever infection in man, designated Ebola haemorrhagic fever that was discovered in 1976. The mortality r...lavirus [VGNM:NC_006432] ICD-10: A98.4 MeSH: D019142 MedlinePlus: 001339 PMID:21084112 (description) Feldmann H, Geisbert TW Ebola... haemorrhagic fever. Lancet 377:849-62 (2011) PMID:12000905 (description) Bruce J, Brysiewicz P Ebola
Kendrick, B K; Hazra, Jisha; Balakrishnan, N
The H3 system has served as a prototype for geometric phase (GP) effects in bimolecular chemical reactions for over three decades. Despite a large number of theoretical and experimental efforts, no conclusive evidence of GP effects in the integral cross section or reaction rate has been presented until recently [B. Kendrick et al., Phys. Rev. Lett. 115, 153201 (2015)]. Here we report a more detailed account of GP effects in the H + H2(v = 4, j = 0) → H + H2(v', j') (para-para) reaction rate coefficients for temperatures between 1 μK (8.6 × 10(-11) eV) and 100 K (8.6 × 10(-3) eV). The GP effect is found to persist in both vibrationally resolved and total rate coefficients for collision energies up to about 10 K. The GP effect also appears in rotationally resolved differential cross sections leading to a very different oscillatory structure in both energy and scattering angle. It is shown to suppress a prominent shape resonance near 1 K and enhance a shape resonance near 8 K, providing new experimentally verifiable signatures of the GP effect in the fundamental hydrogen exchange reaction. The GP effect in the D + D2 and T + T2 reactions is also examined in the ultracold limit and its sensitivity to the potential energy surface is explored.
Gerlich, D.; Plašil, R.; Zymak, I.; Hejduk, M.; Jusko, P.; Mulin, D.; Glosík, J.
Stabilization of H3+ collision complexes has been studied at nominal temperatures between 11 and 33 K using a 22-pole radio frequency (rf) ion trap. Apparent binary rate coefficients, k* = kr + k3[H2], have been measured for para- and normal-hydrogen at number densities between some 1011 and 1014 cm-3. The state specific rate coefficients extracted for radiative stabilization, kr(T;j), are all below 2 - 10-16 cm3 s-1. There is a slight tendency to decrease with increasing temperature. In contrast to simple expectations, kr(11 K;j) is for j = 0 a factor of 2 smaller than for j = 1. The ternary rate coefficients for p-H2 show a rather steep T-dependence; however, they are increasing with temperature. The state specific ternary rate coefficients, k3(T;j), measured for j = 0 and derived for j = 1 from measurements with n-H2, differ by an order of magnitude. Most of these surprising observations are in disagreement with predictions from standard association models, which are based on statistical assumptions and the separation of complex formation and competition between stabilization and decay. Most probably, the unexpected collision dynamics are due to the fact that, at the low translational energies of the present experiment, only a small number of partial waves participate. This should make exact quantum mechanical calculations of kr feasible. More complex is three-body stabilization, because it occurs on the H5+ potential energy surface.
Let Σ = Σg,1 be a compact surface of genus g at least 3 with one boundary component, Γ its mapping class group and M = H1(Σ, ℤ) the first integral homology of Σ. Using that Γ is generated by the Dehn twists in a collection of 2g+1 simple closed curves (Humphries' generators) and simple relations ...
We prove that under the extended Carleson's condition, a sequence (xn) ⊂ BH is linear interpolating for H∞(BH) for an infinite dimensional Hilbert space H. In particular, we construct the interpolating functions for each sequence and find a bound for the constant of interpolation. Keywords: Infinite dimensional holomorphy, ...
Simonsen, Jens Bæk; Rusteika, Nerijus; Johnson, Matthew Stanley
We have performed ab initio calculations to examine the potential energy along the normal modes of ground-state HCHO and along the reaction coordinates for loss of H2 and atomic hydrogen, respectively. This exploration showed that there are no specific features that will lead to reaction on the e...
Full Text Available H00801 Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thor...acic type (AAT) Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major... diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inheri...f dilatation and/or dissection of the thoracic aorta, absence of clinical features of Marfan syndrome, Loeys...pke CL, Inamoto S, Kwartler CS, Pannu H Genetic basis of thoracic aortic aneurysms and dissections: focus on
Full Text Available H01183 Thiamine-responsive megaloblastic anemia (TRMA) Thiamine-responsive megaloblastic anemia... SY, Kendirci HN, Senocak F Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case..., drug) Neufeld EJ, Fleming JC, Tartaglini E, Steinkamp MP Thiamine-responsive megaloblastic anemia syndrome...tion, gene) Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F Thiamine-responsive megaloblastic anemia syndrome. Int J Hematol 92:524-6 (2010) ... ...erized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness, due to mutations
Full Text Available rent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory loss. HNA is ...triggered by environmental factors such as infection or parturition. It has been ...reported that HNA is caused by mutations in the gene septin 9. Septins are implicated in formation of the cy...toskeleton, cell division and tumorigenesis. Nervous system disease; Musculoskeletal disease SEPT9 [HSA:1080...iendt E, Young P, Stogbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bi
Full Text Available H00893 Skin fragility-woolly hair syndrome Skin fragility-woolly hair syndrome is a...tein. Patients with skin fragility-woolly hair syndrome present with symptoms including focal and diffuse pa...Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B Novel homozygous mutation in DSP causing skin fragility...th JA Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118:232-8 (2002) ...
Full Text Available H00644 Ectodermal dysplasia/skin fragility syndrome Ectodermal dysplasia/skin fragility... syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and conge...945625 (gene, desription) McGrath JA, Mellerio JE Ectodermal dysplasia-skin fragility syndrome. Dermatol Cli...Garrod DR, Eady RA Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility...n G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA Ectodermal dysplasia-skin fragility syndrome resulti
Full Text Available H00262 Spina bifida Spina bifida is a group of congenital defects of closure of one...20526 Kondo A, Kamihira O, Ozawa H Neural tube defects: prevalence, etiology and prevention. Int J Urol 16:4...cts: balancing genome synthesis and gene expression. Birth Defects Res C Embryo Tod...ay 81:183-203 (2007) PMID:17470131 Kibar Z, Capra V, Gros P Toward understanding the genetic basis of neural tube defects. Clin Genet 71:295-310 (2007) ... ...9-57 (2009) PMID:17963270 Beaudin AE, Stover PJ Folate-mediated one-carbon metabolism and neural tube defe
The original Revised Shapley-Ames (RSA) galaxy sample of almost 1300 galaxies has been augmented with further bright galaxies from the RSA appendix as well as newer galaxy catalogs. A complete and homogeneous, strictly magnitude-limited all-sky sample of 2345 galaxies brighter than 13.4 in apparent blue magnitude was formed. New 21 cm H1 line observations for more than 600 RSA galaxies have been combined with all previously available H1 data from the literature. This new extentise data act allows detailed tests of widely accepted 'standard' reduction and analysis techniques.
