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Marinesco-sjogren Syndrome: more detail

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Faculty - UTHSCSA Department Of Orthopaedics, San Antonio, Texas
Reinker K, Hsia E, Yuen J, Henry G, Powell B, Rimoin D, Wilcox W. OrthopaedicManifestations of marinescosjogren syndrome. J Pedatr Orthop 22(3)399-403
http://www.uthscsa.edu/orthopaedics/faculty/reinker.html

Extractions: Publications: Yeargan S, Shaieb M, Nakasone C, Montgomery W, Reinker K, Treatment of Chronic Osteomyelitis in Children Resistant to Previous Therapy, J Pediatr. Orthop. January/February 24(1):109-28, 2004 Burns C, Powell BR, Hsia YE, Reinker K. Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature, J Pediatr Orthop. Jan-Feb;23(1):88-93, 2003 Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene., Am J Hum Genet. Feb;72(2):419-28, 2003 Reinker K, Surgery, in Pediatric Orthopaedic Secrets, 2nd edition , Lynn T. Staheli, Ed., Mosby , 2002 Ehtesham N, Cantor R, King L, Reinker K, Powell B, Shanske A, Unger S, Rimoin D, Cohn D. Evidence that Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia are allelic disorders that result from mutations in a gene on the long arm of chromosome 18. Am J. Hum Genet Aug 2:71(4), 2002 Reinker K, Hsia E, Yuen J, Henry G, Powell B, Rimoin D, Wilcox W. Orthopaedic Manifestations of Marinesco-Sjogren Syndrome. J Pedatr Orthop 22(3):399-403 2002.
Health Library -
12.42.224.150/library/healthguide/enus/illnesscon 1992 KJMSTI marinesco-sjogren syndrome with reduced cytochrome c oxidase in muscle.AU Kodama-S; Komatsu-M; Miyoshi-M; Nakao-H; Sakurai-T; UM
http://12.42.224.150/library/healthguide/en-us/SelfHelp/topic.asp?hwid=shc29mss
Publication Details - H Eugene Hoyme - Stanford University School Of Medicine
marinescosjogren syndrome (MSS) is a rare, autosomal recessive disorder comprisingcataracts, cerebellar ataxia caused by cerebellar hypoplasia,
http://med.stanford.edu/profiles/frdActionServlet?choiceId=showPublication&pubid
Health Library -
MedlinePlus Medical Encyclopedia Congenital cataract congenital cataracts; HallermanStreiff syndrome; Lowe syndrome; Trisomy 13;Conradi syndrome; Ectodermal dysplasia syndrome; marinesco-sjogren syndrome
http://12.31.13.113/library/healthguide/en-us/illnessconditions/topic.asp?hwid=n
KoreaMed - Basic Search
A Case of Congenital Binocular Cataracts with Posterior Fossa Cyst Simulatingmarinescosjogren syndrome. J Korean Neurosurg Soc. 1979 Sep;8(2)555-564.
http://www.koreamed.org/SearchBasic.php?QY=J Korean Neurosurg Soc [JTI] AND 1979
Untitled Document
Sanders SR, Carriles C, Powell C, Mulvihill JJ, Li S No evidence of SARA2gene mutation in our patients with marinescosjogren syndrome (MSS).
http://www.ouhsc.edu/provost/EndowedChair/DetailEC05.asp?ID=273
ENABLENET THESAURUS RAW TEXT SHOWING STRUCTURE BEST VIEWED WITH
LangerGiedion Syndrome - Laurence-Moon-Biedl Syndrome - Marfan Syndrome -marinesco-sjogren syndrome - Nail Patella Syndrome - Noonan s Syndrome
http://www.enable.net.au/docs/Thesaurus/EnableNet_Thesaurus.txt
University Of South Alabama Biomedical Library - Faculty Publications
Wertelecki W. Neuroradiologic findings in marinescosjogren syndrome. AJNRAmerican Journal of Neuroradiology. 19(2)281-3, 1998 Feb.
http://southmed.usouthal.edu/library/bf/fac40.htm

