41. Zellweger Syndrome ATPBinding Cassette, Subfamily D, Member 3; ABCD3 261510 Peroxisomal 3-Oxoacyl-CoaThiolase Deficiency 214110 cerebrohepatorenal syndrome, Variant Types. http://ibis-birthdefects.org/start/ukrainian/uzellweg.htm

Please set browser to encoding in cyrillic) (Öåðåáðî-ãåïàòî-ðåíàëüíèé ñèíäðîì, Zellweger Syndrome) Ïðî I.B.I.S. " íîâèíàõ" Ïðèºäíàéòåñü äî I.B.I.S. Ôåíîòèïîâ³ ïðîÿâè ñèíäðîìó Öåëüâåãåðà ñïðè÷èíÿþòüñÿ ìóòàö³ÿìè ó ãåíàõ, ïðè÷åòíèõ äî ïåðîêñèñîìíîãî á³îãåíåçó, òàêèìè ÿê peroxin-5 (PEX5; 600414), peroxin-2 (PEX2; 170993), peroxin-6 (PEX6; 601498), and peroxin-12 (PEX12; 601758), ÿê³ êàðòîâàí³ íà õðîìîñîìàõ 12 (PEX5), 8 (PEX2), òà 6 (PEX6). Ìóòàö³¿ ó ãåí³ PEX1 (602136), ÿêèé êàðòîâàíèé íà 7q21-q22, ³äåíòèô³êîâàí³ ó âèïàäêàõ ñèíäðîìó Öåëüâåãåðà, ãðóïà 1. Çìåíøåííÿ ê³ëüêîñò³ ïåðîêñèñîì, çíèæåííÿ àêòèâíîñò³ ¿õ ôåðìåíò³â çóìîâëþº ïîøêîäæåííÿ ¿õ êîìïëåêñíî¿ ìåòàáîë³÷íî¿ ôóíêö³¿ ("ïåðîêñèñîìíå äèõàííÿ", ó÷àñòü ó ìåòàáîë³çì³ æèðíèõ êèñëîò, ñèíòåç³ ïëàçìàëîãåí³â). Óðàæåííÿ âíóòð³øí³õ îðãàí³â òà ñèñòåì õàðàêòåðèçóþòüñÿ âèðàæåíîþ ð³çíîìàí³òí³ñòþ òà ñòóïåíåì âàæêîñò³. Çì³íè ó ÖÍÑ çóìîâëåí³ ïîðóøåííÿì ì³ãðàö³¿ íåéðîí³â íà 3 ì³ñÿö³ âàã³òíîñò³, ùî ïðèçâîäèòü äî ïîðóøåííÿ öèòîàðõ³òåêòîí³êè ìîçêó, ñïîñòåð³ãàºòüñÿ çàòðèìêà 쳺ë³í³çàö³¿ íåéðîí³â, íàêîïè÷åííÿ ë³ï³ä³â. Ó òêàíèíàõ çá³ëüøóºòüñÿ ê³ëüê³ñòü æèðíèõ êèñëîò ç äîâãèì âóãëåöåâèì ëàíöþãîì (Ñ24-30). Âì³ñò ïëàçìàëîãåí³â çíèæåíèé. Aóòîñîìíî-ðåöåñèâíèé òèï óñïàäêóâàííÿ.

42. MEDLINE Abstract This degradation normally takes place in a subcellular organelle called the peroxisome,and ALD, together with Zellweger's cerebrohepatorenal syndrome, is now http://www.uptodate.com/patient_info/topicpages/abstrcts/Abstrx11/581684.htm

TI - Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. SO - Ann Neurol 1984 Dec;16(6):628-41

43. DINO - Language: Englisch - Health - Conditions And Diseases - C Link verweist auf eine HauptKategorie Cerebrocostomandibular Syndrome Dieser Linkverweist auf eine Haupt-Kategorie cerebrohepatorenal syndrome Dieser Link http://www.dino-online.de/dino_page_4d8b50989e03b07a158309b4ee7d1dc4.html

Suche Profi-Suche Katalog Video ... Produkte Suchen: Web-Seiten Video Audio Bilder Produkte Schon gewusst? Hier suchen Sie in 2 Milliarden Webseiten. Live-Suche: Was suchen andere Dino-Besucher? You are here: DINO Language Englisch Health ... Conditions and Diseases C C Sprache/Language Categories Campylobacter Pylori Canavan Disease Cancer Candida Cardiomyopathy Carpal Tunnel Syndrome Cat-Scratch Disease Cataracts Causalgia Celiac Disease Central Pontine Myelinolysis Cerebellar Diseases Cerebellar Vermis Agenesis Cerebral Abscess Cerebral Edema Cerebral Gigantism Cerebral Palsy Cerebrocostomandibular Syndrome Cerebrohepatorenal Syndrome Cerebrotendinous Xanthomatosis Cervical Cancer Charcot-Marie-Tooth Disease Chicken Pox Childhood Depression Chlamydia Cholera Cholesteatoma Cholesterol and Other Fats Chondromalacia Chromosomal Disorders Chromosome 5p-Syndrome Chronic Fatigue Syndrome Chronic Obstructive Pulmonary Disease Chronic Progressive External Ophthalmoplegia Circulation Disorders Cleft Lip and Palate Cleidocranial Dysplasia Clubfoot Coccidioidomycosis Cockayne Syndrome Coffin Lowry Syndrome Cold Sores Colitis Common Cold Communication Disorders Complex Regional Pain Syndromes Compulsive Gambling Congenital Arthromyodysplasia Congenital Facial Diplegia Congenital Heart Disease Congenital Nephroblastoma Congenital Pain Insensitivity Conjunctivitis Constipation Continuous Muscle Fiber Activity Syndrome Contraception Conversion Disorder Cor Pulmonale Cornelia De Lange Syndrome Coronary Artery Disease

44. Browse By Letter 'C' venoocclusive disorder Cerebral ventricle Cerebritis Cerebrocostomandibular syndromecerebrohepatorenal syndrome (Volume VI 1) cerebrohepatorenal syndrome http://eu.amershamhealth.com/medcyclopaedia/indexc.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Entry words starting with C C1 vertebra C2 vertebra Cad Cadasil ... Cytotoxic oedema (Volume VII) Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

45. Dorlands Medical Dictionary syndrome (Zell·weg·er syndrome) (zel¢wegschwar) Hans Ulrich Zellweger, Americanpediatrician, born 1909 cerebrohepatorenal syndrome; see under syndrome http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

46. Dorlands Medical Dictionary a cyclic amino acid occurring as an intermediate in a minor pathway of lysine degradationand at elevated levels in blood in cerebrohepatorenal syndrome and in http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