Full Text Available H00181 3-Methylcrotonylglycinuria; 3-Methylcrotonyl-CoA carboxylase deficiency 3-Me...thylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with ...a variable phenotype. Inherited metabolic disease hsa00280(56922+64087) Valine, leucine and isoleucine degra...dation MCCC1; 3-methylcrotonyl-CoA carboxylase alpha subunit [HSA:56922] [KO:K019...68] MCCC2; 3-methylcrotonyl-CoA carboxylase beta subunit [HSA:64087] [KO:K01969] 3-methylcrotonylglycine 3-h
Full Text Available h contaminated water, animal feces or infected animals. EHEC is also referred to as verocytotoxin producing ...E. coli (VTEC) or Shiga toxin producing E. coli (STEC). The serotype O157:H7 is first as...sociated with human disease after a multistate outbreak in the United States in 1982 involving contam...inated hamburgers. The symptoms of EHEC infection range from mild diarrhea to hemorrhagic colitis and can progress to a severe cas...es called hemolytic uremic syndrome (HUS). Infectious diseas
Full Text Available H00998 Alternating hemiplegia of childhood Alternating hemiplegia of childhood (ACH.... A characteristic feature of AHC is the disappearance of all abnormalities when the child...(H00775) and alternating hemiplegia of childhood (AHC) share some clinical features. ICD-10: G98 MeSH: C5365...Neville BG, Ninan M The treatment and management of alternating hemiplegia of childhood. Dev Med Child Neuro...el mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J Med Genet 41:621-8 (2004) PMID:
Full Text Available K, Ohnishi Y, Naitoh T, Yamamura K, Ueyama Y, Froguel P, Kimura S, Nagai R, Kadowaki T Globular adiponectin protected ob/ob mice fro... T, Uchida S, Takekawa S, Waki H, Tsuno NH, Shibata Y, Terauchi Y, Froguel P, Tobe K, Koyasu S, Taira K, Kit... Kubota T, Moroi M, Matsui J, Eto K, Yamashita T, Kamon J, Satoh H, Yano W, Froguel P, Nagai R, Kimura S, Ka...m diabetes and ApoE-deficient mice from atherosclerosis. J Biol Chem 278:2461-8 (2003) ...
Full Text Available H01955 Glycogen storage disease type XV Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentation is muscle weakness and cardiomyopathy. Inherited metabolic disease GYG1 [HSA:2992] [KO:K00750] ... ICD-10: E74.0 OMIM: 613507 PMID:20357282 (gene) ... AUTHORS ... Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A ... TITLE ... Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. ... JOURNAL ... N Engl J Med 362:1203-10 (2010) DOI:10.1056/NEJMoa0900661
Full Text Available H00428 Distal renal tubular acidosis (RTA type 1) Renal tubular acidosis (RTA) is c...haracterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impai...a DM, Oliveira EA, Silva AC Molecular pathophysiology of renal tubular acidosis. Curr Genomics 10:51-9 (2009...) PMID:11045400 (gene) Rodriguez-Soriano J New insights into the pathogenesis of renal tubular acidosis...ne, env_factor, marker) Rodriguez Soriano J Renal tubular acidosis: the clinical
Full Text Available H00429 Proximal renal tubular acidosis (RTA type 2) Renal tubular acidosis (RTA) is... characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal imp...4278 PMID:11045400 (gene) Rodriguez-Soriano J New insights into the pathogenesis of renal tubular acidosis--...(gene, env_factor, marker) Rodriguez Soriano J Renal tubular acidosis: the clinical entity. J Am Soc Nephrol... 13:2160-70 (2002) PMID:11095551 (env_factor, drug) Kurtzman NA Renal tubular acidosis syndromes. South Med
Full Text Available H00605 Deafness, autosomal recessive Hereditary deafness is divided into syndromic forms (in which hearing..., with 2-3% of the cases of non-syndromic hearing loss. The autosomal-recessive forms of deafness are genera...ineural deafness), in contrast to the syndromic forms of deafness, where the hearing loss in most cases is c...tations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet 86:138-4...Leal SM, Kremer H Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing
Full Text Available H00910 Hirschsprung disease (HD) Hirschsprung disease (HD) is a relatively common c...00908] ICD-10: Q43.1 MeSH: D006627 OMIM: 142623 600155 613711 613712 PMID:20307847 Mundt E, Bates MD Genetics of Hirschsprung...i P, Shinkai T Pathogenesis of Hirschsprung's disease and its variants: recent progress. Semin Pediatr Surg 13:18-24 (2004) ... ...Following syndromes are Hirschsprung-like phenotypes. Bardet-Biedl syndrome [DS:H00418] Shprintzen-Goldberg ...[HSA:5979] [KO:K05126] EDNRB [HSA:1910] [KO:K04198] GDNF [HSA:2668] [KO:K05452] EDN3 [HSA:1908] [KO:K05227
Full Text Available H00512 Permanent neonatal diabetes mellitus (PNDM) Neonatal diabetes mellitus (NDM)..., which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemi...ease; Endocrine disease hsa04930(3630+3651+6833+3767+2645) Type II diabetes melli...tus hsa04950(3651+3630+2645) Maturity onset diabetes of the young hsa04910(3630+2645) Insulin signaling path...70.2 MeSH: C563424 C563425 C563796 OMIM: 606176 609069 610199 PMID:17349054 (gene) Polak M, Cave H Neonatal diabetes
Full Text Available H01256 Foveal hypoplasia Foveal hypoplasia is characterized by absence or abnormal...X6 gene have been described in foveal hypoplasia. Eye disease PAX6 [HSA:5080] [KO...awa H, Okuyama T, Yamada M ... TITLE ... PAX6 missense mutation in isolated foveal hypoplasia. ... JOURNAL ... Nat...A, Kemmanu V, Shetty R, Anandula V, Madhavarao B, Shetty B ... TITLE ... Variable expressivity of ocular associations of foveal hypopla...sia in a family. ... JOURNAL ... Eye (Lond) 23:1735-9 (2009) DOI:10.1038/eye.2009.180
Full Text Available H01040 Bamforth-Lazarus syndrome Bamforth-Lazarus syndrome is congenital hypothyroidism...423-9 (2010) PMID:2918525 Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS Congenital hypothyroidi...sm, spiky hair, and cleft palate. J Med Genet 26:49-51 (1989) ...
Full Text Available H01829 Acute encephalitis with refractory repetitive partial seizures Acute encephalitis with refractory...LE ... Acute encephalitis with refractory, repetitive partial seizures. ... JOURNAL ... Brain Dev 31:510-4 (2009) DOI:10.1016/j.braindev.2009.02.010 ...
Full Text Available H00406 Acquired immunodeficiency syndrome (AIDS) Since the discovery in 1980s, HIV/AIDS... has become the most important infectious disease globally. Many of the clinical features of HIV/AIDS ca...ormack A, Nicholson JM, Rasnick D, Fiala C, Koehnlein C, Bauer HH, Ruggiero M AIDS
Full Text Available H00033 Adrenal carcinoma Adrenocortical carcinoma (ACC) is a rare endocrine maligna...Ki-67 [HSA:4288] p21 [HSA:1026] p27 [HSA:1027] Mitotane [DR:D00420] ICD-O: 8370/3, Tumor type: Adrenal corti
Full Text Available H00803 Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance... (SESAME) ; SeSAME/EAST syndrome Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance...l deficit, and electrolyte imbalance. This disease links to autosomal recessive m
Full Text Available H00644 Ectodermal dysplasia/skin fragility syndrome Ectodermal dysplasia/skin fragility... syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and cong...ophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. ... JOURNAL ... Nat Genet 17:240-4 (1997) DOI:10.1038/ng1097-240 ...