Extractions: Listed below are journal publications by USA Faculty indexed in MEDLINE and CINAHL for Feburary1998-July1998. This list is generated from the address of the first listed author in MEDLINE and from Current Currents. Department chairs are also asked to submit citations of recent publications for their department members. If we missed your latest contribution to the literature, please notify the Editor so it can be included in a future listing. New faculty are encouraged to submit their latest publications to the Editor. Almeida OD. Valgallas JM. Rizk B . Appendectomy under local anaesthesia following conscious pain mapping with microlaparoscopy. Human Reproduction . 13(3):588-590, 1998 Mar. Anglade D. Corboz M. Menaouar A. Parker JC. Sanou S. Bayat S. Benchetrit G. Grimbert FA. Blood flow vs. venous pressure effects on filtration coefficient in oleic acid-injured lung. Journal of Applied Physiology. 84(3):1011-1023, 1998 Mar. Armour JA. Collier K. Kember G. Ardell JL. Differential selectivity of cardiac neurons in separate intrathoracic autonomic ganglia.
Linkage To 18qter Differentiates Two Clinically Overlapping Syndromes: Congenita
Neuropathy with lysosomal changes in marinescosjogren syndrome fine structuralfindings in skeletal marinesco-sjogren syndrome in a Bedouin family.
http://jmg.bmjjournals.com/cgi/content/full/39/11/838

Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Lagier-Tourenne, C Articles by Dollfus, H Related Collections Genetics Journal of Medical Genetics
Progressive Cerebellocerebral Atrophy: A New Syndrome With Microcephaly, Mental
onset spinocerebellar atrophy,5 MarinescoSjogren disease,6 Norman syndrome of and mental maturation report of cases of marinesco-sjogren syndrome.
http://jmg.bmjjournals.com/cgi/content/full/40/8/e96

Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Ben-Zeev, B Articles by Lerman-Sagie, T Related Collections Other Neurology
*200150 CHOREOACANTHOCYTOSIS; CHAC *200350 ACETYL-CoA
TYPE IB *248700 MARDENWALKER SYNDROME *248800 marinesco-sjogren syndrome;MSS *248900 MAST SYNDROME *249000 MECKEL SYNDROME;
http://linkage.rockefeller.edu/wli/omim/auto_rec.txt

Extractions: *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
NIH Guide: THE HEREDITARY ATAXIAS INCLUDING MACHADO-JOSEPH DISEASE
ataxiatelangiectasia, hereditary spastic paraplegia, Roussy-Levy andmarinesco-sjogren syndrome, abetalipoproteinemia (Bassen-Kornzweig syndrome),
http://grants.nih.gov/grants/guide/pa-files/PA-92-048.html
A Decamer Duplication In The 3' Region Of The BRI Gene Originates An Amyloid Pep
differentiates two clinically overlapping syndromes congenital cataractsfacialdysmorphism-neuropathy (CCFDN) syndrome and marinesco-sjogren syndrome
http://www.pnas.org/cgi/content/abstract/080076097

Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred Ruben Vidal Agueda Rostagno Eugene Kim Janice L. Holton Toke Bek Hans Braendgaard Gordon Plant Jorge Ghiso , and Blas Frangione Department of Pathology, New York University School of Medicine, New York 10016; Department of Neuropathology, Institute of Neurology, London, WC1N3BG United Kingdom; Departments of Ophthalmology
Congenital Cataract
Lowe syndrome; Trisomy 13; Conradi syndrome; Ectodermal dysplasia syndrome;marinescosjogren syndrome Rubella Syndrome Rubella Syndrome
http://www.lifespan.org/ADAM/English/HIE/001615.htm

Extractions: Other ways to give Injury Disease Nutrition Poison ... Prevention A congenital cataract involves clouding of the lens of the eye that is present at birth. Cataract - congenital The number of people born with cataracts is low. Possible causes of congenital cataracts include the following: Although many diseases and inherited disorders can lead to congenital cataracts, in most patients, no specific cause can be identified. Eye Cataract - close-up of the eye Rubella Syndrome Cataract Review Date: 7/24/2004
Retino 2003 - Agenda
18qter differentiates two clinically overlapping syndromes congenitalcataracts facial dysmorphism neuropathy syndrome and marinescosjogren syndrome
http://extra.curie.net/retino2003/ParallelSession3G.htm