47. Rare Diseases List - Office Of Rare Diseases gov. Disease Zellweger syndrome. Synonyms cerebrohepatorenal syndrome.CHR. ZWS. ZS. Zellweger leukodystrophy. Disease Information. PubMed http://ord.aspensys.com/diseaseinfo.asp?ID=7917

48. Index 106, 284 Cauda equina lesion, 265 Central core disease, 146 Cephalohematoma, 106,285 Cerebral infarction, 55 cerebrohepatorenal syndrome, 113, 160 Cerebro http://pediatricneuro.com/alfonso/pg311.htm

MainMenu Back A B C D ... W X Y Z A Top Abducens nerve palsy Moebius syndrome, Abscess Abuse, Acid maltase deficiency, Acidemia argininosuccinic, glutaric, type isovaleric, methylmalonic, propionic, Acidosis, lactic, Acute bilirubin encephalopathy, Acyclovir, Adrenoleukodystrophy (neonatal), Agenesis of the corpus callosum, Agenesis of the depressor angularis oris, Agyria, lissencephaly, Aicardi syndrome, Alexander disease, Alloisoleucine, Alpha motor neuron, diseases, Amino acid metabolism disorder, branched-chain amino acids, hyperglycinemia, leucine, urea synthesis, Amniotic band, Ammonia metabolism, Arm monoparesis, Amyoplasia congenita, Antley-Bixler syndrome, Antibiotics for meningitis, Anticonvulsant fetal syndrome, Antiepileptic drugs, Antithrombin III deficiency, Aplasia cutis congenita

49. Awards cerebrohepatorenal syndrome A Defect in Oxidative Metabolism. 1973.K. Iqbal, I. GrundkeIqbal, ML Shelanski and I. Tellez-Nagel. http://www.aanp-jnen.com/Awards.htm

NEUROPATHOLOGY AWARDS Awards for Meritorious Contributions to Neuropathology Weil Award for Best Paper on Experimental Neuropathology Presented at the Annual Meeting Moore Award for Best Paper on Clinico-Pathological Correlation Presented at the Annual Meeting Rubinstein Award for Best Paper on Neuro-oncology Presented at the Annual Meeting Awards for Meritorious Contributions to Neuropathology Year Name Armando Ferraro Arthur Weil Joseph Globus George Hassin Paul Yakovlev Abner Wolf Harry Zimmerman Webb Haymaker James Kernohan George Jervis Raymond Adams David Cowen Matthew Moore Richard Lindenberg Orville Bailey Margaret Murray Kenneth Earle Leon Roizin Nathan Malamud Martin Netsky No Award Presented E. P. Richardson, Jr. F. Stephen Vogel Lucien J. Rubinstein Robert D. Terry Ellsworth C. Alvord, Jr Lysia K. S. Forno John Moossy Gabriele M. Zu Rhein Peter Lampert Elias Manuelidis Murray Bornstein Lowell Lapham Samuel Hicks Asao Hirano Amico Bignami Franz Seitelberger Pasquale Cancilla Henryk M Wisniewski Richard L. Davis Wolfgang Zeman Lucy B. Rorke

50. Linkage.rockefeller.edu/wli/omim/auto_rec.txt NONARTERIOSCLEROTIC *213700 CEREBROTENDINOUS XANTHOMATOSIS *213980 CEREBROFACIOTHORACICDYSPLASIA *214110 cerebrohepatorenal syndrome, VARIANT TYPES http://linkage.rockefeller.edu/wli/omim/auto_rec.txt