Full Text Available H00030 Cervical cancer Cervical cancer is the second largest cause of cancer-related death in women...er M, Palmer JR, Robboy SJ, Strohsnitter WC, Kaufman R, Herbst AL, Hoover RN. Cancer risk in women prenatall
Full Text Available H01137 Baylisascariasis Baylisascariasis is a parasitic infection caused by Baylisascaris... humans. Infectious disease Baylisascaris procyonis Larval excretory-secretory antigens (ELISA assay and Wes... humans caused by Baylisascaris procyonis, the common roundworm of raccoons: a review of current literature. Microbes Infect 7:317-23 (2005) ... ..., Shafir SC, Ash LR, Berlin OG Severe and fatal central nervous system disease in
Full Text Available H00224 Bernard-Soulier syndrome; Giant platelet syndrome Bernard-Soulier syndrome i...PMID:18081445 Pham A, Wang J Bernard-Soulier syndrome: an inherited platelet diso...rder. Arch Pathol Lab Med 131:1834-6 (2007) PMID:17109744 Lanza F Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis 1:46 (2006) ...
Full Text Available ndition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-poly...pinga C, van dDer Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RM A role for MLH3 in hereditary nonpol
Full Text Available H00231 Hereditary elliptocytosis (HE) Elliptocytosis is an autosomal dominant hemat...d cell membrane disorders. Blood Rev 21:1-20 (2007) PMID:15071791 Gallagher PG Hereditary elliptocytosis: spectrin and protein 4.1R. Semin Hematol 41:142-64 (2004) ...
Full Text Available H00490 Diaphyseal dysplasia with anemia (Ghosal) Diaphyseal dysplasia with anemia (...Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1,...P, Nadkarni G, Lowe E, Hines P, Vuica M, Griffin M, Resar LM Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemi
Full Text Available H01132 Aplastic anemia (AA) Aplastic anemia (AA) is a rare disease in which the red...uction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemi... risk and treatment outcomes of aplastic anemia. Ann Hematol 90:515-21 (2011) ...
Full Text Available H01278 Iron-refractory iron deficiency anemia (IRIDA) Iron-refractory iron deficiency anemia...se iron-refractory iron deficiency anemia (IRIDA). Nat Genet 40:569-71 (2008) PMID:20704562 Altamura S, D'Al
Full Text Available [HSA:1663] [KO:K11273] Fanconi anemia and Roberts syndrome are described in H002...on stress. It is caused by defective DDX11/ChlR1, a XPD helicase family member. In Warsaw breakage syndrome, features of Fanconi anem...ia (chromosomal breakage) and Roberts syndrome (sister c
Full Text Available H00917 Congenital dyserythropoietic anemias (CDAs) Congenital dyserythropoietic anemia...olascon A, Russo R, Delaunay J Congenital dyserythropoietic anemias. Curr Opin Hematol 18:146-51 (2011) PMID...(2011) PMID:20820969 (description) Kamiya T, Manabe A Congenital dyserythropoietic anemia. Int J Hematol 92:432-8 (2010) ...
Full Text Available ucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency of adenylate... UMPH1 [HSA:51251] [KO:K01081] ICD-10: D55.3 OMIM: 612631 266120 PMID:8890581 Masuda M, Mizoguchi H [Hemolytic anemia...agni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC Genetic basis of hemolytic anemia caused by pyrim
Full Text Available H00783 Febrile seizures, including: Febrile convulsions; Generalized epilepsy with ...febrile seizure plus (GEFS+); Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI) Febrile seizures ...sent the most common form of childhood seizures. Generalized epilepsy with febril...e seizures plus (GEFS+) is a familial epilepsy syndrome with a spectrum of phenotypes including FS. Severe epilepsy
Full Text Available H00807 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy... (NFLE) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by noct...lli F Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: understanding the nicotinic ace
Full Text Available H00996 Amish infantile epilepsy syndrome Amish infantile epilepsy syndrome is an au...tosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindne...aki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH Infantile-onset symptomatic epilepsy
Full Text Available H01112 Polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE syndrome Poly...hydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndro...l retardation, gross movement disorders, and childhood mortality. Severe intractable epilepsy and megalencep
Full Text Available H00432 Hereditary dentine disorders, including the following three diseases: Denti...ne dysplasia, type II; Dentinogenesis imperfecta, types II and III These three disorders comprise a group of...e I, Dixon MJ ... TITLE ... Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. ... J
Full Text Available H00515 The DTDST-related disorders, including: Achondrogenesis IB (ACG IB); Atelos...teogenesis II (AO II); Diastrophic dysplasia (DTD) The DTDST-related disorders are severe autosomal recessiv...e chondrodysplasias including two lethal disorders ACG IB and AO II; and a non-lethal disorder DTD. Patients with these disorders
Full Text Available H00461 FLNB-related disorders, including: ; Atelostogenesis, type I; Boomerang dys...plasia; Atelosteogenesis, type III; Larsen syndrome The FLNB-related disorders include mild to severe osteoc...hondrodysplasias with congenital joint dislocation. AOI and AOIII are lethal or semilethal disorders. Mutati...ons in the gene encoding filamin B (FLNB) are associated with these disorders. Sk
Full Text Available H01160 Schizencephaly Schizencephaly is a clinically and etiologically heterogeneou... with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet 127:555-61 (20...natal imaging with a review of the clinical manifestations. Radiographics 25:647-57 (2005) PMID:8528262 (gen
Full Text Available description, gene) Maher ER, Neumann HP, Richard S von Hippel-Lindau disease: a clinical and scientific revi...amasaki I, Tamura K, Okuda H, Furihata M, Ashida S Von Hippel-Lindau disease: molecular pathological basis, clinic...al criteria, genetic testing, clinical features of tumors and treatment. Jpn J Clin Oncol 36:337-43 (2
Full Text Available msten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E Autosomal recessive cornea plana. A clinical and gen...228241 (description) Sigler-Villanueva A, Tahvanainen E, Lindh S, Dieguez-Lucena J, Forsius H Autosomal dominant cornea plana: clinic
Full Text Available Kawashima M, Tanaka F, Adachi H, Sobue G Molecular genetics and biomarkers of po...Trans R Soc Lond B Biol Sci 354:1005-11 (1999) PMID:9933295 Kanazawa I Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. Neurogenetics 2:1-17 (1998) ...
Full Text Available RAD50 [HSA:10111] [KO:K10866] MeSH: D049932 C567767 OMIM: 251260 613078 PMID:22373003 Chrzanowska KH, Greg...orek H, Dembowska-Baginska B, Kalina MA, Digweed M Nijmegen breakage syndrome (NBS)
Full Text Available H01328 Aspergillosis Infectious disease Aspergillus fumigatus [GN:afm] Aspergillus flavus [GN:afv] Aspergill...us nidulans [GN:ani] Aspergillus niger [GN:ang] ICD-10: B44 MeSH: D001228 MedlinePlus: 001326 ...
