41. References For Fanconi Renotubular Syndrome With The MeSH Term References for Fanconi renotubular syndrome with the MeSH term oculocerebrorenal syndrome, G2D Home. PMID and date. Follow the link http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Oculocerebrorenal_Sy

42. Lowe Syndrome LS; OCRL; Oculocerebrorenal Dystrophy; oculocerebrorenal syndrome; RenalOculocerebrodystrophy. Disorder Subdivisions None. General Discussion http://my.webmd.com/hw/health_guide_atoz/nord109.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Lowe Syndrome Important It is possible that the main title of the report Lowe Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebro-Oculorenal Dystrophy Lowe's Disease Lowe-Bickel Syndrome Lowe-Terry-MacLachlan Syndrome LS OCRL Oculocerebrorenal Dystrophy Oculocerebrorenal Syndrome Renal-Oculocerebrodystrophy Disorder Subdivisions None General Discussion Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase.

43. Index Oculocerebral Syndrome with Hypopigmentation Oculocerebrocutaneous Syndrome Oculocerebrorenal Dystrophy oculocerebrorenal syndrome Oculocraniosomatic Syndrome http://my.webmd.com/hw/index/index-topics-O.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... OX OA OAV Spectrum back to top OB Obesity Obrinsky Syndrome Obsessive-Compulsive Disorder (OCD) Obstetric Panel ... back to top OC OCC Syndrome Occipital Horn Syndrome Occlusive Peripheral Vascular Disease Occlusive Thromboaortopathy ... back to top OD ODD Syndrome ODOD Odontogenic Tumor back to top OF OFD Syndrome Office Ergonomics back to top OH Ohio Type Amyloidosis (Type VII) back to top OI OI back to top OL Old Age Pemphigus Oldfield Syndrome Oligohydramnios Sequence Oligophrenia Microphthalmos ... back to top OM Omphalocele-Visceromegaly-Macroglossia Syndrome back to top ON Ondine's Curse Onion-Bulb Neuropathy Onychomycosis Onychoosteodysplasia ... back to top OP OPCA OPD Syndrome Open-angle glaucoma Ophthalmoarthropathy ... Ophthalmoplegia, Painful

44. Connexion Carrier assessment in families with lowe oculocerebrorenal syndrome novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=OCRL

45. Lowe Syndrome LS; OCRL; Oculocerebrorenal Dystrophy; oculocerebrorenal syndrome; RenalOculocerebrodystrophy. Disorder Subdivisions. None. General Discussion. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord109

46. Blackwell Synergy - Cookie Absent hair cysts. Also known as oculocerebrorenal syndrome, it is an Xlinked recessive disorder localized to Xq24-26.1. The phenotypic http://www.blackwell-synergy.com/links/doi/10.1111/j.0736-8046.2004.21112.x/enha

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

47. Blackwell Synergy - Cookie Absent oculocerebrorenal syndrome of Lowe (OCRL) is a rare, multisystem disorder characterized by congenital cataracts, mental retardation, hypotonia and renal http://www.blackwell-synergy.com/links/doi/10.1046/j.1442-200X.2003.01697.x/full

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48. Lowe Sendromlu Bir Olgunun Davranýþ Fenotipine Yaklaþým; Seven Ve Ark. Background. The Lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive hereditary diseases which involves ocular defects, nervous system http://ctf.istanbul.edu.tr/dergi/online/1998v29/s1/981o1.htm

LOWE SENDROMLU BÝR OLGUNUN DAVRANIÞ FENOTÝPÝNE YAKLAÞIM* Mehmet SEVEN, Zuhal SUYUGÜL, Adnan YÜKSEL, Seniha HACIHANEFÝOÐLU, Ahmet AYDIN, Asým CENANÝ Background.- The Lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive hereditary diseases which involves ocular defects, nervous system anomalies and renal dysfunction. The stubborness, temper tantrums and complex repetitive movements (stereotypy) are seen frequently in these patients. Whether these behavior patterns simply reflect the multiple disabilities found in some developmentally impaired irýdividuals with or without Lowe syndrome or is a specific genetically - determined behavioral phenotype of Lowe syndrome is unknown. Observation.- In this paper a 12-year old male patient with Lowe syndrome has been described with behavioral anomalies like stubborness, temper tantrums and stereotypic behaviours. Seven M, Suyugül Z, Yüksel A, Hacýhanefioðlu S, Aydýn A, Cenani A. The approachment to behavioral phenotype of a case with Lowe syndrome. Cerrahpaþa J Med GÝRÝÞ Lowe sendromu (LS), diðer ismiyle okuloserebrorenal sendrom, konjenital katarakt, glokom, nistagmus gibi oküler defektlerin, hipotoni, mental retardasyon, arefleksi gibi sinir sistemi bozukluklarýnýn ve ilerleyici renal tübüler disfonksiyon, asidozis, hiperaminoasidüri gibi renal disfonksiyonlarýn görüldüðü, daha çok beyaz ve sarý ýrkta rastlanan X'e baðlý resesif bir hastalýktýr.