*200150 : CHOREOACANTHOCYTOSIS; CHAC *200350 : ACETYL-CoA CARBOXYLASE DEFICIENCY *200400 : ACHALASIA, FAMILIAL ESOPHAGEAL *200500 : ACHEIROPODY *200600 : ACHONDROGENESIS, TYPE IA; ACG1A *200990 : ACROCALLOSAL SYNDROME; ACLS *201000 : ACROCEPHALOPOLYSYNDACTYLY TYPE II *201100 : ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ *201300 : ACROOSTEOLYSIS, NEUROGENIC *201400 : ACTH DEFICIENCY *201450 : ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM *201460 : ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF *201470 : ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS *201475 : ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF *201550 : ADDUCTED THUMBS SYNDROME *201810 : ADRENAL HYPERPLASIA II *201910 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY *202010 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-@BETA-HYDROXYLASE DEFICIENCY *202110 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY *202200 : ADRENAL UNRESPONSIVENESS TO ACTH *202500 : SEVERE COMBINED IMMUNODEFICIENCY 1; SCID1 *203100 : ALBINISM I *203200 : ALBINISM II *203300 : HERMANSKY-PUDLAK SYNDROME; HPS *203500 : ALKAPTONURIA *203650 : ALOPECIA-MENTAL RETARDATION SYNDROME *203700 : ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS *203740 : ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY *203750 : ALPHA-METHYLACETOACETICACIDURIA *203800 : ALSTROM SYNDROME; ALMS1 *204200 : CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 *204300 : CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4 *204400 : AMAUROTIC IDIOCY, CONGENITAL FORM *204500 : CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 *204600 : AMAUROTIC IDIOCY, LATE INFANTILE TYPE, WITH MULTILAMELLAR CYTOSOMES *204700 : AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE *204800 : AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF *205100 : AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 *205200 : AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA *206500 : ANENCEPHALY *206570 : ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT *206700 : ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY *206780 : ANODONTIA, COMPLETE, OF PERMANENT DENTITION *206800 : ANONYCHIA *206900 : ANOPHTHALMOS, TRUE OR PRIMARY *206920 : ANOPHTHALMOS WITH LIMB ANOMALIES *207410 : ANTLEY-BIXLER SYNDROME; ABS *207750 : APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO *207800 : ARGININEMIA *207900 : ARGININOSUCCINICACIDURIA *208000 : ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY *208060 : ARTERIOSCLEROSIS, SEVERE JUVENILE *208100 : ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN *208150 : PENA-SHOKEIR SYNDROME, TYPE I *208200 : ARTHROGRYPOSIS-LIKE DISORDER *208230 : ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC *208250 : ARTHROPATHY-CAMPTODACTYLY SYNDROME *208400 : ASPARTYLGLUCOSAMINURIA *208500 : ASPHYXIATING THORACIC DYSTROPHY; ATD *208750 : ATAXIA, DEAFNESS, AND CARDIOMYOPATHY *208800 : PYRUVATE DECARBOXYLASE DEFICIENCY *208900 : ATAXIA-TELANGIECTASIA; AT *208905 : ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP D; ATD; ATDC *209100 : ATONIC-ASTATIC SYNDROME OF FOERSTER *209900 : BARDET-BIEDL SYNDROME, TYPE 2; BBS2 *209901 : BARDET-BIEDL SYNDROME, TYPE 1; BBS1 *210100 : BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF *210200 : BETA-METHYLCROTONYLGLYCINURIA I *210250 : SITOSTEROLEMIA *210370 : BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY *210600 : BIRD-HEADED DWARFISM *210710 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I *210720 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II *210730 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III *210900 : BLOOM SYNDROME; BLM *211100 : FUCOSYLTRANSFERASE 1; FUT1 *211180 : BOWEN HUTTERITE SYNDROME *211350 : BOWING, CONGENITAL, WITH SHORT BONES *211390 : BRITTLE HAIR AND MENTAL DEFICIT *211410 : BREAST CANCER, DUCTAL, 1; BRCD1 *211420 : BREAST CANCER, DUCTAL, 2; BRCD2 *211500 : BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD *211530 : BULBAR PALSY, PROGRESSIVE, WITH PERCEPTIVE DEAFNESS *211750 : C SYNDROME *211890 : CAMPOMELIA, CUMMING TYPE *211900 : CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA *211960 : CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES *212050 : CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS; FCMC *212130 : CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH *212138 : CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT *212160 : CARNITINE DEFICIENCY, MYOPATHIC *212200 : CARNOSINEMIA *212350 : CATARACT AND CARDIOMYOPATHY *212400 : CATARACT AND CONGENITAL ICHTHYOSIS *212500 : CATARACT, CONGENITAL OR JUVENILE *212780 : CENANI SYNDACTYLISM *212840 : CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM *212895 : CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA *213000 : CEREBELLAR HYPOPLASIA *213100 : CEREBELLOPARENCHYMAL DISORDER II; CPD II *213200 : CEREBELLAR ATAXIA 1; CLA1 *213300 : CEREBELLOPARENCHYMAL DISORDER IV; CPD IV *213600 : CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC *213700 : CEREBROTENDINOUS XANTHOMATOSIS *213980 : CEREBROFACIOTHORACIC DYSPLASIA *214110 : CEREBROHEPATORENAL SYNDROME, VARIANT TYPES *214370 : NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS *214400 : CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A *214500 : CHEDIAK-HIGASHI SYNDROME; CHS1 *214900 : CHOLESTASIS-LYMPHEDEMA SYNDROME *214950 : CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE METABOLISM OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID *215400 : CHORDOMA *215470 : CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM *215500 : CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD *215520 : CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES *216340 : CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA *216400 : COCKAYNE SYNDROME, TYPE I; CKN1 *216550 : COHEN SYNDROME; COH1 *216700 : COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; RPC *216950 : COMPLEMENT COMPONENT C1r DEFICIENCY *217000 : COMPLEMENT COMPONENT 2 DEFICIENCY *217030 : I FACTOR; IF *217050 : COMPLEMENT COMPONENT 6 DEFICIENCY *217070 : COMPLEMENT COMPONENT 7 DEFICIENCY *217300 : CORNEA PLANA 2; CNA2 *217400 : CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS *217500 : CORNEAL DYSTROPHY, BAND-SHAPED *217700 : CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2 *217800 : MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 *218000 : CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY *218030 : CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY *218040 : COSTELLO SYNDROME *218100 : CRANIAL NERVES, CONGENITAL PARESIS OF *218330 : CRANIOECTODERMAL DYSPLASIA *218400 : CRANIOMETAPHYSEAL DYSPLASIA, RECESSIVE TYPE *218900 : CROME SYNDROME *219000 : CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS *219100 : CUTIS LAXA *219150 : CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION *219500 : CYSTATHIONINURIA *219800 : CYSTINOSIS, NEPHROPATHIC; CTNS *220111 : LEIGH SYNDROME, FRENCH-CANADIAN TYPE *220120 : D-GLYCERICACIDEMIA *220150 : DALMATIAN HYPOURICEMIA *220210 : DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT *220500 : DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM *221300 : DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR *221350 : DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA *221650 : DEAFNESS, NEURAL, PROGRESSIVE CHILDHOOD TYPE *221770 : POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL *221800 : DERMOCHONDROCORNEAL DYSTROPHY *221900 : DETACHMENT OF RETINA, CONGENITAL *222100 : DIABETES MELLITUS, INSULIN-DEPENDENT, 1; IDDM1 *222300 : WOLFRAM SYNDROME *222600 : DIASTROPHIC DYSPLASIA; DTD *222690 : DIBASICAMINOACIDURIA I *222745 : 2,4-@DIENOYL-CoA REDUCTASE; DECR *222748 : DIHYDROPYRIMIDINASE; DPYS *222800 : DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE *222900 : DISACCHARIDE INTOLERANCE I *223000 : LACTASE DEFICIENCY, CONGENITAL *223100 : DISACCHARIDE INTOLERANCE III *223360 : DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH *223370 : DUBOWITZ SYNDROME *223800 : DYGGVE-MELCHIOR-CLAUSEN DISEASE *223900 : DYSAUTONOMIA, FAMILIAL; DYS *224050 : DYSEQUILIBRIUM SYNDROME; DES *224100 : ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2 *224120 : ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; CDAN1 *224300 : DYSOSTEOSCLEROSIS *224500 : DYSTONIA MUSCULORUM DEFORMANS 2; DYT2 *224690 : EAR, PATELLA, SHORT STATURE SYNDROME *224750 : SCHOPF-SCHULZ-PASSARGE SYNDROME *225000 : ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION *225060 : ECTODERMAL DYSPLASIA, TYPE 4; ED4 *225200 : ECTOPIA LENTIS WITH ECTOPIA OF PUPIL *225250 : ECTOPIC THYROID WITH HYPOTHYROIDISM *225280 : EEM SYNDROME *225410 : EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE *225500 : ELLIS-VAN CREVELD SYNDROME; EVC *225750 : ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH CALCIFICATION OF BASAL GANGLIA AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS *225790 : ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV *226200 : ENTEROKINASE DEFICIENCY *226300 : ENTEROPATHY, PROTEIN-LOSING *226450 : EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA *226500 : EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA *226750 : EPILEPSY AND YELLOW TEETH *226900 : EPIPHYSEAL DYSPLASIA, MULTIPLE *226960 : EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS *226980 : EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS *227090 : ERYTHRODERMA, LETHAL CONGENITAL *227150 : ETHANOLAMINOSIS *227220 : EYE COLOR 3; EYCL3 *227240 : EYE COLOR 1; EYCL1 *227260 : FACIAL ECTODERMAL