Full Text Available Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Fu...oubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A,
Full Text Available H01360 Allergic rhinitis Allergic rhinitis (AR) is an inflammation of nasal mucosa... system disease GATA3 (polymorphism) [HSA:2625] [KO:K17895] IL-13 (polymorphism) [HSA:3596] [KO:K05435] IL-18 (polymorphism) [HSA:360
Full Text Available H00482 Brachydactyly, including: type A; type B; type D; type E Brachydactyly comprise...s hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen i... in type E. Brachydactyly is caused by improper development of the bones. Skeleta... gene) Mundlos S The brachydactylies: a molecular disease family. Clin Genet 76:123-36 (2009) PMID:18554391
Full Text Available H00857 Oligodontia-colorectal cancer syndrome Oligodontia-colorectal cancer syndrom...e is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal ...f I, Pirinen S, Nieminen P Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal
Full Text Available H00868 Stapes ankylosis with broad thumb and toes This syndrome is characterized b...Hall CM, Baraitser M ... TITLE ... The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. ... JOURNAL ... Clin Dysmorphol 6:195-203 (1997) ...
Full Text Available lar papillary neoplasms of neuroectodermal origin, accounting for less than 1% of all intracranial tumors and 2-4% of pediatric...905-9 (2012) PMID:21970783 (description) Ogiwara H, Dipatri AJ, Alden TD, Bowman RM, Tomita T Choroid plexus tumors in pediatric
Full Text Available gene) Andersson HC, Kratz L, Kelley R Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet 113:315-9 (2002) ... ...H00617 Desmosterolosis Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congeni...tal malformations including developmental delay, brain malformations, skeletal anom
Full Text Available H00865 Lethal congenital contractural syndrome (LCCS) Lethal congenital contractura...l syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint con... (2008) PMID:17701904 (gene) Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS Lethal congenital cont
Full Text Available H00554 Bicuspid aortic valve Bicuspid aortic valve is the most common congenital he...art defect with strong male predominance. It may arise in isolation or in association with other congenital ...1532774 (gene) Richards AA, Garg V Genetics of congenital heart disease. Curr Cardiol Rev 6:91-7 (2010) PMID
Full Text Available 2] [KO:K11220] PMID:15100664 (description) Rosenzweig SD, Holland SM Phagocyte immunodeficiencies and their infections. J Allergy...t V, Hovhannisyan H, Majzoub J, Miller DT. Genetic diagnosis of primary immune deficiencies. Immunol Allergy...cieties Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120:776-94 (2007) ...
Full Text Available description, drug) Blauvelt A Skin diseases associated with human herpesvirus 6, 7, and 8 infection. J Investig Dermatol Symp Proc 6:197-202 (2001) ... ...-6, 7 and their related diseases. J Dermatol Sci 22:205-12 (2000) PMID:11924827 (...and human herpesvirus 7. New Microbiol 30:173-87 (2007) PMID:10698157 (description, env_factor) Kosuge H HHV
Full Text Available s (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility... polymorphisms in male infertility. ... JOURNAL ... Int J Androl 27:251-6 (2004) DOI:10.1111/j.1365-2605.2004.00...ription , gene) ... AUTHORS ... Cuppens H, Cassiman JJ ... TITLE ... CFTR mutations and
Full Text Available H00282 Cryopyrin associated periodic syndrome (CAPS), including: Muckle-Wells syndr...ome (MWS); Familial cold autoinflammatory syndrome (FCAS); Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome Cryo... (2004) PMID:18665151 Neven B, Prieur AM, Quartier dit Maire P Cryopyrinopathies: update on pathogenesis and
Full Text Available ation, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants are...diagnostics in diabetes mellitus. Clin Chem Lab Med 44:133-7 (2006) PMID:12116173 (environmental factor) Ake...ogy of type 1 diabetes. Am J Med Genet 115:18-29 (2002) PMID:17203405 (environmental factor) Peng H, Hagopia
Full Text Available H00071 Hereditary fructose intolerance; Fructosemia Hereditary fructose intolerance... MeSH: D005633 OMIM: 229600 PMID:16086449 ... AUTHORS ... Wong D ... TITLE ... Hereditary fructose intolerance. ... JOURNAL ... Mol Genet Metab 85:165-7 (2005) DOI:10.1016/j.ymgme.2005.05.001 ...
Full Text Available H00104 Alternative complement pathway component defects, including the following four diseases...primary immunodeficiency diseases. Clin Dev Immunol 13:223-59 (2006) PMID:17952897 (gene) Geha RS, Notarange...hs HD, Puck JM, Roifman C, Seger R, Wedgwood J. Primary immunodeficiency diseases: an update from the Intern
Full Text Available H00541 Uromodulin-associated kidney diseases, including: Medullary cystic kidney di...sease 2; Familial juvenile hyperuremic nephropathy (HNFJ); Glomerulocystic kidney disease Uromodulin-associated kidney diseases... are autosomal dominant tubulointerstitial kidney diseases caused by mutations in the cil
Full Text Available onifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 24:61-5 (2000) ...
Full Text Available H00908 Mowat-Wilson syndrome Mowat-Wilson syndrome (MWS) is a multiple congenital a...[KO:K09299] ICD-10: Q43.1 OMIM: 235730 PMID:17958891 Garavelli L, Mainardi PC Mowat-Wilson syndrome. Orphane...thews RP Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc
Full Text Available H01494 Spondyloepimetaphyseal dysplasia with joint laxity type (SEMD-JL) ; SEMDJL-...Beighton type ; SEMDJL-Leptodactylic or Hall type Spondyloepimetaphyseal dysplasia with joint laxity type is...oepimetaphyseal dysplasia with joint laxity, leptodactylic type. ... JOURNAL ... Am J Hum Genet 89:760-6 (2011) DOI:10.1016/j.ajhg.2011.10.015
Full Text Available H00597 Snyder-Robinson syndrome Snyder-Robinson syndrome (SRS) is an X-linked rece... ... A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robin
Full Text Available H01847 Thrombocytopenia-absent radius syndrome; TAR syndrome Thrombocytopenia-abse...ombocytopenia-Absent Radius (TAR) Syndrome. ... JOURNAL ... ...od 14:374-7 (1959) ... PMID:27981927 (description) ... AUTHORS ... Al-Qattan MM ... TITLE ... The Pathogenesis of Radial Ray Deficiency in Thr
Full Text Available H01025 Familial adenomatous polyposis Familial adenomatous polyposis (FAP) is an au...575] ICD-10: D12.6 MeSH: D011125 OMIM: 175100 608456 PMID:19822006 (description, gene) Half E, Bercovich D, Rozen P Familia
Full Text Available H01264 Hepatic venoocclusive disease with immunodeficiency (VODI) Hepatic venoocclusive disea...ound to be associated with VODI. Immune system disease; Liver disease SP110 [HSA:...are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet 38:620-2 (2006) ...
... Diabetic ketoacidosis Diarrhea Too much acid in the body fluids ( metabolic acidosis ), such as diabetic ketoacidosis Starvation Risks There are no risks with this test. Alternative Names pH - urine Images Female urinary tract PH urine test Male urinary tract References Fogazzi GB, Garigali G. Urinalysis. ...