49. Seq1 AsHs878 MRNA1 Gnl UG Hs S417617 Human Fetal Brain seq1 AsHs878 mRNA1 gnl UG Hs S417617 Human fetal brain oculocerebrorenal syndrome (OCRL1) mRNA, complete cds /cds=(177,2882) /gb=U57627 /gi=1420919 /ug=Hs http://166.111.30.65/AsMamDB/Hs/Structure/AsHs878.element.html

50. Associazione Italiana Sindrome Di Lowe Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome novel mutations in the OCRL1 http://aislo.negrisud.it/referenze.html

REFERENZE MEDICO-SCIENTIFICHE Peverall J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet. 2000 Dec;58(6):479-82. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18;95(5):461-6. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16(2):157-65. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000 Mar;69(3):213-22. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000 Feb;48(2):179-90. Harrison M, Odell EW, Sheehy EC. Dental findings in Lowe syndrome. Pediatr Dent. 1999 Nov-Dec;21(7):425-8. Review.

51. Rheumatology -- Hofbauer Et Al. 40 (1): 107 SIR, We describe the unusual diagnosis of Lowe s syndrome (oculocerebrorenal syndrome) in identical twins at age 46 yr, who were referred to our institution http://rheumatology.oupjournals.org/cgi/content/full/40/1/107

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: PDF Version of this Article Email this article to a friend Similar articles found in: Rheumatology Online PubMed PubMed Citation Search PubMed for articles by: Hofbauer, L. C. Heufelder, A. E. Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Other Rheumatology Rheumatology 2001; 40: 107-108 British Society for Rheumatology Letters to the Editor Identical twins with hypercalcaemia due to Lowe's syndrome L. C. Hofbauer C. Nies and A. E. Heufelder Division of Endocrinology and Department of Surgery, Philipps University, Marburg, Germany S IR , We describe the unusual diagnosis of Lowe's syndrome (oculocerebrorenal syndrome) in identical twins at age 46 yr, who were referred to our institution for evaluation of hypercalcaemia and bone pain. Two 46-yr-old identical twin brothers presented with a 1-yr history of hypercalcaemia. Both had grown up in a foster care family and had required chronic haemodialysis for end-stage kidney disease of unknown aetiology for 9 and 10 yr, respectively.

52. Fanconi's Syndrome Oxidase deficiency; oculocerebrorenal syndrome of Lowe. Acquired form Multiple Myeloma; Nephrotic Syndrome; Chronic tubulointerstitial http://www.fpnotebook.com/REN129.htm

Home About Links Index ... Editor's Choice document.write(code); Advertisement Nephrology Tubule Assorted Pages Fanconi's Syndrome Fanconi Syndrome Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Nephrology Index Acid and Base Disorders Calcium Chloride Cardiovascular Medicine Dermatology Edema Endocrinology Examination Failure Glomerulus Laboratory General Pulmonology Magnesium Neurology Pharmacology Phosphorus Potassium Radiology Sodium Surgery Tubule Page Tubule Index Fanconi Syndrome Pathophysiology Deficient Renal Tubular excretion Results in Aminoaciduria Glycosuria Hypophosphatemia Causes Hereditary Idiopathic (Autosomal Dominant) Dent Disease X-linked hypophosphatemic rickets X-linked recessive Nephrolithiasis Cyst inosis (Autosomal recessive) Tyrosinemia type I (Autosomal recessive) Resolves with Tyrosine, Phenylalanine restriction

53. Lowes Syndrom - Små Och Mindre Kända Handikappgrupper Litteratur. Chamas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. Charnas LR, Nussbaum R. The oculocerebrorenal syndrome of Lowe (Lowe Syndrome). http://www.sos.se/smkh/2000-29-123/2000-29-123.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Lowes syndrom Okulo-cerebro-renalt syndrom Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 2000-11-01 HTML-version 1.1 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Epilepsin behandlas med anti-epileptisk medicin. Praktiska tips Resurspersoner Kurser, erfarenhetsutbyte, rekreation info@lowesyndrome.org

54. Disease, Medication, Symptom Etc Database Index : O Diseases Database syndrome see Behcet s disease Oculocerebral syndrome see Lowe s syndrome Oculocerebrocutaneous syndrome oculocerebrorenal syndrome see Lowe s syndrome http://www.diseasesdatabase.com/disease_index_o.asp