DYSPLASIA *227330 : FACIODIGITOGENITAL SYNDROME, RECESSIVE *227400 : FACTOR V DEFICIENCY *227500 : FACTOR VII DEFICIENCY *227600 : FACTOR X DEFICIENCY *227645 : FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC *227646 : FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD *227650 : FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA *227660 : FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB *228000 : FARBER LIPOGRANULOMATOSIS *228100 : FATTY METAMORPHOSIS OF VISCERA *228250 : FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY *228520 : FIBROCHONDROGENESIS *228600 : FIBROMATOSIS, JUVENILE HYALINE *228900 : FIBULA APLASIA AND COMPLEX BRACHYDACTYLY *228960 : FLAUJEAC FACTOR DEFICIENCY *229000 : FLETCHER FACTOR DEFICIENCY *229050 : FOLIC ACID, TRANSPORT DEFECT INVOLVING *229100 : FORMIMINOTRANSFERASE DEFICIENCY *229200 : FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY *229300 : FRIEDREICH ATAXIA 1; FRDA *229400 : FRONTOFACIONASAL DYSOSTOSIS *229500 : FRUCTOSE AND GALACTOSE INTOLERANCE *229600 : FRUCTOSE INTOLERANCE, HEREDITARY *229700 : FRUCTOSE-1,6-BISPHOPHATASE 1; FBP1 *229800 : FRUCTOSURIA *229850 : FRYNS SYNDROME; FRNS *230000 : FUCOSIDOSIS *230200 : GALACTOKINASE DEFICIENCY *230350 : GALACTOSE EPIMERASE DEFICIENCY *230400 : GALACTOSEMIA *230450 : GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO *230500 : GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I *230700 : GANGLIOSIDOSIS, GM2, TYPE III, OR JUVENILE TYPE *230740 : GAPO SYNDROME *230800 : GAUCHER DISEASE, TYPE I *231050 : GELEOPHYSIC DYSPLASIA *231070 : GERODERMA OSTEODYSPLASTICA; GO *231090 : HYDATIDIFORM MOLE *231200 : GIANT PLATELET SYNDROME *231500 : GLAUCOMA, JUVENILE *231550 : ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME; AAA *231610 : GLUCURONIDASE, MOUSE, MODIFIER OF; GUSM *231670 : GLUTARICACIDEMIA I *231675 : GLUTARICACIDURIA IIC *231680 : GLUTARICACIDURIA IIA *231950 : GLUTATHIONURIA *232000 : PROPIONICACIDEMIA, TYPE I *232050 : PROPIONICACIDEMIA, TYPE II *232200 : GLYCOGEN STORAGE DISEASE I *232300 : GLYCOGEN STORAGE DISEASE II *232400 : GLYCOGEN STORAGE DISEASE III *232500 : GLYCOGEN STORAGE DISEASE IV *232600 : GLYCOGEN STORAGE DISEASE V *232700 : GLYCOGEN STORAGE DISEASE VI *232800 : GLYCOGEN STORAGE DISEASE VII *233100 : RENAL GLUCOSURIA; GLYS1 *233400 : GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS *233690 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-NEGATIVE FORM *233700 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM I *233710 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM II *234000 : HAGEMAN FACTOR DEFICIENCY *234050 : HAIR-BRAIN SYNDROME *234200 : HALLERVORDEN-SPATZ DISEASE *234500 : HARTNUP DISORDER *235200 : HEMOCHROMATOSIS; HFE *235510 : HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME *235800 : HISTIDINEMIA *235830 : HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT *235900 : HISTIOCYTOSIS, FAMILIAL LIPOCHROME *236100 : HOLOPROSENCEPHALY 1, ALOBAR; HPE1 *236200 : HOMOCYSTINURIA *236250 : 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR *236400 : HUMERORADIAL SYNOSTOSIS *236670 : WALKER-WARBURG SYNDROME *236680 : HYDROLETHALUS SYNDROME *236700 : MCKUSICK-KAUFMAN SYNDROME; MKKS *236730 : UROFACIAL SYNDROME; UFS *236792 : L-2-@HYDROXYGLUTARICACIDEMIA *236795 : 3-@HYDROXYISOBUTYRICACIDURIA *236800 : HYDROXYKYNURENINURIA *236900 : HYDROXYLYSINURIA *237000 : HYDROXYPROLINEMIA *237300 : HYPERAMMONEMIA DUE TO CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY *237310 : HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY *237450 : HYPERBILIRUBINEMIA, ROTOR TYPE *237800 : HYPERBILIRUBINEMIA, SHUNT *238300 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I *238310 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II *238320 : HYPERGONADOTROPIC HYPOGONADISM; HHG *238330 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE III *238331 : GLYCINE CLEAVAGE SYSTEM L PROTEIN; GCSL *238600 : HYPERLIPOPROTEINEMIA, TYPE I *238700 : HYPERLYSINEMIA *239000 : HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS *239100 : HYPEROSTOSIS CORTICALIS GENERALISATA *239300 : HYPERPHOSPHATASIA WITH MENTAL RETARDATION *239500 : HYPERPROLINEMIA, TYPE I *239510 : HYPERPROLINEMIA, TYPE II *239800 : HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME *240200 : HYPOADRENOCORTICISM, FAMILIAL *240300 : AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I *240500 : COMMON VARIABLE IMMUNODEFICIENCY *241080 : HYPOGONADISM, DIABETES MELLITUS, ALOPECIA, MENTAL RETARDATION, AND ELECTROCARDIOGRAPHIC ABNORMALITIES *241150 : HYPOKALEMIA, FAMILIAL *241310 : HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS *241400 : HYPOPARATHYROIDISM *241410 : HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD *241530 : HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH *241900 : HYPOTRICHOSIS *242500 : ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE *242600 : IMINOGLYCINURIA *242650 : IMMOTILE CILIA SYNDROME 1; ICS1 *242670 : IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES *242700 : IMMUNE DEFECT DUE TO ABSENCE OF THYMUS *242860 : IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME *242900 : IMMUNOOSSEOUS DYSPLASIA *243000 : INDIFFERENCE TO PAIN *243150 : INTESTINAL ATRESIA, MULTIPLE *243180 : INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE *243305 : INVERSIN *243400 : ISONIAZID INACTIVATION *243500 : ISOVALERICACIDEMIA; IVA *243600 : JEJUNAL ATRESIA *243800 : JOHANSON-BLIZZARD SYNDROME; JBS *244200 : KALLMANN SYNDROME 3; KAL3 *244400 : KARTAGENER SYNDROME *244450 : KAUFMAN OCULOCEREBROFACIAL SYNDROME *244460 : KENNY-CAFFEY SYNDROME, TYPE 1; KCS *245000 : PAPILLON-LEFEVRE SYNDROME; PALS *245010 : KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS *245050 : 3-@OXOACID CoA TRANSFERASE; OXCT *245100 : KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES *245200 : KRABBE DISEASE *245349 : PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X *245400 : LACTIC ACIDOSIS, CONGENITAL INFANTILE *245480 : LACTOFERRIN-DEFICIENT NEUTROPHILS *245600 : LARSEN SYNDROME, RECESSIVE *245660 : LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS *245800 : LAURENCE-MOON SYNDROME *245900 : LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY *246000 : LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT *246400 : LETTERER-SIWE DISEASE *246450 : 3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY *246530 : LEUKOTRIENE C4 SYNTHASE; LTC4S *246600 : LIPASE, CONGENITAL ABSENCE OF PANCREATIC *246700 : LIPID TRANSPORT DEFECT OF INTESTINE *246800 : LIPIDOSIS, JUVENILE DYSTONIC *246900 : LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO *247100 : LIPOID PROTEINOSIS OF URBACH AND WIETHE *247800 : LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS *247980 : LIPASE B, LYSOSOMAL ACID; LIPB *248300 : MAL DE MELEDA *248310 : MALARIA, INTENSITY OF INFECTION IN *248360 : MALONYL CoA DECARBOXYLASE DEFICIENCY *248370 : MANDIBULOACRAL DYSPLASIA; MAD *248500 : MANNOSIDOSIS, ALPHA B, LYSOSOMAL *248510 : MANNOSIDOSIS, BETA; MANB1 *248600 : MAPLE SYRUP URINE DISEASE, TYPE IA *248610 : MAPLE SYRUP URINE DISEASE, TYPE II *248611 : MAPLE SYRUP URINE DISEASE, TYPE IB *248700 : MARDEN-WALKER SYNDROME *248800 : MARINESCO-SJOGREN SYNDROME; MSS *248900 : MAST SYNDROME *249000 : MECKEL SYNDROME; MKS *249100 : MEDITERRANEAN FEVER, FAMILIAL; MEFV *249210 : MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME *249310 : MEGALOCORNEA-MENTAL RETARDATION SYNDROME *249620 : MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH *249650 : MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU *250100 : METACHROMATIC LEUKODYSTROPHY *250250 : CARTILAGE-HAIR HYPOPLASIA; CHH *250600 : METATROPIC DWARFISM *250620 : METHACRYLICACIDURIA *250790 : METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 *250800 : METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE *250850 : METHIONINE ADENOSYLTRANSFERASE DEFICIENCY *250900 : METHIONINE MALABSORPTION SYNDROME *250950 : 3-@METHYLGLUTACONICACIDURIA *251000 : METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY *251100 : METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMINcbl A *251110 : METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMINcbl B *251170 : MEVALONATE KINASE; MVK *251200 : MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE 1; MCPH1 *251230 : MICROCEPHALY-MICROMELIA SYNDROME *251270 : MICROCEPHALY WITH CHORIORETINOPATHY *251300 : MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME *251450 : MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION *251500 : MICROPHTHALMIA AND MENTAL DEFICIENCY *251600 : MICROPHTHALMOS, AUTOSOMAL RECESSIVE *251800 : MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS *251850 : MICROVILLUS INCLUSION DISEASE *252100 : MOHR SYNDROME *252350 : MOYAMOYA DISEASE *252500 : MUCOLIPIDOSIS II *252600 : MUCOLIPIDOSIS III *252605 : MUCOLIPIDOSIS III, VARIANT FORM *252650 : MUCOLIPIDOSIS IV *252800 : MUCOPOLYSACCHARIDOSIS TYPE I *252900 : MUCOPOLYSACCHARIDOSIS TYPE IIIA *252920 : MUCOPOLYSACCHARIDOSIS TYPE IIIB *252930 : MUCOPOLYSACCHARIDOSIS TYPE IIIC *252940 : MUCOPOLYSACCHARIDOSIS TYPE IIID *253000 : MUCOPOLYSACCHARIDOSIS TYPE IVA *253200 : MUCOPOLYSACCHARIDOSIS TYPE VI *253220 : MUCOPOLYSACCHARIDOSIS TYPE VII *253240 : MUCUS INSPISSATION OF RESPIRATORY TRACT *253250 : MULIBREY NANISM; MUL *253260 : BIOTINIDASE; BTD *253270 : MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD *253280 : MUSCLE-EYE-BRAIN DISEASE; MEB *253290 : MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE *253310 : LETHAL CONGENITAL CONTRACTURE SYNDROME *253700 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C *253800 : FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD *253900 : MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS *254110 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H *254150 : MUSK, INABILITY TO SMELL *254210 : MYASTHENIA GRAVIS, FAMILIAL INFANTILE; FIMG *254600 : MYELOPEROXIDASE DEFICIENCY *254770 : MYOCLONIC EPILEPSY, JUVENILE; EJM1 *254780 : EPILEPSY, PROGRESSIVE MYOCLONIC 2; EPM2A *254900 : MYOCLONUS-NEPHROPATHY SYNDROME *255125 : MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE *255300 : MYOPATHY, CONGENITAL *255320 : MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA *255800 : SCHWARTZ-JAMPEL SYNDROME; SJS *255960 : MYXOMA, INTRACARDIAC *256100 : NEPHRONOPHTHISIS, FAMILIAL JUVENILE 1; NPHP1 *256500 : NETHERTON DISEASE *256520 : NEU-LAXOVA SYNDROME; NLS *256540 : NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY *256550 : NEURAMINIDASE DEFICIENCY *256600 : NEUROAXONAL DYSTROPHY, INFANTILE *256700 : NEUROBLASTOMA *256710 : NEUROECTODERMAL MELANOLYSOSOMAL DISEASE *256731 : CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5 *256810 : NEUROPATHY, CONGENITAL SENSORY, WITH NEUROTROPHIC KERATITIS *256850 : NEUROPATHY, GIANT AXONAL; GAN *256855 : NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE *257150 : NEUTROPHIL ACTIN DYSFUNCTION; NAD *257200 : NIEMANN-PICK DISEASE *257220 : NIEMANN-PICK DISEASE, TYPE C *257270 : NIGHT BLINDNESS WITH HIGH-GRADE MYOPIA *257320 : NORMAN-ROBERTS LISSENCEPHALY SYNDROME *257550 : OCULAR MOTOR APRAXIA *257600 : OCULAR MYOPATHY WITH CURARE SENSITIVITY *257800 : OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION *257850 : OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE *257970 : OCULORENOCEREBELLAR SYNDROME *258120 : OHAHA SYNDROME *258150 : OLIGOSYNAPTIC INFERTILITY *258300 : OLIVOPONTOCEREBELLAR ATROPHY II *258360 : ONYCHOTRICHODYSPLASIA AND NEUTROPENIA *258400 : OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS *258480 : OPSISMODYSPLASIA *258501 : OPTIC ATROPHY 3; OPA3 *258700 : OPTICOCOCHLEODENTATE DEGENERATION *258850 : ORAL-FACIAL-DIGITAL SYNDROME, TYPE III *258870 : ORNITHINE AMINOTRANSFERASE DEFICIENCY *258900 : OROTICACIDURIA I *259250 : OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE *259450 : BRUCK SYNDROME *259700 : OSTEOPETROSIS, AUTOSOMAL RECESSIVE *259730 : OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS *259770 : OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG *259780 : OTOONYCHOPERONEAL SYNDROME *259900 : OXALOSIS I *260000 : OXALOSIS II *260005 : 5-@OXOPROLINASE DEFICIENCY *260300 : PALLIDOPYRAMIDAL SYNDROME *260400 : PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION *260565 : PEHO SYNDROME *260600 : PELIZAEUS-MERZBACHER DISEASE, ACUTE INFANTILE TYPE *260800 : PENTOSURIA *261000 : PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR *261510 : PEROXISOMAL 3-OXOACYL-COENZYME A THIOLASE DEFICIENCY *261515 : PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY *261540 : PETERS ANOMALY WITH SHORT-LIMB DWARFISM *261600 : PHENYLKETONURIA *261630 : PHENYLKETONURIA II *261640 : 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS *261650 : PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2 *261670 : PHOSPHOGLYCERATE MUTASE, DEFICIENCY OF M SUBUNIT OF *261680 : PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1 *261750 : PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE *262000 : PILI TORTI AND NERVE DEAFNESS *262300 : ACHROMATOPSIA 3; ACHM3 *262600 : PITUITARY DWARFISM III *262850 : PLASMIN INHIBITOR DEFICIENCY *263000 : PNEUMONITIS, FAMILIAL DESQUAMATIVE INTERSTITIAL; DIP *263200 : POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 *263210 : POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA *263400 : ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN *263520 : POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II *263530 : POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I *263570 : POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD *263650 : POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE *263700 : PORPHYRIA, CONGENITAL ERYTHROPOIETIC *263750 : POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS *264080 : PROGESTERONE RESISTANCE; PGR *264090 : PROGEROID SYNDROME, NEONATAL *264270 : PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES *264300 : PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA *264450 : PSEUDOMONGOLISM *264470 : PSEUDONEONATAL ADRENOLEUKODYSTROPHY *264600 : PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH *264700 : PSEUDOVITAMIN D DEFICIENCY RICKETS *264800 : PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE *264900 : PTA DEFICIENCY *265000 : PTERYGIUM SYNDROME *265100 : PULMONARY ALVEOLAR MICROLITHIASIS *265900 : PYLE DISEASE *265950 : PYLORIC ATRESIA *266100 : PYRIDOXINE DEPENDENCY WITH SEIZURES *266120 : PYRIMIDINE NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA FROM *266150 : PYRUVATE CARBOXYLASE DEFICIENCY *266200 : PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE *266250 : RADICULONEUROPATHY, FATAL NEONATAL *266265 : LEUKOCYTE ADHESION DEFICIENCY, TYPE II *266300 : HAIR COLOR 2; HCL2 *266350 : RED SKIN PIGMENT ANOMALY OF NEW GUINEA *266600 : INFLAMMATORY BOWEL DISEASE 1; IBD1 *266900 : RENAL DYSPLASIA AND RETINAL APLASIA *267000 : RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM *267430 : RENAL TUBULAR DYSGENESIS *267500 : RETICULAR DYSGENESIA *267750 : KNOBLOCH SYNDROME; KNO *268080 : RETINOSCHISIS OF FOVEA *268100 : RETINOSCHISIS WITH EARLY HEMERALOPIA *268200 : RHABDOMYOLYSIS, ACUTE RECURRENT *268300 : ROBERTS SYNDROME; RBS *268310 : ROBINOW SYNDROME, RECESSIVE FORM *268800 : SANDHOFF DISEASE *268900 : SARCOSINEMIA *269250 : SCHNECKENBECKEN DYSPLASIA *269500 : SCLEROSTEOSIS *269700 : BERARDINELLI-SEIP CONGENITAL LIPODYSDROPHY; BSCL *269860 : SHORT RIB SYNDROME, BEEMER TYPE *269920 : SIALIC ACID STORAGE DISEASE; SIASD *270100 : SITUS INVERSUS VISCERUM *270200 : SJOGREN-LARSSON SYNDROME *270300 : SKIN PEELING, FAMILIAL CONTINUOUS *270550 : SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS *270600 : SPASTIC DIPLEGIA, INFANTILE TYPE *270685 : SPASTIC PARAPARESIS WITH AMYOTROPHY OF HANDS AND FEET *270700 : SPASTIC PARAPLEGIA AND RETINAL DEGENERATION *270800 : SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A *271245 : INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA *271400 : SPLENIC HYPOPLASIA *271550 : SPONDYLOENCHONDRODYSPLASIA *271600 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA *271630 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE *271640 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL *271650 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT *271900 : CANAVAN DISEASE *271980 : ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1 *272200 : MULTIPLE SULFATASE DEFICIENCY *272300 : SULFOCYSTEINURIA *272370 : SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 *272460 : SYNSPONDYLISM, CONGENITAL *272650 : TATSUMI FACTOR DEFICIENCY *272750 : TAY-SACHS DISEASE, AB VARIANT *272800 : TAY-SACHS DISEASE; TSD *273300 : TESTICULAR TUMORS *273395 : TETRA-AMELIA WITH PULMONARY HYPOPLASIA *273750 : THREE M SYNDROME *273800 : THROMBASTHENIA OF GLANZMANN AND NAEGELI *273900 : THROMBOCYTOPENIA *274000 : THROMBOCYTOPENIAABSENT RADIUS SYNDROME *274150 : THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL *274180 : THROMBOXANE A SYNTHASE 1; TBXAS1 *274190 : THUMB AGENESIS, DWARFISM, AND IMMUNODEFICIENCY *274270 : DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD *274500 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIA *274600 : PENDRED SYNDROME; PDS *274700 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, III *274800 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, IV *275120 : THYROTROPIN-RELEASING HORMONE DEFICIENCY *275210 : TIGHT SKIN CONTRACTURE SYNDROME, LETHAL *275250 : TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF *275350 : TRANSCOBALAMIN II DEFICIENCY *275355 : TRANSFORMING GROWTH FACTOR, BETA-1 RESPONSE ELEMENT *275360 : TREHALASE *275370 : TRICARBOXYLIC ACID CYCLE, DEFECT OF *275630 : TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION *275900 : TROYER SYNDROME *276000 : PROTEASE, SERINE, 1; PRSS1 *276100 : TRYPTOPHANURIA WITH DWARFISM *276600 : TYROSINE TRANSAMINASE DEFICIENCY *276700 : TYROSINEMIA, TYPE I *276710 : TYROSINEMIA, TYPE III *276820 : ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY *276900 : USHER SYNDROME, TYPE IA; USH1A *276901 : USHER SYNDROME, TYPE IIA; USH2A *276902 : USHER SYNDROME, TYPE III; USH3 *276903 : MYOSIN VIIA; MYO7A *276904 : USHER SYNDROME, TYPE IC; USH1C *276905 : USHER SYNDROME, TYPE IIB; USH2B *277100 : VALINEMIA *277150 : VAN BOGAERT-HOZAY SYNDROME *277170 : VARADI-PAPP SYNDROME *277300 : SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE, 1 *277320 : VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA *277350 : VITAMIN A METABOLIC DEFECT *277400 : VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA *277410 : VITAMIN B12 METABOLIC DEFECT, TYPE 2 *277470 : VOLENDAM NEURODEGENERATIVE DISEASE *277600 : WEILL-MARCHESANI SYNDROME *277700 : WERNER SYNDROME; WRN *277730 : WERNICKE-KORSAKOFF SYNDROME *277900 : WILSON DISEASE *277950 : WINCHESTER DISEASE *278000 : WOLMAN DISEASE *278250 : WRINKLY SKIN SYNDROME; WSS *278300 : XANTHINURIA, TYPE I *278700 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA *278720 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC *278740 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E