Full Text Available H01799 Vibratory urticaria; Vibratory angioedema Vibratory urticaria is a rare typ...e of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous an...enship ML, Pruzansky JJ ... TITLE ... Vibratory angioedema: a hereditary type of ph
Full Text Available H01017 Choanal atresia and lymphedema Choanal atresia and lymphoedema is a rare co...orderon ML, Weiss MH ... TITLE ... Choanal atresia and lymphedema. ... JOURNAL ... Ann Otol Rhinol Laryngol 100:661-4 (1991) DOI:10.1177/000348949110000812 ...
Full Text Available ers. Developmental disorder NSD1 [HSA:64324] [KO:K15588] ... Beckwith-Wiedemann syndrome [DS:H00713] is a d..., Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L ... TITLE ... Paradoxical NSD1 mutations in Beckwith-Wiedem
Full Text Available H01611 Alcohol dependence Alcohol dependence (AD) is a chronic but often disease that includes problems...ol even when it causes problems, having to drink more to get the same effect (physical dependence), or havin... in controlling one's drinking, being preoccupied with alcohol, continuing to use alcoh
Full Text Available bowel disease (IBD), most often ulcerative colitis (UC). The clinical presentation is variable. Typical symp...e (IBD) and H01466 ulcerative colitis (UC). ICD-10: K83.0 MeSH: D015209 OMIM: 613806 PMID:26357617 (marker)
Full Text Available H00222 Afibrinogenemia; Dysfibrinogenemia Congenital fibrinogen defects caused by m...utation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencie...s or afibrinogenemia) and qualitative defects (type II deficiencies or dysfibrinogenemia). Fibrinogen defici
Full Text Available H00969 Skeletal defects, genital hypoplasia, and mental retardation This syndrome i...c loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. J Med Genet 45:731-7 (2008) ...
Full Text Available 59978 Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf ... folate malabsorption reveals that Arg 113 is crucial for function. Blood 112:2055-61 (2008) PMID:19508863 Lasry I, Berman B, Glaser
Full Text Available H00369 Exanthema subitum; Roseolovirus infection; Roseola; Pityriasis rosea Human ...ss have been linked to it. Infectious disease ... Human herpesvirus 6B [GN:T40075]...-6, 7 and their related diseases. ... JOURNAL ... J Dermatol Sci 22:205-12 (2000) DOI:10.1016/S0923-1811(99)00086-9 ...
Full Text Available H01133 Reynolds syndrome Reynolds syndrome is a rare disease associating primary b...since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibo...n and connective tissue disease; Digestive disease LBR [HSA:3930] [KO:K19532] ...
Full Text Available H00347 Chlamydia infection, including the following disease: Chlamydial urethritis... Chlamydia trachomatis is a gram-negative, obligate intracellular bacterium that causes the most common sexually transmissible disea...tis can be complicated by acute epididymitis. Infectious disease ... Chlamydia trachomatis [GN:ctr cta ctb ctl
Full Text Available H00091 T-B+Severe combined immunodeficiencies (SCIDs), including the following eight disea...a S, Andre-Schmutz I, Basile Gde S, de Villartay JP, Cavazzana-Calvo M. ... TITLE ... Severe combined immunodeficiency. A model disea
Full Text Available H00917 Congenital dyserythropoietic anemias (CDAs) Congenital dyserythropoietic anemia...ion, gene) ... AUTHORS ... Iolascon A, Russo R, Delaunay J ... TITLE ... Congenital dyserythropoietic anemias. ... J...AUTHORS ... Kamiya T, Manabe A ... TITLE ... Congenital dyserythropoietic anemia. ... JOURNAL ... Int J Hematol 92:432-8 (2010) DOI:10.1007/s12185-010-0667-9 ...
Full Text Available H00237 Diamond-Blackfan anemia (DBA) Diamond-Blackfan anemia (DBA) is a geneticall...Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia...tabley DL, Sol-Church K ... TITLE ... Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneou
Full Text Available H01585 Autoimmune hemolytic anemia (AIHA) Autoimmune hemolytic anemia (AIHA) is a ...cating an underlying disease. AIHA may develop gradually, or have a fulminant onset with life-threatening anemia.... The diagnosis is usually simple, based on the presence of hemolytic anemia
Full Text Available H01642 Renal anemia Renal anemia is one of the most frequent complications of chro...sated for by tachycardia and cardiac hypertrophy, but eventually leads to the development of cardiovascular disease. Renal anemia... human erythropoietin has revolutionized the management of renal anemia, and erythropoiesis-stimulating agen
Full Text Available H01132 Aplastic anemia (AA) Aplastic anemia (AA) is a rare disease in which the re...duction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anem...ia are the consequence of an immune-mediated destruction of hematopoiesis. Autoreac
Full Text Available H01278 Iron-refractory iron deficiency anemia (IRIDA) Iron-refractory iron deficiency anemia...LE ... Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). ... JOURNAL ... Nat Genet 40:569-71 (2008) DOI:10.1038/ng.130 ...
Full Text Available 246 Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C Mutat..., Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakob
Full Text Available rrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER Mutation analysis of...et 82:222-7 (2008) PMID:19261599 (description, gene) Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Bees
Full Text Available H00383 Arthropod-borne viral fevers, including: Oropouche fever; Sandfly fever; Co...ss with abrupt onset of fever, headache, myalgia, anorexia, and photophobia. Infectious disease ... Oropouche... DJ, Wooster MT, Nelson WM, Hayes CG ... TITLE ... Venezuelan equine encephalitis and Oropouche virus infectio... virus [GN:T40062] (Oropouche fever) Colorado tick fever virus [GN:T40063] (Color
Full Text Available H00378 Lyssavirus infection; Rabies-related virus infection Lyssaviruses are a gro...up of viruses that includes rabies virus and other rabies-related bat lyssaviruses. Rabies-related lyssaviru...23] European bat lyssavirus 1 [GN:T40024] European bat lyssavirus 2 [GN:T40025] ... Rabies vaccine [DR:D06504] Rabi
Vorstrup, S; Jensen, K E; Thomsen, C
The intracellular pH in the brain was studied in six healthy volunteers before and immediately after the administration of 2 g of acetazolamide. Phosphorus-31 nuclear magnetic resonance spectroscopy by a 1.5 tesla whole-body scanner was used. The chemical shift between the inorganic phosphate and...
Full Text Available ng laboratory contamination, there are only two clinical reports of B. thuringiensis infection. Both the cas...onkukian (serotype H34) superinfection: case report and experimental evidence of pathogenicity in immunosuppressed mice. ... JOURNAL ... J Clin Microbiol 36:2138-9 (1998)
Full Text Available H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN); Type ...A insulin resistance Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) is an unusual cause of diabetes... (description, gene) ... TITLE ... Diagnosis and classification of diabetes mellitu
Full Text Available H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) C...ongenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-leth...al trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme inv
Full Text Available H00988 Enterokinase deficiency Enterokinase deficiency is autosomal recessive defe..., Moroz SP, Hadorn HB, Sadler JE, Roscher AA ... TITLE ... Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. ... JOURNAL ... Am J Hum Genet 70:20-5 (2002) DOI:10.1086/338456
Full Text Available H01311 Enteroinvasive Escherichia coli (EIEC) infection Enteroinvasive Escherichia... invades intestinal epithelial cells, causing necrosis, ulceration of the mucous membrane, resulting in a dysente...ase ... Escherichia coli (EIEC) ... ICD-10: A04.2 PMID:16182469 ... AUTHORS ... Parsot C ... TITLE ... Shigella spp. and ente
Full Text Available and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. J Clin Invest 118:3881-92 (2008) ... ...alczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Broer A, Rasko JE Iminoglycinuria
Full Text Available H01061 Mansonelliasis Mansonelliasis is one of the filarial nematode infections wid...lla perstans, is transmitted by tiny blood-sucking flies (biting midges). Infections are usually asymptomati...bdominal pain, subcutaneous swellings, eosinophilia, and skin rashes. Infectious disease Mansonella perstans..., Onapa AW, Asio SM Mansonella perstans filariasis in Africa. Acta Trop 120 Suppl 1:S109-20 (2011) ...