Diseases Database Index Sponsors Contact ... Previous Page Disease, medication, symptom etc database index : O Search see Oxygen OA see Osteoarthritis Oasthouse urine disease see Methionine malabsorption OAT deficiency see Ornithine ketoacid transaminase deficiency Obesity Oblimersen Obliterative bronchiolitis see Bronchiolitis obliterans Obnubilation see Brain failure O'Brien's granuloma see Actinic granuloma Obstetric condition Obstetric shock see Puerperal shock Obstructive jaundice see Cholestatic jaundice Obstructive nephropathy see Hydronephrosis Obstructive sleep apnoea Obturator hernia Occipital horn syndrome Occult blood in stools see Faecal occult blood positive O-chlorobenzylidine malononitrile see CS gas Ochoa syndrome Ochronosis see Alkaptonuria Ockelbo disease see Sindbis virus Octapressin see Felypressin Octopressin see Felypressin Octreotide see Somatostatin Octylcyanoacrylate Ocular albinism type 1 Ocular cicatrical pemphigoid see Cicatricial pemphigoid Ocular hypertelorism see Hyperteliorism, ocular Ocular hypertension see Raised intraocular pressure Ocular larva migrans Ocular movement abnormality Ocular-ophthalmoplegia, sympathetic see Horner's syndrome Oculoauricular vertebral dysplasia see Goldenhar syndrome Oculoauriculovertebral syndrome see Goldenhar syndrome Oculobuccogenital syndrome see Behcet's disease Oculocerebral syndrome see Lowe's syndrome Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome see Lowe's syndrome Oculocutaneous albinism (tyrosinase negative) Oculocutaneous albinism (tyrosinase positive) Oculocutaneous albinism type 1 see Oculocutaneous albinism (tyrosinase negative) Oculocutaneous albinism type 2

55. Diagnosis - Hypotrichosis Table LouisBar syndrome, Ataxia telangiectasia, 208900. Lowe syndrome, oculocerebrorenal syndrome, 309000. Marasmus, oculocerebrorenal syndrome, Lowe syndrome, 309000. http://www.keratin.com/ab/ab005.shtml

hypotrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving a lack of hair growth (hypotrichosis) as a primary symptom List of disorders involving a lack of hair growth (hypotrichosis) as a secondary symptom Introduction The tables below records disorders known to involve hypotrichosis. The first table lists disorders where hypotrichosis is a primary symptom. The second table lists disorders where hypotrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health or life threatening. Many of these conditions involving hypotrichosis as a secondary symptom are ectodermal dysplasias. The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. Some dermatologists will disagree with my listing. You may find some disorders in both the alopecia and hypotrichosis listings. This is not necessarily a complete list of disorders involving hypotrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.

56. Definitions Of Genetic Disorders-O osh.htm Oculocerebrocutaneous Syndrome occs.htm OculoCerebro-Renal lowe.html Oculocerebrorenal Dystrophy cor.htm oculocerebrorenal syndrome cor.htm http://www.icomm.ca/geneinfo/def-o.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter O Click on the link next to the disorder to view its definition. OAV Spectrum goldenhar.htm Obstructive Apnea apnea.htm Obstructive Hydrocephalus hydroceph.htm Obstructive Sleep Apnea slpapn.htm OCC Syndrome occs.htm Occlusive Thromboaortopathy taka.htm OCCS occs.htm Occult Intracranial Vascular Malformations vasmalbrain.htm Occult Spinal Dysraphism Sequence tscs.htm Ochoa Syndrome ochoa.htm Ochronosis alkap.htm Ochronotic Arthritis alkap.htm OCR lowe.html OCRL cor.htm Octocephaly octoc.htm Ocular Albinism albinism.htm Ocular Herpes corndyst.htm Ocular Myasthenia Gravis myasgrav.htm Oculo-Auriculo-Vertebral Dysplasia goldenhar.htm

57. Lowe's Syndrome,Cerebro-Oculorenal Dystrophy,Lowe-Bickel Syndrome,Lowe-Terry-Mac Dystrophy,LoweBickel Syndrome,Lowe-Terry-MacLachlan Syndrome,LS,OCRL,Oculocerebrorenal Dystrophy,oculocerebrorenal syndrome,Renal-Oculocerebrodystrophy,Lowe s http://www.icomm.ca/geneinfo/cor.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Lowe Syndrome also known as: Cerebrooculorenal Dystrophy Cerebro-Oculo-Renal Dystrophy Lowe-Bickel Syndrome Lowe-Terry-MacLachlan Syndrome LS OCRL Oculocerebrorenal Dystrophy Oculocerebrorenal Syndrome Renal-Oculocerebrodystrophy (as defined by the National Organization for Rare Disorders Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase.