51. LabPLUS - Routine Tests - ADRENOLEUKODYSTROPHY This form of ALD resembles Zelleweger cerebrohepatorenal syndrome, inthat the function of at least 5 peroxisomal enzymes is impaired. http://www.akhealth.co.nz/LabPlus/xlinked.htm

52. WebMD - Cerebrocostomandibular Syndrome Support Group Cerebrocostomandibular Syndromeshc cerebrohepatorenal syndrome nord Cerebromedullospinal Disconnection http://my.webmd.com/content/healthwise/124/30787.htm

WebMD Today Home WebMD Newscenter Member Services WebMD University My WebMD Find a Doctor, Clinic Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Family Genetics Who We Are About WebMD Health Mall Sponsored: Lose Lbs Naturally Heart Failure? Trouble Focusing? You are in Medical Library Choose a Topic Our Content Sources Health Guide A-Z Ask A Question Clinical Trials Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... CY C C Syndrome [nord] back to top C- C-Peptide [medical-test-topic] C-Reactive Protein (CRP) [medical-test-topic] C-section [special-topic] back to top C. C.A.I.R. (Changing Attitudes in Recovery) - Mental Health (General) [shc] C.A.S.A. (Cleptomaniacs And Shoplifters Anonymous) - Crime Victims / Offenders [shc] C.M.T. International - Charcot-Marie-Tooth [shc] C.U.S.A - Disabilities (General) / Spinal Cord Injury / Paralysis [shc] ... back to top CA Ca (Calcium), Blood [medical-test-topic] Ca (Calcium), Urine [medical-test-topic] CA-125 (Cancer Antigen) Test [medical-test-topic] Cacchi-Ricci Disease [nord] ... back to top CB CBC (Complete Blood Count) [medical-test-topic] CBGD [nord] CBGD (Corticobasal Ganglionic Degeneration) Support Network - Cortico-Basal Ganglionic Degeneration [shc] CBPS [nord] ... back to top CC CCA [nord] CCD Central Core Disease [nord] CCD Cronkhite Canada Disease [nord] CCHS [nord] ... back to top CD CD [nord] CD4+ counts (T-lymphocyte measurements) in HIV infection [test-detail] CDC National AIDS/HIV Hotline - AIDS Helplines [shc] CDC National Prevention Information Network - AIDS Helplines [shc] ... back to top CE