Full Text Available H00112 Paratyphoid fever Paratyphoid fever is a systemic febrile illness endemic in developing...ffects those living in developing countries where sanitation is lacking and the access to clean water is red... countries that is a similar to typhoid fever but gives a milder infection. The disease mainly a
Full Text Available H01036 Posterior column ataxia with retinitis pigmentosa (PCARP) Posterior column ataxia...er characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mu...ai T, Tsuji S ... TITLE ... Posterior column ataxia with retinitis pigmentosa in a
Full Text Available H01223 Mental retardation-stereotypic movements-epilepsy and/or cerebral malformati...ons (MRSME); Chromosome 5q14.3 deletion syndrome Mental retardation-stereotypic movements-epilepsy and/or ce...sufficiency of MEF2C is responsible for MRSME. Congenital disorder; Mental retardation; Epilepsy MEF2C [HSA:
Full Text Available H01460 West syndrome; Infantile spasms (IS) West syndrome, or infantile spasms (IS), is an infantil...and new candidate treatments for infantile spasms and early life epileptic enceph...ourth D, Galanopoulou AS ... TITLE ... Modeling new therapies for infantile spasms....E ... A longer polyalanine expansion mutation in the ARX gene causes early infantil
Full Text Available H01371 Hypercalcemia infantile; Idiopathic infantile hypercalcemia Idiopathic infantil... explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia. Inheri... Bindels RJ, Prosser DE, Jones G, Konrad M ... TITLE ... Mutations in CYP24A1 and idiopathic infantile hyperca
Full Text Available disorders and inherited in an autosomal recessive manner. XL-CDS is the creatine transporter (SLC6A8...) deficiency. Inherited metabolic disease; Mental retardation (XL-CDS) SLC6A8 [HSA:6535]...raissant O, Beard E, Torrent C, Henry H ... TITLE ... Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance
Full Text Available ption) Stattin EL, Tegner Y, Domellof M, Dahl N Familial osteochondritis dissecans associated with early osteoarthritis...H00448 Familial osteochondritis dissecans; Osteochondritis dissecans, short stature, and early-onset osteoar...thritis Osteochondritis dissecans is defined as a separation of articular cartilage
Full Text Available R, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. Genetic diagnosis of primary immun...eases. Clin Dev Immunol 13:223-59 (2006) PMID:18424339 (gene) Morra M, Geigenmuller U, Curran J, Rainville I
Full Text Available H00319 Pertussis; Whooping cough Pertussis, or whooping cough, caused by the gram-n...incompletely vaccinated infants. The hallmark symptoms of pertussis are paroxysmal coughing with whooping an...d post-tussive vomiting. Persistent coughing may last for weeks to months with a
Full Text Available ee H00653. ICD-10: Q12.1 MeSH: D004479 OMIM: 129600 225100 PMID:7802039 (description, gene) Edwards MJ, Challinor CJ, Colley PW, Robe...rts J, Partington MW, Hollway GE, Kozman HM, Mulley JC C
Full Text Available H01181 T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) T-ce...ll immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (S...ata C Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia
Full Text Available H01158 Alopecia universalis Alopecia universalis is the most severe form of alopecia...R coding for the Hairless protein are associated with alopecia universalis. It is inherited in autosomal rec...gene coding for hairless protein responsible for alopecia universalis: The import...e gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet 7:1671-9 (1998) ...
Full Text Available H00682 Woodhouse-Sakati syndrome; Hypogonadism, alopecia, diabetes mellitus, mental...ng a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyrami...pecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal sign... retardation, and extrapyramidal syndrome Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alo
Full Text Available 003] [KO:K09448] ICD-10: H35.4 MeSH: C566236 OMIM: 108985 PMID:17339054 (description, gene) Jonas...Res Commun 361:1022-6 (2007) PMID:17683515 (description, gene) Jonasson F, Sander B, Eysteinsson T, Jorgense
Full Text Available ocal, multiple and diffuse lesions, based on degree of unaffected liver parenchyma. Most lesions are clinica...to hemangioendothelioma because the clinical and biologic behavior is similar to infantile hemangiomas (H014...ITLE ... Infantile hepatic hemangiomas: clinical and imaging findings and their correlation with therapy. ...
Full Text Available H00227 Congenital amegakaryocytic thrombocytopenia (CAMT) Congenital amegakaryocyti...enital amegakaryocytic thrombocytopenia. Br J Haematol 146:3-16 (2009) PMID:19327586 Geddis AE Congenital... V, Zecca M, Ferrari S, di Bari F, Corcione A, Di Stazio M, Seri M, Balduini CL Congenital...ematologica 92:1186-93 (2007) PMID:16822462 Geddis AE Inherited thrombocytopenia: Congenital amegakaryocytic
Full Text Available H00838 Congenital fibrosis of the extraocular muscles (CFEOM) Congenital fibrosis o...2 OMIM: 135700 602078 600638 PMID:21217899 (description, gene) Cooymans P, Al-Zuhaibi S, Al-Senawi R, Ganesh A Congenital...) PMID:18214786 (description) Heidary G, Engle EC, Hunter DG Congenital fibrosis of the extraocular muscles.