Extractions: Gorlin Syndrome: The PCTH gene links ocular developmental defects and tumour formation Nicola K Ragge , Alison salt , J Richard O Collin , Anthony Michaelski , Peter Farndon Moorfield eye Hospital , London, St Thomas Hospital , London ,Hospital for sick children , London , deparment of human genetics , Birmingham ,UK I. de Becker MD FRCS(C), M. Walter MD FRCS(C). Dept. of Ophthalmology, Dalhousie University, Halifax NS, Canada ; Dept. of Ophthalmology, University of Alberta, Edmonton AB, Canada ; Dept. of Ophthalmology, SUNY Upstate Medical University, Syracuse NY Clinical and molecular aspects of Shorts syndrome : an autosomal dominant Rieger anomaly, Short stature and diabetes syndrome P. Bitoun
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76, Marfan syndrome, ?, 142. 77, marinescosjogren syndrome, ,145. 78, Marshall-Smith syndrome, , 147
http://www.nippon-rinsho.co.jp/backnum/s_mokuji/sentenjiten-2.html

Extractions: Wè gbvI[T[ Ø@Ça æIIÒ@e_[2] ichthyosis à@@c² ichthyosis-cheek-eyebrow syndrome à@@c² ichthyosis-coloboma-heart defect-deafness-mental retardation à@@c² IFAP syndrome(ichthyosis follicularis, alopecia, and photophobia syndrome) à@@c² immunodeficiency, hyper IgE type à@@c² immunodeficiency, Wiskott-Aldrich type à@@c² immunodeficiency with centromeric instability, immunodeficiency-centromeric instability-facial anomalies(ICF) ìÚ@@T incontinentia pigmenti, Bloch-Sulzberger syndrome à@@c² inflammatory disease, neonatal Bates-Lorber type à@@c² IVIC syndrome jaw-winking syndrome jejunal atresia Johanson-Blizzard syndrome Joubert syndrome Kabuki make-up syndrome Ø@Ça Kallmann syndrome iä@qY Karsch-Neugebauer syndrome KBG syndrome keratosis palmaris et plantaris of Unna-Thost Keutel syndrome kidney, medullary sponge kidney, polycystic disease-cataract-blindness kidney, polycystic disease, dominant kidney, renal dysplasia, Potter type II
UniProtKB/Swiss-Prot Entry Q9Y6B6 [SAR1B_HUMAN] GTP-binding Protein SAR1b
DISEASE Defects in SARA2 are the cause of chylomicron retention disease associatedwith marinescosjogren syndrome (CMRD-MSS) MIM607692.
http://www.expasy.org/cgi-bin/niceprot.pl?Q9Y6B6
Useful Links
Marfan Syndrome National Marfan Foundation, 3285. marinescosjogren syndromeSupport Website, 3438. Mitochondrial disorders United Mitochondrial Disease
http://www.possum.net.au/links.htm

Extractions: About Find out about the latest version of POSSUM. FAQ Frequently Asked Questions about POSSUM. Order Print an order form and send it to us. Links Discover syndrome web sites using our new list of useful links. Contact Maybe you'd like to tell us what you think about POSSUM, contribute pictures to the POSSUM database, or make some suggestions about how we can improve this website. Useful Links The information listed below is provided for informational purposes only. There is no implied endorsement by POSSUM. POSSUM does not promote or endorse participation in any specific organization. Every effort is made to ensure that the details for each entry are as current as possible. Syndrome Name POSSUM Number Aarskog Syndrome Parents Support Group (USA) Aicardi Syndrome Foundation Alagille Syndrome Alliance Alport Syndrome Home Page ... Angelman Syndrome Foundation, Inc
Marinesco-Sjogren-Garland Syndrome Information Diseases Database
marinescosjogren-Garland syndrome,Torsten Sjogren syndrome,Cataract-oligophreniasyndrome, Disease Database Information.
http://www.diseasesdatabase.com/ddb31430.htm

Extractions: Cataract-oligophrenia syndrome Marinesco-Sjogren-Garland syndrome: Definition(s) via UMLS Code translations and terms via UMLS Marinesco-Sjogren-Garland syndrome: specific web sites Send Marinesco-Sjogren-Garland syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these:
ORPHANET - Maladies Rares - Médicaments Orphelins
Translate this page MALADIE marinesco-sjogren, syndrome de. CIM E88.9. Le syndrome de Marinesco-Sjögrenappartient au groupe des ataxies cérébelleuses autosomiques récessives
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=559

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