53. Cerebrohepatorenal Syndrome (codes) Name ZELLWEGER SYNDROME Synonyms, cerebrohepatorenal syndrome (codes).Definition An autosomal recessive peroxisomal disorder that http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=381

54. Www.icd9scope.com - Technology And Performance Demo For DELPHI Cephaloma Cephalomenia Cephalopelvic Cercomoniasis Cerebellitis Cerebellum CerebralCerebritis cerebrohepatorenal syndrome Cerebromacular degeneration http://www.icd9scope.com/cgi-bin/MudsoxICD9.DLL/IndexAlpha?Letters=C

55. SCI-E Erdem, G., O. Oran, et al. (1995). “Intestinal Lymphangiectasia in a Patient withZellweger cerebrohepatorenal syndrome.” Amer J Med Genet 58(2) 152154. http://www.library.hacettepe.edu.tr/sci-e.html

Science Citation Index / CD-ROM Source Index Hacettepe Üniversitesi Yazar adý Listesi A B C-Ç D ... Z Easton, C., E. Meza, et al. (1997). “Test-Retest Reliability of the Alcohol and Drug-Use Disorder Sections of the Schedules for Clinical-Assessment in Neuropsychiatry (Scan).” Drug Alcohol Dependence 47(3): 187-194. Ecevit, Z., M. Buyukpamukcu, et al. (1996). “Oka Strain Live Varicella Vaccine in Children with Cancer.” Pediat Inf Dis J 15(2): 169-170. Efremov, D. G., A. J. Dimovski, et al. (1994). “Possible Factors Influencing the Hemoglobin and Fetal Hemoglobin Levels in Patients with Beta-Thalassemia Due to a Homozygosity for the Ivs-I-6 (T-)C) Mutation.” Brit J Haematol 86(4): 824-830. Egilmez, Y. and M. Ilhan (1992). “Epithelial Modulation of Antigen-Induced Tracheal Smooth-Muscle Contractions in Actively Sensitized Guinea-Pigs.” Arch Int Pharmacodyn Ther 320(NOV-): 81-92. Eisensmith, R. C., Y. Okano, et al. (1992). “Multiple Origins for Phenylketonuria in Europe.” Amer J Hum Genet 51(6): 1355-1365. Eken, M., S. Turhan, et al. (1995). “Diffusion of Oxygen into Irradiated Polypropylene Films.” Radiat Phys Chem 46(4-6): 809-812.