Full Text Available ger protein, have been reported. Skin and connective tissue disease ZNF750 [HSA:79755] MeSH: C565217 OMIM: 6...erved in the disease. Mutations in ZNF750, which encodes a putative C2H2 zinc fin
Full Text Available H00668 Anemia due to disorders of glutathione metabolism, including: Glucose-6-phos...etase (GCLC) deficiency; Glutathione synthetase (GSS) deficiency Anemia due to disorders of glutathione meta...bolism is a group of red cell disorders caused by inherited abnormality of enzyme
Full Text Available H01286 Microtia hearing impairment and cleft palate (MHICP) Microtia is a congenit...al anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing...HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate. Developmental diso
Full Text Available H01115 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) Polyneuropathy, hea...osomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigme...ring loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, aut
Full Text Available H00597 Snyder-Robinson syndrome Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes... AE, Schwartz CE, Sanchez-Corona J, Garcia-Ortiz JE A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes
Full Text Available H01694 Stevens-Johnson syndrome and toxic epidermal necrolysis; Lyell's syndrome Steve..., Papaliodis DN, Papaliodis GN, Daoud YJ, Ahmed AR, Foster CS ... TITLE ... Stevens-Johnson syndrome and toxic...hogen) ... AUTHORS ... Maciejewska J, Jankowski M, Zegarska B, Czajkowski R ... TITLE ... Stevens-Johnson syndrome
Full Text Available H00432 Hereditary dentine disorders, including the following three diseases: Dentin...e dysplasia, type II; Dentinogenesis imperfecta, types II and III These three disorders comprise a group of ...490 125500 125420 PMID:19021896 Barron MJ, McDonnell ST, Mackie I, Dixon MJ Hereditary dentine disorders
Full Text Available H00608 46,XY disorders of sex development (Disorders in androgen synthesis or actio...n), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS) 46,XY disorders... Domenice S, Arnhold IJ, Costa EM 46,XY disorders of sex development (DSD). Clin ... male sexual differentiation and aetiology of disorders of sex development. Best
Full Text Available H00598 46,XX disorders of sex development (Disorders of gonadal development), inclu... a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. One of the categories of 46,XX DSD is disorder... gene) Kousta E, Papathanasiou A, Skordis N Sex determination and disorders of sex development according to
Full Text Available H00461 FLNB-related disorders, including: ; Atelostogenesis, type I; Boomerang dysp...lasia; Atelosteogenesis, type III; Larsen syndrome The FLNB-related disorders include mild to severe osteoch...ondrodysplasias with congenital joint dislocation. AOI and AOIII are lethal or semilethal disorders. Mutatio...ns in the gene encoding filamin B (FLNB) are associated with these disorders. Ske
Full Text Available H00515 The DTDST-related disorders, including: Achondrogenesis IB (ACG IB); Atelost...eogenesis II (AO II); Diastrophic dysplasia (DTD) The DTDST-related disorders are severe recessive chondrody...splasias including two lethal disorders ACG IB and AO II; and a non-lethal disorder DTD. Patients with these disorders
Full Text Available of cataracts and blue leukocyte inclusion bodies (Doehle-like bodies). Both disorders...iption) Kashtan CE, Segal Y Genetic disorders of glomerular basement membranes. Nephron Clin Pract 118:c9-c1...H, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol 26:549-55 (2011) ...
Full Text Available H00664 Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) de...phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency Anemia due to disorders o...f glycolytic enzymes is a group of red cell disorders caused by inherited abnorma
Full Text Available H00609 46,XY disorders of sex development (Other), including: Persistent Mullerian ...duct syndrome; Hypospadias; Cryptorchidism 46,XY disorders of sex development (46,XY DSD) with other various...onca BB, Domenice S, Arnhold IJ, Costa EM 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf) 70
Full Text Available H00599 46,XX disorders of sex development (Disorders related to androgen excess), i...n lead to 46,XX fetus virilization. Congenital adrenal hyperplasias (CAH) and other genetic disorders in fet...sta E, Papathanasiou A, Skordis N Sex determination and disorders of sex developm
Full Text Available H00530 Joubert syndrome Joubert syndrome and related disorders are a group of multi...ription, gene) Brugmann SA, Cordero DR, Helms JA Craniofacial ciliopathies: A new classification for craniofacial disorders...iccola B, Valente EM Joubert Syndrome and related disorders. Orphanet J Rare Dis
Full Text Available H00059 Huntington's disease (HD) Huntington disease (HD) is an autosomal-dominant ...ood BR, Rubinsztein DC ... TITLE ... Huntington's disease: from pathology and genetics to potential therapies.... AUTHORS ... Gusella JF, Macdonald ME ... TITLE ... Huntington's disease: seeing the pathogenic process through
Full Text Available H01243 Huntington's disease-like syndrome Huntington's disease (HD), which is caus...description, gene) ... AUTHORS ... Schneider SA, Walker RH, Bhatia KP ... TITLE ... The Huntington's disease-like ...syndromes: what to consider in patients with a negative Huntington's disease gene
Full Text Available H00871 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation... (LBSL) Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation...oencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-ty
Full Text Available H00153 Familial combined hyperlipidemia (FCHL) Familial combined hyperlipidemia is ... Naukkarinen J, Ehnholm C, Peltonen L Genetics of familial combined hyperlipidemia. Curr Opin Lipidol 17:285...-90 (2006) PMID:16531745 Lee JC, Lusis AJ, Pajukanta P Familial combined hyperlip...la J, Laakso M, Ehnholm C, Taskinen MR, Peltonen L Familial combined hyperlipidem
Full Text Available H01112 Polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE syndrome Pol...yhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndr...al retardation, gross movement disorders, and childhood mortality. Severe intractable epilepsy and megalence
Full Text Available H01775 PCDH19-related epilepsy syndrome; Early infantile epileptic encephalopathy ...9; Epilepsy with mental retardation limited to females PCDH19-related epilepsy syndrome is a disorder charac...r autistic features manifested exclusively in females. This disorder, first reported as epilepsy
Full Text Available H01808 Hemiconvulsion-hemiplegia-epilepsy syndrome Hemiconvulsion-hemiplegia-epilepsy...erdariu D, Delanoe C, Elmaleh-Berges M, Gressens P, Boespflug-Tanguy O ... TITLE ... Hemiconvulsion-hemiplegia-epilepsy...ohyama J, Adachi Y ... TITLE ... Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mut
Full Text Available H00807 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy... (NFLE) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by noc...M, Verrotti A, Chiarelli F ... TITLE ... Recent advances on autosomal dominant nocturnal frontal lobe epilepsy
Full Text Available H00996 Amish infantile epilepsy syndrome Amish infantile epilepsy syndrome is an a...utosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindn...TD, Platt FM, Crosby AH ... TITLE ... Infantile-onset symptomatic epilepsy syndrome
Full Text Available H01010 Occult macular dystrophy (OMD) Occult macular dystrophy (OMD) is an inherite...nt mutations in RP1L1 are responsible for occult macular dystrophy. Am J Hum Genet 87:424-9 (2010) PMID:2155
Full Text Available H00726 Meesmann corneal dystrophy Meesmann corneal dystrophy is an early-onset disorder of the corneal...M, Ploski R, Szaflik J Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an ... of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. Mol Vis 13:975-80 (2007) ...
Full Text Available H, Boonyaratanakornkit J, Karron RA, Collins PL Progress in the development of human parainfluenza virus vaccine...s. Expert Rev Respir Med 5:515-26 (2011) PMID:18820572 (description) Sato M, Wright PF Current status of vaccine
Full Text Available H00789 Keratoconus Keratoconus is a frequent corneal ectasia characterized by local...isease VSX1 [HSA:30813] [KO:K09335] eye rubbing Fleischer's ring Vogt's striaes Keratoconus can also be foun...antodomingo-Rubido J, Wolffsohn JS Keratoconus: a review. Cont Lens Anterior Eye 33:157-66; quiz 205 (2010)
Full Text Available : 220150 612076 PMID:19926891 Dinour D, Gray NK, Campbell S, Shu X, Sawyer L, Richardson W, Rechavi G, Amari...PMID:21810765 Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamido...C2A9 mutations cause severe renal hypouricemia. J Am Soc Nephrol 21:64-72 (2010)
Full Text Available H00979 Caudal regression syndrome and Sirenomelia Caudal dysgenesis and sirenomelia...itourinary anomalies. The most severe end of this spectrum is known as sirenomelia...Thottungal AD, Charles AK, Dickinson JE, Bower C Caudal dysgenesis and sirenomelia...er Oligny L, Fournet JC Caudal dysgenesis, sirenomelia, and situs inversus totali
Full Text Available H00973 Bradyopsia Bradyopsia is a condition in which patients show a prolonged resp...description, gene) Hartong DT, Pott JW, Kooijman AC Six patients with bradyopsia ...ts in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 427:75-8 (2004) ...