58. Stoornissen Betreffende De Ogen Lowe oculocerebrorenal syndrome OMIM 309000 OMIM Clinical Synopsis; Neurofibromatosis type I OMIM 162200 OMIM Clinical Synopsis; http://www.homepages.hetnet.nl/~b1beukema/ziekogen.html

Aangeboren stoornissen betreffende de ogen Retinitis Pigmentosa and Stationary Night Blindness: Retinits Pigmentosa; RP OMIM: OMIM: Clinical Synopsis e-Medicine: Retinitis Pigmentosa GeneReviews: Retinitis Pigmentosa Overview Choroideremia: Choroideremia OMM: OMIM: Clinical Synopsis EyeAtlas: Choroideremia GeneReviews: Choroideremia Leber Congenital Amaurosis: Leber congenital amaurosis, Type I; LCA1 OMM: OMIM: Clinical Synopsis Who named it?: Theodor Karl Gustav Leber Color Vision and Its Genetic Defects: Red-Green defects Protanopia ( Red colorblindness ) OMM: OMIM: Clinical Synopsis Deuteranopia ( Green colorblindness ) OMM: OMIM: Clinical Synopsis Blue-Yellow defects: Tri tanopia ( Blue collorblindness ) OMM: OMIM: Clinical Synopsis Tri tanomalous collorblindness OMM: OMIM: Clinical Synopsis Achromatopsias: Achromatopsia 1 Synoniemen: Rod Monochromatism 1 OMM: Achromatopsia 2 Synoniemen: Total Colorblindness; Rod Monochromatism 2 OMM: OMIM: Clinical Synopsis Achromatopsia 3 Synoniemen: Total Colorblindness with myopathy OMM: OMIM: Clinical Synopsis Blue cone monochromatism OMM: OMIM: Clinical Synopsis Norrie Disease: Norrie disease Synoniemen: Pseudoglioma; Atrophia Bulborum Hereditaria; Episkopi blindness

59. List Of Rare Diseases Starting With O hypopigmentation; Oculocerebrocutaneous syndrome; oculocerebrorenal syndrome; Oculocutaneous albinism immunodeficiency; Oculocutaneous http://www.fact-index.com/l/li/list_of_rare_diseases_starting_with_o.html

Main Page See live article Alphabetical index List of rare diseases starting with O This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... N O P Q R S ... Z O Doherty syndrome O Donnell Pappas syndrome Obesity Obesophobia Obsessive-compulsive disorder Obstructive asymmetric septal hypertrophy Occipital horn syndrome Occlusive Infantile ateriopathy Occult spinal dysraphism Occupational Asthma - Chemicals Occupational Asthma - Metals Occupational Asthma - Plants Occupational Asthma - Wood dust Occupational Asthma-Drugs OCD Ochoa syndrome Ochronosis, hereditary Ochronosis Ocular Albinism Ocular coloboma-imperforate anus Ocular convergence spasm Ocular Histoplasmosis Ocular melanoma Ocular motility disorders Ocular toxoplasmosis Oculo cerebral dysplasia Oculo cerebro acral syndrome Oculo cerebro osseous syndrome Oculo dento digital dysplasia Oculo digital syndrome Oculo facio cardio dental syndrome Oculo skeletal renal syndrome Oculo tricho anal syndrome Oculo tricho dysplasia Oculoauriculofrontonasal syndrome Oculoauriculovertebral dysplasia Oculocerebral hypopigmentation syndrome Cross type Oculocerebral hypopigmentation syndrome type Preus Oculocerebral syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism immunodeficiency Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism, tyrosinase negative

60. List Of Rare Diseases Starting With L dysgammaglobulinemia; Lowe Kohn Cohen syndrome; Lowe oculocerebrorenal syndrome; Lowe syndrome; Lower limb anomaly ureteral obstruction; http://www.fact-index.com/l/li/list_of_rare_diseases_starting_with_l.html

Main Page See live article Alphabetical index List of rare diseases starting with L This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... K L M N O P ... Z Labrador lung Labyrinthitis syndrome Lachanophobia Lachiewicz Sibley syndrome Lacrimo-auriculo-dento-digital syndrome Lactate dehydrogenase deficiency type A Lactate dehydrogenase deficiency type B Lactate dehydrogenase deficiency type C Lactate dehydrogenase deficiency Lactic acidosis congenital infantile Ladda Zonana Ramer syndrome Lafora disease Lagophthalmia cleft lip palate Lambdoid synostosis familial Lambert syndrome Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton paraneoplastic cerebellar degeneration) Lambert-Eaton syndrome Lamellar ichthyosis Lamellar recessive ichthyosis Landau-Kleffner syndrome Landouzy-Dejerine muscular dystrophy Landy Donnai syndrome Langdon Down Langer Nishino Yamaguchi syndrome Langer-Giedion syndrome Langerhans cell granulomatosis Langerhans cell histiocytosis Laparoschisis Laplane Fontaine Lagardere syndrome Large B cell diffuse lymphoma Laron-type dwarfism Larsen like osseous dysplasia dwarfism Larsen like syndrome lethal type Larsen syndrome craniosynostosis Larsen syndrome, dominant type

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