56. Table Of Contents Home CHAPTER TEN INHERITED METABOLIC DISORDERS The Zellweger cerebrohepatorenal syndrome (ZS) is the most severe PXD.It isa complex autosomal recessive disorder, characterized by a combination of http://www.akronchildrens.org/neuropathology/CHAPTER_TEN.html

Table of contents Home CHAPTER TEN INHERITED METABOLIC DISORDERS LYSOSOMAL STORAGE DISEASES METACHROMATIC LEUKODYSTROPHY MUCOPOLYSACCHARIDOSES NEURONAL CEROID LIPOFUSCINOSES ... MITOCHONDRIAL DISORDERS This section deals with the principles of three sets of inherited metabolic disorders involving the function of lysosomes, peroxisomes, and mitochondria. There are many more inherited metabolic diseases that are beyond the scope of this syllabus. Many neurodegenerative diseases and muscle diseases are inherited metabolic disorders, the molecular and biochemical pathways of which we are just beginning to understand. The diseases covered in this section are, for the most part, childhood disorders in which patients are normal at birth and have progressive neurological deterioration beginning at some later time. In some of them, the disease is manifested in adulthood. The clinical phenotype depends on the type and severity of the biochemical defect, i.e., what functions are lost and whether the loss is total or partial, and on structural-functional reserves, i.e., what resources are available to replace or cope with the loss. Transmission of inherited metabolic disorders is governed by the principles of Mendelian inheritance. Most of them are autosomal recessive.

57. C Information Sites Cerebral Edema@; Cerebral Gigantism@; Cerebral Palsy@; CerebrocostomandibularSyndrome@; cerebrohepatorenal syndrome@; Cerebrotendinous http://www.healthorgs.com/ConditionsandDiseases/C/

HEALTHorgs.com Search The Largest Human Reviewed Health Database on Internet (Not sure of spelling? Use first letters and * such as abc* or abcd* or abcde*) Match:.. All Any Format: Long Short Search Words: Search the Internet (Not sure of spelling? Use first letters and * such as abc* or abcd* or abcde*) Match:.. All Any Format: Long Short Search Words: Top Health Conditions and Diseases : C Campylobacter Pylori Canavan Disease Cancer Candida ... (on approved loans) The content of the SPYorg.com directory is based on the Open Directory and is enhanced using Spyorg.com technology. Privacy Statement Add Your Site to SPYorg.com ADVERTISEMENT:

58. Cardiotext.com | Magnetic Resonance Of Myelin, Myelination, And Myelin Disorders 94 13 Mucopolysaccharidoses 97 14 Peroxisomes and Peroxisomal Disorders 106 15Zellweger cerebrohepatorenal syndrome, Neonatal Adrenoleukodystrophy and http://www.cardiotext.com/description/isbn=3540592776&searchword=187%0A&searchop

Search by: Keyword Title Author Start of title ISBN Sort by: Pub Date Let Us Search New Arrivals Cardiology EKG/ECG SALE! Echocardiography Electrophysiology Interventional Book of the Week ... What's this? Sign up for free e-mail news about new titles and sales. Magnetic Resonance of Myelin, Myelination, and Myelin Disorders 2/ed. Marjo Van Der Knaap SPRINGER VERLAG INC,Hardcover, 01-1995, 558 pages ISBN: 3540592776 LCCN: 00000000 Related Titles in Diagnostic imaging Related Titles in Magnetic resonance imaging Rate this book Synopsis: Free University Hospital, Amsterdam, The Netherlands. Second edition of an interdisciplinary text for radiologists and neurologists on the role of magnetic resonance imaging and magnetic resonance spectroscopy in diagnosis, therapy monitoring, and research into myelin disorders. Publisher out of stock. Title may no longer be available. If ordered, we will confirm status within 24 hours. - Shipping Information Request a quote for 10+ copies Retail Price: Cardiotext Price: Detailed Description: TABLE OF CONTENTS 1 Myelin and White Matter 1 2 Classification of Myelin Disorders 18 3 Selective Vulnerability 22 4 Myelination and Retarded Myelination 31 5 Lysosomes and Lysosomal Disorders 53 6 Metachromatic Leukodystrophy 53 7 Multiple Sulfatase Deficiency 65 8 Globoid Cell Leukodystrophy: Krabbe's Disease 68 9 GM1 Gangliosidosis 76 10 GM2 Gangliosidosis 81 11 Fabry's Disease 90 12 Fucosidosis 94 13 Mucopolysaccharidoses 97 14 Peroxisomes and Peroxisomal Disorders 106 15 Zellweger Cerebrohepatorenal Syndrome, Neonatal

59. Deafblindness Ocular Histopathologic and Biochemical Studies of the cerebrohepatorenal syndrome(Zellweger's Symdrome) and its Relation to Neonatal Adrenoleukodystrophy http://www.pacifier.com/~mstephe/irddb.htm

DEAFBLINDNESS COMBINED HEARING AND VISUAL IMPAIRMENTS IN THE PEROXISOMAL BIOGENESIS DISORDERS One of the major effects of infantile Refsum Disease (as well as the other peroxisomal biogenesis disorders) is the combination of significant audiory and visual impairments. These sensory losses vary in severity from child to child, and these diseases do not necessarily lead to total deafness and/or total blindness. In fact, it is entirely possible that the child will retain some useful vision and hearing. However, in combination, these impairments of the distal senses cause serious developmental delay in the child; affecting cogntive and social development, orientation and mobility, and the acquistion of communication and language. The disabling condition caused by combined hearing and visual losses is deafblindness (or deaf-blindness, equally correct). A deafblind child cannot be thought of as blind and also deaf, nor as deaf and also blind. She is deafblind. Deafblindness is a unique disability; it has its own concepts and terminology, its own methods of assessment and education, and its own modes of communication which distinguish it from blindness and deafness understood separately. It is not a medical concept, the ophthalmologist and the audiologist observe within their respective spheres, and the strictly medical literature never refers to deafblindness. It's a developmental concept, and without it the nature of the disability cannot be understood.

60. Zellweger, Syndrome : Sites Et Documents Francophones syndrome cerebrohepatorenal; syndrome zellweger . Arborescence(s) du thesaurus MeSH http://www.chu-rouen.fr/ssf/pathol/zellwegersyndrome.html

Zellweger, Syndrome Menu général CISMeF Synonyme(s) cerebrohepatorenal, syndrome ; syndrome cerebrohepatorenal ; syndrome zellweger Arborescence(s) Zellweger, syndrome Zellweger syndrome appareil digestif, maladies maladies et malformations congénitales, héréditaires et néonatales maladies urologiques et appareil génital mâle métabolisme et nutrition, maladies ... système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

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