Full Text Available H00355 Leptospirosis Leptospirosis is an emerging zoonotic infection caused by spir...n [DR:D07486] ICD-10: A27 MeSH: D007922 MedlinePlus: 001376 PMID:21874744 (description, drug) Lim VK Leptospirosis: a re-emerging...gunan AP, Shriram AN Leptospirosis: an emerging global public health problem. J B
Full Text Available H01498 Multiple joint dislocations, short stature, craniofacial dysmorphism, and c...ongenital heart defects (JDSSDHD); Larsen-like syndrome Multiple joint dislocations, short stature, craniofa...ondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations
Full Text Available nomalies. The cause of Cenani-Lenz syndactyly syndrome is LRP4, a low-density lipoprotein receptor that modu...lates Wnt signaling. Developmental disorder; Skeletal dysplasia; Kidney disease LRP4...mbler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nurnberg P, Herz J, Temtamy SA, Wollnik B ... TITLE ... LRP4
Full Text Available H00495 Eiken dysplasia Eiken dysplasia is an extremely rare form of epiphyseal dysplasia.... It is caused by a homozygous nonsense mutation in the PTHR1 gene. Skeletal dysplasia PTHR1 [HSA:5745]...ier C Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet 14:1-5 (2005) ...
Full Text Available H01536 Murray Valley encephalitis; Australian encephalitis Murray Valley encephali...tis virus (MVEV) is considered the pathogenic agent of Murray Valley encephalitis (previously known as Australia...n humans and horses. Murray Valley encephalitis is endemic in Northern West Australia...etti S, Salemi M, Ciccozzi M ... TITLE ... Phylogeny of Murray Valley encephalitis virus in Australia and Papu
Full Text Available H01425 Lysosomal storage diseases Lysosomal storage diseases (LSDs) are a group of...yndrome Inherited metabolic disease; Lysosomal storage disease ... (Gaucher dise...THORS ... Heese BA ... TITLE ... Current strategies in the management of lysosomal storage diseases. ... JOURNAL ... ... Berg T. ... TITLE ... Lysosomal Storage Disorders ... JOURNAL ... Lysosomes, edited by Paul Saftig: 60-73
Tijskens, L.M.M.; Biekman, E.S.A.
Based on fundamental chemical relations, well-established in chemical engineering and chemical technology over almost a century, the effects of pH in food and agricultural products will be deduced for different situations and processes. Based on simple equilibria and dissociation of water, salts,
Full Text Available see H00633. MeSH: D004370 OMIM: 607323 147750 PMID:20801148 (gene) ... AUTHORS ... Yuksel D, Orban de Xivry JJ, Lefevre P ... TITLE ... Rev...iew of the major findings about Duane retraction syndrome (DRS) leading to an updat
Full Text Available H01906 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and... pulmonary fibrosis Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fi...ies especially on the face and sun-exposed areas. Scalp hair, eyelashes, and eyebrows are typically sparse. Tendon contracture
Full Text Available ory of intravenous drug abuse. Infectious disease CYBB (Chronic granulomatous disease) [HSA:1536] [KO:K08008] CYBA (Chronic... granulomatous disease) [HSA:1535] [KO:K08009] NCF1 (Chronic granulomatous disease) [HSA:6533...KO:K01977] RecA [KO:K03553] Chronic granulomatous disease is described in H00098. PMID:20826638 (description
Full Text Available H01828 Opsismodysplasia Opsismodysplasia (OPS) is a rare, autosomal-recessive skel...THORS ... Fradet A, Fitzgerald J ... TITLE ... INPPL1 gene mutations in opsismodysplasia. ... JOURNAL ... J Hum Gene...ate phosphatase-like 1 cause opsismodysplasia. ... JOURNAL ... Am J Hum Genet 92:137-43 (2013) DOI:10.1016/j.ajhg.2012.11.011
Full Text Available , and volar edema. It is an allelic disorder of Ehlers-Danlos syndrome kyphoscoliosis type. Connective tissu...e disease hsa00310(5351) Lysine degradation PLOD [HSA:5351] [KO:K00473] Ehlers-Danlos syndrome kyphoscolio...sis type is described in H00802. MeSH: C536113 OMIM: 601451 PMID:15666309 (descript
Full Text Available H01893 Lateral meningocele syndrome; Lehman syndrome Lateral meningocele syndrome ...(LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningocele...r muscle weakness. The characteristic lateral meningoceles represent the severe e
Full Text Available H00262 Spina bifida; Myelomeningocele; Myeloschisis Spina bifida is among the phen...e referred to as either myeloschisis or myelomeningocele. Myelomeningocele is when the spinal cord protrudes...in a cleft spinal cord with the edges flush with the defect. Myelomeningocele is usually associated with a t
Full Text Available isms are also occasional pathogens in healthy children and adults, causing infections such as subacute endoc...h viridans group streptococci in children with cancer. ... JOURNAL ... Pediatr Blood Cancer 49:774-80 (2007) DOI:10.1002/pbc.21250
Full Text Available h narrows the spinal canal and leads to myeloradiculopathy. The lower thoracic spine is most commonly affect...terior longitudinal ligament of spine. ICD-10: M48.8 MeSH: D017887 PMID:21600492 ... AUTHORS ... Sonntag VK ... TI
Full Text Available ID:16786527 (description, gene) Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rains... 60:214-22 (2006) PMID:14718703 (description) Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N,... to chromosome 19q. Neurology 62:87-90 (2004) PMID:12374138 (description, comment) Straussberg R, Shorer Z, Weitz R, Basel
Full Text Available H00252 Congenital nephrogenic diabetes insipidus (NDI) Nephrogenic diabetes insipi...HORS ... Linshaw MA ... TITLE ... Back to basics: congenital nephrogenic diabetes insipidus. ... JOURNAL ... Pediatr...lecular and cellular defects in nephrogenic diabetes insipidus. ... JOURNAL ... Pediatr Nephrol 16:1146-52 (2001) DOI:10.1007/s004670100051
Full Text Available H00455 Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffm...distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD) Spinal...P, Toma M, Cimponeriu D, Gavrila L Spinal muscular atrophy disease: a literature review for therapeutic stra
Full Text Available H00696 Haim-Munk syndrome; Prepubertal periodontitis (PPP) Haim-Munk syndrome is a... rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis... acroosteolysis. Prepubertal periodontitis (PPP) is a rare and rapidly progressiv
Full Text Available H00618 Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT)... Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized b...lla M, MacDougall M DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A 133A:138-41 (2005) ...
Full Text Available J, Bernema Z, Van Bockstaele D, De Raeve H, Schroyens W. Current diagnostic criteria for the chronic myelopr...e disorders. Pathol Biol (Paris) 52:267-74 (2004) (drug) McPhee SJ, Papadakis MA, Tierney LM (ed). Current